MCID: BRC006
MIFTS: 48

Brachydactyly malady

Summaries for Brachydactyly

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Brachydactyly is a general term characterized by disproportionately short fingers and toes. it can occur as an isolated finding or as part of a complex syndrome. many different types of brachydactyly have been identified. some result in short stature and others are associated with other hand malformations, such as syndactyly, polydactyly, or reduction defects. the underlying genetic cause of most isolated forms of brachydactyly and many of the syndromic forms has been identified. many of the isolated forms are inherited in an autosomal dominant manner with variable expressivity and reduced penetrance. treatment depends on the specific type of brachydactyly, but may include plastic surgery, physical therapy and/or ergotherapy. last updated: 9/4/2013

MalaCards: Brachydactyly is related to brachydactyly type a1 and brachydactyly type a2. An important gene associated with Brachydactyly is GDF5 (growth differentiation factor 5), and among its related pathways are Signaling events mediated by the Hedgehog family and TGF-beta Signaling Pathway. The compound cyclopamine have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and thyroid, and related mouse phenotypes are vision/eye and limbs/digits/tail.

Wikipedia:63 Brachydactyly (Greek βραχύς = \"short\" plus δάκτυλος = \"finger\"), is a medical term... more...

Description from OMIM:46 112500, 611377, 113100, 113300, 113000 113200, 613382, 112600 more

Aliases & Classifications for Brachydactyly

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM
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Aliases & Descriptions:

brachydactyly 8 42 10 44 60


External Ids:

Disease Ontology8 DOID:0050581

Related Diseases for Brachydactyly

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17GeneCards, 18GeneDecks
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Diseases in the Brachydactyly Type A1 family:

brachydactyly Brachydactyly Type A5
Brachydactyly Type A2 Brachydactyly Type A3
Brachydactyly Type A4 Brachydactyly Type A6
Brachydactyly Type C Brachydactyly Type A7
Brachydactyly Type B Brachydactyly Type E
Brachydactyly Type A1, B Hoxd13-Related Brachydactyly
Brachydactyly, Type B2 Brachydactyly, Type E2
Brachydactyly, Type B1 Brachydactyly Type D
Brachydactyly, Type A1, C Brachydactyly of Toes

Diseases related to Brachydactyly via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 465)
idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly type a130.4BDA1B, IHH
2brachydactyly type a230.4BMPR1B, GDF5
3brachydactyly-syndactyly syndrome30.3LPCAT3, HOXD13
4syndactyly30.2BMPR1B, GDF5, HOXD13, HOXD12, ROR2, NOG
5polydactyly30.0HOXD12, HOXD11, HOXD13, IHH
6brachydactyly type b30.0ROR2, NOG
7dwarfism29.9PTHLH
8proximal symphalangism29.8GDF5, NOG
9hypertension10.4
10temtamy preaxial brachydactyly syndrome10.3
11fibular hypoplasia and complex brachydactyly10.3
12cryptomicrotia brachydactyly syndrome10.3
13brachydactyly type c10.2
14hirschsprung disease type d brachydactyly10.2
15brachydactyly, type b210.2
16coloboma of macula with type b brachydactyly10.2
17brachydactyly type a410.2
18brachydactyly type a510.2
19brachydactyly types b and e combined10.2
20brachydactyly long thumb type10.2
21sugarman brachydactyly10.1
22brachydactyly type e10.1
23spondyloepiphyseal dysplasia-brachydactyly and distinctive speech10.1
24brachydactyly, type b110.1
252q37 microdeletion syndrome10.1
26brachydactyly mononen type10.1
27exostoses anetodermia brachydactyly type e10.1
28brachydactyly type d10.1
29digital arthropathy-brachydactyly, familial10.1
30anonychia-onychodystrophy with brachydactyly type b and ectrodactyly10.1
31brachydactyly type a610.1
32brachydactyly with hypertension10.1
33brachydactyly type a710.1
34thumb stiff brachydactyly mental retardation10.1
35metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly10.1
36growth deficiency - brachydactyly - dysmorphism10.1
37ulnar/fibula ray defect - brachydactyly10.1
38microcephaly10.0
39craniosynostosis10.0
40paraplegia10.0
41pseudohypoparathyroidism10.0
42brachydactyly type a310.0
43biemond syndrome10.0
44stratton-garcia-young syndrome10.0
45metaphyseal dysplasia maxillary hypoplasia brachydactyly10.0
46brachydactyly type a1, b10.0
47brachydactyly, type e210.0
48liebenberg syndrome10.0
49weill-marchesani syndrome 1, recessive10.0
50chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia10.0

Graphical network of the top 20 diseases related to Brachydactyly:



Diseases related to brachydactyly

Clinical Features for Brachydactyly

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46OMIM
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Clinical features from OMIM:

112500,611377,113100,113300,113000,113200,613382,112600

Drugs & Therapeutics for Brachydactyly

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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

Genetic Tests for Brachydactyly

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Anatomical Context for Brachydactyly

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32MalaCards
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MalaCards organs/tissues related to Brachydactyly:

32
Bone, Heart, Thyroid, Testes

Animal Models for Brachydactyly or affiliated genes

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36MGI
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Publications for Brachydactyly

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50PubMed
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Articles related to Brachydactyly:

(show top 50)    (show all 300)
idTitleAuthorsYear
1
Brachydactyly E: isolated or as a feature of a syndrome. (24028571)
2013
2
A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B. (23238279)
2013
3
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. (23483675)
2013
4
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson. (22406540)
2012
5
Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome. (22753018)
2012
6
Takotsubo syndrome and brachydactyly: a new heart-hand syndrome? (21448545)
2011
7
Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. (21537345)
2011
8
Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1]. (21377971)
2011
9
Retraction: Clinical features study of a brachydactyly type A1 family and the disease-causing gene location. (19806586)
2009
10
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. (19640924)
2009
11
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. (19639023)
2009
12
Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene]. (19504437)
2009
13
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. (17163524)
2007
14
Brachydactyly short-stature hypertension syndrome: a case with associated vascular malformations. (16369843)
2006
15
A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family. (16871364)
2006
16
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. (15841179)
2005
17
Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism. (15832105)
2005
18
Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation. (11857553)
2002
19
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (11169564)
2001
20
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. (10986040)
2000
21
Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. (9973296)
1999
22
Clinical and molecular studies of brachydactyly type D. (10398270)
1999
23
A boy with severe manifestations of type A1 brachydactyly. (9546826)
1998
24
Absence of hypertensive retinopathy in a Turkish kindred with autosomal dominant hypertension and brachydactyly. (9930264)
1998
25
Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension. (9696728)
1998
26
Brachydactyly in a child with duplication-deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes? (9212188)
1997
27
Brachydactyly and short stature in a mother and her daughter with a fragile site at 16q22. (9219009)
1997
28
Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome. (8739978)
1996
29
Exencephaly in autosomal dominant brachydactyly syndrome. (7740003)
1995
30
De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly. (7677149)
1995
31
Characteristic facies in type B brachydactyly? (7981857)
1994
32
A distinct autosomal dominant craniosynostosis-brachydactyly syndrome. (7981856)
1994
33
Can cytomegalovirus cause brachydactyly? A case report and review of the literature. (8392455)
1993
34
Brachydactyly in acrosyndactyly. (1847397)
1991
35
Type A1 brachydactyly, dwarfism, ptosis, mixed partial hearing loss, microcephaly, and mental retardation. (2750787)
1989
36
Brachydactyly, a possible inherited anomaly at prehistoric Prince Rupert Harbour. (3046372)
1988
37
Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly. (3780038)
1986
38
Familial colorectal cancer and hereditary brachydactyly. (6784851)
1981
39
Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister. (7252997)
1981
40
Brachydactyly type E: A report of a family. (7404233)
1980
41
Brachydactyly and polydactyly with dermal ridge dissociation and ridge hypoplasia. (513089)
1979
42
Brachydactyly C, short stature, and hip dysplasia. (391043)
1979
43
The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis. (870942)
1977
44
Brachydactyly and pseudo-pseudohypoparathyroidism. (5703222)
1968
45
Hereditary brachydactyly and hip disease. Unusual radiological and dermatoglyphic findings in a kindred. (5647298)
1968
46
Hereditary brachydactyly. (5961825)
1966
47
Spherophakia with brachydactyly; comparison with Marfan's syndrome. (13104565)
1953
48
A case of brachydactyly (type Brailsford). (14895884)
1951
49
Variability in the expression of the gene for brachydactyly in man. (20281720)
1946
50
Familial Occurrence of Microcorneae Associated with Brachydactyly. (19989596)
1933

Genetic Variations for Brachydactyly

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Expression for genes affiliated with Brachydactyly

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

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Pathways for genes affiliated with Brachydactyly

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37NCBI BioSystems Database, 55SinoBiological, 29KEGG
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Pathways related to Brachydactyly according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4PTHLH, IHH
210.4NOG, GDF5, BMPR1B
310.4NOG, GDF5, BMPR1B

Compounds for genes affiliated with Brachydactyly

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44Novoseek, 59Tocris Bioscience
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Compounds related to Brachydactyly according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclopamine44 5911.4NOG, IHH

GO Terms for genes affiliated with Brachydactyly

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1hindlimb morphogenesisGO:03513710.7HOXD9, HOXD10, GDF5
2embryonic digit morphogenesisGO:04273310.7HOXD13, HOXD11, HOXD12, NOG
3cartilage developmentGO:05121610.7NOG, GDF5, IHH
4skeletal system developmentGO:00150110.7PTHLH, NOG, HOXD12, HOXD13, IHH, BMPR1B
5somite developmentGO:06105310.7IHH, NOG
6dorsal/ventral pattern formationGO:00995310.7BMPR1B, HOXD11, NOG
7proximal/distal pattern formationGO:00995410.7HOXD9, HOXD11, HOXD10
8anterior/posterior pattern specificationGO:00995210.7HOXD13, HOXD10, HOXD11, HOXD9
9forelimb morphogenesisGO:03513610.7HOXD10, GDF5
10peripheral nervous system neuron developmentGO:04893510.6HOXD9, HOXD10
11embryonic skeletal joint morphogenesisGO:06027210.6HOXD11, NOG
12positive regulation of chondrocyte differentiationGO:03233210.6HOXD11, GDF5
13phosphatidylserine acyl-chain remodelingGO:03615010.5LPCAT3, MBOAT1
14positive regulation of transcription from RNA polymerase II promoterGO:04594410.5IHH, HOXD13, HOXD10, HOXD9, NOG
15cartilage condensationGO:00150210.5ROR2, BMPR1B
16embryonic forelimb morphogenesisGO:03511510.4HOXD9, HOXD11
17phosphatidylethanolamine acyl-chain remodelingGO:03615210.3LPCAT3, MBOAT1
18multicellular organismal developmentGO:00727510.1HOXD13, HOXD12, FGD1, ROR2

Molecular functions related to Brachydactyly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:04356510.4HOXD12, HOXD9, HOXD11, HOXD10, HOXD13

Products for genes affiliated with Brachydactyly

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Sources for Brachydactyly

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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