MCID: ART060
MIFTS: 20

Arthrogryposis, Distal, Type 1b

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

Aliases & Classifications for Arthrogryposis, Distal, Type 1b

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

Name: Arthrogryposis, Distal, Type 1b 57 13 40 73
Da1b 57 75
Arthrogryposis, Distal, 1b 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic variability
some patients show only distal extremity involvement


HPO:

32
arthrogryposis, distal, type 1b:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability


Classifications:



Summaries for Arthrogryposis, Distal, Type 1b

UniProtKB/Swiss-Prot : 75 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). The drug Menthol has been mentioned in the context of this disorder. Related phenotypes are talipes equinovarus and rocker bottom foot

Description from OMIM: 614335

Related Diseases for Arthrogryposis, Distal, Type 1b

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 1b

Symptoms via clinical synopsis from OMIM:

57
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:

32 (showing 7, show less)
# Description HPO Frequency HPO Source Accession
1 talipes equinovarus 32 very rare (1%) HP:0001762
2 rocker bottom foot 32 very rare (1%) HP:0001838
3 arthrogryposis multiplex congenita 32 HP:0002804
4 distal arthrogryposis 32 obligate (100%) HP:0005684
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
7 camptodactyly 32 HP:0012385

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:

75 (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 4, 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.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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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