MCID: BRC038
MIFTS: 29

Brachydactyly Type B malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Brachydactyly Type B

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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 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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44NIH Rare Diseases, 46Novoseek
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Classifications:

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


Aliases & Descriptions:

brachydactyly type b 44
brachydactyly, type b 46


Related Diseases for Brachydactyly Type B

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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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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34MalaCards
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MalaCards organs/tissues related to Brachydactyly Type B:

34
Bone

Animal Models for Brachydactyly Type B or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Brachydactyly Type B:

38
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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53PubMed
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Articles related to Brachydactyly Type B:

(show all 17)
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
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. (10700182)
2000
12
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. (10986040)
2000
13
Brachydactyly type B: case report and further evidence for clinical heterogeneity. (10457848)
1999
14
Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. (9973295)
1999
15
Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity. (10327250)
1999
16
Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. (9973296)
1999
17
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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2BioGPS, 16Gene 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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51PathCards, 56Reactome, 39NCBI BioSystems Database
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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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46Novoseek
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Compounds related to Brachydactyly Type B according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine469.1NOG, ROR2

GO Terms for genes affiliated with Brachydactyly Type B

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17Gene 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 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet