MCID: BRC006
MIFTS: 49

Brachydactyly malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Brachydactyly

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Brachydactyly, Aliases & Descriptions:

Name: Brachydactyly 9 41 11 43 60


Classifications:



External Ids:

Disease Ontology9 DOID:0050581

Summaries for Brachydactyly

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NIH Rare Diseases:41 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 based summary: Brachydactyly is related to brachydactyly, type b1 and symphalangism, proximal, and has symptoms including brachydactyly syndrome, short toe and abnormality of the metacarpal bones. 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 Development Hedgehog and PTH signaling pathways in bone and cartilage development. The compounds cyclopamine and azathioprine have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and thyroid, and related mouse phenotypes are respiratory system and cardiovascular system.

Disease Ontology:9 A bone development disease characterized by short fingers and toes.

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

Related Diseases for Brachydactyly

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Diseases in the Brachydactyly family:

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

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

(show top 50)    (show all 473)
idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly, type b130.7ROR2, NOG
2symphalangism, proximal30.1NOG, ROR2
3polydactyly29.8IHH, HOXD13
4osteoporosis29.7PTHLH, NOG
5syndactyly29.7GDF5, HOXD13, NOG, ROR2
6brachydactyly, type a110.5
7brachydactyly, type c10.5
8brachydactyly, type e10.5
9mental retardation10.5
10brachydactyly, type a210.5
11cryptomicrotia brachydactyly syndrome10.4
12temtamy preaxial brachydactyly syndrome10.4
13du pan syndrome10.4
14hirschsprung disease type d brachydactyly10.4
15brachydactyly, type d10.3
16hypertension with brachydactyly10.3
17brachydactyly, type b210.3
18brachydactyly type a410.3
19coloboma of macula with type b brachydactyly10.3
20spondyloepiphyseal dysplasia-brachydactyly and distinctive speech10.3
21brachydactyly-mental retardation syndrome10.3
22brachydactyly long thumb type10.3
23digital arthropathy-brachydactyly, familial10.3
24brachydactyly type a510.3
25brachydactyly types b and e combined10.3
26brachydactyly-syndactyly syndrome10.2
27brachydactyly mononen type10.2
28brachydactyly elbow wrist dysplasia10.2
29exostoses anetodermia brachydactyly type e10.2
30metaphyseal dysplasia maxillary hypoplasia brachydactyly10.2
31sugarman brachydactyly10.2
32robinow syndrome10.2
33brachydactyly type a310.2
34brachydactyly type a710.2
35thumb stiff brachydactyly mental retardation10.2
36brachydactyly, type a1, b10.2
37metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly10.2
38brachydactyly, type e210.2
39spondyloperipheral dysplasia10.2
40anonychia-onychodystrophy with brachydactyly type b and ectrodactyly10.2
41brachydactyly type a610.2
42fitzsimmons-guilbert syndrome10.2
43sillence syndrome10.2
44stratton-garcia-young syndrome10.2
45ulnar/fibula ray defect - brachydactyly10.2
46brachydactyly-syndactyly, zhao type10.2
47nicolaides-baraitser syndrome10.1
48pseudoachondroplasia10.1
49brachydactyly, type a1, c10.1
50chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia10.1

Graphical network of the top 20 diseases related to Brachydactyly:



Diseases related to brachydactyly

Symptoms for Brachydactyly

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HPO human phenotypes related to Brachydactyly:

(show all 9)
id Description Frequency HPO Source Accession
1 brachydactyly syndrome hallmark (90%) HP:0001156
2 short toe hallmark (90%) HP:0001831
3 abnormality of the metacarpal bones typical (50%) HP:0001163
4 short stature typical (50%) HP:0004322
5 hand polydactyly occasional (7.5%) HP:0001161
6 toe syndactyly occasional (7.5%) HP:0001770
7 finger syndactyly occasional (7.5%) HP:0006101
8 ulnar deviation of finger occasional (7.5%) HP:0009465
9 symphalangism affecting the phalanges of the hand occasional (7.5%) HP:0009773

Drugs & Therapeutics for Brachydactyly

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Drug clinical trials:

Search ClinicalTrials for Brachydactyly

Search NIH Clinical Center for Brachydactyly

Genetic Tests for Brachydactyly

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Anatomical Context for Brachydactyly

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MalaCards organs/tissues related to Brachydactyly:

31
Bone, Heart, Thyroid, Testes, Myeloid

Animal Models for Brachydactyly or affiliated genes

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Publications for Brachydactyly

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Articles related to Brachydactyly:

(show top 50)    (show all 312)
idTitleAuthorsYear
1
Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. (25801215)
2015
2
Brachydactyly E: isolated or as a feature of a syndrome. (24028571)
2013
3
A misplaced lncRNA causes brachydactyly in humans. (23093776)
2012
4
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson. (22406540)
2012
5
A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family. (21357617)
2011
6
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. (20962035)
2011
7
Brachydactyly type A1 with short humerus and associated skeletal features. (21077205)
2010
8
A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism. (19952732)
2010
9
A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. (20015959)
2010
10
Pregnancy after preimplantation genetic diagnosis for brachydactyly type B. (19146779)
2009
11
A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities. (19938075)
2009
12
Brachydactyly and ectodermal dysplasia--is it a new association? (18825805)
2008
13
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. (18283415)
2008
14
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. (17163524)
2007
15
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. (15841179)
2005
16
Catel-Manzke digitopalatal syndrome or Temtamy preaxial brachydactyly hyperphalangism syndrome? (16155426)
2005
17
Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome? (15930899)
2005
18
Brachydactyly and short stature in a kindred with early-onset parkinsonism. (15368505)
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
A novel mutation in the IHH gene causes brachydactyly type A1: a 95- year-old mystery resolved. (12384778)
2002
21
Peculiar facial appearance and generalized brachydactyly in a patient with congenital onychodysplasia of the index fingers (Iso-Kikuchi syndrome). (11170077)
2001
22
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (11169564)
2001
23
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. (10932186)
2000
24
Brachydactyly type B: case report and further evidence for clinical heterogeneity. (10457848)
1999
25
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. (9600744)
1998
26
Brachydactyly type C gene maps to human chromsome 12q24. (8954778)
1996
27
Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12. (8673114)
1996
28
Can cytomegalovirus cause brachydactyly? A case report and review of the literature. (8392455)
1993
29
Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome? (8305965)
1993
30
New skeletal dysplasia with unique brachydactyly. (1632443)
1992
31
Incidence of brachydactyly and hand exostosis in hereditary multiple exostosis. (1995669)
1991
32
Brachydactyly type A-7 (Smorgasbord): a new entity. (2714013)
1989
33
Familial combination of brachydactyly, type E and atrial septal defect, type II. (2591402)
1989
34
Brachydactyly among prehistoric native Americans. (12862093)
1987
35
Coexistent pseudohypoparathyroidism and D brachydactyly in a family. (3815876)
1986
36
Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome? (4025394)
1985
37
New syndrome: exostoses, anetodermia, brachydactyly. (6334993)
1984
38
Brachydactyly with major involvement of proximal phalanges. (7083610)
1982
39
Bilateral femoral head collapse in an adolescent with brachydactyly (multiple epiphyseal dysplasia tarda type 1c). (7334105)
1981
40
Familial colorectal cancer and hereditary brachydactyly. (6784851)
1981
41
Brachydactyly and polydactyly with dermal ridge dissociation and ridge hypoplasia. (513089)
1979
42
Brachydactyly type B and symphalangism in different members of a Mexican family. (1081366)
1975
43
A new syndrome of brachydactyly of the hands and feet with duplication of the first toes. (4469972)
1974
44
Dermatoglyphics in patients with a syndrome of brachydactyly, short stature and hypertension. (4805188)
1973
45
Hereditary brachydactyly associated with hypertension. (4774535)
1973
46
An unusual case of brachydactyly. Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone epiphyses? (6020652)
1967
47
Brachydactyly and outflow heart tract obstruction. Report of two cases. (6081024)
1967
48
Hereditary brachydactyly. (5961825)
1966
49
Inherited brachydactyly and hypoplasia of the bones of the extremities. (13953230)
1963
50
Familial brachydactyly with associated bilateral coxitis. (21018438)
1946

Variations for Brachydactyly

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Expression for genes affiliated with Brachydactyly

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Search GEO for disease gene expression data for Brachydactyly.

Pathways for genes affiliated with Brachydactyly

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Compounds for genes affiliated with Brachydactyly

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Compounds related to Brachydactyly according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1cyclopamine43 5910.7NOG, IHH
2azathioprine43 2 49 1212.6NOG, PTHLH
3heparan sulfate43 2410.5NOG, PTHLH
4lysine439.0NOG, PTHLH, HDAC4
5threonine439.0PTHLH, GDF5, HDAC4
6tyrosine438.8GDF5, PTHLH, ROR2, NOG
7alanine438.3HDAC4, HOXD13, PTHLH

GO Terms for genes affiliated with Brachydactyly

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Cellular components related to Brachydactyly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.6NOG, CHSY1, PTHLH, GDF5
2extracellular spaceGO:00056158.4NOG, IHH, PTHLH, GDF5

Biological processes related to Brachydactyly according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of chondrocyte differentiationGO:003233210.0GDF5, IHH
2somite developmentGO:00610539.8NOG, IHH
3osteoblast developmentGO:00020769.6PTHLH, HDAC4
4osteoblast differentiationGO:00016499.6IHH, NOG
5negative regulation of canonical Wnt signaling pathwayGO:00900909.6NOG, ROR2
6negative regulation of osteoblast differentiationGO:00456689.5NOG, HDAC4
7cell-cell signalingGO:00072679.5GDF5, PTHLH, IHH
8positive regulation of epithelial cell proliferationGO:00506799.4NOG, IHH
9negative regulation of sequence-specific DNA binding transcription factor activityGO:00434339.4PTHLH, HDAC4
10cartilage developmentGO:00512169.2NOG, IHH
11embryonic digit morphogenesisGO:00427339.2NOG, HOXD13
12negative regulation of cell proliferationGO:00082859.2ROR2, PTHLH, HDAC4
13positive regulation of transcription from RNA polymerase II promoterGO:00459448.3NOG, IHH, HOXD13, HDAC4
14skeletal system developmentGO:00015017.9NOG, IHH, PTHLH, HOXD13, HDAC4

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet