MCID: BRC006
MIFTS: 52

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 11 47 26 49 13 67

Classifications:



External Ids:

Disease Ontology11 DOID:0050581

Summaries for Brachydactyly

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Wikipedia:70 Brachydactyly (Greek βραχύς = \"short\" plus δάκτυλος = \"finger\"), is a medical term... more...

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 Cardiomyocyte Differentiation through BMP Receptors and G alpha (s) signalling events. Affiliated tissues include bone, heart and thyroid, and related mouse phenotypes are embryo and endocrine/exocrine gland.

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

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 A3
Brachydactyly Type A5 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 253)
idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly, type a133.9BMPR1B, GDF5, IHH
2brachydactyly, type b233.6NOG, ROR2
3robinow syndrome, autosomal recessive31.6NOG, ROR2
4acromesomelic dysplasia, demirhan type31.2BMP2, BMPR1B, GDF5
5brachydactyly, type a212.2
6hypertension and brachydactyly syndrome12.2
7brachydactyly, type c12.2
8brachydactyly, type e12.2
9temtamy preaxial brachydactyly syndrome12.2
10brachydactyly, type b112.1
11brachydactyly-syndactyly syndrome12.1
12brachydactyly, type d12.1
13brachydactyly, type e212.0
14brachydactyly, type a1, c12.0
15metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly12.0
16chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia12.0
17digital arthropathy-brachydactyly, familial11.9
18brachydactyly a1, d11.9
19brachydactyly type a311.8
20digital arthropathy-brachydactyly11.8
21brachydactyly, combined b and e types11.7
22uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly11.7
23ulnar/fibular ray defect and brachydactyly11.7
24cryptomicrotia-brachydactyly syndrome11.7
25hirschsprung disease with type d brachydactyly11.7
26long-thumb brachydactyly syndrome11.7
27brachydactyly, type a411.7
28brachydactyly anonychia11.7
29brachydactyly type a511.7
30spondyloepiphyseal dysplasia-brachydactyly and distinctive speech11.7
31brachydactyly, preaxial, with hallux varus and thumb abduction11.7
32coloboma of macula with type b brachydactyly11.7
33brachydactyly, mononen type11.7
34brachydactyly elbow wrist dysplasia11.7
35brachydactyly type a711.7
36du pan syndrome11.6
37exostoses with anetodermia and brachydactyly, type e11.6
38brachydactyly-nystagmus-cerebellar ataxia11.6
39brachydactyly-mesomelia-intellectual disability-heart defects syndrome11.6
40sugarman brachydactyly11.6
41liebenberg syndrome11.6
42brachydactyly, type a1, b11.6
43thumbs, stiff, with brachydactyly type a1 and developmental delay11.6
44brachydactyly-distal symphalangism syndrome11.6
45robin sequence with distinctive facial appearance and brachydactyly11.6
46anonychia-onychodystrophy with brachydactyly type b and ectrodactyly11.6
47metaphyseal dysplasia maxillary hypoplasia brachydactyly11.6
48thumb stiff brachydactyly mental retardation11.6
49brachydactyly-ectrodactyly with fibular aplasia or hypoplasia11.5
50brachydactyly absence of distal phalanges11.5

Graphical network of the top 20 diseases related to Brachydactyly:



Diseases related to brachydactyly

Symptoms for Brachydactyly

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Human phenotypes related to Brachydactyly:

 63 (show all 9)
id Description HPO Frequency HPO Source Accession
1 brachydactyly syndrome63 hallmark (90%) HP:0001156
2 short toe63 hallmark (90%) HP:0001831
3 abnormality of the metacarpal bones63 typical (50%) HP:0001163
4 short stature63 typical (50%) HP:0004322
5 hand polydactyly63 occasional (7.5%) HP:0001161
6 toe syndactyly63 occasional (7.5%) HP:0001770
7 finger syndactyly63 occasional (7.5%) HP:0006101
8 ulnar deviation of finger63 occasional (7.5%) HP:0009465
9 symphalangism affecting the phalanges of the hand63 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 Brachydactyly Syndrome26
2 Brachydactyly26

Anatomical Context for Brachydactyly

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MalaCards organs/tissues related to Brachydactyly:

35
Bone, Heart, Thyroid, Myeloid, Testes

Animal Models for Brachydactyly or affiliated genes

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MGI Mouse Phenotypes related to Brachydactyly:

40 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.0BMP2, BMPR1B, COL2A1, HOXD13, IHH, NOG
2MP:00053799.0BMPR1B, GNAS, HOXD13, IHH, NOG, PTHLH
3MP:00053778.7BMP2, COL2A1, GNAS, NOG, ROR2, TRPV4
4MP:00053698.6GNAS, HDAC4, HOXD13, IHH, NOG, RUNX2
5MP:00053678.4COL2A1, GNAS, HOXD13, NOG, PTHLH, TRPS1
6MP:00053898.3BMP2, BMPR1B, GDF5, HOXD13, NOG, PDE3A
7MP:00053818.1BMP2, COL2A1, HOXD13, IHH, NOG, PTHLH
8MP:00107718.1GNAS, HDAC4, HOXD13, NOG, PTHLH, RUNX2
9MP:00053857.8BMP2, COL2A1, GNAS, IHH, NOG, PTHLH
10MP:00053887.7COL2A1, GNAS, IHH, NOG, PTHLH, ROR2
11MP:00053717.6BMP2, BMPR1B, CHSY1, COL2A1, GDF5, GNAS
12MP:00053827.2BMP2, BMPR1B, CHSY1, COL2A1, GNAS, HDAC4
13MP:00036317.1BMP2, BMPR1B, COL2A1, GNAS, HDAC4, IHH
14MP:00053787.0BMP2, BMPR1B, COL2A1, GDF5, GNAS, HDAC4
15MP:00107687.0BMP2, BMPR1B, COL2A1, GDF5, GNAS, HDAC4
16MP:00053916.9BMPR1B, CHSY1, COL2A1, HOXD13, IHH, NOG
17MP:00053906.6BMP2, BMPR1B, CHSY1, COL2A1, GDF5, GNAS

Publications for Brachydactyly

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Articles related to Brachydactyly:

(show top 50)    (show all 333)
idTitleAuthorsYear
1
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. (27718516)
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
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1. (25932455)
2015
6
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. (25758993)
2015
7
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C. (25820810)
2015
8
Concomitance of types D and E brachydactyly: a case report. (26698251)
2015
9
Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). (24710560)
2014
10
Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. (24715855)
2014
11
Brachydactyly and atrial septal defect: when the digits point to the heart. (25456580)
2014
12
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson. (22406540)
2012
13
Deletion and point mutations of PTHLH cause brachydactyly type E. (20170896)
2010
14
Retraction: Clinical features study of a brachydactyly type A1 family and the disease-causing gene location. (19806586)
2009
15
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. (17163524)
2007
16
Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal. (18494372)
2007
17
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. (17236141)
2007
18
Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region. (16762827)
2006
19
X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia. (16001442)
2005
20
Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome? (15658617)
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
Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. (12959913)
2003
23
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. (14523231)
2003
24
A novel mutation in the IHH gene causes brachydactyly type A1: a 95- year-old mystery resolved. (12384778)
2002
25
Glypican 1 gene: good candidate for brachydactyly type E. (11920836)
2002
26
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (11169564)
2001
27
Intrafamilial clinical variability in type C brachydactyly. (11837604)
2001
28
Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome? (10323731)
1999
29
Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity. (10327250)
1999
30
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
31
Brachydactyly type C gene maps to human chromsome 12q24. (8954778)
1996
32
Characteristic facies in type B brachydactyly? (7981857)
1994
33
Can cytomegalovirus cause brachydactyly? A case report and review of the literature. (8392455)
1993
34
Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome? (8305965)
1993
35
New skeletal dysplasia with unique brachydactyly. (1632443)
1992
36
Brachydactyly type A-7 (Smorgasbord): a new entity. (2714013)
1989
37
Familial combination of brachydactyly, type E and atrial septal defect, type II. (2591402)
1989
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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Biological processes related to Brachydactyly according to GeneCards Suite gene sharing:

(show all 33)
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
5tissue homeostasisGO:000189410.3COL2A1, GNAS
6embryonic skeletal joint morphogenesisGO:006027210.2COL2A1, NOG
7mesenchymal cell differentiationGO:004876210.2BMP2, NOG
8positive regulation of cartilage developmentGO:006103610.2BMP2, BMPR1B
9embryonic digit morphogenesisGO:004273310.1HOXD13, NOG, ROR2
10SMAD protein signal transductionGO:006039510.1BMP2, GDF5, ROR2
11proteoglycan metabolic processGO:000602910.1BMP2, COL2A1
12cartilage condensationGO:000150210.1BMPR1B, COL2A1, ROR2
13limb morphogenesisGO:003510810.1BMPR1B, COL2A1, HOXD13
14chondrocyte developmentGO:000206310.0BMPR1B, CHSY1, RUNX2
15osteoblast developmentGO:000207610.0HDAC4, PTHLH, RUNX2
16anatomical structure formation involved in morphogenesisGO:00486469.9NOG, TRPS1
17positive regulation of chondrocyte differentiationGO:00323329.9BMPR1B, GDF5, IHH, RUNX2
18positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusGO:19015229.9BMP2, RUNX2
19cell fate commitmentGO:00451659.8BMP2, ROR2, TRPS1
20regulation of odontogenesis of dentin-containing toothGO:00424879.8BMP2, RUNX2
21positive regulation of vascular permeabilityGO:00431179.8PDE3A, TRPV4
22endochondral ossificationGO:00019589.7COL2A1, GNAS, RUNX2
23cartilage developmentGO:00512169.6CHSY1, COL2A1, GNAS, NOG
24cell-cell signalingGO:00072679.6BMP2, GDF5, IHH, PTHLH
25positive regulation of osteoblast differentiationGO:00456699.4BMP2, BMPR1B, GNAS, RUNX2
26osteoblast differentiationGO:00016499.4BMP2, NOG, RUNX2
27animal organ morphogenesisGO:00098879.3BMP2, FGD1, TRPS1
28chondrocyte differentiationGO:00020629.1BMP2, BMPR1B, COL2A1, GDF5, RUNX2
29BMP signaling pathwayGO:00305099.0BMP2, BMPR1B, NOG, ROR2, RUNX2
30cellular response to BMP stimulusGO:00717738.8BMP2, BMPR1B, COL2A1, NOG, RUNX2
31negative regulation of transcription from RNA polymerase II promoterGO:00001227.6BMP2, HDAC4, NOG, TRPS1, TRPV4
32positive regulation of transcription from RNA polymerase II promoterGO:00459447.5BMP2, BMPR1B, HDAC4, HOXD13, IHH, NOG
33skeletal system developmentGO:00015017.1BMP2, BMPR1B, COL2A1, HDAC4, HOXD13, IHH

Sources for Brachydactyly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet