Preferred Label : Arthrogryposis, distal, type 1a;
Symbol : DA1A;
CISMeF acronym : AMCD1; DA1A; DA1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : DA1; Arthrogryposis multiplex congenita, distal, type I; Arthrogryposis, distal, type 1; AMCD1;
Included titles and symbols : DA2B4; Arthrogryposis, distal, type 2b4;
Description : The distal arthrogryposes are a group of 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 disease. The prototypic
distal arthrogryposis is type 1 (DA1), which is characterized largely by camptodactyly
and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common.
The shoulders and hips are less frequently affected. While the pattern of affected
joints is consistent, the degree to which the joints are affected is highly variable,
with equinovarus deformities ranging from mild to severe and hand involvement ranging
from isolated hypoplasia of the distal interphalangeal crease of the fifth digit to
severely clenched fists and ulnar deviation of the wrist. The various phenotypic forms
of distal arthrogryposis are classified hierarchically according to the proportion
of features they share with one another and are designated DA1 through DA10 (summary
by Bamshad et al., 2009). - Genetic Heterogeneity of Distal Arthrogryposes Distal
arthrogryposis type 1 includes DA1A, caused by mutation in the TPM2 gene, and DA1B
(614335), caused by mutation in the MYBPC1 gene (160794) on chromosome 12q23.2. Other
forms include DA2A (Freeman-Sheldon syndrome, 193700), caused by mutation in the MYH3
gene (160720) on chromosome 17p13.1; DA2B (Sheldon-Hall syndrome, 601680), caused
by mutation in MYH3, the TNNT3 gene (600692) on chromosome 11p15.5, the TNNI2 gene
(191043), also on 11p15.5, or TPM2 (190990) on chromosome 9p13; DA3 (Gordon syndrome,
114300); DA4 (609128); DA5 (108145), caused by mutation in the PIEZO2 gene (613629)
on chromosome 18p11; DA5D (615065), caused by mutation in the ECEL1 gene (605896)
on chromosome 2q36; DA6 (108200); DA7 (158300), caused by mutation in the MYH8 gene
(160741) on chromosome 17p13.1; DA8 (178110); DA9 (121050), caused by mutation in
the FBN2 gene (612570) on chromosome 5q23-q31; and DA10 (187370), which maps to chromosome
2q. See 277720 for discussion of a possible autosomal recessive form of DA2A. See
208155 for a description of Illum syndrome, which includes 'whistling face,' central
nervous system dysfunction, and calcium deposition in central nervous system and muscle.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutations in the tropomyosin 2 gene (TPM2, 190990.0001);
Prefixed ID : #108120;
Origin ID : 108120;
UMLS CUI : C0220662;
Automatic exact mappings (from CISMeF team)
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- Not associated HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
