ARTHROGRYPOSIS, DISTAL, TYPE 1B

General Information (adopted from Orphanet):

Synonyms, Signs: DA1B
Number of Symptoms 6
OrphanetNr:
OMIM Id: 614335
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0008366) Contractures involving the joints of the feet hallmark [HPO:skoehler] 1 / 7739
2
 (HPO:0005684) Distal arthrogryposis obligate [HPO:skoehler] 31 / 7739
3
 (HPO:0009473) Joint contracture of the hand 5 of 12 [HPO:skoehler] 84 / 7739
4
 (HPO:0001762) Talipes equinovarus 9 of 12 [HPO:skoehler] 309 / 7739
5
 (HPO:0001838) Rocker bottom foot 3 of 12 [HPO:skoehler] 85 / 7739
6
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gurnett et al. (2010) described a 5-generation family in which 12 members had distal arthrogryposis type 1. Nine of the 12 had congenital talipes equinovarus (clubfoot) and the 3 others had congenital vertical talus. The lower limb contractures ...
Molecular genetics OMIM Gurnett et al. (2010) sequenced the MYBPC1 gene, which encodes the slow-twitch skeletal muscle myosin binding protein C1, in affected members of 2 families segregating autosomal dominant distal arthrogryposis and identified a different heterozygous missense mutation in each ...