MCID: BRC038
MIFTS: 29

Brachydactyly Type B malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Brachydactyly Type B

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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 based summary: Brachydactyly Type B, also known as brachydactyly, type b, is related to brachydactyly and robinow syndrome. An important gene associated with Brachydactyly Type B is ROR2 (receptor tyrosine kinase-like orphan receptor 2), and among its related pathways are Signaling by GPCR and Cardiac Progenitor Differentiation. The compound tyrosine have been mentioned in the context of this disorder. 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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Sources:
42NIH Rare Diseases, 44Novoseek
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Brachydactyly Type B, Aliases & Descriptions:

Name: Brachydactyly Type B 42
 
Brachydactyly, Type B 44


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Related Diseases for Brachydactyly Type B

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Graphical network of diseases related to Brachydactyly Type B:



Diseases related to brachydactyly type b

Symptoms for Brachydactyly Type B

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Drugs & Therapeutics for Brachydactyly Type B

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Drug clinical trials:

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Genetic Tests for Brachydactyly Type B

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Anatomical Context for Brachydactyly Type B

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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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MGI Mouse Phenotypes related to Brachydactyly Type B:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4NOG, ROR2
2MP:00053719.3NOG, ROR2
3MP:00053829.3ROR2, NOG
4MP:00053889.3NOG, ROR2
5MP:00053819.2NOG, ROR2
6MP:00053919.2ROR2, NOG
7MP:00053799.1NOG, ROR2
8MP:00053899.1NOG, ROR2
9MP:00053909.0NOG, ROR2
10MP:00053808.8NOG, ROR2

Publications for Brachydactyly Type B

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Articles related to Brachydactyly Type B:

(show all 16)
idTitleAuthorsYear
1
A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B. (23238279)
2013
2
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. (20962035)
2011
3
Pregnancy after preimplantation genetic diagnosis for brachydactyly type B. (19146779)
2009
4
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. (19640924)
2009
5
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. (17163524)
2007
6
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. (17668388)
2007
7
Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. (17061261)
2006
8
Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B]. (14767912)
2004
9
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. (12815588)
2003
10
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. (10932186)
2000
11
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. (10986040)
2000
12
Brachydactyly type B: case report and further evidence for clinical heterogeneity. (10457848)
1999
13
Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. (9973295)
1999
14
Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity. (10327250)
1999
15
Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. (9973296)
1999
16
Brachydactyly type B and symphalangism in different members of a Mexican family. (1081366)
1975

Variations for Brachydactyly Type B

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Expression for genes affiliated with Brachydactyly Type B

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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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Pathways related to Brachydactyly Type B according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1NOG, ROR2
29.1NOG, ROR2

Compounds for genes affiliated with Brachydactyly Type B

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44Novoseek
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Compounds related to Brachydactyly Type B according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine449.1NOG, ROR2

GO Terms for genes affiliated with Brachydactyly Type B

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

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

Products for genes affiliated with Brachydactyly Type B

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet