Brachydactyly disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Brachydactyly

Sources:
⁹Disease Ontology, ⁴²NIH Rare Diseases, ⁶⁴Wikipedia, ⁴⁶OMIM, ³²MalaCards
See all sources

NIH Rare Diseases:⁴² 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 short stature and brachydactyly type b, 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 Signaling events mediated by the Hedgehog family and Development Hedgehog and PTH signaling pathways in bone and cartilage development. The compounds cyclopamine and azathioprine have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and thyroid, and related mouse phenotypes are respiratory system and cardiovascular system.

Disease Ontology:⁹ A bone development disease characterized by short fingers and toes.

Wikipedia:⁶⁴ Brachydactyly (Greek ?????? = \"short\" plus ???????? = \"finger\"), is a medical term which literally... more...

Descriptions from OMIM:⁴⁶ 113300, 112500, 112910, 112700, 113100 607004, 613382, 112450, 301940, 113200, 611377, 112440, 615072, 113000, 112800, 112600 more

Aliases & Classifications for Brachydactyly

Sources:
⁹Disease Ontology, ⁴²NIH Rare Diseases, ¹¹DISEASES, ⁴⁴Novoseek, ⁶¹UMLS, ⁴⁶OMIM
See all sources

Brachydactyly, Aliases & Descriptions:

Name: Brachydactyly ⁹ ⁴² ¹¹ ⁴⁴ ⁶¹

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases

External Ids:

Disease Ontology⁹ DOID:0050581

OMIM⁴⁶ 113300, 112500, 112910 112700, 113100, 607004, 613382, 112450, 301940, 113200, 611377, 112440, 615072, 113000, 112800, 112600, more

Related Diseases for Brachydactyly

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

Diseases in the Brachydactyly Type A1 family:

brachydactyly	Brachydactyly Type A2
Brachydactyly Type A3	Brachydactyly Type A4
Brachydactyly Type A5	Brachydactyly Type A6
Brachydactyly Type A7	Brachydactyly Type B
Brachydactyly Type C	Brachydactyly Type E
Brachydactyly Type A1, B	Hoxd13-Related Brachydactyly
Brachydactyly, Type B2	Brachydactyly, Type E2
Brachydactyly, Type B1	Brachydactyly Type D
Brachydactyly, Type A1, C	Brachydactyly of Toes

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

(show top 50) (show all 463)

id	Related Disease	Score	Top Affiliating Genes
1	short stature	30.9	ROR2, GDF5
2	brachydactyly type b	30.9	ROR2, NOG
3	multiple synostosis syndrome 1	30.3	NOG
4	proximal symphalangism	30.1	ROR2, NOG
5	polydactyly	30.0	IHH, HOXD13
6	syndactyly	29.8	NOG, ROR2, GDF5, HOXD13
7	osteoporosis	29.7	NOG, PTHLH
8	brachydactyly type a1	10.5
9	brachydactyly type c	10.5
10	mental retardation	10.5
11	brachydactyly type a2	10.5
12	brachydactyly type e	10.4
13	hypertension	10.4
14	temtamy preaxial brachydactyly syndrome	10.4
15	fibular hypoplasia and complex brachydactyly	10.3
16	cryptomicrotia brachydactyly syndrome	10.3
17	brachydactyly-syndactyly syndrome	10.3
18	hirschsprung disease type d brachydactyly	10.3
19	brachydactyly, type b1	10.3
20	brachydactyly type d	10.3
21	brachydactyly type a4	10.3
22	coloboma of macula with type b brachydactyly	10.3
23	brachydactyly, type b2	10.3
24	brachydactyly long thumb type	10.2
25	brachydactyly type a5	10.2
26	brachydactyly types b and e combined	10.2
27	brachydactyly with hypertension	10.2
28	sugarman brachydactyly	10.2
29	robinow syndrome	10.2
30	spondyloepiphyseal dysplasia-brachydactyly and distinctive speech	10.2
31	2q37 microdeletion syndrome	10.2
32	brachydactyly mononen type	10.2
33	brachydactyly type a3	10.2
34	exostoses anetodermia brachydactyly type e	10.2
35	digital arthropathy-brachydactyly, familial	10.2
36	pseudohypoparathyroidism	10.1
37	anonychia-onychodystrophy with brachydactyly type b and ectrodactyly	10.1
38	brachydactyly type a6	10.1
39	brachydactyly type a7	10.1
40	spondyloperipheral dysplasia	10.1
41	thumb stiff brachydactyly mental retardation	10.1
42	liebenberg syndrome	10.1
43	metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	10.1
44	chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	10.1
45	ulnar/fibula ray defect - brachydactyly	10.1
46	ankylosis	10.1	NOG, GDF5
47	craniosynostosis	10.1
48	microcephaly	10.1
49	paraplegia	10.1
50	2q37 deletion syndrome	10.1

Graphical network of the top 20 diseases related to Brachydactyly:

Symptoms for Brachydactyly

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology
See all sources

Clinical features from OMIM:

113300, 112500, 112910, 112700, 113100, 607004, 613382, 112450, 301940, 113200 611377, 112440, 615072, 113000, 112800, 112600 more

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

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶¹UMLS, ⁴⁰NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Brachydactyly

Search NIH Clinical Center for Brachydactyly

Genetic Tests for Brachydactyly

Anatomical Context for Brachydactyly

Sources:
³²MalaCards
See all sources

MalaCards organs/tissues related to Brachydactyly:

³²

Bone, Heart, Thyroid, Testes, Myeloid

Animal Models for Brachydactyly or affiliated genes

Sources:
³⁶MGI
See all sources

MGI Mouse Phenotypes related to Brachydactyly:

³⁶ (show all 15)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	8.8	PTHLH, ROR2, IHH, NOG
2	cardiovascular system phenotype	MP:0005385	8.7	NOG, IHH, ROR2, PTHLH
3	limbs/digits/tail phenotype	MP:0005371	8.2	HOXD13, PTHLH, CHSY1, ROR2, IHH
4	muscle phenotype	MP:0005369	8.1	NOG, IHH, HOXD13, HDAC4
5	digestive/alimentary phenotype	MP:0005381	8.1	HOXD13, PTHLH, ROR2, IHH, NOG
6	reproductive system phenotype	MP:0005389	8.1	NOG, ROR2, PTHLH, GDF5, HOXD13
7	embryogenesis phenotype	MP:0005380	8.0	HOXD13, ROR2, IHH, NOG
8	endocrine/exocrine gland phenotype	MP:0005379	8.0	HOXD13, PTHLH, ROR2, IHH, NOG
9	integument phenotype	MP:0010771	8.0	HDAC4, HOXD13, PTHLH, NOG
10	craniofacial phenotype	MP:0005382	7.8	HDAC4, PTHLH, CHSY1, ROR2, IHH, NOG
11	vision/eye phenotype	MP:0005391	7.6	HOXD13, PTHLH, CHSY1, ROR2, IHH, NOG
12	nervous system phenotype	MP:0003631	7.4	HDAC4, HOXD13, PTHLH, ROR2, IHH, NOG
13	growth/size/body phenotype	MP:0005378	7.2	HDAC4, HOXD13, GDF5, PTHLH, ROR2, IHH
14	mortality/aging	MP:0010768	7.1	HDAC4, HOXD13, GDF5, PTHLH, ROR2, IHH
15	skeleton phenotype	MP:0005390	6.7	NOG, HDAC4, HOXD13, GDF5, PTHLH, CHSY1

Publications for Brachydactyly

Sources:
⁵¹PubMed
See all sources

Articles related to Brachydactyly:

(show top 50) (show all 304)

id	Title	Authors	Year
1	Brachydactyly E: isolated or as a feature of a syndrome. (24028571)	Pereda A.... Perez de Nanclares G.	2013
2	A misplaced lncRNA causes brachydactyly in humans. (23093776)	Maass P.G.... BAohring S.	2012
3	Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson. (22406540)	Palka C.... Stuppia L.	2012
4	A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family. (21357617)	Su P.... Wang Y.	2011
5	Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. (20962035)	Wang B.... Wang J.	2011
6	Brachydactyly type A1 with short humerus and associated skeletal features. (21077205)	Lacombe D.... Chateil J.F.	2010
7	A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism. (19952732)	Race H.... Wakeling E.L.	2010
8	A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. (20015959)	Maass P.G.... BAohring S.	2010
9	Pregnancy after preimplantation genetic diagnosis for brachydactyly type B. (19146779)	Hellani A.... El-Akoum S.	2009
10	A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities. (19938075)	Spiegel R.... Shalev S.A.	2009
11	Brachydactyly and ectodermal dysplasia--is it a new association? (18825805)	Anoop T.M.... Sujathan P.	2008
12	Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. (18283415)	Yang W.... Zhang X.	2008
13	A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. (17163524)	Castori M.... Dallapiccola B.	2007
14	An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. (15841179)	Niedermaier M.... Mundlos S.	2005
15	Catel-Manzke digitopalatal syndrome or Temtamy preaxial brachydactyly hyperphalangism syndrome? (16155426)	Temtamy S.A.	2005
16	Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome? (15930899)	Roper E.C.... Parker M.J.	2005
17	Brachydactyly and short stature in a kindred with early-onset parkinsonism. (15368505)	Dekker M.C.... van Duijn C.M.	2004
18	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)	Olivieri C.... Danesino C.	2003
19	Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome. (14564152)	Morava E.... MAches K.	2003
20	A novel mutation in the IHH gene causes brachydactyly type A1: a 95- year-old mystery resolved. (12384778)	McCready M.E.... Bulman D.E.	2002
21	Peculiar facial appearance and generalized brachydactyly in a patient with congenital onychodysplasia of the index fingers (Iso-Kikuchi syndrome). (11170077)	Franceschini P.... Franceschini D.	2001
22	Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (11169564)	Galjaard R.J.... Heutink P.	2001
23	Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. (10932186)	Afzal A.R.... Jeffery S.	2000
24	Brachydactyly type B: case report and further evidence for clinical heterogeneity. (10457848)	Slavotinek A.... Clayton-Smith J.	1999
25	Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. (9600744)	Graham J.M.... Jabs E.W.	1998
26	Brachydactyly type C gene maps to human chromsome 12q24. (8954778)	Polymeropoulos M.H.... Francomano C.A.	1996
27	Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12. (8673114)	Schuster H.... Luft F.C.	1996
28	Can cytomegalovirus cause brachydactyly? A case report and review of the literature. (8392455)	Cinbis M.... Balci S.	1993
29	Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome? (8305965)	Wittebol-Post D.... Hennekam R.C.	1993
30	New skeletal dysplasia with unique brachydactyly. (1632443)	Mononen T.K.... Falk R.E.	1992
31	Incidence of brachydactyly and hand exostosis in hereditary multiple exostosis. (1995669)	Cates H.E.... Burgess R.C.	1991
32	Brachydactyly type A-7 (Smorgasbord): a new entity. (2714013)	Meiselman S.A.... Goodman R.M.	1989
33	Familial combination of brachydactyly, type E and atrial septal defect, type II. (2591402)	Czeizel A.... GAPblyAPs P.	1989
34	Brachydactyly among prehistoric native Americans. (12862093)	Loveland C.J.... GREGG J.B.	1987
35	Coexistent pseudohypoparathyroidism and D brachydactyly in a family. (3815876)	Graudal N.... Bonde J.	1986
36	Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome? (4025394)	Richieri-Costa A.... Otto P.A.	1985
37	New syndrome: exostoses, anetodermia, brachydactyly. (6334993)	Mollica F.... Guarneri B.	1984
38	Brachydactyly with major involvement of proximal phalanges. (7083610)	Fujimoto A.... Wilson M.G.	1982
39	Bilateral femoral head collapse in an adolescent with brachydactyly (multiple epiphyseal dysplasia tarda type 1c). (7334105)	Wenger D.R.... Ezaki M.	1981
40	Familial colorectal cancer and hereditary brachydactyly. (6784851)	Macrae F.A.... St John D.J.	1981
41	Brachydactyly and polydactyly with dermal ridge dissociation and ridge hypoplasia. (513089)	Crawfurd M.D.... SaldaA+a-Garcia P.	1979
42	Brachydactyly type B and symphalangism in different members of a Mexican family. (1081366)	Zavala C.... Lisker R.	1975
43	A new syndrome of brachydactyly of the hands and feet with duplication of the first toes. (4469972)	Sugarman G.I.... Kulik W.J.	1974
44	Dermatoglyphics in patients with a syndrome of brachydactyly, short stature and hypertension. (4805188)	Taysi K.... Bilginturan N.	1973
45	Hereditary brachydactyly associated with hypertension. (4774535)	Bilginturan N.... Pirnar T.	1973
46	An unusual case of brachydactyly. Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone epiphyses? (6020652)	Arkless R.... Graham C.B.	1967
47	Brachydactyly and outflow heart tract obstruction. Report of two cases. (6081024)	SA!nchez Cascos A.	1967
48	Hereditary brachydactyly. (5961825)	Hoefnagel D.... Gerald P.S.	1966
49	Inherited brachydactyly and hypoplasia of the bones of the extremities. (13953230)	HAWS D.V.	1963
50	Familial brachydactyly with associated bilateral coxitis. (21018438)	BRAILSFORD J.F.	1946

Genes related to Brachydactyly

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals
See all sources

Genes related to Brachydactyly:

- Elite gene

id	Symbol	Description	Score	Implication
1	GDF5	growth differentiation factor 5	21.52	GeneCards inferred via : Disorders, Publications, Summaries (show sections)
2	ROR2	receptor tyrosine kinase-like orphan receptor 2	18.99	GeneCards inferred via : Disorders, Summaries, Publications (show sections)
3	IHH	indian hedgehog	16.46	GeneCards inferred via : Disorders, Publications, Summaries (show sections)
4	PTHLH	parathyroid hormone-like hormone	13.96	GeneCards inferred via : Disorders, Publications, Summaries (show sections)
5	CHSY1	chondroitin sulfate synthase 1	11.43	GeneCards inferred via : Publications, Disorders, Summaries (show sections)
6	HDAC4	histone deacetylase 4	8.91	GeneCards inferred via : Publications, Disorders, Gene name (show sections)
7	HOXD13	homeobox D13	6.36	GeneCards inferred via : Disorders, Publications (show sections)
8	NOG	noggin	3.80	GeneCards inferred via : Disorders, Publications (show sections)

Products for genes related to Brachydactyly disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	8	-	8	8
2	Novus Biologicals	7	6	8	-

Variations for Brachydactyly

Expression for genes affiliated with Brachydactyly

Sources:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
See all sources

Expression patterns in normal tissues for genes affiliated with Brachydactyly

Search GEO for disease gene expression data for Brachydactyly.

Pathways for genes affiliated with Brachydactyly

Sources:
⁴⁹PathCards, ³⁷NCBI BioSystems Database, ⁵⁹Thomson Reuters, ⁵⁵SinoBiological, ³⁰KEGG, ⁵²QIAGEN, ⁵⁴Reactome
See all sources

Pathways related to Brachydactyly according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Signaling events mediated by the Hedgehog family³⁷	9.6	IHH, PTHLH
2	Development Hedgehog and PTH signaling pathways in bone and cartilage development⁵⁹	9.6	PTHLH, IHH
3	TGF-beta Signaling Pathway⁵⁵	9.6	NOG, GDF5
4	TGF-beta Signaling Pathway⁵⁵ Show member pathways TGF-beta signaling pathway³⁰	9.6	NOG, GDF5
5	Cardiac Progenitor Differentiation³⁷	9.6	NOG, ROR2
6	Activation of cAMP-Dependent PKA⁵² Show member pathways PKA Signaling⁵² Activation of PKA through GPCR⁵² cAMP Pathway⁵²	9.3	GDF5, ROR2, IHH
7	Endochondral Ossification³⁷	9.0	IHH, PTHLH, HDAC4
8	Signaling by GPCR⁵⁴ Show member pathways GPCR downstream signaling⁵⁴ Signal Transduction⁵⁴	8.1	HDAC4, PTHLH, ROR2, IHH, NOG

Compounds for genes affiliated with Brachydactyly

Sources:
⁴⁴Novoseek, ⁶⁰Tocris Bioscience, ³BitterDB, ⁵⁰PharmGKB, ¹²DrugBank, ²⁵HMDB
See all sources

Compounds related to Brachydactyly according to GeneCards/GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	cyclopamine⁴⁴ ⁶⁰	10.7	NOG, IHH
2	azathioprine⁴⁴ ³ ⁵⁰ ¹²	12.6	NOG, PTHLH
3	heparan sulfate⁴⁴ ²⁵	10.5	NOG, PTHLH
4	lysine⁴⁴	9.0	NOG, PTHLH, HDAC4
5	threonine⁴⁴	9.0	PTHLH, GDF5, HDAC4
6	tyrosine⁴⁴	8.8	GDF5, PTHLH, ROR2, NOG
7	alanine⁴⁴	8.3	HDAC4, HOXD13, PTHLH

GO Terms for genes affiliated with Brachydactyly

Sources:
¹⁷Gene Ontology
See all sources

Cellular components related to Brachydactyly according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:005576	8.6	NOG, CHSY1, PTHLH, GDF5
2	extracellular space	GO:005615	8.4	NOG, IHH, PTHLH, GDF5

Biological processes related to Brachydactyly according to GeneCards/GeneDecks:

(show all 14)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of chondrocyte differentiation	GO:032332	10.0	GDF5, IHH
2	somite development	GO:061053	9.8	NOG, IHH
3	osteoblast development	GO:002076	9.6	PTHLH, HDAC4
4	osteoblast differentiation	GO:001649	9.6	IHH, NOG
5	negative regulation of canonical Wnt signaling pathway	GO:090090	9.6	NOG, ROR2
6	negative regulation of osteoblast differentiation	GO:045668	9.5	NOG, HDAC4
7	cell-cell signaling	GO:007267	9.5	GDF5, PTHLH, IHH
8	positive regulation of epithelial cell proliferation	GO:050679	9.4	NOG, IHH
9	negative regulation of sequence-specific DNA binding transcription factor activity	GO:043433	9.4	PTHLH, HDAC4
10	cartilage development	GO:051216	9.2	NOG, IHH
11	embryonic digit morphogenesis	GO:042733	9.2	NOG, HOXD13
12	negative regulation of cell proliferation	GO:008285	9.2	ROR2, PTHLH, HDAC4
13	positive regulation of transcription from RNA polymerase II promoter	GO:045944	8.3	NOG, IHH, HOXD13, HDAC4
14	skeletal system development	GO:001501	7.9	NOG, IHH, PTHLH, HOXD13, HDAC4