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 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 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.

Wikipedia:71 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 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 & 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 hallmark (90%) HP:0001156
2 short toe64 hallmark (90%) HP:0001831
3 abnormality of the metacarpal bones64 typical (50%) HP:0001163
4 short stature64 typical (50%) HP:0004322
5 hand polydactyly64 occasional (7.5%) HP:0001161
6 toe syndactyly64 occasional (7.5%) HP:0001770
7 finger syndactyly64 occasional (7.5%) HP:0006101
8 ulnar deviation of finger64 occasional (7.5%) HP:0009465
9 symphalangism affecting the phalanges of the hand64 occasional (7.5%) HP:0009773

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

41 (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

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 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
A PDE3A mutation in familial hypertension and brachydactyly syndrome. (27053290)
2016
4
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. (26733284)
2016
5
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
6
EP10.22: Look at the fetal hands: case of brachydactyly. (27645172)
2016
7
Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels. (26855372)
2016
8
Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. (27723096)
2016
9
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. (27115209)
2016
10
Anonychia with absent phalanges and brachydactyly: A report of two unrelated cases. (27320764)
2016
11
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? (25994865)
2015
12
Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. (25801215)
2015
13
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1. (25932455)
2015
14
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. (25758993)
2015
15
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C. (25820810)
2015
16
Concomitance of types D and E brachydactyly: a case report. (26698251)
2015
17
RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. (26333564)
2015
18
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
19
Novel mutation in the BMPR1B gene (R486L) in a polish family and further delineation of the phenotypic features of BMPR1B-Related brachydactyly. (25776145)
2015
20
Mutation screening in candidate genes in four Chinese brachydactyly families. (25696018)
2015
21
PDE3A mutations cause autosomal dominant hypertension with brachydactyly. (25961942)
2015
22
Clinical Effects of Phosphodiesterase 3A Mutations in Inherited Hypertension With Brachydactyly. (26283042)
2015
23
Hypotrichosis, milia, brachydactyly, and frenula. (26177262)
2015
24
Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). (24710560)
2014
25
Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. (24715855)
2014
26
Brachydactyly and atrial septal defect: when the digits point to the heart. (25456580)
2014
27
Leukaemia cutis as the initial manifestation in a child with brachydactyly in chronic phase of chronic myeloid leukaemia. (25158808)
2014
28
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. (25402011)
2014
29
A new mutation in the gene ROR2 causes brachydactyly type B1. (24954533)
2014
30
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C. (25092592)
2014
31
A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. (24269551)
2014
32
Gradual development of brachydactyly in pseudohypoparathyroidism. (24684469)
2014
33
Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature. (25400355)
2014
34
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly in a Finnish Woman: First Confirmation of a Duplication in RUNX2 as Pathogenic Variant. (25311905)
2014
35
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability. (24357125)
2013
36
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. (23073310)
2013
37
Absence of nasal bone and brachydactyly: a probable new familial syndrome. (23810940)
2013
38
Non-syndromic brachydactyly, known as Shamoji-yubi or Mamushi-yubi in Japan. (24081602)
2013
39
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
40
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
41
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. (23290074)
2013
42
Brachydactyly E: isolated or as a feature of a syndrome. (24028571)
2013
43
Targeted loss of the ATR-X syndrome protein in the limb mesenchyme of mice causes brachydactyly. (23892236)
2013
44
Embryology of familial (non-syndromic) brachydactyly of the hand. (24300509)
2013
45
A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B. (23238279)
2013
46
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. (23483675)
2013
47
Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism. (23645122)
2013
48
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. (23188045)
2013
49
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson. (22406540)
2012
50
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2. (22821680)
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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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
1negative regulation of chondrocyte differentiationGO:003233110.8GDF5, PTHLH
2positive regulation of smoothened signaling pathwayGO:004588010.7CHSY1, IHH
3embryonic skeletal joint morphogenesisGO:006027210.4COL2A1, NOG
4embryonic digit morphogenesisGO:004273310.4HOXD13, NOG, ROR2
5positive regulation of cartilage developmentGO:006103610.4BMP2, BMPR1B
6anatomical structure formation involved in morphogenesisGO:004864610.3NOG, TRPS1
7mesenchymal cell differentiationGO:004876210.3BMP2, NOG
8cartilage condensationGO:000150210.3BMPR1B, COL2A1, ROR2
9somite developmentGO:006105310.3IHH, NOG
10limb morphogenesisGO:003510810.3BMPR1B, COL2A1, HOXD13
11chondrocyte developmentGO:000206310.2BMPR1B, CHSY1, RUNX2
12osteoblast developmentGO:000207610.2HDAC4, PTHLH, RUNX2
13proteoglycan metabolic processGO:000602910.2BMP2, COL2A1
14tissue homeostasisGO:000189410.1COL2A1, GNAS
15positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusGO:190152210.1BMP2, RUNX2
16regulation of odontogenesis of dentin-containing toothGO:004248710.1BMP2, RUNX2
17endochondral ossificationGO:000195810.1COL2A1, GNAS, RUNX2
18cell-cell signalingGO:000726710.0BMP2, GDF5, IHH, PTHLH
19positive regulation of chondrocyte differentiationGO:003233210.0BMPR1B, GDF5, IHH, RUNX2
20SMAD protein signal transductionGO:006039510.0BMP2, GDF5, ROR2
21cell fate commitmentGO:004516510.0BMP2, ROR2, TRPS1
22transmembrane receptor protein serine/threonine kinase signaling pathwayGO:000717810.0BMPR1B, GDF5
23positive regulation of vascular permeabilityGO:00431179.9PDE3A, TRPV4
24cartilage developmentGO:00512169.9CHSY1, COL2A1, GNAS, NOG
25osteoblast differentiationGO:00016499.8BMP2, NOG, RUNX2
26positive regulation of osteoblast differentiationGO:00456699.6BMP2, BMPR1B, GNAS, RUNX2
27animal organ morphogenesisGO:00098879.6BMP2, FGD1, TRPS1
28BMP signaling pathwayGO:00305099.4BMP2, BMPR1B, NOG, ROR2, RUNX2
29chondrocyte differentiationGO:00020629.3BMP2, BMPR1B, COL2A1, GDF5, RUNX2
30cellular response to BMP stimulusGO:00717739.2BMP2, BMPR1B, COL2A1, NOG, RUNX2
31negative regulation of transcription from RNA polymerase II promoterGO:00001228.6BMP2, HDAC4, NOG, TRPS1, TRPV4
32positive regulation of transcription from RNA polymerase II promoterGO:00459448.1BMP2, BMPR1B, HDAC4, HOXD13, IHH, NOG
33skeletal system developmentGO:00015017.4BMP2, BMPR1B, COL2A1, HDAC4, HOXD13, IHH

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