DA1B
MCID: ART060
MIFTS: 19

Arthrogryposis, Distal, Type 1b (DA1B)

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 1b

MalaCards integrated aliases for Arthrogryposis, Distal, Type 1b:

Name: Arthrogryposis, Distal, Type 1b 58 13 41 74
Da1b 58 76
Arthrogryposis, Distal, 1b 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic variability
some patients show only distal extremity involvement


HPO:

33
arthrogryposis, distal, type 1b:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Arthrogryposis, Distal, Type 1b

UniProtKB/Swiss-Prot : 76 Arthrogryposis, distal, 1B: 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 1 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.

MalaCards based summary : Arthrogryposis, Distal, Type 1b, is also known as da1b. An important gene associated with Arthrogryposis, Distal, Type 1b is MYBPC1 (Myosin Binding Protein C, Slow Type). Related phenotypes are distal arthrogryposis and contractures involving the joints of the feet

Description from OMIM: 614335

Related Diseases for Arthrogryposis, Distal, Type 1b

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 1b

Human phenotypes related to Arthrogryposis, Distal, Type 1b:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 distal arthrogryposis 33 obligate (100%) HP:0005684
2 contractures involving the joints of the feet 33 hallmark (90%) HP:0008366
3 talipes equinovarus 33 very rare (1%) HP:0001762
4 rocker bottom foot 33 very rare (1%) HP:0001838
5 joint contracture of the hand 33 very rare (1%) HP:0009473
6 arthrogryposis multiplex congenita 33 HP:0002804
7 camptodactyly 33 HP:0012385

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
talipes equinovarus
vertical talus

Muscle Soft Tissue:
reduced extensor strength (in some patients)
type 1 fibers smaller than type ii fibers

Skeletal Hands:
camptodactyly
ulnar deviation of fingers

Clinical features from OMIM:

614335

Drugs & Therapeutics for Arthrogryposis, Distal, Type 1b

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741

Search NIH Clinical Center for Arthrogryposis, Distal, Type 1b

Genetic Tests for Arthrogryposis, Distal, Type 1b

Anatomical Context for Arthrogryposis, Distal, Type 1b

Publications for Arthrogryposis, Distal, Type 1b

Variations for Arthrogryposis, Distal, Type 1b

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, Type 1b:

76
# Symbol AA change Variation ID SNP ID
1 MYBPC1 p.Trp211Arg VAR_067045 rs387906657
2 MYBPC1 p.Tyr849His VAR_067046 rs387906658
3 MYBPC1 p.Glu161Lys VAR_075219

ClinVar genetic disease variations for Arthrogryposis, Distal, Type 1b:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYBPC1 NM_002465.3(MYBPC1): c.706T> C (p.Trp236Arg) single nucleotide variant Pathogenic rs387906657 GRCh37 Chromosome 12, 102036237: 102036237
2 MYBPC1 NM_002465.3(MYBPC1): c.706T> C (p.Trp236Arg) single nucleotide variant Pathogenic rs387906657 GRCh38 Chromosome 12, 101642459: 101642459
3 MYBPC1 NM_002465.3(MYBPC1): c.2566T> C (p.Tyr856His) single nucleotide variant Pathogenic rs387906658 GRCh37 Chromosome 12, 102064140: 102064140
4 MYBPC1 NM_002465.3(MYBPC1): c.2566T> C (p.Tyr856His) single nucleotide variant Pathogenic rs387906658 GRCh38 Chromosome 12, 101670362: 101670362
5 MYBPC1 NM_001254718.1(MYBPC1): c.3203G> A (p.Cys1068Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 101678216: 101678216
6 MYBPC1 NM_001254718.1(MYBPC1): c.3203G> A (p.Cys1068Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 102071994: 102071994

Expression for Arthrogryposis, Distal, Type 1b

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 1b.

Pathways for Arthrogryposis, Distal, Type 1b

GO Terms for Arthrogryposis, Distal, Type 1b

Sources for Arthrogryposis, Distal, Type 1b

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
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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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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