MCID: BRC006
MIFTS: 53

Brachydactyly

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

Aliases & Classifications for Brachydactyly

MalaCards integrated aliases for Brachydactyly:

Name: Brachydactyly 12 74 52 36 29 54 6 15 39 71

Classifications:



External Ids:

Disease Ontology 12 DOID:0050581
KEGG 36 H00482
UMLS 71 C0221357

Summaries for Brachydactyly

NIH Rare Diseases : 52 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 a2. 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 skin, and related phenotypes are growth/size/body region and mortality/aging

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

KEGG : 36 Brachydactyly (BD) comprises hereditary limb malformations characterized by apparent shortening of digits. Bone dysostosis is seen in middle phalanges in type A; distal phalanges in type B; distal phalanx of the thumb in type D; metacarpals in type E. Type C characterized by shortening of multiple phalanges and hyperphalangy. Brachydactyly is caused by improper development of the bones.

Wikipedia : 74 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 483)
# Related Disease Score Top Affiliating Genes
1 brachydactyly, type a1 35.3 ROR2 PTHLH NOG IHH HOXD13 GDF5
2 brachydactyly, type a2 35.3 NOG IHH GDF5 BMPR1B BMP2
3 brachydactyly, type b1 35.2 ROR2 NOG IHH GDF5
4 hypertension and brachydactyly syndrome 35.2 TRPS1 PTHLH PDE3A HOXD13
5 brachydactyly, type a4 35.1 IHH HOXD13 GDF5
6 sugarman brachydactyly 35.0 NOG IHH HOXD13 GDF5 BMPR1B
7 brachydactyly, type a1, c 34.9 NOG GDF5
8 brachydactyly, type a1, b 34.9 NOG IHH HOXD13 GDF5 BMPR1B BMP2
9 brachydactyly, type b2 34.8 NOG GDF5
10 brachydactyly, type e2 34.6 PTHLH HOXD13
11 du pan syndrome 34.5 NOG IHH GDF5 BMPR1B
12 chromosome 2q37 deletion syndrome 33.7 HDAC4 GNAS
13 odontochondrodysplasia 33.5 RUNX2 PTHLH PRMT7 IHH GNAS GDF5
14 pseudohypoparathyroidism, type ia 33.4 PTHLH PDE3A HDAC4 GNAS
15 multiple synostoses syndrome 33.4 NOG GDF5 BMPR1B
16 chondrodysplasia, grebe type 33.1 GDF5 COL2A1 BMPR1B
17 acrocapitofemoral dysplasia 32.8 IHH GDF5
18 trichorhinophalangeal syndrome, type iii 32.8 TRPS1 GDF5
19 tarsal-carpal coalition syndrome 32.6 NOG GDF5
20 pseudohypoparathyroidism 31.6 TRPS1 PTHLH GNAS
21 chromosome 2q35 duplication syndrome 31.6 TULP1 NOG IQCE IHH HOXD13 GDF5
22 proximal symphalangism 31.5 ROR2 NOG GDF5 BMPR1B BMP2
23 dysostosis 31.4 RUNX2 NOG IHH HOXD13 GDF5
24 synostosis 31.4 RUNX2 NOG IHH HOXD13 GDF5 BMP2
25 craniosynostosis 31.3 RUNX2 NOG IHH BMP2
26 metaphyseal dysplasia 31.3 RUNX2 PTHLH COL2A1
27 acrodysostosis 31.2 PTHLH PDE3A GNAS
28 brittle bone disorder 30.9 RUNX2 COL2A1 BMP2
29 exostosis 30.9 IHH GDF5 COL2A1 BMP2
30 symphalangism, proximal, 1a 30.8 ROR2 NOG
31 avascular necrosis 30.8 COL2A1 BMP2
32 osteoarthritis 30.8 RUNX2 GDF5 COL2A1 BMP2
33 osteoporosis 30.7 RUNX2 PTHLH NOG GNAS COL2A1 BMP2
34 brachydactyly, type e1 12.7
35 brachydactyly, type c 12.7
36 temtamy preaxial brachydactyly syndrome 12.6
37 brachydactyly-syndactyly syndrome 12.6
38 brachydactyly, type d 12.6
39 brachydactyly, combined b and e types 12.6
40 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 12.6
41 brachydactyly, type a3 12.6
42 digital arthropathy-brachydactyly, familial 12.5
43 brachydactyly, type a1, d 12.5
44 brachydactyly, preaxial, with hallux varus and thumb abduction 12.5
45 long-thumb brachydactyly syndrome 12.5
46 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 12.5
47 hirschsprung disease with type d brachydactyly 12.5
48 coloboma of macula with type b brachydactyly 12.5
49 brachydactyly type a7 12.5
50 brachydactyly, mononen type 12.5

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 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.5 BMP2 BMPR1B CHSY1 COL2A1 GDF5 GNAS
2 mortality/aging MP:0010768 10.36 BMP2 BMPR1B CHSY1 COL2A1 GDF5 GNAS
3 cellular MP:0005384 10.35 BMP2 BMPR1B CHSY1 COL2A1 GNAS IHH
4 craniofacial MP:0005382 10.35 BMP2 BMPR1B CHSY1 COL2A1 GNAS HDAC4
5 cardiovascular system MP:0005385 10.32 BMP2 COL2A1 GNAS IHH NOG PRMT7
6 limbs/digits/tail MP:0005371 10.26 BMP2 BMPR1B CHSY1 COL2A1 GDF5 GNAS
7 nervous system MP:0003631 10.22 BMP2 BMPR1B CHSY1 COL2A1 GNAS HDAC4
8 digestive/alimentary MP:0005381 10.21 BMP2 COL2A1 HOXD13 IHH NOG PTHLH
9 embryo MP:0005380 10.2 BMP2 BMPR1B COL2A1 GDF5 HOXD13 IHH
10 endocrine/exocrine gland MP:0005379 10.19 BMPR1B GNAS HOXD13 IHH NOG PRMT7
11 integument MP:0010771 10.1 CHSY1 GNAS HDAC4 HOXD13 NOG PTHLH
12 hearing/vestibular/ear MP:0005377 10.05 BMP2 COL2A1 GNAS NOG ROR2 SCAPER
13 muscle MP:0005369 9.98 GNAS HDAC4 HOXD13 IHH NOG PRMT7
14 normal MP:0002873 9.97 BMP2 BMPR1B COL2A1 GNAS NOG PDE3A
15 reproductive system MP:0005389 9.96 BMP2 BMPR1B GDF5 HOXD13 NOG PDE3A
16 renal/urinary system MP:0005367 9.87 CHSY1 COL2A1 GNAS HOXD13 NOG PTHLH
17 skeleton MP:0005390 9.86 BMP2 BMPR1B CHSY1 COL2A1 GDF5 GNAS
18 respiratory system MP:0005388 9.76 COL2A1 GNAS IHH NOG PTHLH ROR2
19 vision/eye MP:0005391 9.36 BMPR1B CHSY1 COL2A1 HOXD13 IHH IQCE

Drugs & Therapeutics for Brachydactyly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia) Unknown status NCT00497484 recombinant human somatotropin
2 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
3 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:

40
Bone, Heart, Skin, Brain, Kidney, Thyroid, Nk Cells

Publications for Brachydactyly

Articles related to Brachydactyly:

(show top 50) (show all 1152)
# Title Authors PMID Year
1
Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin. 61 54
20033473 2010
2
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. 54 61
19640924 2009
3
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved? 61 54
19236432 2009
4
The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src. 61 54
18365018 2008
5
Successful treatment with infliximab of refractory rheumatoid arthritis in a male with 'GDF5 brachydactyly'. 54 61
17602228 2007
6
A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. 54 61
17632781 2007
7
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. 61 54
17236141 2007
8
GDF5 is a second locus for multiple-synostosis syndrome. 61 54
16532400 2006
9
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. 54 61
15952209 2005
10
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). 61 54
15809997 2005
11
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. 61 54
15643621 2005
12
The pathophysiology of HOX genes and their role in cancer. 54 61
15643670 2005
13
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. 61 54
15070926 2004
14
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. 54 61
12970262 2003
15
ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome. 54 61
12919145 2003
16
Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation. 61 54
12719376 2003
17
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. 54 61
12620993 2003
18
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. 61 54
12548386 2003
19
Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule. 61 54
12205109 2002
20
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. 61 54
11850178 2002
21
A case of a Japanese patient with cleidocranial dysplasia possessing a mutation of CBFA1 gene. 61 54
11886988 2002
22
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 61 54
11112658 2001
23
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 61 54
10861678 2000
24
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. 61 54
10446938 1999
25
Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation. 54 61
9600732 1998
26
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. 61 54
9600744 1998
27
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. 61 54
8024616 1994
28
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. 61 54
2109828 1990
29
Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation. 61
32442662 2020
30
Aesthetic and Anatomic Reconstruction of Polysyndactyly of the Fifth Toe Fused With the Fourth Toe. 61
32568755 2020
31
Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome). 61
32341815 2020
32
Phosphodiesterase 3A and Arterial Hypertension. 61
32524868 2020
33
A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix. 61
31726086 2020
34
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. 61
32097528 2020
35
Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family: A case report. 61
32481259 2020
36
A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia. 61
32460719 2020
37
PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features. 61
31589936 2020
38
Clinical and molecular description of 16 families with heterozygous IHH variants. 61
32311039 2020
39
A novel variant of IHH in a Chinese family with brachydactyly type 1. 61
32209048 2020
40
[Clinical practice guidelines for brachydactyly type A1]. 61
32128750 2020
41
Skeletal ciliopathies: a pattern recognition approach. 61
31965514 2020
42
Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred. 61
32256301 2020
43
Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation. 61
31549136 2020
44
Forefoot malformations, deformities and other congenital defects in children. 61
31648997 2020
45
Brachydactyly-anonychia with congenital absent phalanges of the hand. 61
32068944 2020
46
Chronic Metacarpophalangeal Joint Instability in a Patient with Bardet-Biedl Syndrome and Brachydactyly. 61
32135553 2020
47
A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe with/without Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype. 61
32509852 2020
48
Comprehensive prosthetic rehabilitation of a case of the orofacial digital syndrome. 61
32089607 2020
49
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome. 61
32021609 2020
50
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum. 61
31595668 2019

Variations for Brachydactyly

ClinVar genetic disease variations for Brachydactyly:

6 (show top 50) (show all 180) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)SNV Pathogenic 523434 rs1251713297 16:68389688-68389688 16:68355785-68355785
2 subset of 22 genes: FLCN , RAI1 GRCh37/hg19 17p11.2(chr17:16936603-18184130)copy number loss Pathogenic 523258 17:16936603-18184130
3 SCAPER NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer)deletion Pathogenic 548448 rs1567499068 15:76866531-76866531 15:76574190-76574190
4 IQCE NM_152558.5(IQCE):c.895_904del (p.Val301fs)deletion Pathogenic 638149 7:2625907-2625916 7:2586273-2586282
5 TULP1 NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)SNV Pathogenic 30261 rs387906836 6:35471540-35471540 6:35503763-35503763
6 PPP2R1A NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His)SNV Pathogenic 217458 rs863225094 19:52716329-52716329 19:52213076-52213076
7 GNAS NM_001077488.4(GNAS):c.85C>T (p.Gln29Ter)SNV Pathogenic 374113 rs1057518907 20:57466866-57466866 20:58891811-58891811
8 TRPS1 NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr)SNV Pathogenic/Likely pathogenic 374202 rs1057518972 8:116430587-116430587 8:115418359-115418359
9 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)SNV Pathogenic/Likely pathogenic 523435 rs1014959895 16:68363008-68363008 16:68329105-68329105
10 NIPBL NM_133433.4(NIPBL):c.6242G>C (p.Gly2081Ala)SNV Likely pathogenic 374158 rs587784000 5:37044582-37044582 5:37044480-37044480
11 GDF5 NM_000557.5(GDF5):c.168C>A (p.Asn56Lys)SNV Conflicting interpretations of pathogenicity 338323 rs199666386 20:34025541-34025541 20:35437761-35437761
12 GDF5 NM_000557.5(GDF5):c.1104C>T (p.Thr368=)SNV Conflicting interpretations of pathogenicity 338317 rs748907807 20:34022109-34022109 20:35434311-35434311
13 GDF5 NM_000557.5(GDF5):c.855C>T (p.Gly285=)SNV Conflicting interpretations of pathogenicity 338320 rs149593773 20:34022358-34022358 20:35434560-35434560
14 TBX18 NM_001080508.3(TBX18):c.1285C>T (p.Arg429Ter)SNV Conflicting interpretations of pathogenicity 280531 rs886041719 6:85446942-85446942 6:84737224-84737224
15 BMPR1B NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser)SNV Conflicting interpretations of pathogenicity 350123 rs577188671 4:96069924-96069924 4:95148773-95148773
16 MEFV NM_000243.2(MEFV):c.2080A>G (p.Met694Val)SNV Conflicting interpretations of pathogenicity 2538 rs61752717 16:3293407-3293407 16:3243407-3243407
17 GDF5 NM_000557.5(GDF5):c.631+6G>ASNV Conflicting interpretations of pathogenicity 895609 20:34025072-34025072 20:35437292-35437292
18 GDF5 NM_000557.5(GDF5):c.-134C>GSNV Conflicting interpretations of pathogenicity 896024 20:34025842-34025842 20:35438062-35438062
19 GDF5 NM_000557.5(GDF5):c.206C>G (p.Ala69Gly)SNV Conflicting interpretations of pathogenicity 895673 20:34025503-34025503 20:35437723-35437723
20 CHST11 NM_018413.6(CHST11):c.482_496del (p.Leu161_Asn165del)deletion Conflicting interpretations of pathogenicity 559505 rs1566067709 12:105151000-105151014 12:104757222-104757236
21 GDF5 NM_000557.5(GDF5):c.*259G>CSNV Conflicting interpretations of pathogenicity 895466 20:34021448-34021448 20:35433650-35433650
22 GDF5 NM_000557.5(GDF5):c.1374C>G (p.Pro458=)SNV Uncertain significance 896867 20:34021839-34021839 20:35434041-35434041
23 GDF5 NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser)SNV Uncertain significance 895535 20:34022146-34022146 20:35434348-35434348
24 GDF5 NM_000557.5(GDF5):c.506C>A (p.Pro169His)SNV Uncertain significance 895610 20:34025203-34025203 20:35437423-35437423
25 GDF5 NM_000557.5(GDF5):c.483G>A (p.Pro161=)SNV Uncertain significance 897014 20:34025226-34025226 20:35437446-35437446
26 GDF5 NM_000557.5(GDF5):c.226G>T (p.Ala76Ser)SNV Uncertain significance 895672 20:34025483-34025483 20:35437703-35437703
27 GDF5 NM_000557.5(GDF5):c.25T>C (p.Phe9Leu)SNV Uncertain significance 595155 rs373973964 20:34025684-34025684 20:35437904-35437904
28 GDF5 NM_000557.5(GDF5):c.182G>A (p.Gly61Glu)SNV Uncertain significance 897084 20:34025527-34025527 20:35437747-35437747
29 GDF5 NM_000557.5(GDF5):c.57G>T (p.Leu19=)SNV Uncertain significance 897561 20:34025652-34025652 20:35437872-35437872
30 GDF5 NM_000557.5(GDF5):c.-97T>CSNV Uncertain significance 895743 20:34025805-34025805 20:35438025-35438025
31 GDF5 NM_000557.5(GDF5):c.-236G>ASNV Uncertain significance 898778 20:34025944-34025944 20:35438164-35438164
32 BMPR1B NM_001203.3(BMPR1B):c.482T>G (p.Ile161Ser)SNV Uncertain significance 907601 4:96046169-96046169 4:95125018-95125018
33 BMPR1B NM_001203.3(BMPR1B):c.490G>A (p.Glu164Lys)SNV Uncertain significance 907602 4:96046177-96046177 4:95125026-95125026
34 BMPR1B NM_001203.3(BMPR1B):c.581T>C (p.Leu194Pro)SNV Uncertain significance 904270 4:96046268-96046268 4:95125117-95125117
35 BMPR1B NM_001203.3(BMPR1B):c.790G>A (p.Ala264Thr)SNV Uncertain significance 904271 4:96052377-96052377 4:95131226-95131226
36 BMPR1B NM_001203.3(BMPR1B):c.1234A>G (p.Arg412Gly)SNV Uncertain significance 905062 4:96070056-96070056 4:95148905-95148905
37 BMPR1B NM_001203.3(BMPR1B):c.*83C>GSNV Uncertain significance 905063 4:96075907-96075907 4:95154756-95154756
38 BMPR1B NM_001203.3(BMPR1B):c.*139C>TSNV Uncertain significance 906648 4:96075963-96075963 4:95154812-95154812
39 BMPR1B NM_001203.3(BMPR1B):c.*221C>TSNV Uncertain significance 907674 4:96076045-96076045 4:95154894-95154894
40 BMPR1B NM_001203.3(BMPR1B):c.*283G>ASNV Uncertain significance 907675 4:96076107-96076107 4:95154956-95154956
41 BMPR1B NM_001203.3(BMPR1B):c.*524C>TSNV Uncertain significance 907676 4:96076348-96076348 4:95155197-95155197
42 BMPR1B NM_001203.3(BMPR1B):c.*744C>TSNV Uncertain significance 904343 4:96076568-96076568 4:95155417-95155417
43 BMPR1B NM_001203.3(BMPR1B):c.*828T>GSNV Uncertain significance 904344 4:96076652-96076652 4:95155501-95155501
44 BMPR1B NM_001203.3(BMPR1B):c.*834T>ASNV Uncertain significance 904345 4:96076658-96076658 4:95155507-95155507
45 BMPR1B NM_001203.3(BMPR1B):c.*1065T>ASNV Uncertain significance 905142 4:96076889-96076889 4:95155738-95155738
46 BMPR1B NM_001203.3(BMPR1B):c.-198G>CSNV Uncertain significance 904996 4:95679204-95679204 4:94758053-94758053
47 BMPR1B NM_001203.3(BMPR1B):c.-182G>ASNV Uncertain significance 904997 4:95796982-95796982 4:94875831-94875831
48 BMPR1B NM_001203.3(BMPR1B):c.-167A>GSNV Uncertain significance 904998 4:95796997-95796997 4:94875846-94875846
49 BMPR1B NM_001203.3(BMPR1B):c.-88C>GSNV Uncertain significance 906580 4:95917215-95917215 4:94996064-94996064
50 BMPR1B NM_001203.3(BMPR1B):c.36C>T (p.Gly12=)SNV Uncertain significance 906583 4:96025611-96025611 4:95104460-95104460

Expression for Brachydactyly

Search GEO for disease gene expression data for Brachydactyly.

Pathways for Brachydactyly

Pathways related to Brachydactyly according to KEGG:

36
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340
2 TGF-beta signaling pathway hsa04350

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 TULP1 PTHLH NOG IHH GNAS GDF5

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.16 RUNX2 NOG IHH HOXD13 HDAC4 BMPR1B
2 cell differentiation GO:0030154 10.12 RUNX2 ROR2 PRMT7 NOG IHH BMPR1B
3 cell-cell signaling GO:0007267 9.93 PTHLH IHH GDF5 BMP2
4 osteoblast differentiation GO:0001649 9.85 RUNX2 NOG IHH BMP2
5 ossification GO:0001503 9.84 RUNX2 IHH COL2A1 BMP2
6 SMAD protein signal transduction GO:0060395 9.77 ROR2 GDF5 BMP2
7 pattern specification process GO:0007389 9.76 NOG IHH HOXD13
8 positive regulation of osteoblast differentiation GO:0045669 9.76 RUNX2 GNAS BMPR1B BMP2
9 bone mineralization GO:0030282 9.74 ROR2 PTHLH BMP2
10 endochondral ossification GO:0001958 9.73 RUNX2 GNAS COL2A1
11 embryonic digit morphogenesis GO:0042733 9.73 ROR2 NOG IHH HOXD13
12 chondrocyte differentiation GO:0002062 9.71 RUNX2 COL2A1 BMPR1B BMP2
13 cartilage condensation GO:0001502 9.7 ROR2 COL2A1 BMPR1B
14 chondrocyte development GO:0002063 9.69 RUNX2 CHSY1 BMPR1B
15 positive regulation of chondrocyte differentiation GO:0032332 9.67 RUNX2 GDF5 BMPR1B
16 negative regulation of chondrocyte differentiation GO:0032331 9.66 PTHLH GDF5
17 male genitalia development GO:0030539 9.66 ROR2 HOXD13
18 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.65 GDF5 BMPR1B
19 endocardial cushion morphogenesis GO:0003203 9.65 NOG BMP2
20 positive regulation of cartilage development GO:0061036 9.65 BMPR1B BMP2
21 osteoblast development GO:0002076 9.65 RUNX2 PTHLH HDAC4
22 cellular response to BMP stimulus GO:0071773 9.65 RUNX2 NOG COL2A1 BMPR1B BMP2
23 somite development GO:0061053 9.64 NOG IHH
24 positive regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902043 9.64 TRPS1 BMPR1B
25 regulation of chondrocyte differentiation GO:0032330 9.63 TRPS1 PTHLH
26 BMP signaling pathway GO:0030509 9.63 RUNX2 ROR2 NOG GDF5 BMPR1B BMP2
27 embryonic skeletal joint morphogenesis GO:0060272 9.62 NOG COL2A1
28 mesenchymal cell differentiation GO:0048762 9.62 NOG BMP2
29 limb morphogenesis GO:0035108 9.62 IQCE HOXD13 COL2A1 BMPR1B
30 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.61 RUNX2 BMP2
31 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.59 RUNX2 BMP2
32 cartilage development GO:0051216 9.56 NOG IHH GNAS GDF5 COL2A1 CHSY1
33 proteoglycan metabolic process GO:0006029 9.54 IHH COL2A1 BMP2
34 skeletal system development GO:0001501 9.4 TRPS1 RUNX2 ROR2 PTHLH NOG IHH

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 TULP1 TRPS1 SCAPER RUNX2 ROR2 PTHLH

Sources for Brachydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....