MCID: BRC006
MIFTS: 53

Brachydactyly malady

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

Aliases & Classifications for Brachydactyly

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Aliases & Descriptions for Brachydactyly:

Name: Brachydactyly 11 46 13 25 48 66

Classifications:



External Ids:

Disease Ontology11 DOID:0050581

Summaries for Brachydactyly

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NIH Rare Diseases:46 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 b2, 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 G alpha (s) signalling events and Cardiomyocyte Differentiation through BMP Receptors. Affiliated tissues include bone, heart and thyroid, and related mouse phenotypes are integument and renal/urinary system.

Disease Ontology:11 A bone development disease characterized by short fingers and toes.

Wikipedia:69 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 A4 Brachydactyly Type A5
Brachydactyly Type A3 Brachydactyly Type A7
Hoxd13-Related Brachydactyly Brachydactyly of Toes
Brachydactyly A1, D

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

(show top 50)    (show all 266)
idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly, type a134.0BMPR1B, GDF5, IHH
2brachydactyly, type b233.8NOG, ROR2
3robinow syndrome, autosomal recessive30.4NOG, ROR2
4acromesomelic dysplasia, demirhan type29.9BMP2, BMPR1B, GDF5
5hypertension and brachydactyly syndrome12.2
6brachydactyly, type c12.2
7brachydactyly, type a212.2
8temtamy preaxial brachydactyly syndrome12.2
9brachydactyly, type e12.1
10brachydactyly, type b112.1
11brachydactyly-syndactyly syndrome12.1
12brachydactyly, type d12.1
13chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia12.0
14brachydactyly, type a1, c12.0
15brachydactyly, type e211.9
16metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly11.9
17digital arthropathy-brachydactyly, familial11.9
18brachydactyly a1, d11.9
19brachydactyly type a311.9
20digital arthropathy-brachydactyly11.9
21brachydactyly, combined b and e types11.9
22uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly11.8
23ulnar/fibular ray defect and brachydactyly11.8
24cryptomicrotia-brachydactyly syndrome11.8
25hirschsprung disease with type d brachydactyly11.8
26long-thumb brachydactyly syndrome11.8
27brachydactyly, type a411.8
28brachydactyly anonychia11.8
29brachydactyly type a511.8
30spondyloepiphyseal dysplasia-brachydactyly and distinctive speech11.8
31brachydactyly, preaxial, with hallux varus and thumb abduction11.8
32coloboma of macula with type b brachydactyly11.8
33brachydactyly, mononen type11.8
34brachydactyly type a711.8
35exostoses with anetodermia and brachydactyly, type e11.7
36brachydactyly-nystagmus-cerebellar ataxia11.7
37brachydactyly-mesomelia-intellectual disability-heart defects syndrome11.7
38sugarman brachydactyly11.7
39brachydactyly, type a1, b11.7
40thumbs, stiff, with brachydactyly type a1 and developmental delay11.7
41brachydactyly-distal symphalangism syndrome11.7
42robin sequence with distinctive facial appearance and brachydactyly11.7
43anonychia-onychodystrophy with brachydactyly type b and ectrodactyly11.7
44metaphyseal dysplasia maxillary hypoplasia brachydactyly11.7
45thumb stiff brachydactyly mental retardation11.7
46brachydactyly-ectrodactyly with fibular aplasia or hypoplasia11.7
47brachydactyly absence of distal phalanges11.7
48brachydactyly elbow wrist dysplasia11.7
49brachydactyly small stature face anomalies11.7
50brachydactyly tibial hypoplasia11.7

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
2Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Brachydactyly

Genetic Tests for Brachydactyly

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Genetic tests related to Brachydactyly:

id Genetic test Affiliating Genes
1 Brachydactyly25
2 Brachydactyly Syndrome25

Anatomical Context for Brachydactyly

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MalaCards organs/tissues related to Brachydactyly:

34
Bone, Heart, Thyroid, Myeloid, Testes

Animal Models for Brachydactyly or affiliated genes

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MGI Mouse Phenotypes related to Brachydactyly:

39 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.2GNAS, HDAC4, HOXD13, NOG, PTHLH, RUNX2
2MP:00053678.1COL2A1, GNAS, HOXD13, NOG, PTHLH, TRPV4
3MP:00053698.1GNAS, HDAC4, HOXD13, IHH, NOG, RUNX2
4MP:00053808.1BMP2, BMPR1B, COL2A1, HOXD13, IHH, NOG
5MP:00053778.0BMP2, COL2A1, GNAS, NOG, ROR2, TRPV4
6MP:00053798.0BMPR1B, GNAS, HOXD13, IHH, NOG, PTHLH
7MP:00053887.7COL2A1, GNAS, IHH, NOG, PTHLH, ROR2
8MP:00053817.5BMP2, COL2A1, HOXD13, IHH, NOG, PTHLH
9MP:00053897.5BMP2, BMPR1B, GDF5, HOXD13, NOG, PDE3A
10MP:00053917.0BMPR1B, CHSY1, COL2A1, HOXD13, IHH, NOG
11MP:00053826.7BMP2, BMPR1B, CHSY1, COL2A1, GNAS, HDAC4
12MP:00053856.7BMP2, COL2A1, GNAS, IHH, NOG, PTHLH
13MP:00107686.2BMP2, BMPR1B, COL2A1, GDF5, GNAS, HDAC4
14MP:00036316.1BMP2, BMPR1B, COL2A1, GNAS, HDAC4, IHH
15MP:00053785.9BMP2, BMPR1B, COL2A1, GDF5, GNAS, HDAC4
16MP:00053715.8BMP2, BMPR1B, CHSY1, COL2A1, GDF5, GNAS
17MP:00053905.8BMP2, BMPR1B, CHSY1, COL2A1, GDF5, GNAS

Publications for Brachydactyly

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Articles related to Brachydactyly:

(show top 50)    (show all 331)
idTitleAuthorsYear
1
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. (26640227)
2016
2
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? (25994865)
2015
3
Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. (25801215)
2015
4
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1. (25932455)
2015
5
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. (25758993)
2015
6
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C. (25820810)
2015
7
Concomitance of types D and E brachydactyly: a case report. (26698251)
2015
8
Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). (24710560)
2014
9
Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. (24715855)
2014
10
Brachydactyly and atrial septal defect: when the digits point to the heart. (25456580)
2014
11
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson. (22406540)
2012
12
Deletion and point mutations of PTHLH cause brachydactyly type E. (20170896)
2010
13
Retraction: Clinical features study of a brachydactyly type A1 family and the disease-causing gene location. (19806586)
2009
14
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. (17163524)
2007
15
Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal. (18494372)
2007
16
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. (17236141)
2007
17
Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region. (16762827)
2006
18
X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia. (16001442)
2005
19
Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome? (15658617)
2004
20
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
21
Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. (12959913)
2003
22
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. (14523231)
2003
23
A novel mutation in the IHH gene causes brachydactyly type A1: a 95- year-old mystery resolved. (12384778)
2002
24
Glypican 1 gene: good candidate for brachydactyly type E. (11920836)
2002
25
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (11169564)
2001
26
Intrafamilial clinical variability in type C brachydactyly. (11837604)
2001
27
Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome? (10323731)
1999
28
Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity. (10327250)
1999
29
A new multiple malformation syndrome of MA1llerian dysgenesis and conductive hearing loss with facial hypoplasia, bilateral forearm deformity, brachydactyly, spinal stenosis and scoliosis. (9272710)
1997
30
Brachydactyly type C gene maps to human chromsome 12q24. (8954778)
1996
31
Characteristic facies in type B brachydactyly? (7981857)
1994
32
Can cytomegalovirus cause brachydactyly? A case report and review of the literature. (8392455)
1993
33
Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome? (8305965)
1993
34
New skeletal dysplasia with unique brachydactyly. (1632443)
1992
35
Brachydactyly type A-7 (Smorgasbord): a new entity. (2714013)
1989
36
Familial combination of brachydactyly, type E and atrial septal defect, type II. (2591402)
1989
37
Brachydactyly, a possible inherited anomaly at prehistoric Prince Rupert Harbour. (3046372)
1988
38
Linkage between the genes for Wolfram syndrome and brachydactyly E. (3993691)
1985
39
Inheritance of brachydactyly type D. (6747264)
1984
40
Familial colorectal cancer and hereditary brachydactyly. (6784851)
1981
41
Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister. (7252997)
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
Dermatoglyphics in patients with a syndrome of brachydactyly, short stature and hypertension. (4805188)
1973
45
Brachydactyly and pseudo-pseudohypoparathyroidism. (5703222)
1968
46
Brachydactyly and outflow heart tract obstruction. Report of two cases. (6081024)
1967
47
Hereditary brachydactyly. (5961825)
1966
48
Craniofacial dysplasia associated with congenital cataract, impairment of hearing and brachydactyly. (5929136)
1966
49
BRACHYDACTYLY--FAMILIAL OCCURRENCE IN ONE FAMILY. (14217333)
1964
50
Spherophakia with brachydactyly; comparison with Marfan's syndrome. (13104565)
1953

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.1BMP2, COL2A1, GDF5, IHH, NOG, PTHLH

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

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein serine/threonine kinase signaling pathwayGO:000717810.6BMPR1B, GDF5
2somite developmentGO:006105310.5IHH, NOG
3negative regulation of chondrocyte differentiationGO:003233110.5GDF5, PTHLH
4positive regulation of smoothened signaling pathwayGO:004588010.5CHSY1, IHH
5embryonic skeletal joint morphogenesisGO:006027210.2COL2A1, NOG
6tissue homeostasisGO:000189410.1COL2A1, GNAS
7embryonic digit morphogenesisGO:004273310.0HOXD13, NOG, ROR2
8growthGO:004000710.0BMP2, GDF5
9limb morphogenesisGO:003510810.0BMPR1B, COL2A1, HOXD13
10positive regulation of vascular permeabilityGO:004311710.0PDE3A, TRPV4
11osteoblast developmentGO:000207610.0HDAC4, PTHLH, RUNX2
12cartilage condensationGO:000150210.0BMPR1B, COL2A1, ROR2
13chondrocyte developmentGO:000206310.0BMPR1B, CHSY1, RUNX2
14mesenchymal cell differentiationGO:00487629.9BMP2, NOG
15positive regulation of cartilage developmentGO:00610369.9BMP2, BMPR1B
16positive regulation of chondrocyte differentiationGO:00323329.8BMPR1B, GDF5, IHH, RUNX2
17proteoglycan metabolic processGO:00060299.8BMP2, COL2A1
18SMAD protein signal transductionGO:00603959.7BMP2, GDF5, ROR2
19positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusGO:19015229.4BMP2, RUNX2
20endochondral ossificationGO:00019589.3COL2A1, GNAS, RUNX2
21cartilage developmentGO:00512169.3CHSY1, COL2A1, GNAS, NOG
22cell-cell signalingGO:00072679.3BMP2, GDF5, IHH, PTHLH
23regulation of odontogenesis of dentin-containing toothGO:00424879.1BMP2, RUNX2
24osteoblast differentiationGO:00016499.0BMP2, NOG, RUNX2
25negative regulation of cell proliferationGO:00082858.7BMP2, HDAC4, PTHLH, ROR2
26positive regulation of osteoblast differentiationGO:00456698.7BMP2, BMPR1B, GNAS, RUNX2
27chondrocyte differentiationGO:00020628.6BMP2, BMPR1B, COL2A1, GDF5, RUNX2
28BMP signaling pathwayGO:00305098.5BMP2, BMPR1B, NOG, ROR2, RUNX2
29cellular response to BMP stimulusGO:00717738.3BMP2, BMPR1B, COL2A1, NOG, RUNX2
30positive regulation of transcription from RNA polymerase II promoterGO:00459447.6BMP2, BMPR1B, HDAC4, HOXD13, IHH, NOG
31skeletal system developmentGO:00015017.1BMP2, BMPR1B, COL2A1, HDAC4, HOXD13, IHH

Sources for Brachydactyly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet