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MCID: BRC006
MIFTS: 48

Brachydactyly malady
90 genes, 4 tissues, 469 related diseases, clinical trials.

Summaries for Brachydactyly

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43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 b and short stature. 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 heart, thyroid and t cells, and related mouse phenotypes are vision/eye and limbs/digits/tail.

Wikipedia:64 Brachydactyly (Greek βραχύς = \"short\" plus δάκτυλος = \"finger\"), is a medical term... more...

Description from OMIM:47 112500, 611377, 113100, 113300, 113000 113200, 613382, 112600 more

Aliases & Classifications for Brachydactyly

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM
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Aliases & Descriptions:

brachydactyly 8 43 10 45 61


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 with hypertension
brachydactyly type a7 brachydactyly type b
brachydactyly type e brachydactyly type a1, b
brachydactyly, type b2 brachydactyly, type e2
brachydactyly, type b1 brachydactyly type d
brachydactyly, type a1, c brachydactyly of toes
brachydactyly of toes, unilateral brachydactyly of toes, bilateral

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

(show top 50)    (show all 469)
idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly type b31.1ROR2, NOG
2short stature30.6ROR2, FGD1, GDF5
3brachydactyly type a130.4BDA1B, IHH
4brachydactyly type a230.4BMPR1B, GDF5
5brachydactyly-syndactyly syndrome30.3LPCAT3, HOXD13
6syndactyly30.2BMPR1B, GDF5, HOXD13, HOXD12, ROR2, NOG
7polydactyly30.0HOXD12, HOXD11, HOXD13, IHH
8dwarfism29.9PTHLH
9proximal symphalangism29.8GDF5, NOG
10brachydactyly type c10.6
11brachydactyly type d10.6
12mental retardation10.5
13brachydactyly type e10.4
14temtamy preaxial brachydactyly syndrome10.3
15short syndrome10.3
16n syndrome10.3
17hirschsprung disease type d brachydactyly10.3
18fibular hypoplasia and complex brachydactyly10.2
19cryptomicrotia brachydactyly syndrome10.2
20brachydactyly, type b210.2
21brachydactyly type a510.2
22coloboma of macula with type b brachydactyly10.2
23brachydactyly type a410.2
24robinow syndrome10.2
25brachydactyly types b and e combined10.2
26brachydactyly long thumb type10.2
272q37 microdeletion syndrome10.2
28sugarman brachydactyly10.2
29spondyloepiphyseal dysplasia-brachydactyly and distinctive speech10.2
30brachydactyly, type b110.2
31digital arthropathy-brachydactyly, familial10.2
32brachydactyly mononen type10.1
33exostoses anetodermia brachydactyly type e10.1
34metaphyseal dysplasia maxillary hypoplasia brachydactyly10.1
35brachydactyly - preaxial hallux varus10.1
36anonychia-onychodystrophy with brachydactyly type b and ectrodactyly10.1
37brachydactyly type a610.1
38brachydactyly with hypertension10.1
39brachydactyly anonychia10.1
40brachydactyly type a710.1
41temtamy syndrome10.1
42spondyloperipheral dysplasia10.1
43thumb stiff brachydactyly mental retardation10.1
44liebenberg syndrome10.1
45metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly10.1
46brachydactyly - arterial hypertension10.1
47growth deficiency - brachydactyly - dysmorphism10.1
48ulnar/fibula ray defect - brachydactyly10.1
49microcephaly10.0
50micro syndrome10.0

Graphical network of the top 20 diseases related to Brachydactyly:



Diseases related to brachydactyly

Clinical Features for Brachydactyly

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47OMIM
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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, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Brachydactyly

Drug clinical trials:

Search ClinicalTrials for Brachydactyly

Search NIH Clinical Center for Brachydactyly

Search CenterWatch for Brachydactyly

Genetic Tests for Brachydactyly

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Anatomical Context for Brachydactyly

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33MalaCards
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MalaCards organs/tissues related to Brachydactyly:

33
Heart, Thyroid, T cells, B cells

Animal Models for Brachydactyly or affiliated genes

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

37 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
vision/eye phenotype
MP:000539110.6BMPR1B, CHSY1, IHH, HOXD13, ROR2, NOG
2
limbs/digits/tail phenotype
MP:000537110.5PTHLH, BMPR1B, CHSY1, IHH, GDF5, HOXD13
3
reproductive system phenotype
MP:000538910.5BMPR1B, GDF5, HOXD13, HOXD10, HOXD11, HOXD9
4
skeleton phenotype
MP:000539010.5HOXD13, GDF5, IHH, CHSY1, BMPR1B, HOXD10
5
endocrine/exocrine gland phenotype
MP:000537910.5BMPR1B, IHH, HOXD13, HOXD9, ROR2, NOG
6
craniofacial phenotype
MP:000538210.5BMPR1B, CHSY1, IHH, ROR2, NOG, PTHLH
7
nervous system phenotype
MP:000363110.5BMPR1B, IHH, HOXD13, HOXD10, HOXD11, HOXD9
8
mortality/aging
MP:001076810.5HOXD10, HOXD13, GDF5, IHH, BMPR1B, HOXD11
9
embryogenesis phenotype
MP:000538010.4BMPR1B, IHH, HOXD13, HOXD11, HOXD12, ROR2
10
muscle phenotype
MP:000536910.4NOG, HOXD12, HOXD9, HOXD10, HOXD13, IHH
11
renal/urinary system phenotype
MP:000536710.4HOXD13, HOXD10, HOXD11, HOXD9, NOG, PTHLH
12
cellular phenotype
MP:000538410.2BMPR1B, IHH, HOXD10, HOXD11, HOXD9, EIF6
13
digestive/alimentary phenotype
MP:000538110.1IHH, HOXD13, HOXD12, ROR2, NOG, PTHLH

Publications for Brachydactyly

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51PubMed
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Articles related to Brachydactyly:

(show top 50)    (show all 301)
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
Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene]. (19504437)
2009
12
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. (17163524)
2007
13
Brachydactyly short-stature hypertension syndrome: a case with associated vascular malformations. (16369843)
2006
14
A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family. (16871364)
2006
15
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. (15841179)
2005
16
Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism. (15832105)
2005
17
A Japanese girl with mental retardation, severe microretrognathia, and brachydactyly: another case of the Gurrieri syndrome. (12687677)
2003
18
Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation. (11857553)
2002
19
The mutational spectrum of brachydactyly type C. (12357473)
2002
20
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (11169564)
2001
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

Search GEO for disease gene expression data for Brachydactyly.

Pathways for genes affiliated with Brachydactyly

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38NCBI BioSystems Database, 56SinoBiological, 30KEGG
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Pathways related to Brachydactyly according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Signaling events mediated by the Hedgehog family38
10.4PTHLH, IHH
2
TGF-beta Signaling Pathway56
10.4NOG, GDF5, BMPR1B
3
TGF-beta signaling pathway30
10.4NOG, GDF5, BMPR1B

Compounds for genes affiliated with Brachydactyly

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45Novoseek, 60Tocris Bioscience
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Compounds related to Brachydactyly according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclopamine45 6011.4NOG, 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
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
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