ARTHROGRYPOSIS, DISTAL, TYPE 1A

General Information (adopted from Orphanet):

Synonyms, Signs: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I
ARTHROGRYPOSIS, DISTAL, TYPE 1
AMCD1
DA1
DA1A
Number of Symptoms 19
OrphanetNr:
OMIM Id: 108120
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003273) Hip contracture 30 / 7739
2
(HPO:0006380) Knee flexion contracture 56 / 7739
3
(HPO:0002987) Elbow flexion contracture 64 / 7739
4
(HPO:0001762) Talipes equinovarus 309 / 7739
5
(HPO:0003184) Decreased hip abduction 7 / 7739
6
(HPO:0009742) Stiff shoulders 2 / 7739
7
(HPO:0001838) Rocker bottom foot 85 / 7739
8
(HPO:0001848) Calcaneovalgus deformity 12 / 7739
9
(HPO:0012385) Camptodactyly 113 / 7739
10
(HPO:0001836) Camptodactyly of toe 27 / 7739
11
(HPO:0000954) Single transverse palmar crease 162 / 7739
12
(HPO:0001374) Congenital hip dislocation 51 / 7739
13
(HPO:0100490) Camptodactyly of finger 212 / 7739
14
(HPO:0001032) Absent distal interphalangeal creases 9 / 7739
15
(HPO:0001215) Camptodactyly of 2nd-5th fingers 8 / 7739
16
(OMIM) Ulnar deviation 5 / 7739
17
(OMIM) Normal intelligence 81 / 7739
18
(OMIM) Tightly clenched fists (neonate) 1 / 7739
19
(OMIM) Mild scoliosis 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The distal arthrogryposes are a group of autosomal dominant disorders that mainly involve the distal parts of the limbs. They are characterized by congenital contractures of 2 or more different body areas without a primary neurologic or muscle ...
Clinical Description OMIM Arthrogryposis is a highly heterogeneous category (Hall et al., 1977). The classic form of peripheral AMC, called amyoplasia by Hall et al. (1977), is always sporadic. An overall recurrence risk of about 5% results from admixture of cases ...
Molecular genetics OMIM Sung et al. (2003) demonstrated that DA1 can be caused by substitution of a highly conserved amino acid residue in TPM2, the gene encoding beta-tropomyosin (190990.0001). The authors had found that DA2B (601680) can be caused by mutations ...