DA2B2
MCID: ART156
MIFTS: 24

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 56 73 29 6
Da2b2 56 12 73
Distal Arthrogryposis Type 2b2 12
Arthrogryposis, Distal, 2b2 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
arthrogryposis, distal, type 2b2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111601
OMIM 56 618435
OMIM Phenotypic Series 56 PS108120
MeSH 43 D001176

Summaries for Arthrogryposis, Distal, Type 2b2

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)

Related Diseases for Arthrogryposis, Distal, Type 2b2

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 2b2

Human phenotypes related to Arthrogryposis, Distal, Type 2b2:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 narrow mouth 31 very rare (1%) HP:0000160
2 triangular face 31 very rare (1%) HP:0000325
3 metatarsus adductus 31 HP:0001840
4 short toe 31 HP:0001831
5 talipes equinovarus 31 HP:0001762
6 brachydactyly 31 HP:0001156
7 sandal gap 31 HP:0001852
8 hip dislocation 31 HP:0002827
9 adducted thumb 31 HP:0001181
10 tapered finger 31 HP:0001182
11 ulnar deviation of the wrist 31 HP:0003049
12 overlapping fingers 31 HP:0010557
13 camptodactyly 31 HP:0012385
14 talipes equinovalgus 31 HP:0001772
15 clinodactyly 31 HP:0030084
16 broad hallux 31 HP:0010055

Symptoms via clinical synopsis from OMIM:

56
Skeletal Hands:
brachydactyly
overlapping fingers
camptodactyly
clinodactyly
adducted thumbs
more
Skeletal Pelvis:
hip dislocation

Head And Neck Mouth:
small mouth (in some patients)

Skeletal Feet:
brachydactyly
sandal gap
camptodactyly
metatarsus varus
vertical talus
more
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

Anatomical Context for Arthrogryposis, Distal, Type 2b2

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

40
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. 56 6
25337069 2014
2
A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus. 6 56
21402185 2011
3
Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. 56 6
19142688 2009
4
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. 56 6
12865991 2003
5
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. 56
17194691 2007
6
A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. 6
10525521 1999

Variations for Arthrogryposis, Distal, Type 2b2

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

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNNT3 TNNT3, ARG63CYSundetermined variant Pathogenic 631472
2 TNNT3 NM_006757.4(TNNT3):c.188G>A (p.Arg63His)SNV Pathogenic 8913 rs121434638 11:1954967-1954967 11:1933737-1933737
3 TNNT3 NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys)SNV Pathogenic/Likely pathogenic 31874 rs199474721 11:1954966-1954966 11:1933736-1933736

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, Type 2b2:

73
# Symbol AA change Variation ID SNP ID
1 TNNT3 p.Arg74His VAR_026453 rs121434638
2 TNNT3 p.Arg74Cys VAR_082280 rs199474721

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....