MCID: BRC006
MIFTS: 50

Brachydactyly

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

Aliases & Classifications for Brachydactyly

MalaCards integrated aliases for Brachydactyly:

Name: Brachydactyly 12 77 54 38 30 56 6 15 41 74

Classifications:



External Ids:

Disease Ontology 12 DOID:0050581
KEGG 38 H00482
UMLS 74 C0221357

Summaries for Brachydactyly

NIH Rare Diseases : 54 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.

MalaCards based summary : Brachydactyly is related to brachydactyly, type a1 and brachydactyly, type b1. An important gene associated with Brachydactyly is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Hedgehog signaling pathway and TGF-beta signaling pathway. 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 : 77 Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means... 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

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

(show top 50) (show all 315)
# Related Disease Score Top Affiliating Genes
1 brachydactyly, type a1 34.5 BMPR1B GDF5 IHH ROR2
2 brachydactyly, type b1 34.5 IHH NOG ROR2
3 brachydactyly, type c 34.5 BMPR1B GDF5 NOG ROR2
4 brachydactyly, type a2 34.4 BMP2 BMPR1B GDF5 IHH NOG ROR2
5 fibular hypoplasia and complex brachydactyly 34.3 BMPR1B GDF5 NOG
6 brachydactyly, type b2 34.2 GDF5 NOG ROR2
7 multiple synostoses syndrome 32.2 BMPR1B GDF5 NOG
8 pseudopseudohypoparathyroidism 32.1 GNAS HDAC4
9 tarsal-carpal coalition syndrome 32.0 NOG ROR2
10 chondrodysplasia, grebe type 31.8 BMPR1B GDF5
11 proximal symphalangism 30.4 BMPR1B GDF5 NOG ROR2
12 brachydactyly, type e1 12.6
13 hypertension and brachydactyly syndrome 12.5
14 brachydactyly-syndactyly syndrome 12.5
15 temtamy preaxial brachydactyly syndrome 12.5
16 brachydactyly, type d 12.4
17 brachydactyly, type e2 12.4
18 brachydactyly, type a3 12.4
19 digital arthropathy-brachydactyly, familial 12.4
20 brachydactyly, combined b and e types 12.4
21 brachydactyly, preaxial, with hallux varus and thumb abduction 12.3
22 sugarman brachydactyly 12.3
23 brachydactyly, type a1, c 12.3
24 coloboma of macula with type b brachydactyly 12.3
25 brachydactyly, type a4 12.3
26 hirschsprung disease with type d brachydactyly 12.3
27 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.3
28 brachydactyly, type a1, d 12.3
29 brachydactyly, type a1, b 12.3
30 brachydactyly elbow wrist dysplasia 12.3
31 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 12.2
32 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 12.2
33 cryptomicrotia-brachydactyly syndrome 12.2
34 long-thumb brachydactyly syndrome 12.2
35 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 12.2
36 brachydactyly, mononen type 12.2
37 short stature, brachydactyly, intellectual developmental disability, and seizures 12.2
38 brachydactyly type a7 12.2
39 brachydactyly type a5 12.1
40 metaphyseal dysplasia maxillary hypoplasia brachydactyly 12.1
41 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.1
42 ulnar/fibular ray defect and brachydactyly 12.1
43 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 12.0
44 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.0
45 brachydactyly anonychia 12.0
46 chromosome 2q37 deletion syndrome 12.0
47 brachydactyly, coloboma, and anterior segment dysgenesis 12.0
48 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 12.0
49 liebenberg syndrome 11.9
50 brachydactyly-nystagmus-cerebellar ataxia 11.9

Graphical network of the top 20 diseases related to Brachydactyly:



Diseases related to Brachydactyly

Symptoms & Phenotypes for Brachydactyly

MGI Mouse Phenotypes related to Brachydactyly:

47 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.44 BMP2 BMPR1B COL2A1 GDF5 GNAS HDAC4
2 craniofacial MP:0005382 10.35 BMP2 BMPR1B CHSY1 COL2A1 GNAS HDAC4
3 mortality/aging MP:0010768 10.33 BMP2 BMPR1B COL2A1 GDF5 GNAS HDAC4
4 homeostasis/metabolism MP:0005376 10.29 BMP2 COL2A1 GNAS MEFV NOG PPP2R1A
5 cardiovascular system MP:0005385 10.28 BMP2 COL2A1 GNAS IHH NOG PRMT7
6 limbs/digits/tail MP:0005371 10.26 BMP2 BMPR1B CHSY1 COL2A1 GDF5 GNAS
7 digestive/alimentary MP:0005381 10.22 BMP2 COL2A1 HOXD13 IHH NOG PTHLH
8 endocrine/exocrine gland MP:0005379 10.2 BMPR1B GNAS HOXD13 IHH NOG PRMT7
9 nervous system MP:0003631 10.18 BMP2 BMPR1B COL2A1 GNAS HDAC4 IHH
10 embryo MP:0005380 10.16 BMP2 BMPR1B COL2A1 HOXD13 IHH NOG
11 integument MP:0010771 10.15 GNAS HDAC4 HOXD13 MEFV NOG PTHLH
12 normal MP:0002873 10.02 BMP2 BMPR1B COL2A1 GNAS MEFV NOG
13 hearing/vestibular/ear MP:0005377 10 BMP2 COL2A1 GNAS NOG ROR2 TRPV4
14 muscle MP:0005369 9.98 GNAS HDAC4 HOXD13 IHH NOG RUNX2
15 reproductive system MP:0005389 9.96 BMP2 BMPR1B GDF5 HOXD13 MEFV NOG
16 renal/urinary system MP:0005367 9.87 COL2A1 GNAS HOXD13 NOG PTHLH TRPS1
17 skeleton MP:0005390 9.86 BMP2 BMPR1B CHSY1 COL2A1 GDF5 GNAS
18 respiratory system MP:0005388 9.81 COL2A1 GNAS IHH NOG PTHLH ROR2
19 vision/eye MP:0005391 9.32 BMPR1B CHSY1 COL2A1 HOXD13 IHH NOG

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 30

Anatomical Context for Brachydactyly

MalaCards organs/tissues related to Brachydactyly:

42
Bone, Heart, Thyroid, Testes, Myeloid

Publications for Brachydactyly

Articles related to Brachydactyly:

(show top 50) (show all 359)
# Title Authors Year
1
p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation. ( 30651074 )
2019
2
KBG syndrome presenting with brachydactyly type E. ( 30877071 )
2019
3
Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain. ( 30914275 )
2019
4
Homozygous <i>CHST11</i> mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly. ( 29514872 )
2018
5
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature. ( 29464738 )
2018
6
A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication. ( 29891876 )
2018
7
Familial Brachydactyly with Variable Expression in Three Family Members. ( 29948736 )
2018
8
Pseudopseudohypoparathyroidism: A Diagnostic Consideration in a Patient with Brachydactyly. ( 29429567 )
2018
9
A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2). ( 29129813 )
2018
10
Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III. ( 29436063 )
2018
11
Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism. ( 29947179 )
2018
12
Moebius Syndrome with Hypoglossal Palsy, Syndactyly, Brachydactyly, and Anisometropic Amblyopia. ( 29774172 )
2018
13
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. ( 30063090 )
2018
14
Brachydactyly mental retardation syndrome with growth hormone deficiency. ( 30087780 )
2018
15
PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome). ( 30209282 )
2018
16
Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood. ( 30357083 )
2018
17
Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1. ( 30574312 )
2018
18
The p.R56* mutation in PTHLH causes variable brachydactyly type E. ( 28211986 )
2017
19
Familial digital arthropathy-brachydactyly, familial: An infrequent cause of joint deformity in the adolescents. ( 28755822 )
2017
20
Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic. ( 28385908 )
2017
21
Symmetrical brachydactyly in a dog. ( 28636057 )
2017
22
Brachydactyly type E in an Italian family with 6p25 trisomy. ( 28111183 )
2017
23
Severe Form of Brachydactyly Type A1 in a Child with a c.298Ga88&amp;gt;a88A Mutation in IHH Gene. ( 28794911 )
2017
24
Anonychia with absent phalanges and brachydactyly: A report of two unrelated cases. ( 27320764 )
2016
25
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. ( 26733284 )
2016
26
A PDE3A mutation in familial hypertension and brachydactyly syndrome. ( 27053290 )
2016
27
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. ( 27115209 )
2016
28
EP10.22: Look at the fetal hands: case of brachydactyly. ( 27645172 )
2016
29
Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. ( 27723096 )
2016
30
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. ( 26640227 )
2016
31
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
32
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. ( 27718516 )
2016
33
Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels. ( 26855372 )
2016
34
Hypotrichosis, milia, brachydactyly, and frenula. ( 26177262 )
2015
35
Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. ( 25801215 )
2015
36
Concomitance of types D and E brachydactyly: a case report. ( 26698251 )
2015
37
Novel mutation in the BMPR1B gene (R486L) in a polish family and further delineation of the phenotypic features of BMPR1B-Related brachydactyly. ( 25776145 )
2015
38
PDE3A mutations cause autosomal dominant hypertension with brachydactyly. ( 25961942 )
2015
39
Mutation screening in candidate genes in four Chinese brachydactyly families. ( 25696018 )
2015
40
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? ( 25994865 )
2015
41
Clinical Effects of Phosphodiesterase 3A Mutations in Inherited Hypertension With Brachydactyly. ( 26283042 )
2015
42
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
43
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1. ( 25932455 )
2015
44
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. ( 25758993 )
2015
45
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C. ( 25820810 )
2015
46
RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. ( 26333564 )
2015
47
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C. ( 25092592 )
2014
48
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly in a Finnish Woman: First Confirmation of a Duplication in RUNX2 as Pathogenic Variant. ( 25311905 )
2014
49
Gradual development of brachydactyly in pseudohypoparathyroidism. ( 24684469 )
2014
50
A new mutation in the gene ROR2 causes brachydactyly type B1. ( 24954533 )
2014

Variations for Brachydactyly

ClinVar genetic disease variations for Brachydactyly:

6 (show top 50) (show all 425)
# Gene Variation Type Significance SNP ID Assembly Location
1 ROR2 NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41277835 GRCh37 Chromosome 9, 94485971: 94485971
2 ROR2 NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41277835 GRCh38 Chromosome 9, 91723689: 91723689
3 ROR2 NM_004560.3(ROR2): c.2455G> A (p.Val819Ile) single nucleotide variant Benign rs10761129 GRCh37 Chromosome 9, 94486321: 94486321
4 ROR2 NM_004560.3(ROR2): c.2455G> A (p.Val819Ile) single nucleotide variant Benign rs10761129 GRCh38 Chromosome 9, 91724039: 91724039
5 ROR2 NM_004560.3(ROR2): c.2285C> T (p.Ser762Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34491822 GRCh37 Chromosome 9, 94486491: 94486491
6 ROR2 NM_004560.3(ROR2): c.2285C> T (p.Ser762Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34491822 GRCh38 Chromosome 9, 91724209: 91724209
7 ROR2 NM_004560.3(ROR2): c.2154C> T (p.Pro718=) single nucleotide variant Benign rs2230577 GRCh37 Chromosome 9, 94486622: 94486622
8 ROR2 NM_004560.3(ROR2): c.2154C> T (p.Pro718=) single nucleotide variant Benign rs2230577 GRCh38 Chromosome 9, 91724340: 91724340
9 ROR2 NM_004560.3(ROR2): c.2088C> T (p.Tyr696=) single nucleotide variant Benign rs10992063 GRCh37 Chromosome 9, 94486688: 94486688
10 ROR2 NM_004560.3(ROR2): c.2088C> T (p.Tyr696=) single nucleotide variant Benign rs10992063 GRCh38 Chromosome 9, 91724406: 91724406
11 ROR2 NM_004560.3(ROR2): c.2083G> A (p.Gly695Arg) single nucleotide variant Benign rs34431454 GRCh37 Chromosome 9, 94486693: 94486693
12 ROR2 NM_004560.3(ROR2): c.2083G> A (p.Gly695Arg) single nucleotide variant Benign rs34431454 GRCh38 Chromosome 9, 91724411: 91724411
13 ROR2 NM_004560.3(ROR2): c.1959G> A (p.Leu653=) single nucleotide variant Conflicting interpretations of pathogenicity rs144549032 GRCh37 Chromosome 9, 94486817: 94486817
14 ROR2 NM_004560.3(ROR2): c.1959G> A (p.Leu653=) single nucleotide variant Conflicting interpretations of pathogenicity rs144549032 GRCh38 Chromosome 9, 91724535: 91724535
15 ROR2 NM_004560.3(ROR2): c.1710G> A (p.Pro570=) single nucleotide variant Benign/Likely benign rs41277837 GRCh37 Chromosome 9, 94487066: 94487066
16 ROR2 NM_004560.3(ROR2): c.1710G> A (p.Pro570=) single nucleotide variant Benign/Likely benign rs41277837 GRCh38 Chromosome 9, 91724784: 91724784
17 ROR2 NM_004560.3(ROR2): c.1045C> G (p.His349Asp) single nucleotide variant Benign rs55983376 GRCh37 Chromosome 9, 94493330: 94493330
18 ROR2 NM_004560.3(ROR2): c.1045C> G (p.His349Asp) single nucleotide variant Benign rs55983376 GRCh38 Chromosome 9, 91731048: 91731048
19 ROR2 NM_004560.3(ROR2): c.986G> A (p.Ser329Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371221714 GRCh37 Chromosome 9, 94493389: 94493389
20 ROR2 NM_004560.3(ROR2): c.986G> A (p.Ser329Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371221714 GRCh38 Chromosome 9, 91731107: 91731107
21 ROR2 NM_004560.3(ROR2): c.733A> G (p.Thr245Ala) single nucleotide variant Benign rs10820900 GRCh37 Chromosome 9, 94495608: 94495608
22 ROR2 NM_004560.3(ROR2): c.733A> G (p.Thr245Ala) single nucleotide variant Benign rs10820900 GRCh38 Chromosome 9, 91733326: 91733326
23 ROR2 NM_004560.3(ROR2): c.498T> C (p.Asp166=) single nucleotide variant Benign rs16907720 GRCh37 Chromosome 9, 94499797: 94499797
24 ROR2 NM_004560.3(ROR2): c.498T> C (p.Asp166=) single nucleotide variant Benign rs16907720 GRCh38 Chromosome 9, 91737515: 91737515
25 ROR2 NM_004560.3(ROR2): c.98-15G> C single nucleotide variant Benign rs7863557 GRCh37 Chromosome 9, 94538115: 94538115
26 ROR2 NM_004560.3(ROR2): c.98-15G> C single nucleotide variant Benign rs7863557 GRCh38 Chromosome 9, 91775833: 91775833
27 ROR2 NM_004560.3(ROR2): c.75G> A (p.Leu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs148237260 GRCh37 Chromosome 9, 94712171: 94712171
28 ROR2 NM_004560.3(ROR2): c.75G> A (p.Leu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs148237260 GRCh38 Chromosome 9, 91949889: 91949889
29 ROR2 NM_004560.3(ROR2): c.7C> T (p.Arg3Trp) single nucleotide variant Likely benign rs539329891 GRCh37 Chromosome 9, 94712239: 94712239
30 ROR2 NM_004560.3(ROR2): c.7C> T (p.Arg3Trp) single nucleotide variant Likely benign rs539329891 GRCh38 Chromosome 9, 91949957: 91949957
31 ROR2 NM_004560.3(ROR2): c.372C> T (p.Asp124=) single nucleotide variant Likely benign rs145568368 GRCh37 Chromosome 9, 94519645: 94519645
32 ROR2 NM_004560.3(ROR2): c.372C> T (p.Asp124=) single nucleotide variant Likely benign rs145568368 GRCh38 Chromosome 9, 91757363: 91757363
33 ROR2 NM_004560.3(ROR2): c.937+10C> T single nucleotide variant Benign/Likely benign rs201083970 GRCh37 Chromosome 9, 94495394: 94495394
34 ROR2 NM_004560.3(ROR2): c.937+10C> T single nucleotide variant Benign/Likely benign rs201083970 GRCh38 Chromosome 9, 91733112: 91733112
35 ROR2 NM_004560.3(ROR2): c.2395C> T (p.Pro799Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141235720 GRCh37 Chromosome 9, 94486381: 94486381
36 ROR2 NM_004560.3(ROR2): c.2395C> T (p.Pro799Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141235720 GRCh38 Chromosome 9, 91724099: 91724099
37 ROR2 NM_004560.3(ROR2): c.*16G> A single nucleotide variant Benign rs2230578 GRCh37 Chromosome 9, 94485928: 94485928
38 ROR2 NM_004560.3(ROR2): c.*16G> A single nucleotide variant Benign rs2230578 GRCh38 Chromosome 9, 91723646: 91723646
39 PPP2R1A NM_014225.5(PPP2R1A): c.773G> A (p.Arg258His) single nucleotide variant Pathogenic rs863225094 GRCh37 Chromosome 19, 52716329: 52716329
40 PPP2R1A NM_014225.5(PPP2R1A): c.773G> A (p.Arg258His) single nucleotide variant Pathogenic rs863225094 GRCh38 Chromosome 19, 52213076: 52213076
41 BMPR1B NM_001203.2(BMPR1B): c.418G> A (p.Val140Ile) single nucleotide variant Benign/Likely benign rs138801821 GRCh37 Chromosome 4, 96045029: 96045029
42 BMPR1B NM_001203.2(BMPR1B): c.418G> A (p.Val140Ile) single nucleotide variant Benign/Likely benign rs138801821 GRCh38 Chromosome 4, 95123878: 95123878
43 MEFV NM_000243.2(MEFV): c.2080A> G (p.Met694Val) single nucleotide variant Pathogenic/Likely pathogenic rs61752717 GRCh37 Chromosome 16, 3293407: 3293407
44 MEFV NM_000243.2(MEFV): c.2080A> G (p.Met694Val) single nucleotide variant Pathogenic/Likely pathogenic rs61752717 GRCh38 Chromosome 16, 3243407: 3243407
45 GDF5 NM_000557.4(GDF5): c.-275T> C single nucleotide variant Benign rs143383 GRCh37 Chromosome 20, 34025983: 34025983
46 GDF5 NM_000557.4(GDF5): c.-275T> C single nucleotide variant Benign rs143383 GRCh38 Chromosome 20, 35438203: 35438203
47 GDF5 NM_000557.4(GDF5): c.1017A= (p.Lys339=) single nucleotide variant Benign rs224330 GRCh38 Chromosome 20, 35434398: 35434398
48 GDF5 NM_000557.4(GDF5): c.1017A= (p.Lys339=) single nucleotide variant Benign rs224330 GRCh37 Chromosome 20, 34022196: 34022196
49 GDF5 NM_000557.4(GDF5): c.826G= (p.Ala276=) single nucleotide variant Benign rs224331 GRCh38 Chromosome 20, 35434589: 35434589
50 GDF5 NM_000557.4(GDF5): c.826G= (p.Ala276=) single nucleotide variant Benign rs224331 GRCh37 Chromosome 20, 34022387: 34022387

Expression for Brachydactyly

Search GEO for disease gene expression data for Brachydactyly.

Pathways for Brachydactyly

Pathways related to Brachydactyly according to KEGG:

38
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340
2 TGF-beta signaling pathway hsa04350

GO Terms for Brachydactyly

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.93 BMP2 GDF5 IHH PTHLH
2 osteoblast differentiation GO:0001649 9.87 BMP2 IHH NOG RUNX2
3 ossification GO:0001503 9.84 BMP2 COL2A1 IHH RUNX2
4 response to mechanical stimulus GO:0009612 9.8 GDF5 IHH TRPV4
5 SMAD protein signal transduction GO:0060395 9.78 BMP2 GDF5 ROR2
6 pattern specification process GO:0007389 9.76 BMPR1B HOXD13 IHH NOG
7 bone mineralization GO:0030282 9.75 BMP2 PTHLH ROR2
8 endochondral ossification GO:0001958 9.73 COL2A1 GNAS RUNX2
9 positive regulation of osteoblast differentiation GO:0045669 9.73 BMP2 BMPR1B GNAS RUNX2
10 limb morphogenesis GO:0035108 9.72 BMPR1B COL2A1 HOXD13
11 chondrocyte differentiation GO:0002062 9.72 BMP2 BMPR1B COL2A1 GDF5 RUNX2
12 embryonic digit morphogenesis GO:0042733 9.71 HOXD13 IHH NOG ROR2
13 positive regulation of chondrocyte differentiation GO:0032332 9.7 BMPR1B GDF5 RUNX2
14 cartilage condensation GO:0001502 9.69 BMPR1B COL2A1 ROR2
15 tissue homeostasis GO:0001894 9.67 COL2A1 GNAS
16 male genitalia development GO:0030539 9.67 HOXD13 ROR2
17 osteoblast development GO:0002076 9.67 HDAC4 PTHLH RUNX2
18 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.66 BMPR1B GDF5
19 negative regulation of chondrocyte differentiation GO:0032331 9.66 GDF5 PTHLH
20 endocardial cushion morphogenesis GO:0003203 9.65 BMP2 NOG
21 positive regulation of cartilage development GO:0061036 9.65 BMP2 BMPR1B
22 somite development GO:0061053 9.65 IHH NOG
23 chondrocyte development GO:0002063 9.65 BMPR1B CHSY1 RUNX2
24 cellular response to BMP stimulus GO:0071773 9.65 BMP2 BMPR1B COL2A1 NOG RUNX2
25 embryonic skeletal joint morphogenesis GO:0060272 9.64 COL2A1 NOG
26 mesenchymal cell differentiation GO:0048762 9.64 BMP2 NOG
27 positive regulation of vascular permeability GO:0043117 9.63 PDE3A TRPV4
28 BMP signaling pathway GO:0030509 9.63 BMP2 BMPR1B GDF5 NOG ROR2 RUNX2
29 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.62 BMP2 RUNX2
30 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.6 COL2A1 TRPV4
31 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.59 BMP2 RUNX2
32 cartilage development GO:0051216 9.56 BMP2 BMPR1B CHSY1 COL2A1 GDF5 GNAS
33 proteoglycan metabolic process GO:0006029 9.54 BMP2 COL2A1 IHH
34 skeletal system development GO:0001501 9.4 BMP2 BMPR1B COL2A1 GNAS HDAC4 HOXD13
35 positive regulation of transcription by RNA polymerase II GO:0045944 10.16 BMP2 BMPR1B HDAC4 HOXD13 IHH NOG
36 cell differentiation GO:0030154 10.13 BMP2 BMPR1B IHH NOG PRMT7 ROR2

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.4 BMPR1B CHSY1 COL2A1 GNAS HDAC4 IHH

Sources for Brachydactyly

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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63 PubMed
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70 SNOMED-CT via HPO
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73 Tocris
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75 UMLS via Orphanet
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