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:

Search ClinicalTrials for Brachydactyly

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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
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability. (24357125)
2013
2
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. (23073310)
2013
3
Non-syndromic brachydactyly, known as Shamoji-yubi or Mamushi-yubi in Japan. (24081602)
2013
4
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. (23290074)
2013
5
A novel mutation in CDMP1 causes brachydactyly type C with 'angel- shaped phalanx'. A genotype-phenotype correlation in the mutational spectrum. (22828468)
2012
6
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2. (22821680)
2012
7
Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. (22233338)
2012
8
Deletion and point mutations of PTHLH cause brachydactyly type E. (20170896)
2010
9
Mutations in GDF5 presenting as semidominant brachydactyly A1. (20683927)
2010
10
Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures. (20009591)
2010
11
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. (21129727)
2010
12
Pregnancy after preimplantation genetic diagnosis for brachydactyly type B. (19146779)
2009
13
Undergrowth: brachydactyly. (19380063)
2009
14
The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src. (18365018)
2008
15
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. (16014698)
2006
16
Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis. (15565340)
2005
17
Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome? (15658617)
2004
18
Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis. (15621880)
2004
19
Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. (12548386)
2003
20
Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome. (14564152)
2003
21
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. (14523231)
2003
22
Arterial hypertension with brachydactyly in a 15-year-old boy. (12811651)
2003
23
A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly. (11200993)
2001
24
Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles. (10745048)
2000
25
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. (10700182)
2000
26
Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity. (10327250)
1999
27
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. (9600744)
1998
28
A cross-over medication trial for patients with autosomal-dominant hypertension with brachydactyly. (9453014)
1998
29
Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12. (8673114)
1996
30
Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation. (8818451)
1996
31
Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13. (8933344)
1996
32
Evaluation of candidate genes for familial brachydactyly. (8592325)
1995
33
Pitfalls of genetic counselling in brachydactyly type C. (7856649)
1994
34
Brachydactyly, mesomelia, mental retardation, aortic dilatation, mitral valve prolapse, and characteristic face. (8484398)
1993
35
Brachydactyly type C associated with shortening of the hallux. (1583664)
1992
36
Atypical brachydactyly. (2715735)
1989
37
Brachydactyly among prehistoric native Americans. (12862093)
1987
38
New syndrome: exostoses, anetodermia, brachydactyly. (6334993)
1984
39
Brachydactyly with major involvement of proximal phalanges. (7083610)
1982
40
Syndrome of ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and carcinoma of the thyroid. (7250456)
1981
41
The "long-thumb" brachydactyly syndrome. (7246605)
1981
42
Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia. (104811)
1979
43
Type C brachydactyly with limited flexion of distal interphalangeal joints. (4470000)
1974
44
Hereditary brachydactyly associated with hypertension. (4774535)
1973
45
Mackinder's hereditary brachydactyly: phenotypic, radiological, dermatoglyphic and genetic observations in an Ontario family. (4748760)
1973
46
Brachydactyly type A 2 in an American Negro family. (5013866)
1972
47
Brachydactyly, facial abnormalities, and mental retardation. Rubinstein-Taybi syndrome. (5900294)
1966
48
Inherited brachydactyly and hypoplasia of the bones of the extremities. (13953230)
1963
49
Brachydactyly and symbrachydactyly. (13488183)
1957
50
Familial brachydactyly with associated bilateral coxitis. (21018438)
1946

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
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