El panel de precisión de displasia esquelética de Igenomix está indicado para aquellos pacientes con un diagnóstico clínico sospechado de displasia esquelética que presente las siguientes manifestaciones:
LA utilidad de este panel es:
|
GENE |
OMIM DISEASES |
INHERITANCE* |
% GENE COVERAGE (20X) |
HGMD** |
|
ABCC9 |
Acromegaloid Facial Appearance Syndrome, Familial Atrial Fibrillation, Familial, Brugada Syndrome, Dilated Cardiomyopathy, Hypertrichosis-Acromegaloid Facial Appearance Syndrome, Hypertrichotic Osteochondrodysplasia, |
AD |
100% |
51 of 51 |
|
ACAN |
Osteochondritis Dissecans, Short Stature And Early-onset Osteoarthritis, Spondyloepimetaphyseal Dysplasia Aggrecan Type, Spondyloepiphyseal Dysplasia Kimberley Type |
AD,AR |
86.19% |
63 of 65 |
|
ACP5 |
Combined Immunodeficiency With Autoimmunity And Spondylometaphyseal Dysplasia, Spondyloenchondrodysplasia |
AR |
100% |
27 of 28 |
|
ACTB |
Baraitser-Winter Cerebrofrontofacial Syndrome, Baraitser-Winter Syndrome, Becker Nevus Syndrome, Developmental Malformations-Deafness-Dystonia Syndrome |
AD |
100% |
40 of 40 |
|
ACTG1 |
Baraitser-Winter Cerebrofrontofacial Syndrome, Autosomal Dominant Deafness |
AD |
98.59% |
55 of 55 |
|
AFF4 |
Chops Syndrome, Cognitive Impairment-Coarse Facies-Heart Defects, Obesity-Pulmonary Involvement, Short Stature-Skeletal Dysplasia Syndrome |
AD |
99.42% |
6 of 6 |
|
AIFM1 |
Combined Oxidative Phosphorylation Deficiency, Cowchock Syndrome, X-linked Cowck Deafness, Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome, Severe X-linked Mitochondrial Encephalomyopathy, Spondyloepimetaphyseal Dysplasia, X-linked Charcot-Marie-Tooth Disease Type 4 |
X,XR,G |
100% |
NA of NA |
|
AKT1 |
Breast Cancer, Colorectal Cancer, Cowden Syndrome, Meningioma, Proteus Syndrome |
AD |
100% |
6 of 6 |
|
ALDH3A2 |
Sjogren-Larsson Syndrome |
AR |
96% |
119 of 119 |
|
ALG9 |
ALG9-CDG Congenital Disorder Of Glycosylation Type II, Polycystic Kidney Disease Potter Type I |
AR |
99.99% |
6 of 6 |
|
ANAPC1 |
Rothmund-Thomson Syndrome Type 1 |
AR |
86.31% |
3 of 4 |
|
ANKH |
Chondrocalcinosis, Craniometaphyseal Dysplasia, Autosomal Dominant Familial Calcium Pyrophosphate Deposition |
AD |
100% |
19 of 19 |
|
ANOS1 |
Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism |
X,XR,G |
96.86% |
NA of NA |
|
ARSB |
Mucopolysaccharidosis Type VI |
AR |
99.83% |
217 of 220 |
|
B3GALT6 |
Ehlers-Danlos Syndrome Progeroid Type 2, Spondyloepimetaphyseal Dysplasia With Joint Laxity |
AR |
65.09% |
24 of 39 |
|
B4GALT7 |
B4GALT7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
AR |
99.92% |
11 of 11 |
|
BGN |
Meester-Loeys Syndrome, X-linked Spondyloepimetaphyseal Dysplasia |
X,XR,G |
99.87% |
NA of NA |
|
BMPR1B |
Acromesomelic Dysplasia Grebe Type, Brachydactyly Type A1, A2, C, D, Aplasia-Complex Brachydactyly Syndrome |
AD,AR |
100% |
33 of 34 |
|
CANT1 |
Desbuquois Dysplasia, Desbuquois Syndrome, Multiple Epiphyseal Dysplasia |
AR |
99.98% |
29 of 30 |
|
CCDC141 |
Hypogonadotropic Hypogonadism Without Anosmia, Kallmann Syndrome |
AR |
99.70% |
1 of 1 |
|
CDH3 |
Eem Syndrome, Hypotrichosis With Juvenile Macular Degeneration, Congenital Hypotrichosis With Juvenile Macular Dystrophy |
AR |
95% |
34 of 36 |
|
CDKN1C |
Beckwith-Wiedemann Syndrome, IMAGE Syndrome, Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
AD |
73.58% |
55 of 76 |
|
CEP120 |
Jeune Syndrome, Joubert Syndrome, Short-Rib Thoracic Dysplasia With Or Without Polydactyly |
AR |
99.80% |
9 of 9 |
|
CFAP410 |
Amyotrophic Lateral Sclerosis, Cone Rod Dystrophy, Retinal Dystrophy With Or Without Macular Staphyloma, Axial Spondylometaphyseal Dysplasia |
AR |
na |
na |
|
CHD7 |
CHARGE Syndrome, Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Omenn Syndrome |
AD |
96.25% |
823 of 896 |
|
CHST3 |
CHST3-Related Skeletal Dysplasia, Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism With Or Without Congenital Heart Defects, Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
AR |
99.97% |
38 of 38 |
|
COL10A1 |
Metaphyseal Chondrodysplasia Schmid Type |
AD |
96.18% |
55 of 55 |
|
COL11A1 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss, Rhizomelic Dysplasia Syndrome, Autosomal Recessive Stickler Syndrome, Autosomal Dominant Deafness, Fibrochondrogenesis, Marshall Syndrome, Stickler Syndrome Type 2 |
AD,AR |
100% |
104 of 106 |
|
COL11A2 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant Deafness, Fibrochondrogenesis, Stickler Syndrome Type 3 |
AD,AR |
99.98% |
58 of 58 |
|
COL1A1 |
Arthrochalasia, Ehlers-Danlos Syndrome, Caffey Disease, Dermatofibrosarcoma Protuberans, Ehlers-Danlos Syndrome Type 7, Osteogenesis Imperfecta Type I, IIa, III, IV, Osteoporosis |
AD |
99.98% |
1156 of 1159 |
|
COL1A2 |
Arthrochalasia Ehlers-Danlos Syndrome, Cardiac-Valvular Ehlers-Danlos Syndrome, Osteogenesis Imperfecta, Type IIa, III, IV, Osteoporosis |
AD,AR |
100% |
576 of 581 |
|
COL2A1 |
Achondrogenesis Type 2, Autosomal Dominant Otospondylomegaepiphyseal Dysplasia, Avascular Necrosis Of Femoral Head, Primary Czech Dysplasia Metatarsal Type, Dysspondyloenchondromatosis, Epiphyseal Dysplasia Multiple With Myopia And Conductive Deafness, Familial Avascular Necrosis Of Femoral Head, Kniest Dysplasia, Legg-Calve-Perthes Disease, Multiple Epiphyseal Dysplasia Beighton Type, Osteoarthritis With Mild Chondrodysplasia, Platyspondylic Dysplasia Torrance Type, Spondyloepimetaphyseal Dysplasia Congenita Strudwick Type, Stanescu Type, Spondylometaphyseal Dysplasia ‘Corner Fracture’ Type, Spondyloperipheral Dysplasia, Short Ulna Syndrome, Stickler Syndrome Type 1 |
AD,MU |
100% |
583 of 583 |
|
COL3A1 |
Acrogeria, Ehlers-Danlos Syndrome Type IV, Autosomal Dominant Familial Cerebral Saccular Aneurysm, Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome, Vascular Ehlers-Danlos Syndrome |
AD,AR |
100% |
676 of 676 |
|
COL9A1 |
Autosomal Recessive Stickler Syndrome, Multiple Epiphyseal Dysplasia, Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly, Stickler Syndrome Type IV |
AD,AR |
99.98% |
8 of 8 |
|
COL9A2 |
Autosomal Recessive Stickler Syndrome, Multiple Epiphyseal Dysplasia, Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly, Stickler Syndrome, Type V |
AD,AR |
100% |
16 of 16 |
|
COL9A3 |
Autosomal Recessive Stickler Syndrome, Multiple Epiphyseal Dysplasia, Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
AD |
99.98% |
20 of 20 |
|
COMP |
Multiple Epiphyseal Dysplasia, Multiple Epiphyseal Dysplasia Type 1, Pseudoachondroplasia |
AD |
99.71% |
189 of 189 |
|
CTSA |
Galactosialidosis, Neuraminidase Deficiency With Beta-Galactosidase Deficiency |
AR |
100% |
40 of 40 |
|
CTSK |
Pycnodysostosis |
AR |
99.97% |
59 of 59 |
|
CWC27 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
AR |
99.77% |
8 of 8 |
|
DCC |
Colorectal Cancer, Esophageal Cancer, Familial Congenital Mirror Movements, Familial Horizontal Gaze Palsy With Progressive Scoliosis And Impaired Intellectual Development, Kallmann Syndrome |
AD,AR |
94% |
39 of 39 |
|
DCHS1 |
Cerebrofacioarticular Syndrome, Mitral Valve Prolapse, Van Maldergem Syndrome |
AD,AR |
99.69% |
30 of 30 |
|
DDR2 |
Spondylometaepiphyseal Dysplasia, Short Limb-hand Type, Warburg-Cinotti Syndrome |
AD,AR |
100% |
13 of 13 |
|
DDRGK1 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
AR |
99.94% |
1 of 1 |
|
DMP1 |
Autosomal Recessive Hypophosphatemic Rickets |
AR |
99.89% |
11 of 11 |
|
DNAJC21 |
Bone Marrow Failure Syndrome, Shwachman-Diamond Syndrome |
AR |
99.83% |
12 of 12 |
|
DUSP6 |
Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism |
AD,AR |
99.36% |
4 of 4 |
|
DYM |
Dyggve-Melchior-Clausen Disease, Smith-Mccort Dysplasia |
AR |
90% |
37 of 37 |
|
DYNC2H1 |
Jeune Syndrome, Short Rib-Polydactyly Syndrome Verma-Naumoff Type, Short-Rib Thoracic Dysplasia With Or Without Polydactyly |
AR,MU,D |
99.78% |
214 of 221 |
|
DYNC2I1 |
Jeune Syndrome, Short Rib-Polydactyly Syndrome Verma-Naumoff Type, Short-Rib Thoracic Dysplasia With Or Without Polydactyly |
AR |
97.76% |
14 of 14 |
|
DYNC2I2 |
Jeune Syndrome, Short Rib-Polydactyly Syndrome, Verma-Naumoff Type, Short-Rib Thoracic Dysplasia With Or Without Polydactyly |
AR |
99.54% |
23 of 23 |
|
DYNC2LI1 |
Ellis Van Creveld Syndrome, Jeune Syndrome, Short-Rib Thoracic Dysplasia With Polydactyly |
AR |
91.58% |
16 of 16 |
|
EIF2AK3 |
Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus, Wolcott-Rallison Syndrome |
AR |
99.30% |
89 of 89 |
|
ENPP1 |
Generalized Arterial Calcification Of Infancy, Autosomal Recessive Hypophosphatemic Rickets, Cole Disease, Noninsulin-Dependent Diabetes Mellitus, Obesity, Pseudoxanthoma Elasticum |
AD,AR,MU,P |
96.59% |
73 of 75 |
|
ERF |
Chitayat Syndrome, Crouzon Disease, Familial Lambdoid Synostosis, Isolated Cloverleaf Skull Syndrome |
AD |
99.73% |
31 of 31 |
|
EXOC6B |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 3 |
AR |
99.99% |
2 of 3 |
|
EXTL3 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities, Skeletal Dysplasia-T-Cell Immunodeficiency Developmental Delay Syndrome |
AR |
99.99% |
10 of 10 |
|
FAM111A |
Autosomal Dominant Kenny-Caffey Syndrome, Gracile Bone Dysplasia |
AD |
99.47% |
9 of 10 |
|
FAT4 |
Cerebrofacioarticular Syndrome, Hennekam Lymphangiectasia-Lymphedema Syndrome, Van Maldergem Syndrome |
AR |
99.80% |
41 of 41 |
|
FEZF1 |
Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome |
AR |
99.95% |
3 of 3 |
|
FGF17 |
Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism |
AD,AR |
99.98% |
8 of 8 |
|
FGF8 |
Alobar Holoprosencephaly, Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Lobar Holoprosencephaly, Microform Holoprosencephaly, Midline Interhemispheric Variant Of Holoprosencephaly, Normosmic Congenital Hypogonadotropic Hypogonadism, Septopreoptic Holoprosencephaly |
AD |
98.36% |
38 of 38 |
|
FGFR1 |
Encephalocraniocutaneous Lipomatosis, Hartsfield Syndrome, Isolated Trigonocephaly, Jackson-Weiss Syndrome, Kallmann Syndrome, Lobar Holoprosencephaly, Microform Holoprosencephaly, Normosmic Congenital Hypogonadotropic Hypogonadism, Oligodontia, Osteoglophonic Dysplasia, Pfeiffer Syndrome, Semilobar Holoprosencephaly, Septo-Optic Dysplasia Spectrum, Nonsyndromic Trigonocephaly |
AD |
100% |
279 of 280 |
|
FGFR3 |
Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans, Bladder Cancer, Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome, Cervical Cancer, Colorectal Cancer, Crouzon Syndrome With Acanthosis Nigricans, Epidermal Nevus, Hypochondroplasia, Isolated Brachycephaly, Isolated Plagiocephaly, Lacrimoauriculodentodigital Syndrome, Muenke Syndrome, Saethre-Chotzen Syndrome, Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome, Testicular Tumor, Thanatophoric Dysplasia Type 1 And 2 |
AD,AR |
99.89% |
77 of 78 |
|
FLNA |
X-linked Cardiac Valvular Dysplasia, Congenital Short Bowel Syndrome, Frontometaphyseal Dysplasia, X-linked Dominant Periventricular Heterotopia, Neuronal Intestinal Pseudoobstruction, Melnick-Needles Syndrome, Otopalatodigital Syndrome Type 1, 2, Periventricular Nodular Heterotopia, Terminal Osseous Dysplasia, X-linked Ehlers-Danlos Syndrome |
X,XR,XD,G |
100% |
NA of NA |
|
FLNB |
Atelosteogenesis Type I and Type III, Boomerang Dysplasia, Larsen Syndrome, Spondylocarpotarsal Synostosis Syndrome |
AD,AR |
100% |
124 of 124 |
|
FLRT3 |
Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome |
AD |
99.98% |
7 of 7 |
|
FN1 |
Fibronectin Glomerulopathy, Spondylometaphyseal Dysplasia ‘Corner Fracture’ Type |
AD |
100% |
34 of 34 |
|
GDF5 |
Acromesomelic Dysplasia Grebe Type, Hunter-Thompson Type, Angel-Shaped Phalango-Epiphyseal Dysplasia, Brachydactyly Type A1, Type A2, Type C, Chondrodysplasia Grebe Type, Fibular Aplasia-Complex Brachydactyly Syndrome, Multiple Synostoses Syndrome, Proximal Symphalangism |
AD,AR |
99.48% |
48 of 51 |
|
GJA1 |
Alopecia Congenita With Keratosis Palmoplantaris, Atrioventricular Septal Defect, Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia, Craniometaphyseal Dysplasia, Erythrokeratodermia Variabilis,,hypoplastic Left Heart Syndrome, Hypoplastic Left Heart Syndrome, Oculodentodigital Dysplasia, Syndactyly Type 3 |
AD,AR,MU,O |
100% |
119 of 119 |
|
GLI3 |
Acrocallosal Syndrome, Greig Cephalopolysyndactyly Syndrome, Congenital Hypothalamic Hamartoma Syndrome, Pallister-hall Syndrome, Postaxial Polydactyly, Preaxial Polydactyly, Tibial Hemimelia |
AD,AR |
100% |
231 of 231 |
|
GNAS |
ACTH-Independent Macronodular Adrenal Hyperplasia, Albright Hereditary Osteodystrophy, Cushing Syndrome Due To Macronodular Adrenal Hyperplasia, Mazabraud Syndrome, McCune-Albright Syndrome, Progressive Osseous, Pseudohypoparathyroidism Type 1A, 1B, 1C Type 1c |
AD |
99.95% |
263 of 273 |
|
GPX4 |
Spondylometaphyseal Dysplasia Sedaghatian Type |
AR |
79.72% |
3 of 3 |
|
HBB |
Alpha-Thalassemia, Beta-thalassemia, Heinz Body Anemias, Hemoglobin C-Beta-Thalassemia Syndrome, Hemoglobin E-beta-thalassemia Syndrome, Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome, Sickle Cell Anemia |
AD,AR |
100% |
753 of 789 |
|
HDAC6 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly and Microphthalmia, X-linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
X,XD,G |
100% |
NA of NA |
|
HESX1 |
Combined Pituitary Hormone Deficiencies, Genetic Forms, Hypothyroidism, Kallmann Syndrome, Pituitary Stalk Interruption Syndrome, Septo-Optic Dysplasia Spectrum |
AD,AR |
100% |
26 of 26 |
|
HS6ST1 |
Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism |
AD |
99.97% |
8 of 8 |
|
HSPA9 |
Autosomal Dominant Sideroblastic Anemia, Even-Plus Syndrome |
AD,AR |
99.72% |
14 of 14 |
|
HSPG2 |
Dyssegmental Dysplasia Silverman-Handmaker Type, Schwartz-jJmpel Syndrome |
AR |
99.41% |
68 of 69 |
|
IARS2 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
AR |
99.95% |
11 of 11 |
|
IDUA |
Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome |
AR |
99.73% |
287 of 292 |
|
IFT140 |
Jeune Syndrome, Leber Congenital Amaurosis, Retinitis Pigmentosa, Short-Rib Thoracic Dysplasia With Or Without Polydactyly |
AR |
99.97% |
81 of 81 |
|
IFT172 |
Bardet-Biedl Syndrome, Jeune Syndrome, Retinitis Pigmentosa, Short-Rib Thoracic Dysplasia With Or Without Polydactyly |
AR |
100% |
37 of 37 |
|
IFT80 |
Asphyxiating Thoracic Dystrophy, Jeune Syndrome, Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
AR |
99.96% |
16 of 16 |
|
IHH |
Acrocapitofemoral Dysplasia, Brachydactyly Type A1 |
AD,AR |
99.39% |
28 of 29 |
|
IL17RD |
Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome |
AD,AR |
99.95% |
17 of 17 |
|
KCNJ8 |
Brugada Syndrome, Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
100% |
8 of 8 |
|
KIF22 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
AD |
100% |
4 of 4 |
|
KIF7 |
Acrocallosal Syndrome, Hydrolethalus Syndrome, Macrocephaly With Multiple Epiphyseal Dysplasia And Distinctive Facies, Orofaciodigital Syndrome Type 6 |
AR |
94.91% |
47 of 50 |
|
KISS1R |
Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Central Precocious Puberty |
AD,AR |
99.41% |
42 of 43 |
|
KRAS |
Aplasia Cutis Congenita With Epibulbar Dermoids, Arteriovenous Malformation Of The Brain, Somatic,bladder Cancer, Breast Cancer, Cardiofaciocutaneous Syndrome, Encephalocraniocutaneous Lipomatosis, Familial Pancreatic Carcinoma, Gastric Cancer, Acute Myeloid Leukemia, Linear Nevus Sebaceus Syndrome, Lung Cancer, Lynch Syndrome, Noonan Syndrome, Pancreatic Cancer, RAS-associated Autoimmune Lymphoproliferative Syndrome Type IV, Schimmelpenning-Feuerstein-Mims Syndrome, Toriello-Lacassie-Droste Syndrome |
AD |
100% |
38 of 38 |
|
LBR |
Greenberg Dysplasia, Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia, Pelger-Huet Anomaly, Reynolds Syndrome |
AD,AR |
99.98% |
34 of 34 |
|
LEMD3 |
12q14 Microdeletion Syndrome, Buschke-Ollendorff Syndrome, Isolated Osteopoikilosis, Melorheostosis With Osteopoikilosis |
AD |
99.06% |
30 of 33 |
|
LIFR |
Stuve-Wiedemann Syndrome |
AR |
99.81% |
33 of 33 |
|
LMX1B |
9q33.3q34.11 Microdeletion Syndrome, Nail-Patella Syndrome, Nail-Patella-Like Renal Disease |
AD |
100% |
191 of 191 |
|
LONP1 |
Codas Syndrome |
AR |
99.84% |
21 of 21 |
|
LOXL3 |
Autosomal Recessive Stickler Syndrome |
|
99.97% |
7 of 7 |
|
LTBP3 |
Acromicric Dysplasia, Geleophysic Dysplasia, Platyspondyly With Amelogenesis Imperfecta |
AD,AR |
97.67% |
22 of 23 |
|
MAB21L2 |
Syndromic Microphthalmia |
AD,AR |
99.97% |
8 of 8 |
|
MATN3 |
Multiple Epiphyseal Dysplasia, Osteoarthritis Of Distal Interphalangeal Joints, Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related |
AD,AR |
86.16% |
24 of 25 |
|
MBTPS1 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
AR |
99.99% |
5 of 5 |
|
MMP13 |
Metaphyseal Anadysplasia, Metaphyseal Chondrodysplasia, Spahr Type, Spondyloepimetaphyseal Dysplasia, Missouri Type, Spondyloepimetaphyseal Dysplasia Type II |
AD,AR |
100% |
10 of 10 |
|
MYSM1 |
Bone Marrow Failure Syndrome, Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
AR |
98.50% |
4 of 4 |
|
NANS |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
AR |
99.97% |
12 of 12 |
|
NEU1 |
Congenital Sialidosis Type 2, Juvenile Sialidosis Type 2, Neuraminidase Deficiency, Sialidosis Type 1 |
AR |
100% |
68 of 68 |
|
NKX3-2 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
AR |
99.02% |
5 of 5 |
|
NLRC4 |
Autoinflammation With Infantile Enterocolitis, Familial Cold Autoinflammatory Syndrome |
AD |
99.54% |
15 of 15 |
|
NLRP3 |
Cinca Syndrome, Autosomal Dominant Deafness, Familial Cold Inflammatory Syndrome, Familial Cold Urticaria, Keratoendotheliitis Fugax Hereditaria, Muckle-Wells Syndrome |
AD |
100% |
152 of 152 |
|
NOTCH2 |
Acroosteolysis Dominant Type, Acroosteolysis With Osteoporosis And Changes In Skull And Mandible, Alagille Syndrome |
AD |
99.88% |
91 of 91 |
|
NPR2 |
Acromesomelic Dysplasia, Maroteaux Type, Epiphyseal Chondrodysplasia, Miura Type, Short Stature With Nonspecific Skeletal Abnormalities |
AD,AR |
100% |
81 of 81 |
|
NSMF |
Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism |
AD |
99.69% |
11 of 11 |
|
P4HB |
Cole-Carpenter Syndrome |
AD |
94.97% |
13 of 13 |
|
PAM16 |
Chondrodysplasia, Megarbane-Dagher-Melki Type |
AR |
41% |
2 of 2 |
|
PAPSS2 |
Spondyloepimetaphyseal Dysplasia, Pakistani Type |
AR |
99.97% |
27 of 27 |
|
PCYT1A |
Leber Congenital Amaurosis, Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy Syndrome |
AR |
99.98% |
22 of 22 |
|
PEX1 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome, Sensorineural Hearing Loss With Enamel Hypoplasia And Nail Defects, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder, Zellweger Syndrome |
AR |
97.02% |
126 of 134 |
|
PEX10 |
Autosomal Recessive Ataxia Due To PEX10 Deficiency, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 6A, Zellweger Syndrome |
AR |
99.76% |
29 of 32 |
|
PEX11B |
Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder, Zellweger Syndrome |
AR |
90.29% |
7 of 7 |
|
PEX12 |
Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 3A (Zellweger), Refsum Disease Infantile Form, Zellweger Syndrome |
AR |
100% |
38 of 38 |
|
PEX13 |
Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 11A (Zellwege), Peroxisome Biogenesis Disorder 11B, Zellweger Syndrome |
AR |
99.98% |
11 of 12 |
|
PEX14 |
Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 13A (Zellweger), Zellweger Syndrome |
AR |
100% |
4 of 4 |
|
PEX16 |
Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 8A (Zellweger), 8B, Zellweger Syndrome |
AR |
100% |
17 of 17 |
|
PEX19 |
Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 12A (Zellweger), Zellweger Syndrome |
AR |
100% |
5 of 5 |
|
PEX2 |
Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 5A (Zellweger), 5B, Zellweger Syndrome |
AR |
99.89% |
17 of 17 |
|
PEX26 |
Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 7A (Zellweger), 7B, Zellweger Syndrome |
AR |
100% |
29 of 29 |
|
PEX3 |
Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 10A (Zellweger), 10B, Zellweger Syndrome |
AR |
100% |
9 of 9 |
|
PEX5 |
Adrenoleukodystrophy, Cerebrohepatorenal Syndrome, Variant Types, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Rhizomelic Chondrodysplasia Punctata Type 5, Zellweger Syndrome |
AR |
100% |
12 of 12 |
|
PEX6 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome, Deafness-Enamel Hypoplasia-Nail Defects Syndrome, Heimler Syndrome, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 4A (Zellweger), 4B, Zellweger Syndrome |
AD,AR |
99.94% |
105 of 108 |
|
PEX7 |
Peroxisome Biogenesis Disorder 9B, Refsum Disease, Rhizomelic Chondrodysplasia Punctata Type 1 |
AR |
99.21% |
47 of 53 |
|
PHYH |
Refsum Disease |
AR |
100% |
34 of 34 |
|
POLE |
Colorectal Cancer, Facial Dysmorphism, Immunodeficiency, Livedo And Short Stature, IMAGE Syndrome, Intrauterine Growth Retardation, Metaphyseal Dysplasia Adrenal Hypoplasia Congenita Genital Anomalies And Immunodeficiency, Polymerase Proofreading-Related Adenomatous Polyposis |
AD,AR |
100% |
100 of 100 |
|
POLR1C |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome, Hypomyelinating Leukodystrophy, Mandibulofacial Dysostosis, Autosomal Recessive Treacher Collins Type |
AR |
99.99% |
35 of 35 |
|
POLR1D |
Treacher Collins Syndrome |
AD,AR |
100% |
23 of 23 |
|
POP1 |
Anauxetic Dysplasia |
AR |
99.88% |
6 of 6 |
|
PROK2 |
Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism |
AD |
100% |
20 of 20 |
|
PROKR2 |
Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Pituitary Stalk Interruption Syndrome, Septo-optic Dysplasia Spectrum |
AD |
100% |
64 of 64 |
|
PTEN |
Bannayan-Riley-Ruvalcaba Syndrome, Cowden Disease, Hereditary Breast And Ovarian Cancer Syndrome, Juvenile Polyposis Of Infancy, Lhermitte-Duclos Disease, Macrocephaly/Autism Syndrome, Familia Meningioma, Prostate Cancer, Proteus Syndrome, Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
AD |
99.97% |
609 of 629 |
|
PTH1R |
Blomstrand Lethal Chondrodysplasia, Dental Noneruption, Eiken Skeletal Dysplasia, Metaphyseal Chondrodysplasia, Jansen Type, Ollier Disease |
AD,AR |
100% |
48 of 48 |
|
RECQL4 |
Baller-Gerold Syndrome, Rapadilino Syndrome, Rothmund-Thomson Syndrome |
AR |
96.72% |
134 of 135 |
|
RMRP |
Anauxetic Dysplasia, Cartilage-Hair Hypoplasia, Metaphyseal Dysplasia Without Hypotrichosis, Omenn Syndrome |
AR |
na |
na |
|
RNU4ATAC |
Lowry-Wood Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Types I And III, Microcephalic Osteodysplastic Primordial Dwarfism Type I, Roifman Syndrome |
AR |
na |
na |
|
RPL10 |
X-linked Mental Retardation, X-linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome, X-linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
X,XR,G |
100% |
NA of NA |
|
RSPRY1 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome, Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
AR |
99.98% |
4 of 4 |
|
RUNX2 |
Cleidocranial Dysplasia, Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly |
AD |
73.67% |
189 of 190 |
|
SBDS |
Aplastic Anemia, Idiopathic Aplastic Anemia, Shwachman-Diamond Syndrome |
AR |
100% |
77 of 79 |
|
SEC23A |
Craniolenticulosutural Dysplasia |
AR |
100% |
4 of 4 |
|
SEC24D |
Cole-Carpenter Syndrome |
AR |
99.97% |
14 of 14 |
|
SEMA3A |
Brugada Syndrome, Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome |
AD |
100% |
29 of 29 |
|
SF3B4 |
Acrofacial Dysostosis, Nager Type, Rodriguez Type, Nager Syndrome |
AD |
94.86% |
33 of 40 |
|
SFRP4 |
Pyle Disease |
AR |
99.95% |
5 of 5 |
|
SLC10A7 |
Short Stature, Amelogenesis Imperfecta And Skeletal Dysplasia With Scoliosis |
AR |
99.99% |
8 of 8 |
|
SLC26A2 |
Achondrogenesis Type 1B, Atelosteogenesis Type II, Diastrophic Dwarfism, Diastrophic Dysplasia, Multiple Epiphyseal Dysplasia Type 4 |
AR |
99.59% |
51 of 56 |
|
SLC39A13 |
Ehlers-Danlos Syndrome Spondylodysplastic Type |
AR |
100% |
9 of 9 |
|
SMARCAL1 |
Immunoosseous Dysplasia, Schimke Type |
AR |
99.94% |
93 of 93 |
|
SOX10 |
Kallmann Syndrome, Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease, Waardenburg-Shah Syndrome |
AD |
99.74% |
139 of 147 |
|
SPRY4 |
Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism |
AD,AR |
99.72% |
13 of 13 |
|
SRP54 |
Autosomal Dominant Severe Congenital Neutropenia, Shwachman-Diamond Syndrome |
AD,AR |
99.95% |
8 of 8 |
|
STAC3 |
Native American Myopathy |
AR |
99.98% |
5 of 5 |
|
TACR3 |
Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism |
AR |
99.97% |
40 of 40 |
|
TBXAS1 |
Ghosal Hematodiaphyseal Dysplasia |
AR |
100% |
6 of 6 |
|
TCOF1 |
Treacher Collins-Franceschetti Syndrome |
AD |
100% |
326 of 327 |
|
TGFB1 |
Camurati-Engelmann Disease, Cystic Fibrosis, Inflammatory Bowel Disease, Immunodeficiency And Encephalopathy |
AD,AR |
99.75% |
24 of 24 |
|
TMEM165 |
Congenital Disorder Of Glycosylation Type IIk |
AR |
93.69% |
4 of 5 |
|
TMEM67 |
Bardet-Biedl Syndrome, Coach Syndrome, Joubert Syndrome, Joubert Syndrome With Hepatic Defect, Meckel Syndrome Type 3, Nephronophthisis, Rhyns Syndrome |
AR |
96.93% |
177 of 179 |
|
TONSL |
Sponastrime Dysplasia, Spondyloepimetaphyseal Dysplasia |
AR |
98.76% |
36 of 40 |
|
TRAPPC2 |
X-linked Spondyloepiphyseal Dysplasia Tarda |
X,XR,G |
99.58% |
NA of NA |
|
TREM2 |
Amyotrophic Lateral Sclerosis, Behavioral Variant Of Frontotemporal Dementia, Early-Onset Autosomal Dominant Alzheimer Disease, Nasu-Hakola Disease, Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy, Progressive Non-fluent Aphasia, Semantic Dementia |
AD |
100% |
55 of 55 |
|
TRIP11 |
Achondrogenesis Type 1A, Odontochondrodysplasia |
AR |
98.94% |
20 of 21 |
|
TRPV4 |
Autosomal Dominant Brachyolmia Autosomal Dominant Congenital Benign Spinal Muscular Atrophy, Primary Avascular Necrosis Of Femoral Head, Brachyrachia, Familial Digital Arthropathy-Brachydactyly, Hereditary Motor And Sensory Neuropathy Type IIC, Nonlethal Dominant Metatropic Dysplasia, Parastremmatic Dwarfism, Scapuloperoneal Spinal Muscular Atrophy, Spondyloepiphyseal Dysplasia, Maroteaux Type, Spondylometaphyseal Dysplasia, Kozlowski Type |
AD |
100% |
88 of 88 |
|
TTC21B |
Asphyxiating Thoracic Dystrophy, Jeune Syndrome, Nephronophthisis, Joubert Syndrome |
AD,AR |
100% |
67 of 67 |
|
TYROBP |
Nasu-Hakola Disease, Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy |
AR |
100% |
12 of 13 |
|
UFSP2 |
Hip Dysplasia, Beukes Type, Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
AD |
99.83% |
3 of 3 |
|
VPS33A |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
AR |
97.86% |
1 of 1 |
|
WDR11 |
Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Pituitary Stalk Interruption Syndrome |
AD,AR |
100% |
19 of 19 |
|
WDR19 |
Asphyxiating Thoracic Dystrophy, Cranioectodermal Dysplasia, Jeune Syndrome, Nephronophthisis, Senior-Loken Syndrome, |
AR |
99.96% |
47 of 49 |
|
WDR35 |
Cranioectodermal Dysplasia, Short Rib-Polydactyly Syndrome, Verma-Naumoff Type, Short-Rib Thoracic Dysplasia With Or Without Polydactyly |
AR |
100% |
31 of 33 |
|
XYLT1 |
Desbuquois Dysplasia, Desbuquois Syndrome, Pseudoxanthoma Elasticum |
AR |
92.61% |
19 of 23 |
* Herança: AD: Autossômico Dominante; AR: Recessivo autossômico; X: X vinculado; XLR: Recessivo vinculado a X; Mi: mitocondrial; Mu: Multifatorial; G: Herança gonossômica; D: Herança Digenic
Nikkel, S. (2017). Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know. Current Osteoporosis Reports, 15(5), 419-424. doi: 10.1007/s11914-017-0392-x
Calder, A. (2020). The changing world of skeletal dysplasia. The Lancet Child & Adolescent Health, 4(4), 253-254. doi: 10.1016/s2352-4642(20)30056-0
Mortier, G., Cohn, D., Cormier‐Daire, V., Hall, C., Krakow, D., & Mundlos, S. et al. (2019). Nosology and classification of genetic skeletal disorders: 2019 revision. American Journal Of Medical Genetics Part A, 179(12), 2393-2419. doi: 10.1002/ajmg.a.61366
Krakow D. (2015). Skeletal dysplasias. Clinics in perinatology, 42(2), 301–viii. https://doi.org/10.1016/j.clp.2015.03.003
Maddirevula, S., Alsahli, S., Alhabeeb, L., Patel, N., Alzahrani, F., & Shamseldin, H. et al. (2018). Expanding the phenome and variome of skeletal dysplasia. Genetics In Medicine, 20(12), 1609-1616. doi: 10.1038/gim.2018.50
Huybrechts, Y., Mortier, G., Boudin, E., & Van Hul, W. (2020). WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders. Frontiers in endocrinology, 11, 165. https://doi.org/10.3389/fendo.2020.00165
Lachman, R. S., Tiller, G. E., Graham, J. M., Jr, & Rimoin, D. L. (1992). Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update. European journal of radiology, 14(1), 1–10. https://doi.org/10.1016/0720-048x(92)90052-b
Offiah A. C. (2015). Skeletal Dysplasias: An Overview. Endocrine development, 28, 259–276. https://doi.org/10.1159/000381051
Rimoin, D. L., Cohn, D., Krakow, D., Wilcox, W., Lachman, R. S., & Alanay, Y. (2007). The skeletal dysplasias: clinical-molecular correlations. Annals of the New York Academy of Sciences, 1117, 302–309. https://doi.org/10.1196/annals.1402.072
Frias J. L. (1975). Genetic heterogeneity in skeletal dysplasias. Annals of clinical and laboratory science, 5(6), 435–439.
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