MCID: ART060
MIFTS: 20

Arthrogryposis, Distal, Type 1b

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

Aliases & Classifications for Arthrogryposis, Distal, Type 1b

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

Name: Arthrogryposis, Distal, Type 1b 53 13 69
Da1b 53 71
Arthrogryposis, Distal, 1b 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic variability
some patients show only distal extremity involvement


HPO:

31
arthrogryposis, distal, type 1b:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability


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 rocker bottom foot. 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:

53
Skeletal Hands:
camptodactyly
ulnar deviation of fingers

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

Skeletal Feet:
talipes equinovarus
vertical talus


Clinical features from OMIM:

614335

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

31 (showing 7, show less)
# Description HPO Frequency HPO Source Accession
1 arthrogryposis multiplex congenita 31 HP:0002804
2 talipes equinovarus 31 very rare (1%) HP:0001762
3 rocker bottom foot 31 very rare (1%) HP:0001838
4 camptodactyly 31 HP:0012385
5 contractures involving the joints of the feet 31 hallmark (90%) HP:0008366
6 joint contracture of the hand 31 very rare (1%) HP:0009473
7 distal arthrogryposis 31 obligate (100%) HP:0005684

Drugs & Therapeutics for Arthrogryposis, Distal, Type 1b

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

(showing 1, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666

Interventional clinical trials:

(showing 1, show less)

# 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:

71 (showing 3, show less)
# 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 (showing 2, show less)
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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