MCID: ART060
MIFTS: 19

Arthrogryposis, Distal, Type 1b

Categories: Genetic diseases, Fetal diseases, Rare diseases, Muscle diseases, Ear diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 1b

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

Name: Arthrogryposis, Distal, Type 1b 54 24 13 69
Da1b 24 71
Arthrogryposis, Distal, 1b 71

Characteristics:

OMIM:

54
Miscellaneous:
some patients show only distal extremity involvement
phenotypic variability

Inheritance:
autosomal dominant


Classifications:



Summaries for Arthrogryposis, Distal, Type 1b

UniProtKB/Swiss-Prot : 71 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, and has symptoms including arthrogryposis multiplex congenita, talipes equinovarus and distal arthrogryposis. An important gene associated with Arthrogryposis, Distal, Type 1b is MYBPC1 (Myosin Binding Protein C, Slow Type). The drug Menthol has been mentioned in the context of this disorder.

Description from OMIM: 614335

Related Diseases for Arthrogryposis, Distal, Type 1b

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 1b

Symptoms via clinical synopsis from OMIM:

54

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

Skeletal- Hands:
ulnar deviation of fingers
camptodactyly

Skeletal- Feet:
vertical talus
talipes equinovarus


Clinical features from OMIM:

614335

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

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 arthrogryposis multiplex congenita 32 HP:0002804
2 talipes equinovarus 32 very rare (1%) HP:0001762
3 distal arthrogryposis 32 obligate (100%) HP:0005684
4 rocker bottom foot 32 very rare (1%) HP:0001838
5 contractures involving the joints of the feet 32 hallmark (90%) HP:0008366
6 joint contracture of the hand 32 very rare (1%) HP:0009473

Drugs & Therapeutics for Arthrogryposis, Distal, Type 1b

Drugs for Arthrogryposis, Distal, Type 1b (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


id 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

Genetic tests related to Arthrogryposis, Distal, Type 1b:

id Genetic test Affiliating Genes
1 Arthrogryposis, Distal, Type 1b 24 MYBPC1

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:

71
id 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
id 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.2566T> C (p.Tyr856His) single nucleotide variant Pathogenic rs387906658 GRCh37 Chromosome 12, 102064140: 102064140

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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