MCID: BRC038
MIFTS: 14

Brachydactyly Type B malady

Summaries for Brachydactyly Type B

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 Brachydactyly type b is a very rare genetic condition characterized by disproportionately short fingers and toes. the ends of the second and fifth fingers are usually underdeveloped with complete absence of the fingernails. the thumb bones are always intact but are frequently flattened and/or split. the feet are usually similarly affected, but less severely. other features that may be present include webbed fingers (syndactyly) and fusion of the joints (symphalangism) and bones in the hands and feet. only a few cases have been reported in the literature. this condition is caused by mutations in the ror2 gene. most cases have been shown to be inherited in an autosomal dominant fashion. last updated: 6/6/2011

MalaCards: Brachydactyly Type B, also known as brachydactyly, type b, is related to brachydactyly and anonychia-onychodystrophy with brachydactyly type b and ectrodactyly. An important gene associated with Brachydactyly Type B is ROR2 (receptor tyrosine kinase-like orphan receptor 2), and among its related pathways is Cardiac Progenitor Differentiation. Affiliated tissues include bone, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Aliases & Classifications for Brachydactyly Type B

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42NIH Rare Diseases, 44Novoseek
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Aliases & Descriptions:

brachydactyly type b 42
brachydactyly, type b 44


Related Diseases for Brachydactyly Type B

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Brachydactyly Type B:



Diseases related to brachydactyly type b

Clinical Features for Brachydactyly Type B

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Drugs & Therapeutics for Brachydactyly Type B

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Brachydactyly Type B

Genetic Tests for Brachydactyly Type B

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Anatomical Context for Brachydactyly Type B

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32MalaCards
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MalaCards organs/tissues related to Brachydactyly Type B:

32
Bone

Animal Models for Brachydactyly Type B or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Brachydactyly Type B:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2NOG, ROR2
2MP:00053719.1NOG, ROR2
3MP:00053819.1NOG, ROR2
4MP:00053829.0ROR2, NOG
5MP:00053888.8NOG, ROR2

Publications for Brachydactyly Type B

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Genetic Variations for Brachydactyly Type B

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Expression for genes affiliated with Brachydactyly Type B

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brachydactyly Type B

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Pathways for genes affiliated with Brachydactyly Type B

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37NCBI BioSystems Database
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Pathways related to Brachydactyly Type B according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1NOG, ROR2

Compounds for genes affiliated with Brachydactyly Type B

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GO Terms for genes affiliated with Brachydactyly Type B

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16Gene Ontology
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Biological processes related to Brachydactyly Type B according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of canonical Wnt receptor signaling pathwayGO:0900909.1NOG, ROR2

Products for genes affiliated with Brachydactyly Type B

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Brachydactyly Type B

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet