MCID: BRC006
MIFTS: 51

Brachydactyly malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Brachydactyly

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Aliases & Descriptions for Brachydactyly:

Name: Brachydactyly 10 45 47 12 24 65

Classifications:



External Ids:

Disease Ontology10 DOID:0050581
UMLS65 C0221357

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 a1, c, 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 TGF-beta signaling pathway (KEGG) and TGF-beta Signaling Pathway (sino). Affiliated tissues include bone, heart and breast, and related mouse phenotypes are endocrine/exocrine gland and hearing/vestibular/ear.

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 270)
idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly, type a133.9BMPR1B, GDF5, IHH
2brachydactyly, type a1, c33.3COL2A1, GDF5
3chondrodysplasia, grebe type30.5BMPR1B, GDF5
4pseudopseudohypoparathyroidism30.4GNAS, NOG, RUNX2
5robinow syndrome, autosomal recessive30.4NOG, ROR2
6acromesomelic dysplasia, demirhan type30.3BMPR1B, GDF5
7brachydactyly, type c12.2
8brachydactyly, type a212.2
9temtamy preaxial brachydactyly syndrome12.2
10brachydactyly, type e12.1
11hypertension and brachydactyly syndrome12.1
12brachydactyly, type b112.1
13brachydactyly, type d12.1
14brachydactyly-syndactyly syndrome12.1
15brachydactyly, type b212.0
16brachydactyly, type e212.0
17chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia12.0
18digital arthropathy-brachydactyly, familial12.0
19metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly11.9
20brachydactyly type a311.9
21digital arthropathy-brachydactyly11.9
22brachydactyly types b and e combined11.8
23brachydactyly anonychia11.8
24brachydactyly long thumb type11.8
25brachydactyly type a411.8
26brachydactyly type a511.8
27cryptomicrotia brachydactyly syndrome11.8
28hirschsprung disease type d brachydactyly11.8
29brachydactyly elbow wrist dysplasia11.8
30brachydactyly type a711.8
31brachydactyly-arterial hypertension syndrome11.8
32brachydactyly mononen type11.7
33brachydactyly type a611.7
34coloboma of macula with type b brachydactyly11.7
35sugarman brachydactyly11.7
36brachydactyly, type a1, b11.7
37anonychia-onychodystrophy with brachydactyly type b and ectrodactyly11.7
38brachydactyly preaxial with hallux varus and thumb abduction11.7
39exostoses anetodermia brachydactyly type e11.7
40metaphyseal dysplasia maxillary hypoplasia brachydactyly11.7
41spondyloepiphyseal dysplasia-brachydactyly and distinctive speech11.7
42thumb stiff brachydactyly mental retardation11.7
43brachydactyly absence of distal phalanges11.7
44brachydactyly dwarfism mental retardation11.7
45brachydactyly mesomelia mental retardation heart defects11.7
46brachydactyly small stature face anomalies11.7
47brachydactyly tibial hypoplasia11.7
48fibula aplasia complex brachydactyly11.7
49growth deficiency brachydactyly unusual facies11.7
50symphalangism brachydactyly craniosynostosis11.7

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, Breast, Brain, T cells, Thyroid, Kidney

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:00053798.4BMPR1B, GNAS, HOXD13, IHH, NOG, PTHLH
2MP:00053778.3COL2A1, GNAS, NOG, ROR2, TRPV4
3MP:00053898.2BMPR1B, GDF5, HOXD13, NOG, PDE3A, PTHLH
4MP:00053698.1GNAS, HDAC4, HOXD13, IHH, NOG, RUNX2
5MP:00053677.7COL2A1, GNAS, HOXD13, NOG, PTHLH, TRPS1
6MP:00053817.6COL2A1, HOXD13, IHH, NOG, PTHLH, ROR2
7MP:00107717.5GNAS, HDAC4, HOXD13, NOG, PTHLH, RUNX2
8MP:00053857.5COL2A1, GNAS, IHH, NOG, PTHLH, ROR2
9MP:00053717.4BMPR1B, CHSY1, COL2A1, GDF5, GNAS, HOXD13
10MP:00053917.3BMPR1B, CHSY1, COL2A1, HOXD13, IHH, NOG
11MP:00036317.2BMPR1B, COL2A1, GNAS, HDAC4, IHH, NOG
12MP:00053887.1COL2A1, GNAS, IHH, NOG, PTHLH, ROR2
13MP:00053826.5BMPR1B, CHSY1, COL2A1, GNAS, HDAC4, IHH
14MP:00107686.2BMPR1B, COL2A1, GDF5, GNAS, HDAC4, HOXD13
15MP:00053786.1BMPR1B, COL2A1, GDF5, GNAS, HDAC4, HOXD13
16MP:00053905.8BMPR1B, CHSY1, COL2A1, GDF5, GNAS, HDAC4

Publications for Brachydactyly

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Articles related to Brachydactyly:

(show top 50)    (show all 330)
idTitleAuthorsYear
1
Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene. (26763883)
2016
2
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. (26640227)
2016
3
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? (25994865)
2015
4
Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. (25801215)
2015
5
PDE3A mutations cause autosomal dominant hypertension with brachydactyly. (25961942)
2015
6
Brachydactyly E: isolated or as a feature of a syndrome. (24028571)
2013
7
A misplaced lncRNA causes brachydactyly in humans. (23093776)
2012
8
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson. (22406540)
2012
9
A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family. (21357617)
2011
10
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. (20962035)
2011
11
Brachydactyly type A1 with short humerus and associated skeletal features. (21077205)
2010
12
A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism. (19952732)
2010
13
Pregnancy after preimplantation genetic diagnosis for brachydactyly type B. (19146779)
2009
14
A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities. (19938075)
2009
15
Brachydactyly and ectodermal dysplasia--is it a new association? (18825805)
2008
16
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. (18283415)
2008
17
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. (17163524)
2007
18
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. (15841179)
2005
19
Catel-Manzke digitopalatal syndrome or Temtamy preaxial brachydactyly hyperphalangism syndrome? (16155426)
2005
20
Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome? (15930899)
2005
21
Brachydactyly and short stature in a kindred with early-onset parkinsonism. (15368505)
2004
22
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
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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GO Terms for genes affiliated with Brachydactyly

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1limb morphogenesisGO:003510810.5BMPR1B, HOXD13
2somite developmentGO:006105310.3IHH, NOG
3osteoblast developmentGO:000207610.3HDAC4, PTHLH
4SMAD protein signal transductionGO:006039510.3GDF5, ROR2
5positive regulation of chondrocyte differentiationGO:003233210.3BMPR1B, GDF5, IHH
6dorsal/ventral pattern formationGO:000995310.2BMPR1B, NOG
7cartilage condensationGO:000150210.0BMPR1B, COL2A1, ROR2
8positive regulation of vascular permeabilityGO:004311710.0PDE3A, TRPV4
9embryonic cranial skeleton morphogenesisGO:004870110.0GNAS, RUNX2
10regulation of chondrocyte differentiationGO:00323309.9PTHLH, TRPS1
11embryonic digit morphogenesisGO:00427339.8HOXD13, IHH, NOG, ROR2
12endochondral ossificationGO:00019589.7COL2A1, GNAS, RUNX2
13chondrocyte differentiationGO:00020629.4BMPR1B, COL2A1, GDF5, RUNX2
14chondrocyte developmentGO:00020639.4BMPR1B, CHSY1, RUNX2
15cartilage developmentGO:00512169.1CHSY1, COL2A1, IHH, NOG
16BMP signaling pathwayGO:00305099.1BMPR1B, GDF5, NOG, ROR2, RUNX2
17cellular response to BMP stimulusGO:00717739.0BMPR1B, COL2A1, NOG, RUNX2
18skeletal system developmentGO:00015018.9BMPR1B, COL2A1, HDAC4, NOG
19positive regulation of transcription from RNA polymerase II promoterGO:00459448.8HDAC4, HOXD13, IHH, NOG, RUNX2

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