BDB1
MCID: BRC051
MIFTS: 54

Brachydactyly, Type B1 (BDB1)

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

Aliases & Classifications for Brachydactyly, Type B1

MalaCards integrated aliases for Brachydactyly, Type B1:

Name: Brachydactyly, Type B1 57 13 40
Brachydactyly Type B 76 53 59 75
Bdb1 57 12 75
Brachydactyly, Type B 57 55
Brachydactyly Type B1 12 15
Type B Brachydactyly 29 6
Bdb 57 75
Brachydactyly, Type B; Bdb 57
Brachydactyly B1 75

Characteristics:

Orphanet epidemiological data:

59
brachydactyly type b
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
allelic to robinow syndrome, autosomal recessive


HPO:

32
brachydactyly, type b1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 113000
Disease Ontology 12 DOID:0110969
Orphanet 59 ORPHA93383
UMLS via Orphanet 74 C1300267
ICD10 via Orphanet 34 Q73.8
MedGen 42 C1862112
MeSH 44 D059327

Summaries for Brachydactyly, Type B1

NIH Rare Diseases : 53 Brachydactyly type B (BDB) is a condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons.

MalaCards based summary : Brachydactyly, Type B1, also known as brachydactyly type b, is related to robinow syndrome and brachydactyly. An important gene associated with Brachydactyly, Type B1 is ROR2 (Receptor Tyrosine Kinase Like Orphan Receptor 2), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. Affiliated tissues include bone and heart, and related phenotypes are finger syndactyly and broad hallux phalanx

Disease Ontology : 12 A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has material basis in heterozygous mutation in the ROR2 gene on chromosome 9q22.

UniProtKB/Swiss-Prot : 75 Brachydactyly B1: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type B1 the middle phalanges are short but in addition the terminal phalanges are rudimentary or absent. Both fingers and toes are affected. The thumbs and big toes are usually deformed. Symphalangism is also a feature.

Wikipedia : 76 Brachydactyly (Greek βρα�?ύ�? = "short" plus δάκ�?�?λο�? = "finger"), is a medical term which literally... more...

Description from OMIM: 113000

Related Diseases for Brachydactyly, Type B1

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, Type B1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 robinow syndrome 30.5 WNT5A ROR2 DVL1
2 brachydactyly 30.4 ROR2 PTCH1 NOG IHH
3 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.2
4 coloboma of macula with type b brachydactyly 11.8
5 brachydactyly, combined b and e types 11.5
6 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 11.4
7 symphalangism, proximal, 1a 10.2 ROR2 NOG
8 tarsal-carpal coalition syndrome 10.2 ROR2 NOG
9 brachydactyly, type a2 10.1 ROR2 NOG IHH
10 autosomal dominant robinow syndrome 10.1 WNT5A ROR2 DVL1
11 proximal symphalangism 10.0 ROR2 NOG BMP4
12 chromosome 2q35 duplication syndrome 10.0
13 brachydactyly, type a1 10.0 ROR2 PTCH1 IHH
14 spastic paraplegia 25, autosomal recessive 9.9 FGF2 FGF13
15 nodular medulloblastoma 9.9 PTCH1 CTNNB1
16 diffuse glomerulonephritis 9.9 FGF2 FGF13
17 neural tube defects 9.8 VANGL2 PTCH1 NOG DVL1
18 gastric signet ring cell adenocarcinoma 9.8 FGF2 FGF13
19 birt-hogg-dube syndrome 9.8 PTCH1 CTNNB1
20 synovial chondromatosis 9.8 NOG FGF2 BMP4
21 clivus chordoma 9.7 FGF2 FGF13
22 muenke syndrome 9.6 PTCH1 IHH FGF2 FGF13
23 brachydactyly, type b2 9.5 WNT5A ROR2 NOG FGF2 FGF13 DVL1

Graphical network of the top 20 diseases related to Brachydactyly, Type B1:



Diseases related to Brachydactyly, Type B1

Symptoms & Phenotypes for Brachydactyly, Type B1

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
camptodactyly
syndactyly
hypoplastic/aplastic distal phalanges (fingers 2-5)
hypoplastic middle phalanges (fingers 2-5)
symphalangism
more
Skin Nails Hair Skin:
cutaneous syndactyly (less common)

Skeletal Feet:
hypoplastic/aplastic distal phalanges

Skin Nails Hair Nails:
hypoplastic/aplastic fingernails


Clinical features from OMIM:

113000

Human phenotypes related to Brachydactyly, Type B1:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
2 broad hallux phalanx 59 32 occasional (7.5%) Occasional (29-5%) HP:0010059
3 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
4 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
5 synostosis of carpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0005048
6 symphalangism affecting the phalanges of the hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0009773
7 short metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010049
8 absent fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001817
9 type b brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0005831
10 2nd-5th toe middle phalangeal hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008083
11 broad thumb 32 HP:0011304
12 short long bone 32 HP:0003026
13 anonychia 32 HP:0001798
14 ventricular septal defect 32 HP:0001629
15 wide anterior fontanel 32 HP:0000260
16 hemivertebrae 32 HP:0002937
17 vertebral fusion 32 HP:0002948
18 cutaneous finger syndactyly 32 occasional (7.5%) HP:0010554
19 hypoplastic fingernail 32 HP:0001804
20 micropenis 32 HP:0000054
21 delayed cranial suture closure 32 HP:0000270
22 camptodactyly 32 HP:0012385
23 syndactyly 32 HP:0001159
24 aplasia/hypoplasia of the distal phalanges of the toes 32 HP:0010185
25 short middle phalanx of finger 32 HP:0005819
26 joint contracture of the hand 32 HP:0009473
27 delayed eruption of permanent teeth 32 HP:0000696
28 thoracolumbar scoliosis 32 HP:0002944
29 aplasia/hypoplasia of the distal phalanges of the hand 32 hallmark (90%) HP:0009835
30 hypoplastic sacrum 32 HP:0004590

MGI Mouse Phenotypes related to Brachydactyly, Type B1:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.32 BMP4 CTNNB1 DVL1 FGF2 FZD1 IHH
2 cellular MP:0005384 10.31 BMP4 CTNNB1 FGF13 FGF2 IHH NOG
3 embryo MP:0005380 10.24 BMP4 CTNNB1 DVL1 FZD1 IHH NOG
4 mortality/aging MP:0010768 10.23 BMP4 CTNNB1 DVL1 FGF13 FGF2 IHH
5 craniofacial MP:0005382 10.21 BMP4 CTNNB1 FZD1 IHH NOG PTCH1
6 growth/size/body region MP:0005378 10.21 BMP4 CTNNB1 FZD1 IHH NOG PTCH1
7 digestive/alimentary MP:0005381 10.2 BMP4 CTNNB1 FZD1 IHH NOG PTCH1
8 hearing/vestibular/ear MP:0005377 10.19 BMP4 CTNNB1 DVL1 FGF2 FZD1 NOG
9 nervous system MP:0003631 10.18 BMP4 CTNNB1 DVL1 FGF13 FGF2 FZD1
10 endocrine/exocrine gland MP:0005379 10.13 BMP4 CTNNB1 FZD1 IHH NOG PTCH1
11 limbs/digits/tail MP:0005371 10.08 BMP4 CTNNB1 IHH NOG PTCH1 ROR2
12 muscle MP:0005369 9.98 BMP4 CTNNB1 FGF2 IHH NOG PTCH1
13 normal MP:0002873 9.97 BMP4 CTNNB1 DVL1 FZD1 NOG PTCH1
14 reproductive system MP:0005389 9.91 BMP4 CTNNB1 FGF2 FZD1 NOG PTCH1
15 renal/urinary system MP:0005367 9.8 BMP4 CTNNB1 NOG PTCH1 VANGL2 WNT5A
16 respiratory system MP:0005388 9.76 BMP4 CTNNB1 IHH NOG PTCH1 ROR2
17 skeleton MP:0005390 9.73 BMP4 CTNNB1 DVL1 FGF2 FZD1 IHH
18 vision/eye MP:0005391 9.23 BMP4 CTNNB1 FGF2 IHH NOG PTCH1

Drugs & Therapeutics for Brachydactyly, Type B1

Search Clinical Trials , NIH Clinical Center for Brachydactyly, Type B1

Genetic Tests for Brachydactyly, Type B1

Genetic tests related to Brachydactyly, Type B1:

# Genetic test Affiliating Genes
1 Type B Brachydactyly 29 ROR2

Anatomical Context for Brachydactyly, Type B1

MalaCards organs/tissues related to Brachydactyly, Type B1:

41
Bone, Heart

Publications for Brachydactyly, Type B1

Articles related to Brachydactyly, Type B1:

(show all 21)
# Title Authors Year
1
A new mutation in the gene ROR2 causes brachydactyly type B1. ( 24954533 )
2014
2
A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B. ( 23238279 )
2013
3
[Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1]. ( 21377971 )
2011
4
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. ( 20962035 )
2011
5
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. ( 19640924 )
2009
6
Pregnancy after preimplantation genetic diagnosis for brachydactyly type B. ( 19146779 )
2009
7
A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family. ( 19461659 )
2009
8
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. ( 17163524 )
2007
9
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. ( 17668388 )
2007
10
Brachydactyly type B1: report of a family with de novo ROR2 mutation. ( 17101003 )
2006
11
Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. ( 17061261 )
2006
12
[Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B]. ( 14767912 )
2004
13
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. ( 12815588 )
2003
14
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. ( 10700182 )
2000
15
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. ( 10932186 )
2000
16
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. ( 10986040 )
2000
17
Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. ( 9973295 )
1999
18
Brachydactyly type B: case report and further evidence for clinical heterogeneity. ( 10457848 )
1999
19
Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity. ( 10327250 )
1999
20
Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. ( 9973296 )
1999
21
Brachydactyly type B and symphalangism in different members of a Mexican family. ( 1081366 )
1975

Variations for Brachydactyly, Type B1

ClinVar genetic disease variations for Brachydactyly, Type B1:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 ROR2 NM_004560.3(ROR2): c.1589G> A (p.Arg530Gln) single nucleotide variant Likely benign rs35852786 GRCh37 Chromosome 9, 94487187: 94487187
2 ROR2 NM_004560.3(ROR2): c.1589G> A (p.Arg530Gln) single nucleotide variant Likely benign rs35852786 GRCh38 Chromosome 9, 91724905: 91724905
3 ROR2 NM_004560.3(ROR2): c.2151_2152insGCTGCCTTGCCCCGATGACTGT (p.Pro718Alafs) insertion Pathogenic rs886042428 GRCh38 Chromosome 9, 91724342: 91724343
4 ROR2 NM_004560.3(ROR2): c.2151_2152insGCTGCCTTGCCCCGATGACTGT (p.Pro718Alafs) insertion Pathogenic rs886042428 GRCh37 Chromosome 9, 94486624: 94486625
5 ROR2 NM_004560.3(ROR2): c.2244delC (p.Trp749Glyfs) deletion Pathogenic rs863223292 GRCh38 Chromosome 9, 91724250: 91724250
6 ROR2 NM_004560.3(ROR2): c.2244delC (p.Trp749Glyfs) deletion Pathogenic rs863223292 GRCh37 Chromosome 9, 94486532: 94486532
7 ROR2 ROR2, 1-BP INS, 1366C insertion Pathogenic
8 ROR2 NM_004560.3(ROR2): c.2247G> A (p.Trp749Ter) single nucleotide variant Pathogenic rs104894121 GRCh38 Chromosome 9, 91724247: 91724247
9 ROR2 NM_004560.3(ROR2): c.2247G> A (p.Trp749Ter) single nucleotide variant Pathogenic rs104894121 GRCh37 Chromosome 9, 94486529: 94486529
10 ROR2 NM_004560.3(ROR2): c.1321_1325delCGGCG (p.Arg441Thrfs) deletion Pathogenic rs863223290 GRCh38 Chromosome 9, 91726602: 91726606
11 ROR2 NM_004560.3(ROR2): c.1321_1325delCGGCG (p.Arg441Thrfs) deletion Pathogenic rs863223290 GRCh37 Chromosome 9, 94488884: 94488888
12 ROR2 NM_004560.3(ROR2): c.2249delG (p.Gly750Alafs) deletion Pathogenic rs863223289 GRCh38 Chromosome 9, 91724245: 91724245
13 ROR2 NM_004560.3(ROR2): c.2249delG (p.Gly750Alafs) deletion Pathogenic rs863223289 GRCh37 Chromosome 9, 94486527: 94486527
14 ROR2 NM_004560.3(ROR2): c.2246G> A (p.Trp749Ter) single nucleotide variant Pathogenic rs104894122 GRCh38 Chromosome 9, 91724248: 91724248
15 ROR2 NM_004560.3(ROR2): c.2246G> A (p.Trp749Ter) single nucleotide variant Pathogenic rs104894122 GRCh37 Chromosome 9, 94486530: 94486530
16 ROR2 NM_004560.3(ROR2): c.2265C> A (p.Tyr755Ter) single nucleotide variant Pathogenic rs121909082 GRCh38 Chromosome 9, 91724229: 91724229
17 ROR2 NM_004560.3(ROR2): c.2265C> A (p.Tyr755Ter) single nucleotide variant Pathogenic rs121909082 GRCh37 Chromosome 9, 94486511: 94486511

Expression for Brachydactyly, Type B1

Search GEO for disease gene expression data for Brachydactyly, Type B1.

Pathways for Brachydactyly, Type B1

Pathways related to Brachydactyly, Type B1 according to GeneCards Suite gene sharing:

(show all 50)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.06 CTNNB1 DVL1 FGF2 FZD1 IHH NOG
2
Show member pathways
13.7 BMP4 CTNNB1 DVL1 FGF13 FGF2 FZD1
3
Show member pathways
13.48 BMP4 CTNNB1 FGF13 FGF2 IHH PTCH1
4
Show member pathways
13.16 BMP4 CTNNB1 DVL1 FGF13 FGF2 FZD1
5
Show member pathways
12.96 BMP4 CTNNB1 IHH PTCH1 WNT5A
6
Show member pathways
12.91 CTNNB1 DVL1 FGF2 FZD1 TYK2 WNT5A
7
Show member pathways
12.79 CTNNB1 DVL1 FZD1 ROR2 VANGL2 WNT5A
8
Show member pathways
12.7 CTNNB1 DVL1 FGF2 FZD1 WNT5A
9 12.59 BMP4 CTNNB1 DVL1 FGF2 FZD1 PTCH1
10
Show member pathways
12.39 CTNNB1 DVL1 FZD1 ROR2 VANGL2 WNT5A
11 12.38 CTNNB1 DVL1 FZD1 WNT5A
12
Show member pathways
12.38 CTNNB1 DVL1 FZD1 WNT5A
13 12.38 CTNNB1 DVL1 FZD1 WNT5A
14
Show member pathways
12.36 FZD1 IHH PTCH1 WNT5A
15
Show member pathways
12.34 BMP4 CTNNB1 FGF13 FGF2 ROR2
16
Show member pathways
12.2 BMP4 FGF13 FGF2 TYK2
17 12.18 BMP4 CTNNB1 PTCH1 WNT5A
18 12.12 CTNNB1 DVL1 FZD1 WNT5A
19
Show member pathways
12.08 CTNNB1 DVL1 FGF2 FZD1 WNT5A
20
Show member pathways
12.06 CTNNB1 DVL1 FZD1 WNT5A
21 12.05 FGF2 ROR2 TYK2
22 12.04 CTNNB1 DVL1 FZD1 WNT5A
23 12.04 BMP4 CTNNB1 DVL1 FZD1 WNT5A
24 12.04 CTNNB1 FGF2 FZD1 IHH PTCH1 WNT5A
25 12.03 BMP4 CTNNB1 ROR2
26 12 BMP4 CTNNB1 DVL1 FZD1
27 11.96 CTNNB1 DVL1 FZD1
28 11.93 CTNNB1 DVL1 WNT5A
29
Show member pathways
11.92 CTNNB1 DVL1 FZD1 WNT5A
30 11.89 CTNNB1 DVL1 FZD1
31 11.89 BMP4 FGF13 FGF2 NOG WNT5A
32 11.83 BMP4 CTNNB1 DVL1 FGF2
33
Show member pathways
11.81 BMP4 CTNNB1 DVL1 FZD1 PTCH1 WNT5A
34 11.75 BMP4 FGF2 FZD1
35 11.67 CTNNB1 DVL1 FZD1
36 11.64 FGF2 IHH PTCH1
37
Show member pathways
11.61 BMP4 CTNNB1 DVL1 FGF2 FZD1 NOG
38 11.6 CTNNB1 FZD1 WNT5A
39 11.59 BMP4 CTNNB1 NOG
40 11.58 BMP4 CTNNB1 DVL1 FGF2 FZD1 WNT5A
41 11.56 CTNNB1 DVL1 FZD1
42
Show member pathways
11.55 CTNNB1 FZD1 WNT5A
43 11.53 CTNNB1 DVL1 ROR2
44 11.52 BMP4 FGF2 NOG ROR2
45 11.45 CTNNB1 DVL1 FZD1
46 11.42 BMP4 FGF2 NOG WNT5A
47 11.22 DVL1 ROR2 WNT5A
48 11.18 FZD1 ROR2 WNT5A
49 10.95 CTNNB1 FZD1
50 10.57 BMP4 PTCH1

GO Terms for Brachydactyly, Type B1

Cellular components related to Brachydactyly, Type B1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 9.26 CTNNB1 DVL1 FGF13 VANGL2
2 Wnt signalosome GO:1990909 8.8 CTNNB1 DVL1 FZD1

Biological processes related to Brachydactyly, Type B1 according to GeneCards Suite gene sharing:

(show top 50) (show all 107)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.97 BMP4 CTNNB1 DVL1 FGF2 FZD1 PTCH1
2 peptidyl-tyrosine phosphorylation GO:0018108 9.96 FGF2 ROR2 TYK2
3 neuron differentiation GO:0030182 9.95 CTNNB1 FZD1 WNT5A
4 positive regulation of protein phosphorylation GO:0001934 9.95 BMP4 DVL1 FZD1 ROR2 WNT5A
5 positive regulation of neuron projection development GO:0010976 9.94 DVL1 FZD1 WNT5A
6 response to estradiol GO:0032355 9.93 CTNNB1 IHH PTCH1
7 skeletal system development GO:0001501 9.93 BMP4 CTNNB1 IHH NOG ROR2
8 osteoblast differentiation GO:0001649 9.92 BMP4 IHH NOG
9 lung development GO:0030324 9.92 BMP4 CTNNB1 WNT5A
10 BMP signaling pathway GO:0030509 9.91 BMP4 NOG ROR2
11 wound healing GO:0042060 9.91 FGF2 NOG VANGL2 WNT5A
12 negative regulation of canonical Wnt signaling pathway GO:0090090 9.91 DVL1 FZD1 NOG ROR2 WNT5A
13 positive regulation of endothelial cell proliferation GO:0001938 9.9 BMP4 FGF2 WNT5A
14 pattern specification process GO:0007389 9.9 IHH NOG PTCH1
15 negative regulation of cell differentiation GO:0045596 9.9 CTNNB1 IHH NOG
16 cell fate commitment GO:0045165 9.89 BMP4 ROR2 WNT5A
17 negative regulation of epithelial cell proliferation GO:0050680 9.89 BMP4 PTCH1 WNT5A
18 cartilage development GO:0051216 9.89 BMP4 IHH NOG WNT5A
19 heart looping GO:0001947 9.88 IHH VANGL2 WNT5A
20 embryonic limb morphogenesis GO:0030326 9.88 BMP4 PTCH1 WNT5A
21 canonical Wnt signaling pathway GO:0060070 9.88 CTNNB1 DVL1 FZD1 WNT5A
22 smoothened signaling pathway GO:0007224 9.87 BMP4 IHH PTCH1 ROR2
23 outflow tract morphogenesis GO:0003151 9.86 BMP4 FZD1 NOG
24 somatic stem cell population maintenance GO:0035019 9.86 FGF2 NOG VANGL2
25 positive regulation of epithelial cell proliferation GO:0050679 9.86 BMP4 IHH NOG WNT5A
26 negative regulation of BMP signaling pathway GO:0030514 9.85 FZD1 NOG WNT5A
27 neural tube development GO:0021915 9.85 DVL1 NOG WNT5A
28 dorsal/ventral pattern formation GO:0009953 9.84 CTNNB1 NOG PTCH1
29 embryonic skeletal system development GO:0048706 9.84 BMP4 NOG WNT5A
30 positive regulation of JUN kinase activity GO:0043507 9.83 ROR2 VANGL2 WNT5A
31 epithelial to mesenchymal transition GO:0001837 9.83 CTNNB1 NOG WNT5A
32 branching involved in ureteric bud morphogenesis GO:0001658 9.83 BMP4 CTNNB1 FGF2 PTCH1
33 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.82 CTNNB1 ROR2 WNT5A
34 positive regulation of mesenchymal cell proliferation GO:0002053 9.81 CTNNB1 IHH WNT5A
35 vasculature development GO:0001944 9.81 BMP4 CTNNB1 IHH
36 cochlea morphogenesis GO:0090103 9.8 DVL1 VANGL2 WNT5A
37 neural tube closure GO:0001843 9.8 BMP4 NOG PTCH1 VANGL2 WNT5A
38 renal system development GO:0072001 9.79 BMP4 CTNNB1 PTCH1
39 beta-catenin destruction complex disassembly GO:1904886 9.79 CTNNB1 DVL1 FZD1
40 branching involved in blood vessel morphogenesis GO:0001569 9.78 CTNNB1 IHH
41 embryonic hindlimb morphogenesis GO:0035116 9.78 BMP4 CTNNB1
42 pancreas development GO:0031016 9.78 CTNNB1 IHH
43 negative regulation of apoptotic signaling pathway GO:2001234 9.78 CTNNB1 NOG
44 positive regulation of collagen biosynthetic process GO:0032967 9.78 BMP4 IHH
45 anatomical structure formation involved in morphogenesis GO:0048646 9.78 BMP4 NOG
46 bone resorption GO:0045453 9.78 CTNNB1 IHH
47 limb morphogenesis GO:0035108 9.78 PTCH1 WNT5A
48 lung morphogenesis GO:0060425 9.77 BMP4 NOG
49 cell fate specification GO:0001708 9.77 CTNNB1 IHH
50 male genitalia development GO:0030539 9.77 CTNNB1 ROR2

Molecular functions related to Brachydactyly, Type B1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.97 BMP4 CTNNB1 DVL1 FGF13 FGF2 FZD1
2 growth factor activity GO:0008083 9.54 BMP4 FGF13 FGF2
3 protein tyrosine kinase activity GO:0004713 9.5 FGF2 ROR2 TYK2
4 heparin binding GO:0008201 9.43 BMP4 FGF2 PTCH1
5 patched binding GO:0005113 8.96 IHH PTCH1
6 frizzled binding GO:0005109 8.92 DVL1 FZD1 ROR2 WNT5A

Sources for Brachydactyly, Type B1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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