MCID: BRC006
MIFTS: 52

Brachydactyly

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

Aliases & Classifications for Brachydactyly

MalaCards integrated aliases for Brachydactyly:

Name: Brachydactyly 12 73 20 36 29 54 6 15 39 70

Classifications:



External Ids:

Disease Ontology 12 DOID:0050581
KEGG 36 H00482
UMLS 70 C0221357

Summaries for Brachydactyly

GARD : 20 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 skin, kidney and thyroid, and related phenotypes are growth/size/body region and cellular

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 : 73 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 a2 33.4 NOG IHH GDF5 BMPR1B BMP2
2 brachydactyly, type a1 33.4 ROR2 PTHLH NOG IHH HOXD13 GDF5
3 hypertension and brachydactyly syndrome 33.4 TRPS1 PTHLH PDE3A HOXD13
4 brachydactyly, type b1 33.4 ROR2 NOG IHH GDF5
5 du pan syndrome 33.2 NOG IHH GDF5 BMPR1B
6 brachydactyly, type a4 33.1 IHH HOXD13 GDF5
7 brachydactyly, type a1, c 33.0 NOG GDF5
8 sugarman brachydactyly 33.0 NOG IHH HOXD13 GDF5 BMPR1B
9 brachydactyly, type b2 32.9 NOG GDF5
10 brachydactyly, type e2 32.8 PTHLH HOXD13
11 brachydactyly, type a1, b 32.8 NOG IHH HOXD13 GDF5 BMPR1B BMP2
12 odontochondrodysplasia 32.4 RUNX2 PTHLH PRMT7 IHH GNAS GDF5
13 pseudohypoparathyroidism, type ia 32.3 PTHLH PDE3A GNAS
14 multiple synostoses syndrome 32.3 NOG GDF5 BMPR1B
15 cleidocranial dysplasia 32.2 RUNX2 IHH BMP2
16 trichorhinophalangeal syndrome, type iii 32.2 TRPS1 GDF5
17 tarsal-carpal coalition syndrome 32.1 NOG GDF5
18 acrocapitofemoral dysplasia 32.0 IHH GDF5
19 chondrodysplasia, grebe type 31.8 GDF5 BMPR1B
20 pseudohypoparathyroidism 31.0 TRPS1 PTHLH GNAS
21 proximal symphalangism 30.9 ROR2 NOG IHH GDF5 BMPR1B BMP2
22 dysostosis 30.9 RUNX2 NOG IHH HOXD13 GDF5
23 craniosynostosis 30.9 TRPS1 RUNX2 NOG IHH BMP2
24 synostosis 30.8 RUNX2 NOG IHH HOXD13 GDF5
25 acrodysostosis 30.8 PTHLH PDE3A HOXD13 GNAS
26 chromosome 2q35 duplication syndrome 30.7 TULP1 NOG NIPBL IQCE IHH HOXD13
27 brittle bone disorder 30.6 RUNX2 PTHLH IHH BMP2
28 exostosis 30.4 IHH GDF5 BMP2
29 syndactyly, type v 30.1 PTHLH HOXD13
30 brachydactyly, type e1 11.7
31 brachydactyly, type c 11.7
32 temtamy preaxial brachydactyly syndrome 11.6
33 brachydactyly-syndactyly syndrome 11.6
34 brachydactyly, type d 11.5
35 brachydactyly, combined b and e types 11.5
36 chromosome 2q37 deletion syndrome 11.5
37 liebenberg syndrome 11.5
38 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 11.5
39 brachydactyly, type a3 11.5
40 osebold-remondini syndrome 11.5
41 digital arthropathy-brachydactyly, familial 11.4
42 brachydactyly, type a1, d 11.4
43 brachydactyly, preaxial, with hallux varus and thumb abduction 11.4
44 long-thumb brachydactyly syndrome 11.4
45 multiple synostoses syndrome 1 11.4
46 short stature, brachydactyly, impaired intellectual development, and seizures 11.4
47 hirschsprung disease with type d brachydactyly 11.4
48 cryptomicrotia-brachydactyly syndrome 11.4
49 coloboma of macula with type b brachydactyly 11.4
50 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 11.4

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 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.42 BMP2 BMPR1B CHSY1 GDF5 GNAS HOXD13
2 cellular MP:0005384 10.4 BMP2 BMPR1B CHSY1 GNAS IHH MEFV
3 mortality/aging MP:0010768 10.31 BMP2 BMPR1B CHSY1 GDF5 GNAS HOXD13
4 craniofacial MP:0005382 10.29 BMP2 BMPR1B CHSY1 GNAS IHH NIPBL
5 cardiovascular system MP:0005385 10.27 BMP2 GNAS IHH NIPBL NOG PRMT7
6 limbs/digits/tail MP:0005371 10.25 BMP2 BMPR1B CHSY1 GDF5 GNAS HOXD13
7 endocrine/exocrine gland MP:0005379 10.21 BMPR1B GNAS HOXD13 IHH NOG PRMT7
8 embryo MP:0005380 10.18 BMP2 BMPR1B GDF5 HOXD13 IHH NIPBL
9 nervous system MP:0003631 10.15 BMP2 BMPR1B CHSY1 GNAS IHH NIPBL
10 digestive/alimentary MP:0005381 10.14 BMP2 HOXD13 IHH NOG PTHLH ROR2
11 integument MP:0010771 10.11 CHSY1 GNAS HOXD13 MEFV NOG PRMT7
12 reproductive system MP:0005389 10 BMP2 BMPR1B GDF5 HOXD13 MEFV NOG
13 normal MP:0002873 9.97 BMP2 BMPR1B GNAS MEFV NIPBL NOG
14 hearing/vestibular/ear MP:0005377 9.95 BMP2 GNAS NIPBL NOG ROR2 TULP1
15 skeleton MP:0005390 9.86 BMP2 BMPR1B CHSY1 GDF5 GNAS HOXD13
16 respiratory system MP:0005388 9.7 GNAS IHH NOG PTHLH ROR2 RUNX2
17 vision/eye MP:0005391 9.36 BMPR1B CHSY1 HOXD13 IHH IQCE NIPBL

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

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
Skin, Kidney, Thyroid, Eye, Cerebellum, Spinal Cord, Myeloid

Publications for Brachydactyly

Articles related to Brachydactyly:

(show top 50) (show all 1191)
# Title Authors PMID Year
1
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 61 6
30723319 2019
2
Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin. 61 54
20033473 2010
3
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. 61 54
19640924 2009
4
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved? 54 61
19236432 2009
5
The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src. 54 61
18365018 2008
6
Successful treatment with infliximab of refractory rheumatoid arthritis in a male with 'GDF5 brachydactyly'. 61 54
17602228 2007
7
A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. 61 54
17632781 2007
8
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. 61 54
17236141 2007
9
GDF5 is a second locus for multiple-synostosis syndrome. 61 54
16532400 2006
10
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. 61 54
15952209 2005
11
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
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. 61 54
15643621 2005
13
The pathophysiology of HOX genes and their role in cancer. 61 54
15643670 2005
14
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. 54 61
15070926 2004
15
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. 54 61
12970262 2003
16
ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome. 61 54
12919145 2003
17
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
18
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. 54 61
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. 61 54
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. 61 54
12205109 2002
21
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. 61 54
11850178 2002
22
A case of a Japanese patient with cleidocranial dysplasia possessing a mutation of CBFA1 gene. 61 54
11886988 2002
23
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 54 61
11112658 2001
24
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 54 61
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. 61 54
10446938 1999
26
Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation. 61 54
9600732 1998
27
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. 54 61
9600744 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. 54 61
8024616 1994
29
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. 61 54
2109828 1990
30
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. 61
33743206 2021
31
Aesthetic and Anatomic Reconstruction of Polysyndactyly of the Fifth Toe Fused With the Fourth Toe. 61
32568755 2021
32
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype. 61
33774370 2021
33
A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome. 61
33653342 2021
34
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations. 61
33333243 2021
35
Pseudohypoparathyroidism: application of the Italian common healthcare-pathway for a homogeneous clinical approach and a shared follow up. 61
33663571 2021
36
Pseudohypoparathyroidism Type 1A with Normocalcaemia, due to the Novel C.389A>G Variant of Exon 5 of the Guanine Nucleotide-Binding Protein, α-Stimulating Gene. 61
33730787 2021
37
The power of zebrafish models for understanding the co-occurrence of craniofacial and limb disorders. 61
33393730 2021
38
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients. 61
33270042 2021
39
Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria. 61
33159949 2021
40
A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia. 61
33748277 2021
41
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome. 61
33537682 2021
42
BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype. 61
33486847 2021
43
Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH. 61
33205215 2021
44
Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype. 61
33141070 2021
45
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities. 61
33159882 2020
46
NAA10 variant in 38-week-gestation male patient: a case study. 61
33335012 2020
47
Novel compound heterozygous pathogenic BBS5 variants in Filipino siblings with Bardet-Biedl syndrome (BBS). 61
32811249 2020
48
Laurence-Moon-Bardet-Biedl Syndrome: A Rare Case With a Literature Review. 61
33304690 2020
49
Shortening Scarf Osteotomy for Macrodactyly and Valgus of the Hallux in Acrodysostosis Lesser Toes Brachydactyly. 61
33215519 2020
50
Brachydactyly-anonychia with congenital absent phalanges of the hand. 61
32068944 2020

Variations for Brachydactyly

ClinVar genetic disease variations for Brachydactyly:

6 (show top 50) (show all 179)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TULP1 NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) SNV Pathogenic 30261 rs387906836 GRCh37: 6:35471540-35471540
GRCh38: 6:35503763-35503763
2 overlap with 22 genes GRCh37/hg19 17p11.2(chr17:16936603-18184130) copy number loss Pathogenic 523258 GRCh37: 17:16936603-18184130
GRCh38:
3 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) SNV Pathogenic 523434 rs1251713297 GRCh37: 16:68389688-68389688
GRCh38: 16:68355785-68355785
4 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) SNV Pathogenic 523435 rs1014959895 GRCh37: 16:68363008-68363008
GRCh38: 16:68329105-68329105
5 PPP2R1A NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His) SNV Pathogenic 217458 rs863225094 GRCh37: 19:52716329-52716329
GRCh38: 19:52213076-52213076
6 SCAPER NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer) Deletion Pathogenic 548448 rs1567499068 GRCh37: 15:76866531-76866531
GRCh38: 15:76574190-76574190
7 GNAS NM_000516.6(GNAS):c.85C>T (p.Gln29Ter) SNV Pathogenic 374113 rs1057518907 GRCh37: 20:57466866-57466866
GRCh38: 20:58891811-58891811
8 MEFV NM_000243.3(MEFV):c.2080A>G SNV Pathogenic 2538 rs61752717 GRCh37: 16:3293407-3293407
GRCh38: 16:3243407-3243407
9 IQCE NM_152558.5(IQCE):c.895_904del (p.Val301fs) Deletion Pathogenic 638149 rs773701437 GRCh37: 7:2625907-2625916
GRCh38: 7:2586273-2586282
10 NIPBL NM_133433.4(NIPBL):c.6242G>C (p.Gly2081Ala) SNV Likely pathogenic 374158 rs587784000 GRCh37: 5:37044582-37044582
GRCh38: 5:37044480-37044480
11 TRPS1 NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr) SNV Likely pathogenic 374202 rs1057518972 GRCh37: 8:116430587-116430587
GRCh38: 8:115418359-115418359
12 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser) SNV Uncertain significance 895535 GRCh37: 20:34022146-34022146
GRCh38: 20:35434348-35434348
13 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-220C>T SNV Uncertain significance 338327 rs886056643 GRCh37: 20:34025928-34025928
GRCh38: 20:35438148-35438148
14 GDF5 NM_000557.5(GDF5):c.226G>T (p.Ala76Ser) SNV Uncertain significance 895672 GRCh37: 20:34025483-34025483
GRCh38: 20:35437703-35437703
15 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-97T>C SNV Uncertain significance 895743 GRCh37: 20:34025805-34025805
GRCh38: 20:35438025-35438025
16 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1374C>G (p.Pro458=) SNV Uncertain significance 896867 GRCh37: 20:34021839-34021839
GRCh38: 20:35434041-35434041
17 GDF5 NM_000557.5(GDF5):c.506C>A (p.Pro169His) SNV Uncertain significance 895610 GRCh37: 20:34025203-34025203
GRCh38: 20:35437423-35437423
18 GDF5 NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) SNV Uncertain significance 897084 GRCh37: 20:34025527-34025527
GRCh38: 20:35437747-35437747
19 GDF5 NM_000557.5(GDF5):c.483G>A (p.Pro161=) SNV Uncertain significance 897014 GRCh37: 20:34025226-34025226
GRCh38: 20:35437446-35437446
20 GDF5 NM_000557.5(GDF5):c.57G>T (p.Leu19=) SNV Uncertain significance 897561 GRCh37: 20:34025652-34025652
GRCh38: 20:35437872-35437872
21 GDF5 NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) SNV Uncertain significance 595155 rs373973964 GRCh37: 20:34025684-34025684
GRCh38: 20:35437904-35437904
22 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-236G>A SNV Uncertain significance 898778 GRCh37: 20:34025944-34025944
GRCh38: 20:35438164-35438164
23 CHST11 NM_018413.6(CHST11):c.482_496del (p.Leu161_Asn165del) Deletion Uncertain significance 559505 rs1566067709 GRCh37: 12:105151000-105151014
GRCh38: 12:104757222-104757236
24 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*166G>A SNV Uncertain significance 338315 rs569761315 GRCh37: 20:34021541-34021541
GRCh38: 20:35433743-35433743
25 BMPR1B NM_001203.3(BMPR1B):c.*3527G>A SNV Uncertain significance 907790 GRCh37: 4:96079351-96079351
GRCh38: 4:95158200-95158200
26 BMPR1B NM_001203.3(BMPR1B):c.*3677A>G SNV Uncertain significance 907791 GRCh37: 4:96079501-96079501
GRCh38: 4:95158350-95158350
27 BMPR1B NM_001203.3(BMPR1B):c.*3318A>G SNV Uncertain significance 907788 GRCh37: 4:96079142-96079142
GRCh38: 4:95157991-95157991
28 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-30C>A SNV Uncertain significance 338324 rs375024998 GRCh37: 20:34025738-34025738
GRCh38: 20:35437958-35437958
29 BMPR1B NM_001203.3(BMPR1B):c.*1576G>A SNV Uncertain significance 350153 rs886059740 GRCh37: 4:96077400-96077400
GRCh38: 4:95156249-95156249
30 BMPR1B NM_001203.3(BMPR1B):c.*2572G>T SNV Uncertain significance 350170 rs886059743 GRCh37: 4:96078396-96078396
GRCh38: 4:95157245-95157245
31 BMPR1B NM_001203.3(BMPR1B):c.*1157A>G SNV Uncertain significance 350150 rs775047830 GRCh37: 4:96076981-96076981
GRCh38: 4:95155830-95155830
32 BMPR1B NM_001203.3(BMPR1B):c.*3719G>C SNV Uncertain significance 350185 rs886059747 GRCh37: 4:96079543-96079543
GRCh38: 4:95158392-95158392
33 BMPR1B NM_001203.3(BMPR1B):c.*109G>A SNV Uncertain significance 350128 rs374115313 GRCh37: 4:96075933-96075933
GRCh38: 4:95154782-95154782
34 BMPR1B NM_001203.3(BMPR1B):c.*2307C>T SNV Uncertain significance 905205 GRCh37: 4:96078131-96078131
GRCh38: 4:95156980-95156980
35 BMPR1B NM_001203.3(BMPR1B):c.-88C>G SNV Uncertain significance 906580 GRCh37: 4:95917215-95917215
GRCh38: 4:94996064-94996064
36 BMPR1B NM_001203.3(BMPR1B):c.36C>T (p.Gly12=) SNV Uncertain significance 906583 GRCh37: 4:96025611-96025611
GRCh38: 4:95104460-95104460
37 BMPR1B NM_001203.3(BMPR1B):c.*139C>T SNV Uncertain significance 906648 GRCh37: 4:96075963-96075963
GRCh38: 4:95154812-95154812
38 BMPR1B NM_001203.3(BMPR1B):c.*1375A>T SNV Uncertain significance 906723 GRCh37: 4:96077199-96077199
GRCh38: 4:95156048-95156048
39 BMPR1B NM_001203.3(BMPR1B):c.*1637T>A SNV Uncertain significance 906724 GRCh37: 4:96077461-96077461
GRCh38: 4:95156310-95156310
40 BMPR1B NM_001203.3(BMPR1B):c.*1661A>G SNV Uncertain significance 906726 GRCh37: 4:96077485-96077485
GRCh38: 4:95156334-95156334
41 BMPR1B NM_001203.3(BMPR1B):c.*1792C>T SNV Uncertain significance 906727 GRCh37: 4:96077616-96077616
GRCh38: 4:95156465-95156465
42 BMPR1B NM_001203.3(BMPR1B):c.233A>G (p.Asp78Gly) SNV Uncertain significance 907599 GRCh37: 4:96035960-96035960
GRCh38: 4:95114809-95114809
43 BMPR1B NM_001203.3(BMPR1B):c.482T>G (p.Ile161Ser) SNV Uncertain significance 907601 GRCh37: 4:96046169-96046169
GRCh38: 4:95125018-95125018
44 BMPR1B NM_001203.3(BMPR1B):c.490G>A (p.Glu164Lys) SNV Uncertain significance 907602 GRCh37: 4:96046177-96046177
GRCh38: 4:95125026-95125026
45 BMPR1B NM_001203.3(BMPR1B):c.*221C>T SNV Uncertain significance 907674 GRCh37: 4:96076045-96076045
GRCh38: 4:95154894-95154894
46 BMPR1B NM_001203.3(BMPR1B):c.*283G>A SNV Uncertain significance 907675 GRCh37: 4:96076107-96076107
GRCh38: 4:95154956-95154956
47 BMPR1B NM_001203.3(BMPR1B):c.*524C>T SNV Uncertain significance 907676 GRCh37: 4:96076348-96076348
GRCh38: 4:95155197-95155197
48 BMPR1B NM_001203.3(BMPR1B):c.*1800G>A SNV Uncertain significance 907734 GRCh37: 4:96077624-96077624
GRCh38: 4:95156473-95156473
49 BMPR1B NM_001203.3(BMPR1B):c.*1831A>G SNV Uncertain significance 907735 GRCh37: 4:96077655-96077655
GRCh38: 4:95156504-95156504
50 BMPR1B NM_001203.3(BMPR1B):c.*824_*834del Deletion Uncertain significance 350143 rs548956012 GRCh37: 4:96076627-96076637
GRCh38: 4:95155476-95155486

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

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.13 RUNX2 NOG NIPBL IHH HOXD13 BMPR1B
2 cell differentiation GO:0030154 10.09 RUNX2 ROR2 PRMT7 NOG IHH BMPR1B
3 cell-cell signaling GO:0007267 9.92 PTHLH IHH GDF5 BMP2
4 regulation of gene expression GO:0010468 9.91 RUNX2 PTHLH NIPBL MEFV IHH
5 ossification GO:0001503 9.82 RUNX2 IHH BMP2
6 osteoblast differentiation GO:0001649 9.78 RUNX2 NOG IHH BMP2
7 SMAD protein signal transduction GO:0060395 9.77 ROR2 GDF5 BMP2
8 pattern specification process GO:0007389 9.75 NOG IHH HOXD13
9 bone mineralization GO:0030282 9.71 ROR2 PTHLH BMP2
10 chondrocyte differentiation GO:0002062 9.7 RUNX2 BMPR1B BMP2
11 negative regulation of chondrocyte differentiation GO:0032331 9.67 PTHLH GDF5
12 cartilage condensation GO:0001502 9.67 ROR2 BMPR1B
13 male genitalia development GO:0030539 9.67 ROR2 HOXD13
14 embryonic cranial skeleton morphogenesis GO:0048701 9.67 RUNX2 NIPBL GNAS
15 positive regulation of osteoblast differentiation GO:0045669 9.67 RUNX2 GNAS BMPR1B BMP2
16 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.66 GDF5 BMPR1B
17 endocardial cushion morphogenesis GO:0003203 9.66 NOG BMP2
18 osteoblast development GO:0002076 9.65 RUNX2 PTHLH
19 somite development GO:0061053 9.65 NOG IHH
20 positive regulation of cartilage development GO:0061036 9.65 BMPR1B BMP2
21 embryonic digestive tract morphogenesis GO:0048557 9.64 NIPBL IHH
22 positive regulation of ossification GO:0045778 9.63 NIPBL BMP2
23 regulation of chondrocyte differentiation GO:0032330 9.63 TRPS1 PTHLH
24 limb morphogenesis GO:0035108 9.63 IQCE HOXD13 BMPR1B
25 BMP signaling pathway GO:0030509 9.63 RUNX2 ROR2 NOG GDF5 BMPR1B BMP2
26 forelimb morphogenesis GO:0035136 9.62 NIPBL GDF5
27 embryonic digit morphogenesis GO:0042733 9.62 ROR2 NOG IHH HOXD13
28 mesenchymal cell differentiation GO:0048762 9.61 NOG BMP2
29 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.61 RUNX2 BMP2
30 chondrocyte development GO:0002063 9.61 RUNX2 CHSY1 BMPR1B
31 proteoglycan metabolic process GO:0006029 9.6 IHH BMP2
32 positive regulation of chondrocyte differentiation GO:0032332 9.58 RUNX2 GDF5 BMPR1B
33 BMP signaling pathway involved in heart development GO:0061312 9.57 NOG BMP2
34 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.56 RUNX2 BMP2
35 cellular response to BMP stimulus GO:0071773 9.56 RUNX2 NOG BMPR1B BMP2
36 cartilage development GO:0051216 9.5 NOG IHH GNAS GDF5 CHSY1 BMPR1B
37 skeletal system development GO:0001501 9.32 TRPS1 RUNX2 ROR2 PTHLH NOG IHH

Sources for Brachydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....