MCID: BRC006
MIFTS: 57

Brachydactyly

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

Aliases & Classifications for Brachydactyly

MalaCards integrated aliases for Brachydactyly:

Name: Brachydactyly 12 72 49 28 51 14 69
Brachydactyly Syndrome 28

Classifications:



Summaries for Brachydactyly

NIH Rare Diseases : 49 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, also known as brachydactyly syndrome, is related to brachydactyly, type c and brachydactyly, type e1, and has symptoms including hand polydactyly, toe syndactyly and short toe. An important gene associated with Brachydactyly is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are CREB Pathway and Human Embryonic Stem Cell Pluripotency. 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 : 72 Brachydactyly (Greek βραχύς = \"short\" plus δάκτυλος = \"finger\"), is a medical term which literally... more...

Related Diseases for Brachydactyly

Diseases in the Brachydactyly family:

Brachydactyly, Type A1 Brachydactyly, Type A2
Brachydactyly, Type A3 Brachydactyly, Type A4
Brachydactyly, Type B1 Brachydactyly, Type C
Brachydactyly, Type D Brachydactyly, Type E1
Brachydactyly, Type A1, B Brachydactyly, Type B2
Brachydactyly, Type E2 Brachydactyly, Type A1, C
Brachydactyly, Type A1, D Brachydactyly Type A5
Brachydactyly Type A7 Brachydactyly of Toes

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

(show top 50) (show all 331)
# Related Disease Score Top Affiliating Genes
1 brachydactyly, type c 34.1 BMPR1B GDF5
2 brachydactyly, type e1 34.1 HOXD13 PTHLH
3 brachydactyly, type b1 34.0 NOG ROR2
4 brachydactyly, type a2 33.8 BMP2 BMPR1B GDF5
5 fibular hypoplasia and complex brachydactyly 33.7 BMPR1B GDF5 NOG
6 brachydactyly, type a1 33.5 BMPR1B GDF5 GNAS IHH
7 multiple synostoses syndrome 1 33.2 GDF5 NOG
8 tarsal-carpal coalition syndrome 31.6 NOG ROR2
9 chondrodysplasia, grebe type 31.5 BMPR1B GDF5
10 multiple synostoses syndrome 31.4 BMPR1B GDF5 IHH NOG
11 acrodysostosis 29.4 GNAS PDE3A PTHLH
12 skeletal dysplasias 29.4 COL2A1 PTHLH TRPV4
13 craniosynostosis 29.2 BMP2 NOG RUNX2
14 proximal symphalangism 29.1 BMP2 BMPR1B GDF5 NOG ROR2
15 osteoporosis 27.8 BMP2 COL2A1 NOG PTHLH RUNX2
16 hypertension and brachydactyly syndrome 12.3
17 temtamy preaxial brachydactyly syndrome 12.3
18 brachydactyly-syndactyly syndrome 12.2
19 brachydactyly, type a3 12.2
20 brachydactyly, type d 12.2
21 brachydactyly, preaxial, with hallux varus and thumb abduction 12.2
22 brachydactyly, combined b and e types 12.2
23 sugarman brachydactyly 12.1
24 digital arthropathy-brachydactyly, familial 12.1
25 coloboma of macula with type b brachydactyly 12.1
26 hirschsprung disease with type d brachydactyly 12.1
27 brachydactyly, type a1, c 12.1
28 brachydactyly, type a4 12.1
29 brachydactyly, type b2 12.1
30 brachydactyly type a5 12.1
31 brachydactyly, type e2 12.1
32 brachydactyly elbow wrist dysplasia 12.1
33 brachydactyly, type a1, d 12.1
34 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.1
35 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.1
36 brachydactyly, type a1, b 12.1
37 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 12.1
38 cryptomicrotia-brachydactyly syndrome 12.0
39 long-thumb brachydactyly syndrome 12.0
40 brachydactyly, mononen type 12.0
41 short stature, brachydactyly, intellectual developmental disability, and seizures 12.0
42 brachydactyly anonychia 12.0
43 brachydactyly type a7 12.0
44 brachydactyly absence of distal phalanges 11.9
45 brachydactyly small stature face anomalies 11.9
46 brachydactyly tibial hypoplasia 11.9
47 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 11.9
48 metaphyseal dysplasia maxillary hypoplasia brachydactyly 11.9
49 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 11.8
50 ulnar/fibular ray defect and brachydactyly 11.8

Graphical network of the top 20 diseases related to Brachydactyly:



Diseases related to Brachydactyly

Symptoms & Phenotypes for Brachydactyly

Human phenotypes related to Brachydactyly:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 brachydactyly 31 hallmark (90%) HP:0001156
2 hand polydactyly 31 occasional (7.5%) HP:0001161
3 toe syndactyly 31 occasional (7.5%) HP:0001770
4 short toe 31 hallmark (90%) HP:0001831
5 short stature 31 frequent (33%) HP:0004322
6 finger syndactyly 31 occasional (7.5%) HP:0006101
7 ulnar deviation of finger 31 occasional (7.5%) HP:0009465
8 symphalangism affecting the phalanges of the hand 31 occasional (7.5%) HP:0009773
9 short metacarpal 31 frequent (33%) HP:0010049

MGI Mouse Phenotypes related to Brachydactyly:

43 (show all 17)
# 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 BMP2 BMPR1B CHSY1 COL2A1 GNAS HDAC4
3 cardiovascular system MP:0005385 10.27 RUNX2 TRPV4 PTHLH ROR2 NOG PRMT7
4 mortality/aging MP:0010768 10.25 BMP2 BMPR1B COL2A1 GDF5 GNAS HDAC4
5 limbs/digits/tail MP:0005371 10.23 RUNX2 BMP2 BMPR1B CHSY1 COL2A1 GDF5
6 digestive/alimentary MP:0005381 10.2 BMP2 COL2A1 HOXD13 IHH NOG PTHLH
7 endocrine/exocrine gland MP:0005379 10.18 BMPR1B GNAS HOXD13 IHH NOG PRMT7
8 nervous system MP:0003631 10.15 BMPR1B COL2A1 GNAS HDAC4 IHH NOG
9 embryo MP:0005380 10.14 HOXD13 IHH NOG PRMT7 ROR2 BMP2
10 integument MP:0010771 10.08 GNAS HDAC4 HOXD13 NOG PTHLH RUNX2
11 hearing/vestibular/ear MP:0005377 9.97 BMP2 COL2A1 GNAS NOG ROR2 TRPV4
12 muscle MP:0005369 9.95 GNAS HDAC4 HOXD13 IHH NOG RUNX2
13 reproductive system MP:0005389 9.91 BMP2 BMPR1B GDF5 HOXD13 NOG PDE3A
14 renal/urinary system MP:0005367 9.87 COL2A1 GNAS HOXD13 NOG PTHLH TRPS1
15 skeleton MP:0005390 9.83 BMP2 BMPR1B CHSY1 COL2A1 GDF5 GNAS
16 respiratory system MP:0005388 9.81 COL2A1 GNAS IHH NOG PTHLH ROR2
17 vision/eye MP:0005391 9.32 HOXD13 IHH NOG PTHLH ROR2 RUNX2

Drugs & Therapeutics for Brachydactyly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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:

# Genetic test Affiliating Genes
1 Brachydactyly Syndrome 28
2 Brachydactyly 28

Anatomical Context for Brachydactyly

MalaCards organs/tissues related to Brachydactyly:

38
Bone, Heart, Thyroid, Myeloid, Testes

Publications for Brachydactyly

Articles related to Brachydactyly:

(show top 50) (show all 342)
# Title Authors Year
1
Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III. ( 29436063 )
2018
2
Pseudopseudohypoparathyroidism: A Diagnostic Consideration in a Patient with Brachydactyly. ( 29429567 )
2018
3
A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2). ( 29129813 )
2018
4
Familial digital arthropathy-brachydactyly, familial: An infrequent cause of joint deformity in the adolescents. ( 28755822 )
2017
5
Symmetrical brachydactyly in a dog. ( 28636057 )
2017
6
Severe Form of Brachydactyly Type A1 in a Child with a c.298Ga88>a88A Mutation in IHH Gene. ( 28794911 )
2017
7
The p.R56* mutation in PTHLH causes variable brachydactyly type E. ( 28211986 )
2017
8
Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic. ( 28385908 )
2017
9
Brachydactyly type E in an Italian family with 6p25 trisomy. ( 28111183 )
2017
10
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. ( 26733284 )
2016
11
A PDE3A mutation in familial hypertension and brachydactyly syndrome. ( 27053290 )
2016
12
EP10.22: Look at the fetal hands: case of brachydactyly. ( 27645172 )
2016
13
Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels. ( 26855372 )
2016
14
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. ( 27718516 )
2016
15
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
16
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. ( 26640227 )
2016
17
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. ( 27115209 )
2016
18
Anonychia with absent phalanges and brachydactyly: A report of two unrelated cases. ( 27320764 )
2016
19
Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. ( 27723096 )
2016
20
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1. ( 25932455 )
2015
21
PDE3A mutations cause autosomal dominant hypertension with brachydactyly. ( 25961942 )
2015
22
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? ( 25994865 )
2015
23
RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. ( 26333564 )
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
Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. ( 25801215 )
2015
26
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C. ( 25820810 )
2015
27
Mutation screening in candidate genes in four Chinese brachydactyly families. ( 25696018 )
2015
28
Hypotrichosis, milia, brachydactyly, and frenula. ( 26177262 )
2015
29
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. ( 25758993 )
2015
30
Concomitance of types D and E brachydactyly: a case report. ( 26698251 )
2015
31
Clinical Effects of Phosphodiesterase 3A Mutations in Inherited Hypertension With Brachydactyly. ( 26283042 )
2015
32
Novel mutation in the BMPR1B gene (R486L) in a polish family and further delineation of the phenotypic features of BMPR1B-Related brachydactyly. ( 25776145 )
2015
33
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly in a Finnish Woman: First Confirmation of a Duplication in RUNX2 as Pathogenic Variant. ( 25311905 )
2014
34
Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). ( 24710560 )
2014
35
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. ( 25402011 )
2014
36
Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature. ( 25400355 )
2014
37
Gradual development of brachydactyly in pseudohypoparathyroidism. ( 24684469 )
2014
38
Leukaemia cutis as the initial manifestation in a child with brachydactyly in chronic phase of chronic myeloid leukaemia. ( 25158808 )
2014
39
A new mutation in the gene ROR2 causes brachydactyly type B1. ( 24954533 )
2014
40
A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. ( 24269551 )
2014
41
Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. ( 24715855 )
2014
42
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C. ( 25092592 )
2014
43
Brachydactyly and atrial septal defect: when the digits point to the heart. ( 25456580 )
2014
44
Brachydactyly E: isolated or as a feature of a syndrome. ( 24028571 )
2013
45
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. ( 23483675 )
2013
46
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. ( 23188045 )
2013
47
Absence of nasal bone and brachydactyly: a probable new familial syndrome. ( 23810940 )
2013
48
Embryology of familial (non-syndromic) brachydactyly of the hand. ( 24300509 )
2013
49
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. ( 23290074 )
2013
50
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. ( 23073310 )
2013

Variations for Brachydactyly

ClinVar genetic disease variations for Brachydactyly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPS1 NM_014112.4(TRPS1): c.2794G> A (p.Ala932Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1057518972 GRCh37 Chromosome 8, 116430587: 116430587
2 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

GO Terms for Brachydactyly

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

# 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 39)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.98 BMP2 NOG RUNX2 TRPV4
2 cell-cell signaling GO:0007267 9.94 BMP2 GDF5 IHH PTHLH
3 osteoblast differentiation GO:0001649 9.87 BMP2 IHH NOG RUNX2
4 ossification GO:0001503 9.85 BMP2 COL2A1 IHH RUNX2
5 response to mechanical stimulus GO:0009612 9.79 GDF5 IHH TRPV4
6 SMAD protein signal transduction GO:0060395 9.78 BMP2 GDF5 ROR2
7 pattern specification process GO:0007389 9.76 HOXD13 IHH NOG
8 embryonic digit morphogenesis GO:0042733 9.76 HOXD13 IHH NOG ROR2
9 endochondral ossification GO:0001958 9.75 COL2A1 GNAS RUNX2
10 limb morphogenesis GO:0035108 9.73 BMPR1B COL2A1 HOXD13
11 BMP signaling pathway GO:0030509 9.72 BMP2 BMPR1B NOG ROR2 RUNX2
12 cartilage condensation GO:0001502 9.71 BMPR1B COL2A1 ROR2
13 positive regulation of osteoblast differentiation GO:0045669 9.71 BMP2 BMPR1B GNAS RUNX2
14 positive regulation of chondrocyte differentiation GO:0032332 9.7 BMPR1B GDF5 RUNX2
15 regulation of protein binding GO:0043393 9.67 HDAC4 PRMT7
16 male genitalia development GO:0030539 9.67 HOXD13 ROR2
17 tissue homeostasis GO:0001894 9.67 COL2A1 GNAS
18 osteoblast development GO:0002076 9.67 HDAC4 PTHLH RUNX2
19 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.66 BMPR1B GDF5
20 negative regulation of chondrocyte differentiation GO:0032331 9.66 GDF5 PTHLH
21 positive regulation of cartilage development GO:0061036 9.65 BMP2 BMPR1B
22 somite development GO:0061053 9.65 IHH NOG
23 endocardial cushion morphogenesis GO:0003203 9.65 BMP2 NOG
24 chondrocyte development GO:0002063 9.65 BMPR1B CHSY1 RUNX2
25 chondrocyte differentiation GO:0002062 9.65 BMP2 BMPR1B COL2A1 GDF5 RUNX2
26 embryonic skeletal joint morphogenesis GO:0060272 9.64 COL2A1 NOG
27 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.63 BMP2 RUNX2
28 regulation of chondrocyte differentiation GO:0032330 9.63 PTHLH TRPS1
29 positive regulation of vascular permeability GO:0043117 9.62 PDE3A TRPV4
30 mesenchymal cell differentiation GO:0048762 9.62 BMP2 NOG
31 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.6 COL2A1 TRPV4
32 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.59 BMP2 RUNX2
33 cartilage development GO:0051216 9.56 BMP2 BMPR1B CHSY1 COL2A1 GDF5 GNAS
34 cellular response to BMP stimulus GO:0071773 9.55 BMP2 BMPR1B COL2A1 NOG RUNX2
35 proteoglycan metabolic process GO:0006029 9.54 BMP2 COL2A1 IHH
36 skeletal system development GO:0001501 9.4 BMP2 BMPR1B COL2A1 GNAS HDAC4 HOXD13
37 positive regulation of transcription by RNA polymerase II GO:0045944 10.11 BMP2 BMPR1B HDAC4 HOXD13 IHH NOG
38 negative regulation of transcription by RNA polymerase II GO:0000122 10.08 BMP2 HDAC4 NOG TRPS1 TRPV4
39 cell differentiation GO:0030154 10.03 BMP2 BMPR1B IHH NOG PRMT7 ROR2

Sources for Brachydactyly

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