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 a2 and brachydactyly, type a1. 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 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 ?????? = "short" plus ???????? = "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 a2 35.3 NOG IHH GDF5 BMPR1B BMP2
2 brachydactyly, type a1 35.3 ROR2 NOG IHH HOXD13 GDF5 BMPR1B
3 brachydactyly, type b1 35.2 ROR2 NOG IHH GDF5
4 brachydactyly, type a4 35.1 IHH HOXD13 GDF5
5 fibular hypoplasia and complex brachydactyly 35.0 NOG GDF5 BMPR1B
6 sugarman brachydactyly 35.0 NOG IHH HOXD13 GDF5 BMPR1B
7 brachydactyly, type a1, c 34.9 NOG GDF5
8 brachydactyly, type a1, b 34.8 NOG IHH HOXD13 GDF5 BMPR1B BMP2
9 brachydactyly, type b2 34.8 NOG GDF5
10 odontochondrodysplasia 33.5 RUNX2 PTHLH IHH GDF5 COL2A1 BMP2
11 pseudohypoparathyroidism, type ia 33.4 PTHLH HDAC4 GNAS
12 multiple synostoses syndrome 33.4 NOG GDF5 BMPR1B
13 pseudopseudohypoparathyroidism 33.2 PTHLH HDAC4 GNAS
14 chondrodysplasia, grebe type 33.1 GDF5 COL2A1 BMPR1B
15 trichorhinophalangeal syndrome, type iii 32.7 TRPS1 GDF5
16 acromesomelic dysplasia, maroteaux type 32.0 GDF5 BMPR1B
17 pseudohypoparathyroidism 31.6 TRPS1 PTHLH GNAS
18 chromosome 2q35 duplication syndrome 31.6 TULP1 NOG IQCE IHH HOXD13 GDF5
19 proximal symphalangism 31.5 ROR2 NOG GDF5 BMPR1B BMP2
20 pyle disease 31.4 RUNX2 PTHLH GNAS COL2A1
21 dysostosis 31.4 RUNX2 NOG HOXD13 GDF5
22 synostosis 31.3 RUNX2 NOG HOXD13 GDF5
23 craniosynostosis 31.3 RUNX2 NOG IHH BMP2
24 acrodysostosis 31.2 PTHLH PDE3A GNAS
25 brittle bone disorder 30.9 RUNX2 COL2A1 BMP2
26 exostosis 30.9 IHH GDF5 BMP2
27 symphalangism, proximal, 1a 30.8 ROR2 NOG
28 clubfoot 30.8 HOXD13 GDF5 COL2A1
29 avascular necrosis 30.8 COL2A1 BMP2
30 osteoporosis 30.7 RUNX2 PTHLH NOG GNAS COL2A1 BMP2
31 brachydactyly, type e1 12.7
32 brachydactyly, type c 12.7
33 hypertension and brachydactyly syndrome 12.7
34 temtamy preaxial brachydactyly syndrome 12.6
35 brachydactyly-syndactyly syndrome 12.6
36 brachydactyly, combined b and e types 12.6
37 brachydactyly, type d 12.6
38 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 12.6
39 brachydactyly, type e2 12.6
40 brachydactyly, type a3 12.5
41 digital arthropathy-brachydactyly, familial 12.5
42 brachydactyly, type a1, d 12.5
43 brachydactyly, preaxial, with hallux varus and thumb abduction 12.5
44 long-thumb brachydactyly syndrome 12.5
45 hirschsprung disease with type d brachydactyly 12.5
46 coloboma of macula with type b brachydactyly 12.5
47 brachydactyly type a7 12.5
48 brachydactyly, mononen type 12.5
49 short stature, brachydactyly, intellectual developmental disability, and seizures 12.5
50 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 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 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.45 BMP2 BMPR1B COL2A1 GDF5 GNAS HDAC4
2 mortality/aging MP:0010768 10.34 BMP2 BMPR1B COL2A1 GDF5 GNAS HDAC4
3 craniofacial MP:0005382 10.33 BMP2 BMPR1B CHSY1 COL2A1 GNAS HDAC4
4 cardiovascular system MP:0005385 10.31 BMP2 COL2A1 GNAS IHH NOG PRMT7
5 cellular MP:0005384 10.3 BMP2 BMPR1B COL2A1 GNAS IHH NOG
6 limbs/digits/tail MP:0005371 10.23 BMP2 BMPR1B CHSY1 COL2A1 GDF5 GNAS
7 digestive/alimentary MP:0005381 10.19 BMP2 COL2A1 HOXD13 IHH NOG PTHLH
8 embryo MP:0005380 10.18 BMP2 BMPR1B COL2A1 GDF5 HOXD13 IHH
9 endocrine/exocrine gland MP:0005379 10.16 BMPR1B GNAS HOXD13 IHH NOG PRMT7
10 nervous system MP:0003631 10.15 BMP2 BMPR1B COL2A1 GNAS HDAC4 IHH
11 hearing/vestibular/ear MP:0005377 10.02 BMP2 COL2A1 GNAS NOG ROR2 SCAPER
12 reproductive system MP:0005389 9.96 BMP2 BMPR1B GDF5 HOXD13 NOG PDE3A
13 muscle MP:0005369 9.95 GNAS HDAC4 HOXD13 IHH NOG PRMT7
14 normal MP:0002873 9.92 BMP2 BMPR1B COL2A1 GNAS NOG PDE3A
15 skeleton MP:0005390 9.86 BMP2 BMPR1B CHSY1 COL2A1 GDF5 GNAS
16 respiratory system MP:0005388 9.76 COL2A1 GNAS IHH NOG PTHLH ROR2
17 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, Thyroid, Pituitary, Skin, Brain, Kidney

Publications for Brachydactyly

Articles related to Brachydactyly:

(show top 50) (show all 1136)
# Title Authors PMID Year
1
Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin. 54 61
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? 54 61
19236432 2009
4
The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src. 54 61
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. 54 61
17236141 2007
8
GDF5 is a second locus for multiple-synostosis syndrome. 54 61
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). 54 61
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. 54 61
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. 54 61
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. 54 61
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. 54 61
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. 54 61
12205109 2002
20
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. 54 61
11850178 2002
21
A case of a Japanese patient with cleidocranial dysplasia possessing a mutation of CBFA1 gene. 54 61
11886988 2002
22
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 54 61
11112658 2001
23
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 54 61
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. 54 61
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. 54 61
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. 54 61
8024616 1994
28
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. 54 61
2109828 1990
29
Forefoot malformations, deformities and other congenital defects in children. 61
31648997 2020
30
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome. 61
32021609 2020
31
Skeletal ciliopathies: a pattern recognition approach. 61
31965514 2020
32
Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking. 61
31516831 2019
33
Grange syndrome due to homozygous YY1AP1 missense rare variants. 61
31633303 2019
34
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum. 61
31595668 2019
35
ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome. 61
31600785 2019
36
Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway. 61
31201465 2019
37
[Brachydactyly and the molecular mechanisms of digit formation]. 61
31857279 2019
38
A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix. 61
31726086 2019
39
Poland syndrome: unilateral hypoplastic pectoralis major with brachydactyly. 61
31326940 2019
40
Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome. 61
31403828 2019
41
Lenz-Majewski syndrome in a patient from Egypt. 61
31403251 2019
42
An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns. 61
31243241 2019
43
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 2019
44
Hypertension and brachydactyly syndrome associated with vertebral artery malformation caused by a PDE3A missense mutation. 61
31549136 2019
45
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. 61
31250547 2019
46
A Unique Manifestation of Bardet-Biedl Syndrome with Otolaryngologic Symptoms and Bronchopneumonia in a One-year-old Girl. 61
31720185 2019
47
Management of pseudohypoparathyroidism. 61
31145125 2019
48
A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family. 61
31019231 2019
49
A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum. 61
31283647 2019
50
Peter Plus Syndrome: A Neurosurgeon's Perspective. 61
31649776 2019

Variations for Brachydactyly

ClinVar genetic disease variations for Brachydactyly:

6 (show top 50) (show all 215) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PPP2R1A NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His)SNV Pathogenic 217458 rs863225094 19:52716329-52716329 19:52213076-52213076
2 TULP1 NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)SNV Pathogenic 30261 rs387906836 6:35471540-35471540 6:35503763-35503763
3 GNAS NM_001077488.4(GNAS):c.85C>T (p.Gln29Ter)SNV Pathogenic 374113 rs1057518907 20:57466866-57466866 20:58891811-58891811
4 PRMT7 NM_001290018.1(PRMT7):c.1713C>A (p.Cys571Ter)SNV Pathogenic 523434 rs1251713297 16:68389688-68389688 16:68355785-68355785
5 subset of 22 genes: FLCN , RAI1 GRCh37/hg19 17p11.2(chr17:16936603-18184130)copy number loss Pathogenic 523258 17:16936603-18184130
6 SCAPER NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer)deletion Pathogenic 548448 rs1567499068 15:76866531-76866531 15:76574190-76574190
7 IQCE NM_152558.5(IQCE):c.895_904del (p.Val301fs)deletion Pathogenic 638149 7:2625907-2625916 7:2586273-2586282
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_019023.4(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 CHST11 NM_018413.6(CHST11):c.482_496del (p.Leu161_Asn165del)deletion Conflicting interpretations of pathogenicity 559505 rs1566067709 12:105151000-105151014 12:104757222-104757236
12 ROR2 NM_004560.4(ROR2):c.1491G>A (p.Pro497=)SNV Conflicting interpretations of pathogenicity 367504 rs146347005 9:94487285-94487285 9:91725003-91725003
13 ROR2 NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln)SNV Conflicting interpretations of pathogenicity 367505 rs767474960 9:94487328-94487328 9:91725046-91725046
14 ROR2 NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser)SNV Conflicting interpretations of pathogenicity 199096 rs141235720 9:94486381-94486381 9:91724099-91724099
15 MEFV NM_000243.2(MEFV):c.2080A>G (p.Met694Val)SNV Conflicting interpretations of pathogenicity 2538 rs61752717 16:3293407-3293407 16:3243407-3243407
16 ROR2 NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu)SNV Conflicting interpretations of pathogenicity 282760 rs56099091 9:94487106-94487106 9:91724824-91724824
17 ROR2 NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr)SNV Conflicting interpretations of pathogenicity 284609 rs142386294 9:94487020-94487020 9:91724738-91724738
18 ROR2 NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)SNV Conflicting interpretations of pathogenicity 159817 rs34491822 9:94486491-94486491 9:91724209-91724209
19 ROR2 NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)SNV Conflicting interpretations of pathogenicity 159819 rs41277835 9:94485971-94485971 9:91723689-91723689
20 ROR2 NM_004560.4(ROR2):c.1959G>A (p.Leu653=)SNV Conflicting interpretations of pathogenicity 159812 rs144549032 9:94486817-94486817 9:91724535-91724535
21 ROR2 NM_004560.4(ROR2):c.986G>A (p.Ser329Asn)SNV Conflicting interpretations of pathogenicity 159824 rs371221714 9:94493389-94493389 9:91731107-91731107
22 ROR2 NM_004560.4(ROR2):c.75G>A (p.Leu25=)SNV Conflicting interpretations of pathogenicity 159822 rs148237260 9:94712171-94712171 9:91949889-91949889
23 ROR2 NM_004560.4(ROR2):c.2684A>G (p.Asp895Gly)SNV Conflicting interpretations of pathogenicity 287327 rs149826387 9:94486092-94486092 9:91723810-91723810
24 ROR2 NM_004560.4(ROR2):c.568A>G (p.Thr190Ala)SNV Conflicting interpretations of pathogenicity 288137 rs34574788 9:94499727-94499727 9:91737445-91737445
25 ROR2 NM_004560.4(ROR2):c.678C>T (p.Phe226=)SNV Conflicting interpretations of pathogenicity 290687 rs202159869 9:94495663-94495663 9:91733381-91733381
26 IHH NM_002181.4(IHH):c.702G>A (p.Glu234=)SNV Uncertain significance 334442 rs201051352 2:219920463-219920463 2:219055741-219055741
27 IHH NM_002181.4(IHH):c.*623dupduplication Uncertain significance 334425 rs886055648 2:219919305-219919306 2:219054583-219054584
28 IHH NM_002181.4(IHH):c.*397G>ASNV Uncertain significance 334426 rs886055649 2:219919532-219919532 2:219054810-219054810
29 IHH NM_002181.4(IHH):c.-14C>TSNV Uncertain significance 334447 rs886055651 2:219925203-219925203 2:219060481-219060481
30 IHH NM_002181.4(IHH):c.-18C>TSNV Uncertain significance 334448 rs886055652 2:219925207-219925207 2:219060485-219060485
31 IHH NM_002181.4(IHH):c.*199G>ASNV Uncertain significance 334428 rs773408612 2:219919730-219919730 2:219055008-219055008
32 IHH NM_002181.4(IHH):c.*83A>TSNV Uncertain significance 334430 rs538403599 2:219919846-219919846 2:219055124-219055124
33 IHH NM_002181.4(IHH):c.1101T>C (p.Phe367=)SNV Uncertain significance 334433 rs886055650 2:219920064-219920064 2:219055342-219055342
34 IHH NM_002181.4(IHH):c.799C>A (p.Arg267Ser)SNV Uncertain significance 334438 rs748379688 2:219920366-219920366 2:219055644-219055644
35 BMPR1B NM_001203.3(BMPR1B):c.762G>T (p.Arg254Ser)SNV Uncertain significance 350120 rs200198618 4:96051189-96051189 4:95130038-95130038
36 BMPR1B NM_001203.3(BMPR1B):c.*245T>ASNV Uncertain significance 350134 rs886059733 4:96076069-96076069 4:95154918-95154918
37 BMPR1B NM_001203.3(BMPR1B):c.*633A>GSNV Uncertain significance 350139 rs886059736 4:96076457-96076457 4:95155306-95155306
38 BMPR1B NM_001203.3(BMPR1B):c.*1157A>GSNV Uncertain significance 350150 rs775047830 4:96076981-96076981 4:95155830-95155830
39 BMPR1B NM_001203.3(BMPR1B):c.*825_*834deldeletion Uncertain significance 350144 rs548956012 4:96076627-96076636 4:95155476-95155485
40 BMPR1B NM_001203.3(BMPR1B):c.728G>A (p.Arg243Lys)SNV Uncertain significance 350119 rs886059731 4:96051155-96051155 4:95130004-95130004
41 BMPR1B NM_001203.3(BMPR1B):c.1105A>G (p.Asn369Asp)SNV Uncertain significance 350124 rs778257341 4:96069927-96069927 4:95148776-95148776
42 BMPR1B NM_001203.3(BMPR1B):c.*391C>ASNV Uncertain significance 350136 rs886059735 4:96076215-96076215 4:95155064-95155064
43 BMPR1B NM_001203.3(BMPR1B):c.*824_*834deldeletion Uncertain significance 350143 rs548956012 4:96076627-96076637 4:95155476-95155486
44 BMPR1B NM_001203.3(BMPR1B):c.*833_*834dupduplication Uncertain significance 350145 rs548956012 4:96076626-96076627 4:95155475-95155476
45 BMPR1B NM_001203.3(BMPR1B):c.*1576G>ASNV Uncertain significance 350153 rs886059740 4:96077400-96077400 4:95156249-95156249
46 BMPR1B NM_001203.3(BMPR1B):c.*133C>ASNV Uncertain significance 350130 rs886059732 4:96075957-96075957 4:95154806-95154806
47 BMPR1B NM_001203.3(BMPR1B):c.*3474A>CSNV Uncertain significance 350180 rs886059745 4:96079298-96079298 4:95158147-95158147
48 BMPR1B NM_001203.3(BMPR1B):c.150C>T (p.Asp50=)SNV Uncertain significance 350114 rs147320212 4:96035877-96035877 4:95114726-95114726
49 BMPR1B NM_001203.3(BMPR1B):c.*762T>CSNV Uncertain significance 350141 rs574500341 4:96076586-96076586 4:95155435-95155435
50 BMPR1B NM_001203.3(BMPR1B):c.*302dupduplication Uncertain significance 350135 rs11436086 4:96076113-96076114 4:95154962-95154963

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 regulation of gene expression GO:0010468 9.94 RUNX2 PTHLH IHH COL2A1
4 cell-cell signaling GO:0007267 9.92 PTHLH IHH GDF5 BMP2
5 osteoblast differentiation GO:0001649 9.86 RUNX2 NOG IHH BMP2
6 ossification GO:0001503 9.84 RUNX2 IHH COL2A1 BMP2
7 regulation of MAPK cascade GO:0043408 9.78 ROR2 GDF5 BMP2
8 SMAD protein signal transduction GO:0060395 9.77 ROR2 GDF5 BMP2
9 pattern specification process GO:0007389 9.77 NOG IHH HOXD13
10 positive regulation of osteoblast differentiation GO:0045669 9.76 RUNX2 GNAS BMPR1B BMP2
11 bone mineralization GO:0030282 9.74 ROR2 PTHLH BMP2
12 embryonic digit morphogenesis GO:0042733 9.73 ROR2 NOG IHH HOXD13
13 endochondral ossification GO:0001958 9.72 RUNX2 GNAS COL2A1
14 positive regulation of chondrocyte differentiation GO:0032332 9.7 RUNX2 GDF5 BMPR1B
15 chondrocyte development GO:0002063 9.69 RUNX2 CHSY1 BMPR1B
16 cartilage condensation GO:0001502 9.67 ROR2 COL2A1 BMPR1B
17 chondrocyte differentiation GO:0002062 9.67 RUNX2 COL2A1 BMPR1B BMP2
18 negative regulation of chondrocyte differentiation GO:0032331 9.66 PTHLH GDF5
19 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.66 GDF5 BMPR1B
20 male genitalia development GO:0030539 9.65 ROR2 HOXD13
21 endocardial cushion morphogenesis GO:0003203 9.65 NOG BMP2
22 somite development GO:0061053 9.65 NOG IHH
23 osteoblast development GO:0002076 9.65 RUNX2 PTHLH HDAC4
24 cellular response to BMP stimulus GO:0071773 9.65 RUNX2 NOG COL2A1 BMPR1B BMP2
25 positive regulation of cartilage development GO:0061036 9.64 BMPR1B BMP2
26 embryonic skeletal joint morphogenesis GO:0060272 9.63 NOG COL2A1
27 mesenchymal cell differentiation GO:0048762 9.63 NOG BMP2
28 BMP signaling pathway GO:0030509 9.63 RUNX2 ROR2 NOG GDF5 BMPR1B BMP2
29 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.62 RUNX2 BMP2
30 limb morphogenesis GO:0035108 9.62 IQCE HOXD13 COL2A1 BMPR1B
31 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.58 RUNX2 BMP2
32 proteoglycan metabolic process GO:0006029 9.58 IHH COL2A1 BMP2
33 cartilage development GO:0051216 9.56 NOG IHH GNAS GDF5 COL2A1 CHSY1
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 9.55 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....