MCID: BRC006
MIFTS: 54

Brachydactyly malady

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

Aliases & Classifications for Brachydactyly

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Aliases & Descriptions for Brachydactyly:

Name: Brachydactyly 11 48 27 50 13 68

Classifications:



External Ids:

Disease Ontology11 DOID:0050581

Summaries for Brachydactyly

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NIH Rare Diseases:48 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 b2 and tarsal-carpal coalition syndrome, and has symptoms including brachydactyly syndrome, hand polydactyly and toe syndactyly. 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 hearing/vestibular/ear and renal/urinary system.

Disease Ontology:11 A dysostosis characterized by short fingers and toes.

Wikipedia:71 Brachydactyly (Greek βραχύς = \"short\" plus δάκτυλος =... 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 A3
Brachydactyly Type A1d Brachydactyly Type A5
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 268)
idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly, type b233.3NOG, ROR2
2tarsal-carpal coalition syndrome31.0BMP2, BMPR1B, GDF5, NOG, ROR2
3multiple synostoses syndrome30.9BMP2, BMPR1B, GDF5, NOG, ROR2
4pseudohypoparathyroidism ic30.9GNAS, HDAC4
5brachydactyly, type a112.2
6brachydactyly, type a212.2
7hypertension and brachydactyly syndrome12.2
8brachydactyly, type c12.2
9brachydactyly, type e12.2
10brachydactyly, type b112.2
11temtamy preaxial brachydactyly syndrome12.2
12brachydactyly, type d12.1
13brachydactyly-syndactyly syndrome12.1
14brachydactyly, type a1, c12.0
15brachydactyly, type e212.0
16brachydactyly type a312.0
17brachydactyly, combined b and e types12.0
18brachydactyly type a1d12.0
19metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly12.0
20chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia12.0
21digital arthropathy-brachydactyly, familial11.9
22brachydactyly, preaxial, with hallux varus and thumb abduction11.9
23brachydactyly, type a411.9
24brachydactyly, mononen type11.9
25sugarman brachydactyly11.9
26brachydactyly, type a1, b11.9
27short stature, brachydactyly, intellectual developmental disability, and seizures11.9
28digital arthropathy-brachydactyly11.8
29uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly11.7
30ulnar/fibular ray defect and brachydactyly11.7
31cryptomicrotia-brachydactyly syndrome11.7
32hirschsprung disease with type d brachydactyly11.7
33long-thumb brachydactyly syndrome11.7
34brachydactyly anonychia11.7
35brachydactyly type a511.7
36spondyloepiphyseal dysplasia-brachydactyly and distinctive speech11.7
37coloboma of macula with type b brachydactyly11.7
38brachydactyly elbow wrist dysplasia11.7
39brachydactyly type a711.7
40du pan syndrome11.6
41exostoses with anetodermia and brachydactyly, type e11.6
42brachydactyly-nystagmus-cerebellar ataxia11.6
43brachydactyly-mesomelia-intellectual disability-heart defects syndrome11.6
44liebenberg syndrome11.6
45thumbs, stiff, with brachydactyly type a1 and developmental delay11.6
46brachydactyly-distal symphalangism syndrome11.6
47robin sequence with distinctive facial appearance and brachydactyly11.6
48anonychia-onychodystrophy with brachydactyly type b and ectrodactyly11.6
49metaphyseal dysplasia maxillary hypoplasia brachydactyly11.6
50thumb stiff brachydactyly mental retardation11.6

Graphical network of the top 20 diseases related to Brachydactyly:



Diseases related to brachydactyly

Symptoms & Phenotypes for Brachydactyly

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Human phenotypes related to Brachydactyly:

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 brachydactyly syndrome64 HP:0001156
2 hand polydactyly64 HP:0001161
3 toe syndactyly64 HP:0001770
4 short toe64 HP:0001831
5 short stature64 HP:0004322
6 finger syndactyly64 HP:0006101
7 ulnar deviation of finger64 HP:0009465
8 symphalangism affecting the phalanges of the hand64 HP:0009773
9 short metacarpal64 HP:0010049

MGI Mouse Phenotypes related to Brachydactyly according to GeneCards Suite gene sharing:

41 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2BMP2, COL2A1, GNAS, NOG, ROR2
2MP:00053678.7COL2A1, GNAS, HOXD13, NOG, PTCH1, PTHLH
3MP:00053698.4GNAS, HDAC4, HOXD13, IHH, NOG, PTCH1
4MP:00107718.4GNAS, HDAC4, HOXD13, NOG, PTCH1, PTHLH
5MP:00053798.0BMPR1B, GNAS, HOXD13, IHH, NOG, PTCH1
6MP:00053807.9BMP2, BMPR1B, COL2A1, HOXD13, IHH, NOG
7MP:00053887.9COL2A1, GNAS, IHH, NOG, PTCH1, PTHLH
8MP:00053847.6BMP2, BMPR1B, GNAS, IHH, NOG, PTCH1
9MP:00053817.5BMP2, COL2A1, HOXD13, IHH, NOG, PTCH1
10MP:00053857.4BMP2, COL2A1, GNAS, IHH, NOG, PTCH1
11MP:00053897.2BMP2, BMPR1B, GDF5, HOXD13, NOG, PDE3A
12MP:00036316.7BMP2, BMPR1B, COL2A1, GNAS, HDAC4, IHH
13MP:00053916.6BMPR1B, CHSY1, COL2A1, HOXD13, IHH, NOG
14MP:00053826.5BMP2, BMPR1B, CHSY1, COL2A1, GNAS, HDAC4
15MP:00053716.3BMP2, BMPR1B, CHSY1, COL2A1, GDF5, GNAS
16MP:00107686.2BMP2, BMPR1B, COL2A1, GDF5, GNAS, HDAC4
17MP:00053785.8BMP2, BMPR1B, COL2A1, GDF5, GNAS, HDAC4
18MP:00053905.4BMP2, BMPR1B, CHSY1, COL2A1, GDF5, GNAS

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 Syndrome27
2 Brachydactyly27

Anatomical Context for Brachydactyly

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MalaCards organs/tissues related to Brachydactyly:

36
Bone, Heart, Thyroid, Myeloid, Testes

Publications for Brachydactyly

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Articles related to Brachydactyly:

(show top 50)    (show all 334)
idTitleAuthorsYear
1
Brachydactyly type E in an Italian family with 6p25 trisomy. (28111183)
2017
2
Anonychia with absent phalanges and brachydactyly: A report of two unrelated cases. (27320764)
2016
3
EP10.22: Look at the fetal hands: case of brachydactyly. (27645172)
2016
4
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. (27115209)
2016
5
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. (26640227)
2016
6
Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. (27723096)
2016
7
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
8
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. (27718516)
2016
9
Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels. (26855372)
2016
10
A PDE3A mutation in familial hypertension and brachydactyly syndrome. (27053290)
2016
11
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. (26733284)
2016
12
Hypotrichosis, milia, brachydactyly, and frenula. (26177262)
2015
13
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? (25994865)
2015
14
RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. (26333564)
2015
15
Concomitance of types D and E brachydactyly: a case report. (26698251)
2015
16
Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. (25801215)
2015
17
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1. (25932455)
2015
18
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C. (25820810)
2015
19
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. (25758993)
2015
20
Novel mutation in the BMPR1B gene (R486L) in a polish family and further delineation of the phenotypic features of BMPR1B-Related brachydactyly. (25776145)
2015
21
Mutation screening in candidate genes in four Chinese brachydactyly families. (25696018)
2015
22
PDE3A mutations cause autosomal dominant hypertension with brachydactyly. (25961942)
2015
23
Clinical Effects of Phosphodiesterase 3A Mutations in Inherited Hypertension With Brachydactyly. (26283042)
2015
24
Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B. (25756154)
2015
25
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. (25402011)
2014
26
Brachydactyly and atrial septal defect: when the digits point to the heart. (25456580)
2014
27
A new mutation in the gene ROR2 causes brachydactyly type B1. (24954533)
2014
28
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C. (25092592)
2014
29
Leukaemia cutis as the initial manifestation in a child with brachydactyly in chronic phase of chronic myeloid leukaemia. (25158808)
2014
30
Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature. (25400355)
2014
31
Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). (24710560)
2014
32
Gradual development of brachydactyly in pseudohypoparathyroidism. (24684469)
2014
33
Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. (24715855)
2014
34
A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. (24269551)
2014
35
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly in a Finnish Woman: First Confirmation of a Duplication in RUNX2 as Pathogenic Variant. (25311905)
2014
36
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. (23188045)
2013
37
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. (23483675)
2013
38
Absence of nasal bone and brachydactyly: a probable new familial syndrome. (23810940)
2013
39
Brachydactyly E: isolated or as a feature of a syndrome. (24028571)
2013
40
Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family. (23812741)
2013
41
Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal. (24022874)
2013
42
Embryology of familial (non-syndromic) brachydactyly of the hand. (24300509)
2013
43
Targeted loss of the ATR-X syndrome protein in the limb mesenchyme of mice causes brachydactyly. (23892236)
2013
44
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. (23073310)
2013
45
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. (23290074)
2013
46
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability. (24357125)
2013
47
A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B. (23238279)
2013
48
Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism. (23645122)
2013
49
Non-syndromic brachydactyly, known as Shamoji-yubi or Mamushi-yubi in Japan. (24081602)
2013
50
Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. (22233338)
2012

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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Pathways related to Brachydactyly according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
19.6BMP2, BMPR1B
29.5GNAS, PDE3A, PTHLH
39.3BMP2, COL2A1
4
Show member pathways
9.1IHH, PTCH1, PTHLH
5
Show member pathways
8.9BMP2, BMPR1B, GDF5, NOG
6
Show member pathways
8.8GNAS, IHH, PTCH1, PTHLH
7
Show member pathways
8.8BMP2, BMPR1B, GNAS, NOG
8
Show member pathways
8.6BMP2, BMPR1B, NOG, RUNX2
9
Show member pathways
8.5BMP2, GNAS, PTCH1, ROR2
108.3GNAS, IHH, PTCH1, PTHLH, RUNX2
118.2BMP2, COL2A1, GDF5, NOG, RUNX2
12
Show member pathways
8.1BMP2, GNAS, IHH, PDE3A, PTCH1
137.8COL2A1, HDAC4, IHH, PTCH1, PTHLH, RUNX2
14
Show member pathways
7.6BMP2, GDF5, GNAS, IHH, PDE3A, PTCH1

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 regionGO:00055767.6BMP2, CHSY1, COL2A1, GDF5, GNAS, IHH

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

(show all 43)
idNameGO IDScoreTop Affiliating Genes
1male genitalia developmentGO:003053910.8HOXD13, ROR2
2negative regulation of chondrocyte differentiationGO:003233110.7GDF5, PTHLH
3regulation of protein bindingGO:004339310.3HDAC4, PRMT7
4embryonic skeletal joint morphogenesisGO:006027210.3COL2A1, NOG
5positive regulation of cartilage developmentGO:006103610.3BMP2, BMPR1B
6endocardial cushion morphogenesisGO:000320310.2BMP2, NOG
7mesenchymal cell differentiationGO:004876210.2BMP2, NOG
8hindlimb morphogenesisGO:003513710.2GDF5, PTCH1
9cartilage condensationGO:000150210.2BMPR1B, COL2A1, ROR2
10chondrocyte developmentGO:000206310.1BMPR1B, CHSY1, RUNX2
11embryonic digit morphogenesisGO:004273310.1HOXD13, IHH, NOG, ROR2
12osteoblast developmentGO:000207610.1HDAC4, PTHLH, RUNX2
13negative regulation of multicellular organism growthGO:004001510.1GNAS, PTCH1
14positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusGO:190152210.0BMP2, RUNX2
15regulation of odontogenesis of dentin-containing toothGO:004248710.0BMP2, RUNX2
16tissue homeostasisGO:000189410.0COL2A1, GNAS
17transmembrane receptor protein serine/threonine kinase signaling pathwayGO:000717810.0BMPR1B, GDF5
18embryonic limb morphogenesisGO:003032610.0GDF5, HOXD13, PTCH1
19SMAD protein signal transductionGO:00603959.9BMP2, GDF5, ROR2
20positive regulation of chondrocyte differentiationGO:00323329.9BMPR1B, GDF5, IHH, RUNX2
21cell-cell signalingGO:00072679.9BMP2, GDF5, IHH, PTHLH
22negative regulation of smoothened signaling pathwayGO:00458799.9PTCH1, RUNX2
23endochondral ossificationGO:00019589.9COL2A1, GNAS, RUNX2
24proteoglycan metabolic processGO:00060299.8BMP2, COL2A1, IHH
25pattern specification processGO:00073899.7HOXD13, NOG, PTCH1
26dorsal/ventral pattern formationGO:00099539.7BMPR1B, NOG, PTCH1
27negative regulation of osteoblast differentiationGO:00456689.7HDAC4, NOG, PTCH1
28smoothened signaling pathwayGO:00072249.6IHH, PTCH1, ROR2
29ossificationGO:00015039.6BMP2, COL2A1, RUNX2
30positive regulation of osteoblast differentiationGO:00456699.5BMP2, BMPR1B, GNAS, RUNX2
31osteoblast differentiationGO:00016499.4BMP2, IHH, NOG, RUNX2
32somite developmentGO:00610539.4IHH, NOG, PTCH1
33limb morphogenesisGO:00351089.3BMPR1B, COL2A1, HOXD13, PTCH1
34response to drugGO:00424939.2GNAS, HDAC4, PDE3A, PTCH1
35BMP signaling pathwayGO:00305099.2BMP2, BMPR1B, NOG, ROR2, RUNX2
36in utero embryonic developmentGO:00017019.1BMP2, IHH, NOG, PTCH1
37chondrocyte differentiationGO:00020629.1BMP2, BMPR1B, COL2A1, GDF5, RUNX2
38negative regulation of cell proliferationGO:00082858.9BMP2, HDAC4, PTCH1, PTHLH, ROR2
39cellular response to BMP stimulusGO:00717738.9BMP2, BMPR1B, COL2A1, NOG, RUNX2
40positive regulation of transcription, DNA-templatedGO:00458938.6BMP2, HDAC4, PTCH1, ROR2, RUNX2
41cartilage developmentGO:00512168.6BMP2, BMPR1B, CHSY1, COL2A1, GDF5, GNAS
42positive regulation of transcription from RNA polymerase II promoterGO:00459448.5BMP2, BMPR1B, HDAC4, HOXD13, IHH, NOG
43skeletal system developmentGO:00015017.0BMP2, BMPR1B, COL2A1, GNAS, HDAC4, HOXD13

Molecular functions related to Brachydactyly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1patched bindingGO:00051139.4IHH, PTCH1

Sources for Brachydactyly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet