MCID: BRC006
MIFTS: 54

Brachydactyly malady

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

Aliases & Classifications for Brachydactyly

Aliases & Descriptions for Brachydactyly:

Name: Brachydactyly 12 50 29 29 52 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:0050581

Summaries for Brachydactyly

NIH Rare Diseases : 50 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 finger syndactyly, short stature and short toe. An important gene associated with Brachydactyly is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and G-Beta Gamma Signaling. Affiliated tissues include bone, heart and thyroid, and related phenotypes are growth/size/body region and craniofacial

Disease Ontology : 12 A dysostosis characterized by short fingers and toes.

Wikipedia : 71 Brachydactyly (Greek βραχύς = \"short\" plus δάκτυλος = \"finger\"), is a medical term... more...

Related Diseases for Brachydactyly

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)
id Related Disease Score Top Affiliating Genes
1 brachydactyly, type b2 33.3 NOG ROR2
2 tarsal-carpal coalition syndrome 31.0 BMP2 BMPR1B GDF5 NOG ROR2
3 multiple synostoses syndrome 30.9 BMP2 BMPR1B GDF5 NOG ROR2
4 pseudohypoparathyroidism ic 30.9 GNAS HDAC4
5 brachydactyly, type a1 12.2
6 brachydactyly, type a2 12.2
7 hypertension and brachydactyly syndrome 12.2
8 brachydactyly, type c 12.2
9 brachydactyly, type e 12.2
10 brachydactyly, type b1 12.2
11 temtamy preaxial brachydactyly syndrome 12.2
12 brachydactyly, type d 12.1
13 brachydactyly-syndactyly syndrome 12.1
14 brachydactyly, type a1, c 12.0
15 brachydactyly, type e2 12.0
16 brachydactyly type a3 12.0
17 brachydactyly, combined b and e types 12.0
18 brachydactyly type a1d 12.0
19 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 12.0
20 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.0
21 digital arthropathy-brachydactyly, familial 11.9
22 brachydactyly, type a4 11.9
23 brachydactyly, preaxial, with hallux varus and thumb abduction 11.9
24 brachydactyly, mononen type 11.9
25 sugarman brachydactyly 11.9
26 brachydactyly, type a1, b 11.9
27 short stature, brachydactyly, intellectual developmental disability, and seizures 11.9
28 digital arthropathy-brachydactyly 11.8
29 ulnar/fibular ray defect and brachydactyly 11.7
30 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 11.7
31 cryptomicrotia-brachydactyly syndrome 11.7
32 hirschsprung disease with type d brachydactyly 11.7
33 long-thumb brachydactyly syndrome 11.7
34 brachydactyly anonychia 11.7
35 brachydactyly type a5 11.7
36 brachydactyly elbow wrist dysplasia 11.7
37 coloboma of macula with type b brachydactyly 11.7
38 brachydactyly type a7 11.7
39 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.7
40 du pan syndrome 11.6
41 brachydactyly-nystagmus-cerebellar ataxia 11.6
42 exostoses with anetodermia and brachydactyly, type e 11.6
43 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 11.6
44 liebenberg syndrome 11.6
45 robin sequence with distinctive facial appearance and brachydactyly 11.6
46 metaphyseal dysplasia maxillary hypoplasia brachydactyly 11.6
47 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 11.6
48 thumbs, stiff, with brachydactyly type a1 and developmental delay 11.6
49 brachydactyly-distal symphalangism syndrome 11.6
50 thumb stiff brachydactyly mental retardation 11.6

Graphical network of the top 20 diseases related to Brachydactyly:



Diseases related to Brachydactyly

Symptoms & Phenotypes for Brachydactyly

Human phenotypes related to Brachydactyly:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 finger syndactyly 32 HP:0006101
2 short stature 32 HP:0004322
3 short toe 32 HP:0001831
4 brachydactyly syndrome 32 HP:0001156
5 hand polydactyly 32 HP:0001161
6 toe syndactyly 32 HP:0001770
7 ulnar deviation of finger 32 HP:0009465
8 symphalangism affecting the phalanges of the hand 32 HP:0009773
9 short metacarpal 32 HP:0010049

MGI Mouse Phenotypes related to Brachydactyly:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 BMP2 BMPR1B COL2A1 GDF5 GNAS HDAC4
2 craniofacial MP:0005382 10.34 PTHLH ROR2 RUNX2 BMP2 BMPR1B CHSY1
3 limbs/digits/tail MP:0005371 10.27 NOG PTCH1 PTHLH ROR2 RUNX2 BMP2
4 mortality/aging MP:0010768 10.25 PTHLH ROR2 RUNX2 BMP2 BMPR1B COL2A1
5 cardiovascular system MP:0005385 10.23 BMP2 COL2A1 GNAS IHH NOG PTCH1
6 cellular MP:0005384 10.22 BMP2 BMPR1B GNAS IHH NOG PTCH1
7 digestive/alimentary MP:0005381 10.2 COL2A1 HOXD13 IHH NOG PTCH1 PTHLH
8 endocrine/exocrine gland MP:0005379 10.18 ROR2 RUNX2 BMPR1B GNAS HOXD13 IHH
9 embryo MP:0005380 10.14 BMP2 BMPR1B COL2A1 HOXD13 IHH NOG
10 nervous system MP:0003631 10.11 PTHLH ROR2 RUNX2 BMP2 BMPR1B COL2A1
11 integument MP:0010771 10.02 HOXD13 NOG PTCH1 PTHLH RUNX2 GNAS
12 reproductive system MP:0005389 9.96 BMP2 BMPR1B GDF5 HOXD13 NOG PDE3A
13 muscle MP:0005369 9.95 GNAS HDAC4 HOXD13 IHH NOG PTCH1
14 hearing/vestibular/ear MP:0005377 9.89 BMP2 COL2A1 GNAS NOG ROR2
15 skeleton MP:0005390 9.83 BMP2 BMPR1B CHSY1 COL2A1 GDF5 GNAS
16 renal/urinary system MP:0005367 9.8 COL2A1 GNAS HOXD13 NOG PTCH1 PTHLH
17 respiratory system MP:0005388 9.76 COL2A1 GNAS IHH NOG PTCH1 PTHLH
18 vision/eye MP:0005391 9.32 BMPR1B CHSY1 COL2A1 HOXD13 IHH NOG

Drugs & Therapeutics for Brachydactyly

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of Skeletal Disorders and Short Stature Completed NCT00001754
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Brachydactyly

Genetic Tests for Brachydactyly

Genetic tests related to Brachydactyly:

id Genetic test Affiliating Genes
1 Brachydactyly Syndrome 29
2 Brachydactyly 29

Anatomical Context for Brachydactyly

MalaCards organs/tissues related to Brachydactyly:

39
Bone, Heart, Thyroid, Testes, Myeloid

Publications for Brachydactyly

Articles related to Brachydactyly:

(show top 50) (show all 334)
id Title Authors Year
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

ClinVar genetic disease variations for Brachydactyly:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh37 Chromosome 20, 57466866: 57466866

Expression for Brachydactyly

Search GEO for disease gene expression data for Brachydactyly.

Pathways for Brachydactyly

Pathways related to Brachydactyly according to GeneCards Suite gene sharing:

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 BMP2 GDF5 GNAS IHH PDE3A PTCH1
2
Show member pathways
12.64 BMP2 GNAS IHH PDE3A PTCH1
3
Show member pathways
12.2 BMP2 BMPR1B GNAS NOG
4
Show member pathways
12.13 GNAS IHH PTCH1 PTHLH
5
Show member pathways
12.06 BMP2 GNAS PTCH1 ROR2
6 11.88 GNAS PDE3A PTHLH
7 11.55 BMP2 BMPR1B GDF5 NOG
8 11.54 BMP2 COL2A1 GDF5 NOG RUNX2
9
Show member pathways
11.42 BMP2 BMPR1B NOG RUNX2
10
Show member pathways
11.02 IHH PTCH1 PTHLH
11 10.94 GNAS IHH PTCH1 PTHLH RUNX2
12 10.91 COL2A1 HDAC4 IHH PTCH1 PTHLH RUNX2
13 10.87 BMP2 BMPR1B
14 10.82 BMP2 COL2A1

GO Terms for Brachydactyly

Cellular components related to Brachydactyly according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.23 BMP2 CHSY1 COL2A1 GDF5 GNAS IHH

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

(show all 43)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.97 GNAS HDAC4 PDE3A PTCH1
2 cell-cell signaling GO:0007267 9.96 BMP2 GDF5 IHH PTHLH
3 in utero embryonic development GO:0001701 9.92 BMP2 IHH NOG PTCH1
4 osteoblast differentiation GO:0001649 9.85 BMP2 IHH NOG RUNX2
5 ossification GO:0001503 9.83 BMP2 COL2A1 RUNX2
6 smoothened signaling pathway GO:0007224 9.8 IHH PTCH1 ROR2
7 BMP signaling pathway GO:0030509 9.8 BMP2 BMPR1B NOG ROR2 RUNX2
8 SMAD protein signal transduction GO:0060395 9.79 BMP2 GDF5 ROR2
9 embryonic limb morphogenesis GO:0030326 9.78 GDF5 HOXD13 PTCH1
10 embryonic digit morphogenesis GO:0042733 9.78 HOXD13 IHH NOG ROR2
11 pattern specification process GO:0007389 9.77 HOXD13 NOG PTCH1
12 dorsal/ventral pattern formation GO:0009953 9.76 BMPR1B NOG PTCH1
13 positive regulation of osteoblast differentiation GO:0045669 9.76 BMP2 BMPR1B GNAS RUNX2
14 negative regulation of osteoblast differentiation GO:0045668 9.75 HDAC4 NOG PTCH1
15 endochondral ossification GO:0001958 9.73 COL2A1 GNAS RUNX2
16 cartilage condensation GO:0001502 9.71 BMPR1B COL2A1 ROR2
17 osteoblast development GO:0002076 9.7 HDAC4 PTHLH RUNX2
18 regulation of protein binding GO:0043393 9.69 HDAC4 PRMT7
19 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.69 BMPR1B GDF5
20 chondrocyte development GO:0002063 9.69 BMPR1B CHSY1 RUNX2
21 male genitalia development GO:0030539 9.68 HOXD13 ROR2
22 tissue homeostasis GO:0001894 9.68 COL2A1 GNAS
23 negative regulation of smoothened signaling pathway GO:0045879 9.68 PTCH1 RUNX2
24 negative regulation of chondrocyte differentiation GO:0032331 9.68 GDF5 PTHLH
25 positive regulation of cartilage development GO:0061036 9.67 BMP2 BMPR1B
26 endocardial cushion morphogenesis GO:0003203 9.67 BMP2 NOG
27 somite development GO:0061053 9.67 IHH NOG PTCH1
28 limb morphogenesis GO:0035108 9.67 BMPR1B COL2A1 HOXD13 PTCH1
29 negative regulation of multicellular organism growth GO:0040015 9.65 GNAS PTCH1
30 hindlimb morphogenesis GO:0035137 9.65 GDF5 PTCH1
31 chondrocyte differentiation GO:0002062 9.65 BMP2 BMPR1B COL2A1 GDF5 RUNX2
32 embryonic skeletal joint morphogenesis GO:0060272 9.64 COL2A1 NOG
33 mesenchymal cell differentiation GO:0048762 9.64 BMP2 NOG
34 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.63 BMP2 RUNX2
35 positive regulation of chondrocyte differentiation GO:0032332 9.62 BMPR1B GDF5 IHH RUNX2
36 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.61 BMP2 RUNX2
37 proteoglycan metabolic process GO:0006029 9.61 BMP2 COL2A1 IHH
38 cellular response to BMP stimulus GO:0071773 9.55 BMP2 BMPR1B COL2A1 NOG RUNX2
39 cartilage development GO:0051216 9.5 BMP2 BMPR1B CHSY1 COL2A1 GDF5 GNAS
40 skeletal system development GO:0001501 9.36 BMP2 BMPR1B COL2A1 GNAS HDAC4 HOXD13
41 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.11 BMP2 BMPR1B HDAC4 HOXD13 IHH NOG
42 positive regulation of transcription, DNA-templated GO:0045893 10.06 BMP2 HDAC4 PTCH1 ROR2 RUNX2
43 negative regulation of cell proliferation GO:0008285 10 BMP2 HDAC4 PTCH1 PTHLH ROR2

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

id Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 8.62 IHH PTCH1

Sources for Brachydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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