MCID: BRC006
MIFTS: 49

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 and . Affiliated tissues include bone, breast and liver, 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 404)
idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly, type a134.1BMPR1B, GDF5, IHH
2brachydactyly, type a1, c33.8COL2A1, GDF5
3chondrodysplasia, grebe type30.8BMPR1B, GDF5
4robinow syndrome, autosomal recessive30.7NOG, ROR2
5acromesomelic dysplasia, demirhan type30.7BMPR1B, GDF5
6pseudopseudohypoparathyroidism30.1GNAS, NOG, RUNX2
7temtamy preaxial brachydactyly syndrome12.4
8brachydactyly, type a212.4
9brachydactyly, type c12.4
10hypertension and brachydactyly syndrome12.4
11brachydactyly, type e12.4
12brachydactyly, type b112.4
13brachydactyly, type d12.4
14brachydactyly, type b212.4
15brachydactyly-syndactyly syndrome12.4
16brachydactyly, type e212.4
17digital arthropathy-brachydactyly, familial12.3
18metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly12.3
19chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia12.2
20brachydactyly types b and e combined12.2
21brachydactyly long thumb type12.2
22brachydactyly type a412.2
23brachydactyly type a512.2
24cryptomicrotia brachydactyly syndrome12.2
25hirschsprung disease type d brachydactyly12.2
26brachydactyly elbow wrist dysplasia12.2
27brachydactyly type a712.2
28brachydactyly-arterial hypertension syndrome12.2
29brachydactyly mononen type12.1
30brachydactyly type a312.1
31brachydactyly type a612.1
32coloboma of macula with type b brachydactyly12.1
33sugarman brachydactyly12.1
34digital arthropathy-brachydactyly12.1
35brachydactyly, type a1, b12.1
36anonychia-onychodystrophy with brachydactyly type b and ectrodactyly12.1
37brachydactyly preaxial with hallux varus and thumb abduction12.1
38exostoses anetodermia brachydactyly type e12.1
39metaphyseal dysplasia maxillary hypoplasia brachydactyly12.1
40spondyloepiphyseal dysplasia-brachydactyly and distinctive speech12.1
41thumb stiff brachydactyly mental retardation12.1
42brachydactyly absence of distal phalanges12.1
43brachydactyly anonychia12.1
44brachydactyly dwarfism mental retardation12.1
45brachydactyly mesomelia mental retardation heart defects12.1
46brachydactyly small stature face anomalies12.1
47brachydactyly tibial hypoplasia12.1
48fibula aplasia complex brachydactyly12.1
49growth deficiency brachydactyly unusual facies12.1
50symphalangism brachydactyly craniosynostosis12.1

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, Breast, Liver, Skin, T cells, Kidney, Brain

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 322)
idTitleAuthorsYear
1
Prevalence and occupational impact of arthritis in Saskatchewan farmers. (25906279)
2015
2
Solitary parotid plexiform neurofibroma - diagnostic difficulty in a clinically unsuspected case. (25494144)
2014
3
Hypertrophy of ligamentum flavum in lumbar spine stenosis is associated with increased miR-155 level. (24963214)
2014
4
Prognostic impact of circulating miR-21 in the plasma of patients with gastric carcinoma. (23267156)
2013
5
Prophylactic post-transplant dasatinib administration in a pediatric patient with Philadelphia chromosome-positive acute lymphoblastic leukemia. (23782380)
2013
6
Preliminary study on human papillomavirus frequency and specific type-distribution in vulva cancer from Thai women. (23725140)
2013
7
The remains of the day in dissociative amnesia. (24962768)
2012
8
The cause of B-type natriuretic peptide elevation and the dose-dependent effect of angiotensin-converting enzyme inhibitor on patients late after tetralogy of Fallot repair. (22271387)
2012
9
Evaluation of hepatitis A surveillance data and outbreak detection in Yunnan Province, China, from 2004 through 2009. (22299466)
2011
10
Protein kinase C? activates NF-?B in response to camptothecin-induced DNA damage. (21820409)
2011
11
Dystrophic calcinosis in a patient with rheumatoid arthritis. (20737189)
2011
12
Acute renal failure in a patient with antiphospholipid syndrome and immune thrombocytopenic purpura treated with eltrombopag. (20652968)
2010
13
Clinical and evolutionary characteristics of four patients with pulmonary histoplasmosis reported in the ParaA-ba Paulista Valley region. (21085880)
2010
14
Inhibition of cyclooxygenase-2 impairs the expression of essential plasma cell transcription factors and human B-lymphocyte differentiation. (20050331)
2010
15
Risk factors for early recurrence of small hepatocellular carcinoma after curative resection. (20133226)
2010
16
Macrophage-inflammatory protein-3alpha/CCL-20 is transcriptionally induced by the iron chelator desferrioxamine in human mononuclear phagocytes through nuclear factor (NF)-kappaB. (19939449)
2010
17
Cyclophosphamide in aplastic anemia? (20299517)
2010
18
Characterization of antibodies directed against the immunoglobulin light kappa chain variable chain region (VK) of hepatitis C virus-related type-II mixed cryoglobulinemia and B-cell proliferations. (19758144)
2009
19
Activated protein C concentrate treatment for skin necrosis under warfarin treatment in severe genetic protein C deficiency combined with prothrombin mutation and factor V Leiden. (19190829)
2009
20
Insulin resistance in pulmonary arterial hypertension. (19047320)
2009
21
Polymorphisms of toll like receptors in the genetics of severe RSV associated diseases. (18776592)
2008
22
Association between alcohol intake and serum sex hormones and peptides differs by tamoxifen use in breast cancer survivors. (18957523)
2008
23
Cinacalcet in the therapy of secondary hyperparathyroidism--own experiences]. (18634360)
2008
24
Stem cell c-KIT and HOXB4 genes: critical roles and mechanisms in self-renewal, proliferation, and differentiation. (17253940)
2006
25
Decreased chest mobility in children with spastic cerebral palsy. (17290570)
2006
26
In vivo prooxidant state in Werner syndrome (WS): results from three WS patients and two WS heterozygotes. (16036329)
2005
27
Recent developments in Miller Fisher syndrome and related disorders. (16155441)
2005
28
Long-term outcome of individuals with pure red cell aplasia and antierythropoietin antibodies in patients treated with recombinant epoetin: a follow-up report from the Research on Adverse Drug Events and Reports (RADAR) Project. (16099877)
2005
29
The influence of pharmacogenetics on the time to achieve target tacrolimus concentrations after kidney transplantation. (15147425)
2004
30
Peritoneal macrophages induce RANTES (regulated on activation, normal T cell expressed and secreted) chemokine gene transcription in endometrial stromal cells. (15001640)
2004
31
A temperature-sensitive allele of Drosophila sesB reveals acute functions for the mitochondrial adenine nucleotide translocase in synaptic transmission and dynamin regulation. (14668379)
2003
32
Silent myocardial infarction in women with impaired glucose tolerance: the Northern Sweden MONICA study. (14498994)
2003
33
Simple, potent, and selective pyrrole inhibitors of monoamine oxidase types A and B. (12620068)
2003
34
Status asthmaticus in children: evidence-based recommendations. (11834695)
2002
35
Orofacial findings in the Klippel-TrAcnaunay syndrome. (11484474)
2001
36
Cerebral siderosis: deafness by a spinal tumor. (10929281)
2000
37
Interleukin 1 and interleukin 1beta converting enzyme (caspase 1) expression in the human colonic epithelial barrier. Caspase 1 downregulation in colon cancer. (10403737)
1999
38
Maintenance intravenous iron therapy in hepmodialysis patients receiving recombinant human erythropoientin. (18212409)
1999
39
Localization of plasminogen activator and inhibitor, LH and androgen receptors and inhibin subunits in monkey epididymis. (9433919)
1997
40
Pregnancy induces an increase in the expression of glyceraldehyde-3-phosphate dehydrogenase in uterine artery endothelial cells. (9408883)
1997
41
Inactivation of p53 is associated with decreased levels of radiation-induced apoptosis in medulloblastoma cell lines. (17180032)
1995
42
Hydrogen peroxide-induced luminescence and evolution of molecular oxygen in human saliva. (7748108)
1995
43
Cultured human mesangial cells produce both type 1 and type 2 plasminogen activator inhibitors. (8772230)
1995
44
The molecular basis of abetalipoproteinemia. (8044420)
1994
45
Relationship among aromatase activity, estrogen receptor and progesterone receptor in ovarian tumors from postmenopausal women]. (8245591)
1993
46
A phase I safety study of doxifluridine and interferon-alpha-2a in patients with advanced neoplastic disease. (8116077)
1993
47
Indications of future decreasing trends in skin-melanoma mortality among whites in the United States. (1917147)
1991
48
Activation requirements of donor T cells and host T cell recruitment in adoptive transfer of murine experimental autoimmune orchitis (EAO). (2573435)
1989
49
Cerebellar hemangioblastoma and subependymoma: a case report of an unprecedented association. (3995811)
1985
50
ANOSOGNOSIA AND APHASIA. (14107687)
1964

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