MCID: BRC038
MIFTS: 24

Brachydactyly Type B malady

Summaries for Brachydactyly Type B

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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 brachydactyly type c. 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 heart, t cells and b cells, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Aliases & Classifications for Brachydactyly Type B

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43NIH Rare Diseases, 45Novoseek
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Aliases & Descriptions:

brachydactyly type b 43
brachydactyly, type b 45


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

Drugs & Therapeutics for Brachydactyly Type B

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Brachydactyly Type B

Anatomical Context for Brachydactyly Type B

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33MalaCards
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MalaCards organs/tissues related to Brachydactyly Type B:

33
Heart, T cells, B cells

Animal Models for Brachydactyly Type B or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Brachydactyly Type B:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2ROR2, NOG
2MP:00053719.1ROR2, NOG
3MP:00053819.1ROR2, NOG
4MP:00053829.0NOG, ROR2
5MP:00053888.8NOG, ROR2

Publications for Brachydactyly Type B

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51PubMed
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Articles related to Brachydactyly Type B:

(show top 50)    (show all 107)
idTitleAuthorsYear
1
Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family. (23812741)
2013
2
Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal. (24022874)
2013
3
A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family. (21357617)
2011
4
Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. (21537345)
2011
5
Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1]. (21377971)
2011
6
Brachydactyly type A1 with short humerus and associated skeletal features. (21077205)
2010
7
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. (20691407)
2010
8
Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling. (20024692)
2010
9
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. (19640924)
2009
10
Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene. (19464397)
2009
11
Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene]. (19504437)
2009
12
Brachydactyly type A2 associated with a defect in proGDF5 processing. (18203755)
2008
13
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. (17163524)
2007
14
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. (17236141)
2007
15
Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene. (17486609)
2007
16
A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family. (16871364)
2006
17
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. (16014698)
2006
18
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. (16127465)
2005
19
Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12. (14707163)
2004
20
Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome? (15658617)
2004
21
Is brachydactyly type Ballard a variant of brachydactyly type E? (15266625)
2004
22
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. (15070926)
2004
23
Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B]. (14767912)
2004
24
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. (14523231)
2003
25
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. (12815588)
2003
26
Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. (12525541)
2003
27
Glypican 1 gene: good candidate for brachydactyly type E. (11920836)
2002
28
The mutational spectrum of brachydactyly type C. (12357473)
2002
29
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (11169564)
2001
30
Intrafamilial clinical variability in type C brachydactyly. (11837604)
2001
31
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. (11455389)
2001
32
Prenatal diagnosis of type A1 brachydactyly. (11422978)
2001
33
Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. (9973295)
1999
34
Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity. (10327250)
1999
35
Brachydactyly type A1 with abnormal menisci and scoliosis in three generations. (9546827)
1998
36
Brachydactyly type C gene maps to human chromsome 12q24. (8954778)
1996
37
Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13. (8933344)
1996
38
De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly. (7677149)
1995
39
Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings. (8024616)
1994
40
Brachydactyly type C associated with shortening of the hallux. (1583664)
1992
41
Brachydactyly type A-7 (Smorgasbord): a new entity. (2714013)
1989
42
Type C brachydactyly transmitted through four generations. (3281570)
1988
43
Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly. (3780038)
1986
44
Inheritance of brachydactyly type D. (6747264)
1984
45
Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations. (6823428)
1983
46
Bilateral femoral head collapse in an adolescent with brachydactyly (multiple epiphyseal dysplasia tarda type 1c). (7334105)
1981
47
Brachydactyly type E: A report of a family. (7404233)
1980
48
Brachydactyly type B and symphalangism in different members of a Mexican family. (1081366)
1975
49
Type C brachydactyly with limited flexion of distal interphalangeal joints. (4470000)
1974
50
Brachydactyly, type E: hereditary shortening of digits, metacarpals, metatarsals, and long bones. (4810735)
1974

Genetic Variations for Brachydactyly Type B

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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38NCBI 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

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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Sources for Brachydactyly Type B

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet