DA2B2
MCID: ART156
MIFTS: 17

Arthrogryposis, Distal, Type 2b2 (DA2B2)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 2b2

MalaCards integrated aliases for Arthrogryposis, Distal, Type 2b2:

Name: Arthrogryposis, Distal, Type 2b2 58 6
Da2b2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variation of phenotypic expression
based on reports of an indian and a chinese family (last curated may 2019)


Classifications:



External Ids:

OMIM 58 618435

Summaries for Arthrogryposis, Distal, Type 2b2

OMIM : 58 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)

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 bone and eye.

Related Diseases for Arthrogryposis, Distal, Type 2b2

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 2b2

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
clinodactyly
brachydactyly
overlapping fingers
camptodactyly
adducted thumbs
more
Skeletal Feet:
brachydactyly
sandal gap
camptodactyly
clubfoot
metatarsus varus
more
Head And Neck Mouth:
small mouth (in some patients)

Skeletal Pelvis:
hip dislocation

Skin Nails Hair Skin:
smooth palms

Head And Neck Face:
triangular face (in some patients)

Clinical features from OMIM:

618435

Drugs & Therapeutics for Arthrogryposis, Distal, Type 2b2

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Distal, Type 2b2

Genetic Tests for Arthrogryposis, Distal, Type 2b2

Anatomical Context for Arthrogryposis, Distal, Type 2b2

MalaCards organs/tissues related to Arthrogryposis, Distal, Type 2b2:

42
Bone, Eye

Publications for Arthrogryposis, Distal, Type 2b2

Variations for Arthrogryposis, Distal, Type 2b2

ClinVar genetic disease variations for Arthrogryposis, Distal, Type 2b2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNT3 NM_006757.3(TNNT3): c.188G> A (p.Arg63His) single nucleotide variant Pathogenic rs121434638 GRCh37 Chromosome 11, 1954967: 1954967
2 TNNT3 NM_006757.3(TNNT3): c.188G> A (p.Arg63His) single nucleotide variant Pathogenic rs121434638 GRCh38 Chromosome 11, 1933737: 1933737
3 TNNT3 TNNT3, ARG63CYS undetermined variant Pathogenic

Expression for Arthrogryposis, Distal, Type 2b2

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 2b2.

Pathways for Arthrogryposis, Distal, Type 2b2

GO Terms for Arthrogryposis, Distal, Type 2b2

Sources for Arthrogryposis, Distal, Type 2b2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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