MCID: BRC006
MIFTS: 51

Brachydactyly

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Brachydactyly

Summaries for Brachydactyly

Disease Ontology: 11 A dysostosis characterized by short fingers and toes.

MalaCards based summary: Brachydactyly is related to hypertension and brachydactyly syndrome and brachydactyly, type a2. An important gene associated with Brachydactyly is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Signal Transduction and Endochondral ossification. Affiliated tissues include heart, bone and nk cells, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia: 75 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 590)
# Related Disease Score Top Affiliating Genes
1 hypertension and brachydactyly syndrome 33.4 TRPS1 PTHLH HOXD13 GNAS
2 brachydactyly, type a2 33.4 RUNX2 IHH GDF5 BMP2
3 brachydactyly, type a1 33.4 PTHLH IHH HOXD13 GDF5 BMP2
4 brachydactyly, type c 33.3 ROR2 HOXD13 GDF5 COL2A1
5 brachydactyly, type b1 33.3 ROR2 IHH GDF5
6 brachydactyly, type e1 33.3 PTHLH HOXD13
7 brachydactyly, type a4 33.1 IHH HOXD13 GDF5
8 sugarman brachydactyly 33.0 IHH HOXD13 GDF5
9 brachydactyly, type a1, c 33.0 IHH GDF5
10 brachydactyly, type a1, d 33.0 IHH GDF5
11 brachydactyly, type b2 33.0 ROR2 GDF5
12 chromosome 2q37 deletion syndrome 32.9 HOXD13 HDAC4 GNAS
13 pseudohypoparathyroidism, type ia 32.4 PTHLH HDAC4 GNAS
14 cleidocranial dysplasia 1 32.3 RUNX2 PTHLH IHH COL2A1 BMP2
15 trichorhinophalangeal syndrome, type iii 32.2 TRPS1 GDF5
16 acrocapitofemoral dysplasia 32.1 IHH GDF5
17 acrodysostosis 32.0 PTHLH HOXD13 HDAC4 GNAS
18 pseudopseudohypoparathyroidism 31.9 PTHLH GNAS
19 eiken syndrome 31.8 PTHLH GNAS
20 acromesomelic dysplasia 2a 31.8 GDF5 COL2A1
21 osteochondrodysplasia 31.2 TRPS1 RUNX2 PTHLH PRMT7 IHH GNAS
22 chromosome 2q35 duplication syndrome 31.1 TULP1 NIPBL IQCE IHH HOXD13 GDF5
23 exostosis 31.0 RUNX2 PTHLH IHH GDF5 COL2A1 BMP2
24 pseudohypoparathyroidism 31.0 TRPS1 PTHLH GNAS
25 dysostosis 31.0 RUNX2 IHH HOXD13 GDF5
26 craniosynostosis 30.9 TRPS1 RUNX2 IHH GNAS COL2A1 BMP2
27 metaphyseal dysplasia 30.8 RUNX2 PTHLH COL2A1
28 synostosis 30.8 RUNX2 IHH HOXD13 GDF5 BMP2
29 osteoarthritis 30.8 RUNX2 GDF5 COL2A1 BMP2
30 proximal symphalangism 30.8 ROR2 GDF5 BMP2
31 spondyloepiphyseal dysplasia with congenital joint dislocations 30.7 IHH COL2A1 CHSY1
32 bone disease 30.6 RUNX2 PTHLH GDF5 COL2A1 BMP2
33 brittle bone disorder 30.6 RUNX2 PTHLH IHH COL2A1 BMP2
34 osteochondrosis 30.6 IHH COL2A1 BMP2
35 cartilage disease 30.4 RUNX2 IHH GDF5 COL2A1 BMP2
36 osteoporosis 30.3 RUNX2 PTHLH HDAC4 GNAS COL2A1 BMP2
37 osteonecrosis 30.3 RUNX2 COL2A1 BMP2
38 isolated growth hormone deficiency, type ia 30.2 RTTN PTHLH COL2A1
39 syndactyly, type v 30.2 PTHLH HOXD13
40 temtamy preaxial brachydactyly syndrome 11.6
41 liebenberg syndrome 11.6
42 brachydactyly, type d 11.6
43 brachydactyly, combined b and e types 11.6
44 brachydactyly-syndactyly syndrome 11.6
45 brachydactyly, type a3 11.5
46 acromesomelic dysplasia 2b 11.5
47 brachydactyly type a7 11.5
48 brachydactyly, preaxial, with hallux varus and thumb abduction 11.5
49 osebold-remondini syndrome 11.5
50 long-thumb brachydactyly syndrome 11.5

Graphical network of the top 20 diseases related to Brachydactyly:



Diseases related to Brachydactyly

Symptoms & Phenotypes for Brachydactyly

MGI Mouse Phenotypes related to Brachydactyly:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.46 BMP2 CHSY1 COL2A1 GDF5 GNAS HDAC4
2 homeostasis/metabolism MP:0005376 10.38 BMP2 COL2A1 GNAS HDAC4 IQCE MEFV
3 nervous system MP:0003631 10.37 BMP2 CHSY1 COL2A1 GNAS HDAC4 IHH
4 limbs/digits/tail MP:0005371 10.33 BMP2 CHSY1 COL2A1 GDF5 GNAS HOXD13
5 cellular MP:0005384 10.25 BMP2 CHSY1 COL2A1 GNAS IHH MEFV
6 craniofacial MP:0005382 10.2 BMP2 CHSY1 COL2A1 GNAS HDAC4 IHH
7 embryo MP:0005380 10.19 BMP2 COL2A1 GDF5 GNAS HOXD13 IHH
8 skeleton MP:0005390 10.19 BMP2 CHSY1 COL2A1 GDF5 GNAS HDAC4
9 digestive/alimentary MP:0005381 10.18 BMP2 COL2A1 GNAS HOXD13 IHH PTHLH
10 immune system MP:0005387 10.18 BMP2 CHSY1 COL2A1 GNAS HDAC4 IQCE
11 cardiovascular system MP:0005385 10.14 BMP2 COL2A1 GNAS IHH NIPBL PRMT7
12 hearing/vestibular/ear MP:0005377 10 BMP2 COL2A1 GNAS NIPBL ROR2 TULP1
13 vision/eye MP:0005391 9.93 CHSY1 COL2A1 GNAS HOXD13 IHH IQCE
14 mortality/aging MP:0010768 9.89 BMP2 CHSY1 COL2A1 GDF5 GNAS HDAC4
15 respiratory system MP:0005388 9.87 COL2A1 GNAS IHH PTHLH ROR2 RUNX2
16 integument MP:0010771 9.28 CHSY1 GNAS HOXD13 MEFV PRMT7 PTHLH

Drugs & Therapeutics for Brachydactyly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Brachydactyly

Cochrane evidence based reviews: brachydactyly

Genetic Tests for Brachydactyly

Genetic tests related to Brachydactyly:

# Genetic test Affiliating Genes
1 Brachydactyly 28

Anatomical Context for Brachydactyly

Organs/tissues related to Brachydactyly:

MalaCards : Heart, Bone, Nk Cells, Spinal Cord, Skin, Thyroid, Cerebellum

Publications for Brachydactyly

Articles related to Brachydactyly:

(show top 50) (show all 1268)
# Title Authors PMID Year
1
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 62 5
30723319 2019
2
Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin. 53 62
20033473 2010
3
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. 53 62
19640924 2009
4
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved? 53 62
19236432 2009
5
The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src. 53 62
18365018 2008
6
Successful treatment with infliximab of refractory rheumatoid arthritis in a male with 'GDF5 brachydactyly'. 53 62
17602228 2007
7
A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. 53 62
17632781 2007
8
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. 53 62
17236141 2007
9
GDF5 is a second locus for multiple-synostosis syndrome. 53 62
16532400 2006
10
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. 53 62
15952209 2005
11
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). 53 62
15809997 2005
12
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. 53 62
15643621 2005
13
The pathophysiology of HOX genes and their role in cancer. 53 62
15643670 2005
14
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. 53 62
15070926 2004
15
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. 53 62
12970262 2003
16
ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome. 53 62
12919145 2003
17
Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation. 53 62
12719376 2003
18
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. 53 62
12620993 2003
19
Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. 53 62
12548386 2003
20
Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule. 53 62
12205109 2002
21
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. 53 62
11850178 2002
22
A case of a Japanese patient with cleidocranial dysplasia possessing a mutation of CBFA1 gene. 53 62
11886988 2002
23
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 53 62
11112658 2001
24
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 53 62
10861678 2000
25
Quantitative trait loci for blood pressure exist near the IGF-1, the Liddle syndrome, the angiotensin II-receptor gene and the renin loci in man. 53 62
10446938 1999
26
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. 53 62
9600744 1998
27
Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation. 53 62
9600732 1998
28
Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings. 53 62
8024616 1994
29
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. 53 62
2109828 1990
30
Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report. 62
35776137 2023
31
Velopharyngeal Characteristics in Aarskog-Scott Syndrome: A Case Report. 62
36475306 2022
32
Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage. 62
36259389 2022
33
Aesthetic correction of short nail deformity in congenital brachydactyly Type D by distraction lengthening. 62
35722929 2022
34
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. 62
36399134 2022
35
Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment. 62
36348013 2022
36
A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia. 62
36097642 2022
37
Bardet-Biedl Syndrome: A Rare Case From Ophthalmology Perspective. 62
36348931 2022
38
ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities. 62
36208065 2022
39
Hypertension and brachydactyly syndrome: a further case report. 62
35762486 2022
40
WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy. 62
35875935 2022
41
Intrafamilial variability in six family members with ERF-related craniosynostosis syndrome type 4. 62
35852485 2022
42
A novel variant in the ROR2 gene underlying brachydactyly type B: a case report. 62
36064339 2022
43
The molecular genetics of human appendicular skeleton. 62
35907958 2022
44
Frameshift Mutation in a Chinese Patient with Brachydactyly Type C Involving the Third Metacarpal: A Case Report. 62
35819086 2022
45
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia. 62
35748595 2022
46
Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report. 62
35871092 2022
47
Novel FGF9 variant contributes to multiple synostoses syndrome 3. 62
35316564 2022
48
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome. 62
35879281 2022
49
Genetics, Clinical Presentation, Radiological Features, and Midterm Outcome of Closing Wedge Osteotomy in Children With Brachydactyly Type C. 62
35502951 2022
50
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2. 62
35419902 2022

Variations for Brachydactyly

ClinVar genetic disease variations for Brachydactyly:

5 (show top 50) (show all 181)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPP2R1A NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His) SNV Pathogenic
217458 rs863225094 GRCh37: 19:52716329-52716329
GRCh38: 19:52213076-52213076
2 MEFV NM_000243.3(MEFV):c.2080A>G (p.Met694Val) SNV Pathogenic
2538 rs61752717 GRCh37: 16:3293407-3293407
GRCh38: 16:3243407-3243407
3 SCAPER NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer) DEL Pathogenic
548448 rs1567499068 GRCh37: 15:76866531-76866531
GRCh38: 15:76574190-76574190
4 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) SNV Pathogenic
523435 rs1014959895 GRCh37: 16:68363008-68363008
GRCh38: 16:68329105-68329105
5 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) SNV Pathogenic
523434 rs1251713297 GRCh37: 16:68389688-68389688
GRCh38: 16:68355785-68355785
6 GNAS NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) SNV Pathogenic
374113 rs1057518907 GRCh37: 20:57466866-57466866
GRCh38: 20:58891811-58891811
7 TULP1 NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) SNV Pathogenic
30261 rs387906836 GRCh37: 6:35471540-35471540
GRCh38: 6:35503763-35503763
8 IQCE NM_152558.5(IQCE):c.895_904del (p.Val301fs) DEL Pathogenic
638149 rs773701437 GRCh37: 7:2625907-2625916
GRCh38: 7:2586273-2586282
9 overlap with 22 genes GRCh37/hg19 17p11.2(chr17:16936603-18184130) CN LOSS Pathogenic
523258 GRCh37: 17:16936603-18184130
GRCh38:
10 TRPS1 NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr) SNV Likely Pathogenic
374202 rs1057518972 GRCh37: 8:116430587-116430587
GRCh38: 8:115418359-115418359
11 NIPBL NM_133433.4(NIPBL):c.6242G>C (p.Gly2081Ala) SNV Likely Pathogenic
374158 rs587784000 GRCh37: 5:37044582-37044582
GRCh38: 5:37044480-37044480
12 RTTN NM_173630.4(RTTN):c.4375-3963_4564+444del DEL Likely Pathogenic
1684632 GRCh37: 18:67742144-67746740
GRCh38: 18:70074908-70079504
13 CHST11 NM_018413.6(CHST11):c.482_496del (p.Leu161_Asn165del) DEL Uncertain Significance
559505 rs1566067709 GRCh37: 12:105151000-105151014
GRCh38: 12:104757222-104757236
14 BMPR1B NM_001203.3(BMPR1B):c.482T>G (p.Ile161Ser) SNV Uncertain Significance
907601 rs766140919 GRCh37: 4:96046169-96046169
GRCh38: 4:95125018-95125018
15 BMPR1B NM_001203.3(BMPR1B):c.490G>A (p.Glu164Lys) SNV Uncertain Significance
907602 rs754565613 GRCh37: 4:96046177-96046177
GRCh38: 4:95125026-95125026
16 BMPR1B NM_001203.3(BMPR1B):c.*221C>T SNV Uncertain Significance
907674 rs779144644 GRCh37: 4:96076045-96076045
GRCh38: 4:95154894-95154894
17 BMPR1B NM_001203.3(BMPR1B):c.*283G>A SNV Uncertain Significance
907675 rs1352644567 GRCh37: 4:96076107-96076107
GRCh38: 4:95154956-95154956
18 BMPR1B NM_001203.3(BMPR1B):c.*524C>T SNV Uncertain Significance
907676 rs770792059 GRCh37: 4:96076348-96076348
GRCh38: 4:95155197-95155197
19 BMPR1B NM_001203.3(BMPR1B):c.*1800G>A SNV Uncertain Significance
907734 rs962993386 GRCh37: 4:96077624-96077624
GRCh38: 4:95156473-95156473
20 BMPR1B NM_001203.3(BMPR1B):c.*1831A>G SNV Uncertain Significance
907735 rs938267264 GRCh37: 4:96077655-96077655
GRCh38: 4:95156504-95156504
21 BMPR1B NM_001203.3(BMPR1B):c.*1661A>G SNV Uncertain Significance
906726 rs1296755497 GRCh37: 4:96077485-96077485
GRCh38: 4:95156334-95156334
22 BMPR1B NM_001203.3(BMPR1B):c.*1792C>T SNV Uncertain Significance
906727 rs888310660 GRCh37: 4:96077616-96077616
GRCh38: 4:95156465-95156465
23 BMPR1B NM_001203.3(BMPR1B):c.233A>G (p.Asp78Gly) SNV Uncertain Significance
907599 rs1731897620 GRCh37: 4:96035960-96035960
GRCh38: 4:95114809-95114809
24 BMPR1B NM_001203.3(BMPR1B):c.*3318A>G SNV Uncertain Significance
907788 rs972072375 GRCh37: 4:96079142-96079142
GRCh38: 4:95157991-95157991
25 BMPR1B NM_001203.3(BMPR1B):c.*3527G>A SNV Uncertain Significance
907790 rs1342443031 GRCh37: 4:96079351-96079351
GRCh38: 4:95158200-95158200
26 BMPR1B NM_001203.3(BMPR1B):c.*3677A>G SNV Uncertain Significance
907791 rs1343033075 GRCh37: 4:96079501-96079501
GRCh38: 4:95158350-95158350
27 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.1374C>G (p.Pro458=) SNV Uncertain Significance
896867 rs776415223 GRCh37: 20:34021839-34021839
GRCh38: 20:35434041-35434041
28 GDF5 NM_000557.5(GDF5):c.506C>A (p.Pro169His) SNV Uncertain Significance
895610 rs2062477372 GRCh37: 20:34025203-34025203
GRCh38: 20:35437423-35437423
29 GDF5 NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) SNV Uncertain Significance
897084 rs1601074882 GRCh37: 20:34025527-34025527
GRCh38: 20:35437747-35437747
30 GDF5 NM_000557.5(GDF5):c.483G>A (p.Pro161=) SNV Uncertain Significance
897014 rs752789551 GRCh37: 20:34025226-34025226
GRCh38: 20:35437446-35437446
31 GDF5 NM_000557.5(GDF5):c.57G>T (p.Leu19=) SNV Uncertain Significance
897561 rs746980493 GRCh37: 20:34025652-34025652
GRCh38: 20:35437872-35437872
32 GDF5 NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) SNV Uncertain Significance
595155 rs373973964 GRCh37: 20:34025684-34025684
GRCh38: 20:35437904-35437904
33 LOC109461476, GDF5 NM_000557.5(GDF5):c.-236G>A SNV Uncertain Significance
898778 rs1190526111 GRCh37: 20:34025944-34025944
GRCh38: 20:35438164-35438164
34 BMPR1B NM_001203.3(BMPR1B):c.581T>C (p.Leu194Pro) SNV Uncertain Significance
904270 rs767925715 GRCh37: 4:96046268-96046268
GRCh38: 4:95125117-95125117
35 BMPR1B NM_001203.3(BMPR1B):c.790G>A (p.Ala264Thr) SNV Uncertain Significance
904271 rs767750336 GRCh37: 4:96052377-96052377
GRCh38: 4:95131226-95131226
36 BMPR1B NM_001203.3(BMPR1B):c.*744C>T SNV Uncertain Significance
904343 rs943089166 GRCh37: 4:96076568-96076568
GRCh38: 4:95155417-95155417
37 BMPR1B NM_001203.3(BMPR1B):c.*828T>G SNV Uncertain Significance
904344 rs868257514 GRCh37: 4:96076652-96076652
GRCh38: 4:95155501-95155501
38 BMPR1B NM_001203.3(BMPR1B):c.*834T>A SNV Uncertain Significance
904345 rs962807006 GRCh37: 4:96076658-96076658
GRCh38: 4:95155507-95155507
39 BMPR1B NM_001203.3(BMPR1B):c.*2225A>C SNV Uncertain Significance
904406 rs1292377172 GRCh37: 4:96078049-96078049
GRCh38: 4:95156898-95156898
40 BMPR1B NM_001203.3(BMPR1B):c.*2228A>G SNV Uncertain Significance
904407 rs773682819 GRCh37: 4:96078052-96078052
GRCh38: 4:95156901-95156901
41 BMPR1B NM_001203.3(BMPR1B):c.-287C>G SNV Uncertain Significance
904995 rs1019586523 GRCh37: 4:95679115-95679115
GRCh38: 4:94757964-94757964
42 BMPR1B NM_001203.3(BMPR1B):c.-198G>C SNV Uncertain Significance
904996 rs1721592459 GRCh37: 4:95679204-95679204
GRCh38: 4:94758053-94758053
43 BMPR1B NM_001203.3(BMPR1B):c.-182G>A SNV Uncertain Significance
904997 rs143230133 GRCh37: 4:95796982-95796982
GRCh38: 4:94875831-94875831
44 BMPR1B NM_001203.3(BMPR1B):c.-167A>G SNV Uncertain Significance
904998 rs1331789489 GRCh37: 4:95796997-95796997
GRCh38: 4:94875846-94875846
45 BMPR1B NM_001203.3(BMPR1B):c.*83C>G SNV Uncertain Significance
905063 rs563289256 GRCh37: 4:96075907-96075907
GRCh38: 4:95154756-95154756
46 BMPR1B NM_001203.3(BMPR1B):c.*1065T>A SNV Uncertain Significance
905142 rs1038526436 GRCh37: 4:96076889-96076889
GRCh38: 4:95155738-95155738
47 BMPR1B NM_001203.3(BMPR1B):c.*2302G>A SNV Uncertain Significance
350165 rs765599516 GRCh37: 4:96078126-96078126
GRCh38: 4:95156975-95156975
48 GDF5 NM_000557.5(GDF5):c.226G>T (p.Ala76Ser) SNV Uncertain Significance
895672 rs768978933 GRCh37: 20:34025483-34025483
GRCh38: 20:35437703-35437703
49 BMPR1B NM_001203.3(BMPR1B):c.*2307C>T SNV Uncertain Significance
905205 rs569546552 GRCh37: 4:96078131-96078131
GRCh38: 4:95156980-95156980
50 LOC109461476, GDF5 NM_000557.5(GDF5):c.-97T>C SNV Uncertain Significance
895743 rs960967052 GRCh37: 20:34025805-34025805
GRCh38: 20:35438025-35438025

Expression for Brachydactyly

Search GEO for disease gene expression data for Brachydactyly.

Pathways for Brachydactyly



Pathways directly related to Brachydactyly:

# Pathway Source
1 Defective CHSY1 causes TPBS Reactome 66

GO Terms for Brachydactyly

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 10.07 RUNX2 PTHLH NIPBL MEFV IHH COL2A1
2 osteoblast differentiation GO:0001649 10.04 RUNX2 IHH HDAC4 BMP2
3 bone mineralization GO:0030282 10 ROR2 PTHLH BMP2
4 bone development GO:0060348 9.96 GNAS COL2A1 BMP2
5 SMAD protein signal transduction GO:0060395 9.95 RUNX2 GDF5 BMP2
6 cellular response to BMP stimulus GO:0071773 9.95 RUNX2 COL2A1 BMP2
7 negative regulation of chondrocyte differentiation GO:0032331 9.91 PTHLH IHH GDF5
8 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.87 RUNX2 BMP2
9 ossification GO:0001503 9.85 RUNX2 IHH COL2A1 BMP2
10 forelimb morphogenesis GO:0035136 9.84 NIPBL GDF5
11 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.81 BMP2 RUNX2
12 proteoglycan metabolic process GO:0006029 9.73 IHH COL2A1 BMP2
13 osteoblast development GO:0002076 9.72 RUNX2 PTHLH HDAC4
14 limb morphogenesis GO:0035108 9.71 COL2A1 HOXD13 IQCE
15 cartilage development GO:0051216 9.63 BMP2 CHSY1 COL2A1 GDF5 IHH
16 chondrocyte differentiation GO:0002062 9.61 RUNX2 IHH GDF5 COL2A1 BMP2
17 skeletal system development GO:0001501 9.47 TRPS1 RUNX2 PTHLH IHH HOXD13 HDAC4

Sources for Brachydactyly

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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