MCID: BRC006
MIFTS: 48

Brachydactyly malady

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

Aliases & Classifications for Brachydactyly

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Aliases & Descriptions for Brachydactyly:

Name: Brachydactyly 10 45 47 12 65


Classifications:



External Ids:

Disease Ontology10 DOID:0050581

Summaries for Brachydactyly

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NIH Rare Diseases:45 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 a1 and brachydactyly, type a2, 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 and . Affiliated tissues include bone, heart and thyroid, and related mouse phenotypes are hearing/vestibular/ear and endocrine/exocrine gland.

Disease Ontology:10 A bone development disease characterized by short fingers and toes.

Wikipedia:68 Brachydactyly (Greek βραχύς = \"short\" plus δάκτυλος = \"finger\"), is a medical term... 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 580)
idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly, type a131.3GDF5, IHH
2brachydactyly, type a231.1BMPR1B, GDF5
3brachydactyly, type b131.1NOG, ROR2
4brachydactyly, type a1, c30.6COL2A1, GDF5
5chondrodysplasia, grebe type30.5BMPR1B, GDF5
6pseudopseudohypoparathyroidism30.1GNAS, NOG, RUNX2
7adams-oliver syndrome30.1GNAS, IHH, PTHLH
8brachydactyly, type c10.6
9brachydactyly, type e10.6
10temtamy preaxial brachydactyly syndrome10.5
11brachydactyly, type d10.4
12hypertension and brachydactyly syndrome10.4
13brachydactyly, type b210.4
14brachydactyly-syndactyly syndrome10.3
15brachydactyly, type e210.3
16du pan syndrome10.3
17hirschsprung disease type d brachydactyly10.3
18digital arthropathy-brachydactyly, familial10.3
19cryptomicrotia brachydactyly syndrome10.3
20metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly10.3
21brachydactyly type a410.3
22brachydactyly type a510.3
23micromelic dwarfism, fryns type10.3BMPR1B, GDF5
24brachydactyly long thumb type10.3
25brachydactyly types b and e combined10.3
26coloboma of macula with type b brachydactyly10.3
27symphalangism, proximal, 1b10.2BMPR1B, GDF5
28chromosome 2q37 deletion syndrome10.2
29multiple synostoses syndrome 110.2
30brachydactyly mononen type10.2
31brachydactyly type a310.2
32exostoses anetodermia brachydactyly type e10.2
33spondyloepiphyseal dysplasia-brachydactyly and distinctive speech10.2
34sugarman brachydactyly10.2
35spondyloperipheral dysplasia10.2
36chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia10.2
37syndactyly10.2
38brachydactyly elbow wrist dysplasia10.2
39thumb stiff brachydactyly mental retardation10.2
40stapes ankylosis with broad thumb and toes10.2NOG, ROR2
41immunodeficiency 28, mycobacteriosis10.2GDF5, NOG
42tracheoesophageal fistula symphalangism10.2HOXD13, NOG
43brachydactyly, type a1, b10.2
44liebenberg syndrome10.2
45pseudoachondroplasia10.2
46robinow syndrome10.2
47anonychia-onychodystrophy with brachydactyly type b and ectrodactyly10.2
48brachydactyly type a610.2
49brachydactyly type a710.2
50muenke syndrome10.1

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Skeletal Disorders and Short StatureCompletedNCT00001754

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:

33
Bone, Heart, Thyroid, Myeloid, Testes

Animal Models for Brachydactyly or affiliated genes

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MGI Mouse Phenotypes related to Brachydactyly:

38 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7COL2A1, GNAS, NOG, ROR2, TRPV4
2MP:00053798.0BMPR1B, GNAS, HOXD13, IHH, NOG, PTHLH
3MP:00053697.9GNAS, HDAC4, HOXD13, IHH, NOG, RUNX2
4MP:00053817.9COL2A1, HOXD13, IHH, NOG, PTHLH, ROR2
5MP:00053917.7BMPR1B, CHSY1, COL2A1, HOXD13, IHH, NOG
6MP:00053677.7COL2A1, GNAS, HOXD13, NOG, PTHLH, TRPS1
7MP:00053897.6BMPR1B, GDF5, HOXD13, NOG, PDE3A, PTHLH
8MP:00053857.5COL2A1, GNAS, IHH, NOG, PTHLH, ROR2
9MP:00053717.4BMPR1B, CHSY1, COL2A1, GDF5, GNAS, HOXD13
10MP:00107717.0GNAS, HDAC4, HOXD13, NOG, PTHLH, RUNX2
11MP:00053826.9BMPR1B, CHSY1, COL2A1, GNAS, HDAC4, IHH
12MP:00053886.8COL2A1, GNAS, IHH, NOG, PTHLH, ROR2
13MP:00107686.5BMPR1B, COL2A1, GDF5, GNAS, HDAC4, HOXD13
14MP:00053906.5BMPR1B, CHSY1, COL2A1, GDF5, GNAS, HDAC4
15MP:00053786.5BMPR1B, COL2A1, GDF5, GNAS, HDAC4, HOXD13
16MP:00036316.2BMPR1B, COL2A1, GNAS, HDAC4, HOXD13, IHH

Publications for Brachydactyly

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Articles related to Brachydactyly:

(show top 50)    (show all 317)
idTitleAuthorsYear
1
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? (25994865)
2015
2
Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. (25801215)
2015
3
PDE3A mutations cause autosomal dominant hypertension with brachydactyly. (25961942)
2015
4
Brachydactyly E: isolated or as a feature of a syndrome. (24028571)
2013
5
A misplaced lncRNA causes brachydactyly in humans. (23093776)
2012
6
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson. (22406540)
2012
7
A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family. (21357617)
2011
8
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. (20962035)
2011
9
Brachydactyly type A1 with short humerus and associated skeletal features. (21077205)
2010
10
A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism. (19952732)
2010
11
A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. (20015959)
2010
12
Pregnancy after preimplantation genetic diagnosis for brachydactyly type B. (19146779)
2009
13
A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities. (19938075)
2009
14
Brachydactyly and ectodermal dysplasia--is it a new association? (18825805)
2008
15
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. (18283415)
2008
16
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. (17163524)
2007
17
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. (15841179)
2005
18
Catel-Manzke digitopalatal syndrome or Temtamy preaxial brachydactyly hyperphalangism syndrome? (16155426)
2005
19
Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome? (15930899)
2005
20
Brachydactyly and short stature in a kindred with early-onset parkinsonism. (15368505)
2004
21
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
22
A novel mutation in the IHH gene causes brachydactyly type A1: a 95- year-old mystery resolved. (12384778)
2002
23
Peculiar facial appearance and generalized brachydactyly in a patient with congenital onychodysplasia of the index fingers (Iso-Kikuchi syndrome). (11170077)
2001
24
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (11169564)
2001
25
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. (10932186)
2000
26
Brachydactyly type B: case report and further evidence for clinical heterogeneity. (10457848)
1999
27
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. (9600744)
1998
28
Brachydactyly type C gene maps to human chromsome 12q24. (8954778)
1996
29
Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12. (8673114)
1996
30
Can cytomegalovirus cause brachydactyly? A case report and review of the literature. (8392455)
1993
31
Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome? (8305965)
1993
32
New skeletal dysplasia with unique brachydactyly. (1632443)
1992
33
Incidence of brachydactyly and hand exostosis in hereditary multiple exostosis. (1995669)
1991
34
Brachydactyly type A-7 (Smorgasbord): a new entity. (2714013)
1989
35
Familial combination of brachydactyly, type E and atrial septal defect, type II. (2591402)
1989
36
Coexistent pseudohypoparathyroidism and D brachydactyly in a family. (3815876)
1986
37
Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome? (4025394)
1985
38
New syndrome: exostoses, anetodermia, brachydactyly. (6334993)
1984
39
Brachydactyly with major involvement of proximal phalanges. (7083610)
1982
40
Bilateral femoral head collapse in an adolescent with brachydactyly (multiple epiphyseal dysplasia tarda type 1c). (7334105)
1981
41
Familial colorectal cancer and hereditary brachydactyly. (6784851)
1981
42
Brachydactyly and polydactyly with dermal ridge dissociation and ridge hypoplasia. (513089)
1979
43
Brachydactyly type B and symphalangism in different members of a Mexican family. (1081366)
1975
44
A new syndrome of brachydactyly of the hands and feet with duplication of the first toes. (4469972)
1974
45
Dermatoglyphics in patients with a syndrome of brachydactyly, short stature and hypertension. (4805188)
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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Pathways related to Brachydactyly according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
TGF-beta signaling pathway (KEGG)
Show member pathways
9.6
2
TGF-beta Signaling Pathway (sino)
Show member pathways
9.6
39.5GNAS, PDE3A, PTHLH
4
Show member pathways
9.3BMPR1B, NOG, RUNX2
59.1GNAS, IHH, PTHLH, RUNX2
68.6COL2A1, HDAC4, IHH, PTHLH, RUNX2

GO Terms for genes affiliated with Brachydactyly

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of smoothened signaling pathwayGO:004588010.5CHSY1, IHH
2negative regulation of chondrocyte differentiationGO:003233110.5GDF5, PTHLH
3somite developmentGO:006105310.4IHH, NOG
4regulation of chondrocyte differentiationGO:003233010.2PTHLH, TRPS1
5positive regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204310.1BMPR1B, TRPS1
6positive regulation of chondrocyte differentiationGO:003233210.1GDF5, IHH, RUNX2
7pattern specification processGO:000738910.1HOXD13, IHH, NOG
8anatomical structure formation involved in morphogenesisGO:004864610.0NOG, TRPS1
9osteoblast developmentGO:000207610.0HDAC4, PTHLH, RUNX2
10tissue homeostasisGO:00018949.9COL2A1, GNAS
11proteoglycan metabolic processGO:00060299.9COL2A1, IHH
12transmembrane receptor protein serine/threonine kinase signaling pathwayGO:00071789.8BMPR1B, GDF5, TRPS1
13embryonic digit morphogenesisGO:00427339.8HOXD13, IHH, NOG, ROR2
14chondrocyte developmentGO:00020639.8BMPR1B, CHSY1, RUNX2
15positive regulation of vascular permeabilityGO:00431179.7PDE3A, TRPV4
16cartilage condensationGO:00015029.7BMPR1B, COL2A1, ROR2
17positive regulation of osteoblast differentiationGO:00456699.7BMPR1B, GNAS, RUNX2
18osteoblast differentiationGO:00016499.7IHH, NOG, RUNX2
19embryonic skeletal joint morphogenesisGO:00602729.6COL2A1, NOG
20limb morphogenesisGO:00351089.6BMPR1B, COL2A1, HOXD13
21ossificationGO:00015039.5COL2A1, IHH, RUNX2
22endochondral ossificationGO:00019589.1COL2A1, GNAS, PTHLH, RUNX2
23BMP signaling pathwayGO:00305099.1BMPR1B, GDF5, NOG, ROR2, RUNX2
24cartilage developmentGO:00512168.9CHSY1, COL2A1, GNAS, IHH, NOG
25cellular response to BMP stimulusGO:00717738.7BMPR1B, COL2A1, NOG, RUNX2
26chondrocyte differentiationGO:00020628.5BMPR1B, COL2A1, GDF5, RUNX2, TRPS1
27positive regulation of transcription from RNA polymerase II promoterGO:00459447.8BMPR1B, HDAC4, HOXD13, IHH, NOG, RUNX2
28skeletal system developmentGO:00015016.2BMPR1B, COL2A1, GNAS, HDAC4, HOXD13, IHH

Molecular functions related to Brachydactyly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:00036828.4HDAC4, HOXD13, RUNX2, TRPS1
2metal ion bindingGO:00468727.3BMPR1B, CHSY1, COL2A1, FGD1, GNAS, PDE3A

Sources for Brachydactyly

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet