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 76 53 37 29 55 6 15 40 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0050581
KEGG 37 H00482
UMLS 73 C0221357

Summaries for Brachydactyly

NIH Rare Diseases : 53 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 c and fibular hypoplasia and complex brachydactyly. 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 : 76 Brachydactyly (Greek βρα�?ύ�? = "short" plus δάκ�?�?λο�? = "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

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

(show top 50) (show all 324)
# Related Disease Score Top Affiliating Genes
1 brachydactyly, type c 34.1 BMPR1B GDF5 NOG ROR2
2 fibular hypoplasia and complex brachydactyly 34.0 BMPR1B GDF5 NOG
3 brachydactyly, type a2 34.0 BMP2 BMPR1B GDF5 IHH NOG ROR2
4 brachydactyly, type e1 33.9 HOXD13 PTCH1 PTHLH
5 brachydactyly, type b2 33.8 GDF5 NOG ROR2
6 brachydactyly, type a1 33.8 BMPR1B GDF5 IHH PTCH1 ROR2
7 brachydactyly, type b1 33.8 IHH NOG PTCH1 ROR2
8 pseudopseudohypoparathyroidism 31.9 GNAS HDAC4
9 multiple synostoses syndrome 31.8 BMPR1B GDF5 NOG
10 tarsal-carpal coalition syndrome 31.7 NOG ROR2
11 chondrodysplasia, grebe type 31.5 BMPR1B GDF5
12 proximal symphalangism 30.0 BMPR1B GDF5 NOG ROR2
13 osteoporosis 29.6 BMP2 COL2A1 NOG PTHLH RUNX2
14 hypertension and brachydactyly syndrome 12.5
15 temtamy preaxial brachydactyly syndrome 12.4
16 brachydactyly-syndactyly syndrome 12.4
17 brachydactyly, type d 12.4
18 brachydactyly, type e2 12.4
19 brachydactyly, type a3 12.4
20 digital arthropathy-brachydactyly, familial 12.3
21 brachydactyly, combined b and e types 12.3
22 brachydactyly, preaxial, with hallux varus and thumb abduction 12.3
23 sugarman brachydactyly 12.3
24 brachydactyly, type a1, c 12.3
25 coloboma of macula with type b brachydactyly 12.3
26 brachydactyly, type a4 12.3
27 hirschsprung disease with type d brachydactyly 12.3
28 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.3
29 brachydactyly, type a1, d 12.3
30 brachydactyly, type a1, b 12.2
31 brachydactyly elbow wrist dysplasia 12.2
32 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 12.2
33 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 12.2
34 cryptomicrotia-brachydactyly syndrome 12.2
35 long-thumb brachydactyly syndrome 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 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 12.1
41 metaphyseal dysplasia maxillary hypoplasia brachydactyly 12.1
42 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.0
43 ulnar/fibular ray defect and brachydactyly 12.0
44 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 12.0
45 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.0
46 brachydactyly anonychia 12.0
47 chromosome 2q37 deletion syndrome 12.0
48 brachydactyly, coloboma, and anterior segment dysgenesis 12.0
49 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.9
50 liebenberg syndrome 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:

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.45 BMP2 BMPR1B COL2A1 COMP GDF5 GNAS
2 craniofacial MP:0005382 10.4 BMP2 BMPR1B CHSY1 COL2A1 GNAS HDAC4
3 cardiovascular system MP:0005385 10.38 BMP2 COL2A1 COMP GNAS IHH NOG
4 cellular MP:0005384 10.33 BMP2 BMPR1B COL2A1 COMP GNAS IHH
5 limbs/digits/tail MP:0005371 10.32 BMP2 BMPR1B CHSY1 COL2A1 COMP GDF5
6 homeostasis/metabolism MP:0005376 10.3 BMP2 COL2A1 COMP GNAS NOG PRMT7
7 mortality/aging MP:0010768 10.3 BMP2 BMPR1B COL2A1 GDF5 GNAS HDAC4
8 digestive/alimentary MP:0005381 10.27 BMP2 COL2A1 HOXD13 IHH NOG PTCH1
9 endocrine/exocrine gland MP:0005379 10.26 BMPR1B GNAS HOXD13 IHH NOG PRMT7
10 embryo MP:0005380 10.22 BMP2 BMPR1B COL2A1 HOXD13 IHH NOG
11 nervous system MP:0003631 10.22 BMP2 BMPR1B COL2A1 GNAS HDAC4 IHH
12 immune system MP:0005387 10.21 BMP2 CHSY1 COL2A1 COMP GNAS PRMT7
13 integument MP:0010771 10.15 GNAS HDAC4 HOXD13 NOG PTCH1 PTHLH
14 muscle MP:0005369 10.09 COMP GNAS HDAC4 HOXD13 IHH NOG
15 hearing/vestibular/ear MP:0005377 10.08 BMP2 COL2A1 GNAS NOG PTCH1 ROR2
16 normal MP:0002873 10.02 BMP2 BMPR1B COL2A1 COMP GNAS NOG
17 reproductive system MP:0005389 9.96 BMP2 BMPR1B GDF5 HOXD13 NOG PDE3A
18 renal/urinary system MP:0005367 9.92 COL2A1 GNAS HOXD13 NOG PTCH1 PTHLH
19 skeleton MP:0005390 9.89 BMP2 BMPR1B CHSY1 COL2A1 COMP GDF5
20 respiratory system MP:0005388 9.85 COL2A1 GNAS IHH NOG PTCH1 PTHLH
21 vision/eye MP:0005391 9.36 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 29

Anatomical Context for Brachydactyly

MalaCards organs/tissues related to Brachydactyly:

41
Bone, Heart, Thyroid, Testes, Myeloid

Publications for Brachydactyly

Articles related to Brachydactyly:

(show top 50) (show all 355)
# Title Authors Year
1
Homozygous <i>CHST11</i> mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly. ( 29514872 )
2018
2
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature. ( 29464738 )
2018
3
A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication. ( 29891876 )
2018
4
Familial Brachydactyly with Variable Expression in Three Family Members. ( 29948736 )
2018
5
Pseudopseudohypoparathyroidism: A Diagnostic Consideration in a Patient with Brachydactyly. ( 29429567 )
2018
6
A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2). ( 29129813 )
2018
7
Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III. ( 29436063 )
2018
8
Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism. ( 29947179 )
2018
9
Moebius Syndrome with Hypoglossal Palsy, Syndactyly, Brachydactyly, and Anisometropic Amblyopia. ( 29774172 )
2018
10
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. ( 30063090 )
2018
11
Brachydactyly mental retardation syndrome with growth hormone deficiency. ( 30087780 )
2018
12
PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome). ( 30209282 )
2018
13
Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood. ( 30357083 )
2018
14
The p.R56* mutation in PTHLH causes variable brachydactyly type E. ( 28211986 )
2017
15
Familial digital arthropathy-brachydactyly, familial: An infrequent cause of joint deformity in the adolescents. ( 28755822 )
2017
16
Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic. ( 28385908 )
2017
17
Symmetrical brachydactyly in a dog. ( 28636057 )
2017
18
Brachydactyly type E in an Italian family with 6p25 trisomy. ( 28111183 )
2017
19
Severe Form of Brachydactyly Type A1 in a Child with a c.298Ga88&amp;gt;a88A Mutation in IHH Gene. ( 28794911 )
2017
20
Anonychia with absent phalanges and brachydactyly: A report of two unrelated cases. ( 27320764 )
2016
21
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. ( 26733284 )
2016
22
A PDE3A mutation in familial hypertension and brachydactyly syndrome. ( 27053290 )
2016
23
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. ( 27115209 )
2016
24
EP10.22: Look at the fetal hands: case of brachydactyly. ( 27645172 )
2016
25
Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. ( 27723096 )
2016
26
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. ( 26640227 )
2016
27
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
28
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. ( 27718516 )
2016
29
Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels. ( 26855372 )
2016
30
Hypotrichosis, milia, brachydactyly, and frenula. ( 26177262 )
2015
31
Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. ( 25801215 )
2015
32
Concomitance of types D and E brachydactyly: a case report. ( 26698251 )
2015
33
Novel mutation in the BMPR1B gene (R486L) in a polish family and further delineation of the phenotypic features of BMPR1B-Related brachydactyly. ( 25776145 )
2015
34
PDE3A mutations cause autosomal dominant hypertension with brachydactyly. ( 25961942 )
2015
35
Mutation screening in candidate genes in four Chinese brachydactyly families. ( 25696018 )
2015
36
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? ( 25994865 )
2015
37
Clinical Effects of Phosphodiesterase 3A Mutations in Inherited Hypertension With Brachydactyly. ( 26283042 )
2015
38
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
39
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1. ( 25932455 )
2015
40
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. ( 25758993 )
2015
41
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C. ( 25820810 )
2015
42
RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. ( 26333564 )
2015
43
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C. ( 25092592 )
2014
44
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly in a Finnish Woman: First Confirmation of a Duplication in RUNX2 as Pathogenic Variant. ( 25311905 )
2014
45
Gradual development of brachydactyly in pseudohypoparathyroidism. ( 24684469 )
2014
46
A new mutation in the gene ROR2 causes brachydactyly type B1. ( 24954533 )
2014
47
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. ( 25402011 )
2014
48
Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature. ( 25400355 )
2014
49
Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. ( 24715855 )
2014
50
A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. ( 24269551 )
2014

Variations for Brachydactyly

ClinVar genetic disease variations for Brachydactyly:

6 (show top 50) (show all 419)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF5 NM_000557.4(GDF5): c.-275T> C single nucleotide variant Benign rs143383 GRCh37 Chromosome 20, 34025983: 34025983
2 GDF5 NM_000557.4(GDF5): c.-275T> C single nucleotide variant Benign rs143383 GRCh38 Chromosome 20, 35438203: 35438203
3 ROR2 NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41277835 GRCh37 Chromosome 9, 94485971: 94485971
4 ROR2 NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41277835 GRCh38 Chromosome 9, 91723689: 91723689
5 ROR2 NM_004560.3(ROR2): c.2455G> A (p.Val819Ile) single nucleotide variant Benign rs10761129 GRCh37 Chromosome 9, 94486321: 94486321
6 ROR2 NM_004560.3(ROR2): c.2455G> A (p.Val819Ile) single nucleotide variant Benign rs10761129 GRCh38 Chromosome 9, 91724039: 91724039
7 ROR2 NM_004560.3(ROR2): c.2285C> T (p.Ser762Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34491822 GRCh37 Chromosome 9, 94486491: 94486491
8 ROR2 NM_004560.3(ROR2): c.2285C> T (p.Ser762Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34491822 GRCh38 Chromosome 9, 91724209: 91724209
9 ROR2 NM_004560.3(ROR2): c.2154C> T (p.Pro718=) single nucleotide variant Benign rs2230577 GRCh37 Chromosome 9, 94486622: 94486622
10 ROR2 NM_004560.3(ROR2): c.2154C> T (p.Pro718=) single nucleotide variant Benign rs2230577 GRCh38 Chromosome 9, 91724340: 91724340
11 ROR2 NM_004560.3(ROR2): c.2088C> T (p.Tyr696=) single nucleotide variant Benign rs10992063 GRCh37 Chromosome 9, 94486688: 94486688
12 ROR2 NM_004560.3(ROR2): c.2088C> T (p.Tyr696=) single nucleotide variant Benign rs10992063 GRCh38 Chromosome 9, 91724406: 91724406
13 ROR2 NM_004560.3(ROR2): c.2083G> A (p.Gly695Arg) single nucleotide variant Benign rs34431454 GRCh37 Chromosome 9, 94486693: 94486693
14 ROR2 NM_004560.3(ROR2): c.2083G> A (p.Gly695Arg) single nucleotide variant Benign rs34431454 GRCh38 Chromosome 9, 91724411: 91724411
15 ROR2 NM_004560.3(ROR2): c.1959G> A (p.Leu653=) single nucleotide variant Conflicting interpretations of pathogenicity rs144549032 GRCh37 Chromosome 9, 94486817: 94486817
16 ROR2 NM_004560.3(ROR2): c.1959G> A (p.Leu653=) single nucleotide variant Conflicting interpretations of pathogenicity rs144549032 GRCh38 Chromosome 9, 91724535: 91724535
17 ROR2 NM_004560.3(ROR2): c.1710G> A (p.Pro570=) single nucleotide variant Benign/Likely benign rs41277837 GRCh37 Chromosome 9, 94487066: 94487066
18 ROR2 NM_004560.3(ROR2): c.1710G> A (p.Pro570=) single nucleotide variant Benign/Likely benign rs41277837 GRCh38 Chromosome 9, 91724784: 91724784
19 ROR2 NM_004560.3(ROR2): c.1045C> G (p.His349Asp) single nucleotide variant Benign rs55983376 GRCh37 Chromosome 9, 94493330: 94493330
20 ROR2 NM_004560.3(ROR2): c.1045C> G (p.His349Asp) single nucleotide variant Benign rs55983376 GRCh38 Chromosome 9, 91731048: 91731048
21 ROR2 NM_004560.3(ROR2): c.986G> A (p.Ser329Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371221714 GRCh37 Chromosome 9, 94493389: 94493389
22 ROR2 NM_004560.3(ROR2): c.986G> A (p.Ser329Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371221714 GRCh38 Chromosome 9, 91731107: 91731107
23 ROR2 NM_004560.3(ROR2): c.733A> G (p.Thr245Ala) single nucleotide variant Benign rs10820900 GRCh37 Chromosome 9, 94495608: 94495608
24 ROR2 NM_004560.3(ROR2): c.733A> G (p.Thr245Ala) single nucleotide variant Benign rs10820900 GRCh38 Chromosome 9, 91733326: 91733326
25 ROR2 NM_004560.3(ROR2): c.498T> C (p.Asp166=) single nucleotide variant Benign rs16907720 GRCh37 Chromosome 9, 94499797: 94499797
26 ROR2 NM_004560.3(ROR2): c.498T> C (p.Asp166=) single nucleotide variant Benign rs16907720 GRCh38 Chromosome 9, 91737515: 91737515
27 ROR2 NM_004560.3(ROR2): c.98-15G> C single nucleotide variant Benign rs7863557 GRCh37 Chromosome 9, 94538115: 94538115
28 ROR2 NM_004560.3(ROR2): c.98-15G> C single nucleotide variant Benign rs7863557 GRCh38 Chromosome 9, 91775833: 91775833
29 ROR2 NM_004560.3(ROR2): c.75G> A (p.Leu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs148237260 GRCh37 Chromosome 9, 94712171: 94712171
30 ROR2 NM_004560.3(ROR2): c.75G> A (p.Leu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs148237260 GRCh38 Chromosome 9, 91949889: 91949889
31 ROR2 NM_004560.3(ROR2): c.7C> T (p.Arg3Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs539329891 GRCh37 Chromosome 9, 94712239: 94712239
32 ROR2 NM_004560.3(ROR2): c.7C> T (p.Arg3Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs539329891 GRCh38 Chromosome 9, 91949957: 91949957
33 ROR2 NM_004560.3(ROR2): c.372C> T (p.Asp124=) single nucleotide variant Likely benign rs145568368 GRCh37 Chromosome 9, 94519645: 94519645
34 ROR2 NM_004560.3(ROR2): c.372C> T (p.Asp124=) single nucleotide variant Likely benign rs145568368 GRCh38 Chromosome 9, 91757363: 91757363
35 ROR2 NM_004560.3(ROR2): c.937+10C> T single nucleotide variant Benign/Likely benign rs201083970 GRCh37 Chromosome 9, 94495394: 94495394
36 ROR2 NM_004560.3(ROR2): c.937+10C> T single nucleotide variant Benign/Likely benign rs201083970 GRCh38 Chromosome 9, 91733112: 91733112
37 ROR2 NM_004560.3(ROR2): c.2395C> T (p.Pro799Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141235720 GRCh37 Chromosome 9, 94486381: 94486381
38 ROR2 NM_004560.3(ROR2): c.2395C> T (p.Pro799Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141235720 GRCh38 Chromosome 9, 91724099: 91724099
39 ROR2 NM_004560.3(ROR2): c.*16G> A single nucleotide variant Benign rs2230578 GRCh37 Chromosome 9, 94485928: 94485928
40 ROR2 NM_004560.3(ROR2): c.*16G> A single nucleotide variant Benign rs2230578 GRCh38 Chromosome 9, 91723646: 91723646
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 GDF5 NM_000557.4(GDF5): c.1017A= (p.Lys339=) single nucleotide variant Benign rs224330 GRCh38 Chromosome 20, 35434398: 35434398
44 GDF5 NM_000557.4(GDF5): c.1017A= (p.Lys339=) single nucleotide variant Benign rs224330 GRCh37 Chromosome 20, 34022196: 34022196
45 GDF5 NM_000557.4(GDF5): c.826G= (p.Ala276=) single nucleotide variant Benign rs224331 GRCh38 Chromosome 20, 35434589: 35434589
46 GDF5 NM_000557.4(GDF5): c.826G= (p.Ala276=) single nucleotide variant Benign rs224331 GRCh37 Chromosome 20, 34022387: 34022387
47 GDF5 NM_000557.4(GDF5): c.-48C= single nucleotide variant Benign rs143384 GRCh38 Chromosome 20, 35437976: 35437976
48 GDF5 NM_000557.4(GDF5): c.-48C= single nucleotide variant Benign rs143384 GRCh37 Chromosome 20, 34025756: 34025756
49 IHH NM_002181.3(IHH): c.315+8C> T single nucleotide variant Benign/Likely benign rs186249490 GRCh37 Chromosome 2, 219924867: 219924867
50 IHH NM_002181.3(IHH): c.315+8C> T single nucleotide variant Benign/Likely benign rs186249490 GRCh38 Chromosome 2, 219060145: 219060145

Expression for Brachydactyly

Search GEO for disease gene expression data for Brachydactyly.

Pathways for Brachydactyly

Pathways related to Brachydactyly according to KEGG:

37
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340
2 TGF-beta signaling pathway hsa04350

Pathways related to Brachydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 BMP2 BMPR1B GNAS NOG
2
Show member pathways
12.07 GNAS IHH PTCH1 PTHLH
3 11.66 GNAS PTHLH RUNX2
4 11.48 BMP2 BMPR1B GDF5 NOG
5
Show member pathways
11.31 BMP2 BMPR1B NOG RUNX2
6
Show member pathways
10.97 IHH PTCH1 PTHLH
7 10.94 GNAS IHH PTCH1 PTHLH RUNX2
8 10.91 COL2A1 HDAC4 IHH PTCH1 PTHLH RUNX2
9 10.8 BMP2 COL2A1
10 10.71 BMP2 COL2A1 GDF5 GNAS ROR2

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 9.28 BMP2 CHSY1 COL2A1 COMP GDF5 GNAS

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

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.99 GNAS HDAC4 PDE3A PTCH1
2 cell-cell signaling GO:0007267 9.96 BMP2 GDF5 IHH PTHLH
3 in utero embryonic development GO:0001701 9.94 BMP2 IHH NOG PTCH1
4 animal organ morphogenesis GO:0009887 9.88 BMP2 COMP PTCH1
5 osteoblast differentiation GO:0001649 9.88 BMP2 IHH NOG RUNX2
6 ossification GO:0001503 9.87 BMP2 COL2A1 IHH RUNX2
7 smoothened signaling pathway GO:0007224 9.83 IHH PTCH1 ROR2
8 SMAD protein signal transduction GO:0060395 9.81 BMP2 GDF5 ROR2
9 embryonic limb morphogenesis GO:0030326 9.8 GDF5 HOXD13 PTCH1
10 response to mechanical stimulus GO:0009612 9.8 GDF5 IHH PTCH1 TRPV4
11 negative regulation of osteoblast differentiation GO:0045668 9.79 HDAC4 NOG PTCH1
12 positive regulation of osteoblast differentiation GO:0045669 9.78 BMP2 BMPR1B GNAS RUNX2
13 dorsal/ventral pattern formation GO:0009953 9.77 BMPR1B NOG PTCH1
14 bone mineralization GO:0030282 9.77 BMP2 PTHLH ROR2
15 pattern specification process GO:0007389 9.77 BMPR1B HOXD13 IHH NOG PTCH1
16 embryonic digit morphogenesis GO:0042733 9.76 HOXD13 IHH NOG ROR2
17 endochondral ossification GO:0001958 9.75 COL2A1 GNAS RUNX2
18 positive regulation of chondrocyte differentiation GO:0032332 9.73 BMPR1B GDF5 RUNX2
19 cartilage condensation GO:0001502 9.72 BMPR1B COL2A1 ROR2
20 chondrocyte differentiation GO:0002062 9.72 BMP2 BMPR1B COL2A1 GDF5 RUNX2
21 tissue homeostasis GO:0001894 9.71 COL2A1 GNAS
22 osteoblast development GO:0002076 9.71 HDAC4 PTHLH RUNX2
23 limb morphogenesis GO:0035108 9.71 BMPR1B COL2A1 HOXD13 PTCH1
24 male genitalia development GO:0030539 9.7 HOXD13 ROR2
25 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.7 BMPR1B GDF5
26 chondrocyte development GO:0002063 9.7 BMPR1B CHSY1 RUNX2
27 negative regulation of chondrocyte differentiation GO:0032331 9.69 GDF5 PTHLH
28 endocardial cushion morphogenesis GO:0003203 9.69 BMP2 NOG
29 somite development GO:0061053 9.69 IHH NOG PTCH1
30 positive regulation of cartilage development GO:0061036 9.68 BMP2 BMPR1B
31 prostate gland development GO:0030850 9.68 HOXD13 PTCH1
32 negative regulation of multicellular organism growth GO:0040015 9.68 GNAS PTCH1
33 hindlimb morphogenesis GO:0035137 9.68 GDF5 PTCH1
34 embryonic skeletal joint morphogenesis GO:0060272 9.67 COL2A1 NOG
35 mesenchymal cell differentiation GO:0048762 9.67 BMP2 NOG
36 positive regulation of vascular permeability GO:0043117 9.67 PDE3A TRPV4
37 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.65 BMP2 RUNX2
38 cellular response to BMP stimulus GO:0071773 9.65 BMP2 BMPR1B COL2A1 NOG RUNX2
39 BMP signaling pathway GO:0030509 9.63 BMP2 BMPR1B GDF5 NOG ROR2 RUNX2
40 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.62 COL2A1 TRPV4
41 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.62 BMP2 RUNX2
42 proteoglycan metabolic process GO:0006029 9.61 BMP2 COL2A1 IHH
43 cartilage development GO:0051216 9.56 BMP2 BMPR1B CHSY1 COL2A1 GDF5 GNAS
44 skeletal system development GO:0001501 9.44 BMP2 BMPR1B COL2A1 COMP GNAS HDAC4
45 positive regulation of transcription by RNA polymerase II GO:0045944 10.18 BMP2 BMPR1B HDAC4 HOXD13 IHH NOG
46 cell differentiation GO:0030154 10.15 BMP2 BMPR1B IHH NOG PRMT7 ROR2
47 negative regulation of transcription by RNA polymerase II GO:0000122 10.14 BMP2 HDAC4 NOG PTCH1 TRPS1 TRPV4
48 positive regulation of transcription, DNA-templated GO:0045893 10.09 BMP2 HDAC4 PTCH1 ROR2 RUNX2
49 negative regulation of cell proliferation GO:0008285 10.04 BMP2 HDAC4 PTCH1 PTHLH ROR2

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

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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