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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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
A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. (24269551)
2014
2
Brachydactyly type A1 with short humerus and associated skeletal features. (21077205)
2010
3
A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. (20015959)
2010
4
A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities. (19938075)
2009
5
Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment. (19760657)
2009
6
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. (19327734)
2009
7
Brachydactyly. (18554391)
2008
8
Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA. (18086950)
2008
9
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. (16957682)
2006
10
Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome? (15930899)
2005
11
Congenital brachydactyly and nail hypoplasia: clue to bone-dependent nail formation. (15949005)
2005
12
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. (16127465)
2005
13
Brachydactyly and short stature in a kindred with early-onset parkinsonism. (15368505)
2004
14
A case report of brachydactyly types D and E: a new variation of brachydactyly. (15215028)
2004
15
Is brachydactyly type Ballard a variant of brachydactyly type E? (15266625)
2004
16
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. (15070926)
2004
17
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. (14735582)
2004
18
Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. (12959913)
2003
19
Growth hormone deficiency, situs inversus, hypertrichosis and brachydactyly. (12880132)
2003
20
An unusual family with brachydactyly. (12567422)
2003
21
Glypican 1 gene: good candidate for brachydactyly type E. (11920836)
2002
22
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). (12121354)
2002
23
New syndrome of mental retardation, Robin sequence, and brachydactyly. (11337748)
2001
24
Prenatal diagnosis of type A1 brachydactyly. (11422978)
2001
25
Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family. (10970192)
2000
26
Mutations in CDMP1 cause autosomal dominant brachydactyly type C. (9288091)
1997
27
Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families. (9415685)
1997
28
Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome. (8014978)
1994
29
Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome? (8305965)
1993
30
Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance. (1856836)
1991
31
A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs. (2333912)
1990
32
A pedigree of cervical stenosis, brachydactyly, syndactyly, and hyperopia. (2551554)
1989
33
Type C brachydactyly transmitted through four generations. (3281570)
1988
34
Calcifications in congenital brachydactyly. (3611673)
1987
35
Distal phalangeal brachydactyly secondary to healed renal osteodystrophy. (3616669)
1987
36
Calcification simulating infection in congenital brachydactyly. (3944438)
1986
37
Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome? (4025394)
1985
38
Linkage between the genes for Wolfram syndrome and brachydactyly E. (3993691)
1985
39
Familial brachydactyly and chondrocalcinosis. Report of a patient, pedigree and review of the literature. (6644710)
1983
40
Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations. (6823428)
1983
41
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. (7137223)
1982
42
Mohr-Wriedt (A2) brachydactyly: analysis of a large Brazilian kindred. (7390514)
1980
43
Hereditary brachydactyly with nail dysplasia. (641944)
1978
44
Brachydactyly type B and symphalangism in different members of a Mexican family. (1081366)
1975
45
A new syndrome of brachydactyly of the hands and feet with duplication of the first toes. (4469972)
1974
46
Symphalangism and brachydactyly syndrome: report of the WL symphalangism-brachydactyly syndrome: review of literature and classification. (4469994)
1974
47
Dwarfism with brachydactyly, spherophakia and glaucoma. Marchesani syndrome in an Indian girl. (5916590)
1966
48
BRACHYDACTYLY--FAMILIAL OCCURRENCE IN ONE FAMILY. (14217333)
1964
49
BRACHYDACTYLY, PECULIAR FACIES AND MENTAL RETARDATION. (14186654)
1964
50
Abnormal Phalanges in a Human Hand: A Case of Brachydactyly. (17232827)
1909

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