Arthrogryposis, Distal, Type 2b2 (DA2B2)

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Disease Ontology 12 DOID:0111601 OMIM 56 618435 OMIM Phenotypic Series 56 PS108120

MeSH 43 D001176 MedGen 41 C5193097 CN258392 SNOMED-CT via HPO 68 14582003 157265008 17268007 249768009 249808002 263681008 29271008 397932003 43476002 43689004 68284008 77599005 more

UniProtKB/Swiss-Prot : ⁷³ Arthrogryposis, distal, 2B2: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B2 inheritance is autosomal dominant.

MalaCards based summary : Arthrogryposis, Distal, Type 2b2, is also known as da2b2. An important gene associated with Arthrogryposis, Distal, Type 2b2 is TNNT3 (Troponin T3, Fast Skeletal Type). Affiliated tissues include skeletal muscle, and related phenotypes are narrow mouth and triangular face

Disease Ontology : ¹² A distal arthrogryposis type 2B that has material basis in heterozygous mutation in TNNT3 on chromosome 11p15.5.

OMIM : ⁵⁶ Distal arthrogryposis type 2B2 (DA2B2) is characterized by congenital contractures of the distal limb joints and facial dysmorphism. Marked inter- and intrafamilial variability has been reported (summary by Daly et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see 108120. (618435)

Clinical features from OMIM:

618435

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