DA2B2
MCID: ART156
MIFTS: 22

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, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 2b2

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

Name: Arthrogryposis, Distal, Type 2b2 57 74 29 6
Da2b2 57 74
Arthrogryposis, Distal, 2b2 74

Characteristics:

OMIM:

57
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:

MeSH 44 D001176
MedGen 42 CN258392

Summaries for Arthrogryposis, Distal, Type 2b2

UniProtKB/Swiss-Prot : 74 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.

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.

OMIM : 57 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)

Related Diseases for Arthrogryposis, Distal, Type 2b2

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 2b2

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
brachydactyly
camptodactyly
overlapping fingers
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

Genetic tests related to Arthrogryposis, Distal, Type 2b2:

# Genetic test Affiliating Genes
1 Arthrogryposis, Distal, Type 2b2 29 TNNT3

Anatomical Context for Arthrogryposis, Distal, Type 2b2

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

41
Skeletal Muscle

Publications for Arthrogryposis, Distal, Type 2b2

Articles related to Arthrogryposis, Distal, Type 2b2:

# Title Authors PMID Year
1
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis. 8 71
25337069 2014
2
A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus. 8 71
21402185 2011
3
Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. 8 71
19142688 2009
4
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. 8 71
12865991 2003
5
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. 8
17194691 2007
6
A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. 71
10525521 1999

Variations for Arthrogryposis, Distal, Type 2b2

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TNNT3 NM_006757.4(TNNT3): c.188G> A (p.Arg63His) single nucleotide variant Pathogenic rs121434638 11:1954967-1954967 11:1933737-1933737
2 TNNT3 NM_006757.4(TNNT3): c.187C> T (p.Arg63Cys) single nucleotide variant Pathogenic rs199474721 11:1954966-1954966 11:1933736-1933736
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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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