BDB1
MCID: BRC051
MIFTS: 55

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 58 13 41
Brachydactyly Type B 77 54 60 76
Bdb1 58 12 76
Brachydactyly, Type B 58 56
Brachydactyly Type B1 12 15
Type B Brachydactyly 30 6
Bdb 58 76
Brachydactyly, Type B; Bdb 58
Brachydactyly B1 76

Characteristics:

Orphanet epidemiological data:

60
brachydactyly type b
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
allelic to robinow syndrome, autosomal recessive


HPO:

33
brachydactyly, type b1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110969
OMIM 58 113000
MeSH 45 D059327
ICD10 via Orphanet 35 Q73.8
UMLS via Orphanet 75 C1300267
Orphanet 60 ORPHA93383
MedGen 43 C1862112

Summaries for Brachydactyly, Type B1

NIH Rare Diseases : 54 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 short foot and short distal phalanx of finger

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 : 76 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 : 77 Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means... 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 21)
# Related Disease Score Top Affiliating Genes
1 robinow syndrome 30.6 WNT5A ROR2 DVL1
2 brachydactyly 30.4 IHH NOG PTCH1 ROR2
3 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.2
4 coloboma of macula with type b brachydactyly 11.9
5 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 11.4
6 brachydactyly, combined b and e types 11.4
7 symphalangism, proximal, 1a 10.3 ROR2 NOG
8 tarsal-carpal coalition syndrome 10.2 ROR2 NOG
9 autosomal dominant robinow syndrome 10.2 WNT5A ROR2 DVL1
10 brachydactyly, type a2 10.1 ROR2 NOG IHH
11 food allergy 10.1
12 proximal symphalangism 10.1 BMP4 NOG ROR2
13 brachydactyly, type a1 10.0 IHH PTCH1 ROR2
14 spastic paraplegia 25, autosomal recessive 10.0 FGF2 FGF13
15 nodular medulloblastoma 9.9 PTCH1 CTNNB1
16 synovial chondromatosis 9.9 BMP4 FGF2 NOG
17 diffuse glomerulonephritis 9.8 FGF2 FGF13
18 neural tube defects 9.8 VANGL2 PTCH1 NOG DVL1
19 gastric signet ring cell adenocarcinoma 9.7 FGF2 FGF13
20 muenke syndrome 9.6 FGF13 FGF2 IHH PTCH1
21 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

Human phenotypes related to Brachydactyly, Type B1:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001773
2 short distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009882
3 short metacarpal 60 33 hallmark (90%) Very frequent (99-80%) HP:0010049
4 absent fingernail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001817
5 type b brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0005831
6 2nd-5th toe middle phalangeal hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008083
7 aplasia/hypoplasia of the distal phalanges of the hand 33 hallmark (90%) HP:0009835
8 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
9 broad hallux phalanx 60 33 occasional (7.5%) Occasional (29-5%) HP:0010059
10 synostosis of carpal bones 60 33 occasional (7.5%) Occasional (29-5%) HP:0005048
11 symphalangism affecting the phalanges of the hand 60 33 occasional (7.5%) Occasional (29-5%) HP:0009773
12 cutaneous finger syndactyly 33 occasional (7.5%) HP:0010554
13 broad thumb 33 HP:0011304
14 short long bone 33 HP:0003026
15 anonychia 33 HP:0001798
16 ventricular septal defect 33 HP:0001629
17 wide anterior fontanel 33 HP:0000260
18 hemivertebrae 33 HP:0002937
19 vertebral fusion 33 HP:0002948
20 hypoplastic fingernail 33 HP:0001804
21 micropenis 33 HP:0000054
22 delayed cranial suture closure 33 HP:0000270
23 camptodactyly 33 HP:0012385
24 syndactyly 33 HP:0001159
25 aplasia/hypoplasia of the distal phalanges of the toes 33 HP:0010185
26 short middle phalanx of finger 33 HP:0005819
27 joint contracture of the hand 33 HP:0009473
28 delayed eruption of permanent teeth 33 HP:0000696
29 thoracolumbar scoliosis 33 HP:0002944
30 hypoplastic sacrum 33 HP:0004590

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Brachydactyly, Type B1:

47 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.37 BMP4 CTNNB1 DVL1 FGF2 FZD1 IHH
2 cellular MP:0005384 10.36 BMP4 CTNNB1 FGF13 FGF2 IHH NOG
3 mortality/aging MP:0010768 10.34 BMP4 CTNNB1 DVL1 FGF13 FGF2 IHH
4 growth/size/body region MP:0005378 10.28 BMP4 CTNNB1 FZD1 IHH NOG PTCH1
5 craniofacial MP:0005382 10.27 BMP4 CTNNB1 FZD1 IHH NOG PTCH1
6 nervous system MP:0003631 10.27 BMP4 CTNNB1 DVL1 FGF13 FGF2 FZD1
7 embryo MP:0005380 10.26 BMP4 CTNNB1 DVL1 FZD1 IHH NOG
8 digestive/alimentary MP:0005381 10.22 BMP4 CTNNB1 FZD1 IHH NOG PTCH1
9 hearing/vestibular/ear MP:0005377 10.22 BMP4 CTNNB1 DVL1 FGF2 FZD1 NOG
10 endocrine/exocrine gland MP:0005379 10.2 BMP4 CTNNB1 FZD1 IHH NOG PTCH1
11 limbs/digits/tail MP:0005371 10.11 BMP4 CTNNB1 IHH NOG PTCH1 ROR2
12 muscle MP:0005369 10.08 BMP4 CTNNB1 FGF2 IHH NOG PTCH1
13 reproductive system MP:0005389 10.02 BMP4 CTNNB1 FGF2 FZD1 NOG PTCH1
14 normal MP:0002873 10.01 BMP4 CTNNB1 DVL1 FZD1 NOG PTCH1
15 no phenotypic analysis MP:0003012 9.98 BMP4 CTNNB1 IHH PTCH1 RORA VANGL2
16 skeleton MP:0005390 9.97 BMP4 CTNNB1 DVL1 FGF2 FZD1 IHH
17 respiratory system MP:0005388 9.91 BMP4 CTNNB1 IHH NOG PTCH1 ROR2
18 renal/urinary system MP:0005367 9.85 BMP4 CTNNB1 NOG PTCH1 VANGL2 WNT5A
19 taste/olfaction MP:0005394 9.26 CTNNB1 NOG PTCH1 RORA
20 vision/eye MP:0005391 9.23 BMP4 CTNNB1 FGF2 IHH NOG PTCH1

Drugs & Therapeutics for Brachydactyly, Type B1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Skeletal Disorders and Short Stature Completed NCT00001754

Search 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 30 ROR2

Anatomical Context for Brachydactyly, Type B1

MalaCards organs/tissues related to Brachydactyly, Type B1:

42
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 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 ROR2 NM_004560.3(ROR2): c.2265C> A (p.Tyr755Ter) single nucleotide variant Pathogenic rs121909082 GRCh37 Chromosome 9, 94486511: 94486511
2 ROR2 NM_004560.3(ROR2): c.2265C> A (p.Tyr755Ter) single nucleotide variant Pathogenic rs121909082 GRCh38 Chromosome 9, 91724229: 91724229
3 ROR2 NM_004560.3(ROR2): c.2246G> A (p.Trp749Ter) single nucleotide variant Pathogenic rs104894122 GRCh37 Chromosome 9, 94486530: 94486530
4 ROR2 NM_004560.3(ROR2): c.2246G> A (p.Trp749Ter) single nucleotide variant Pathogenic rs104894122 GRCh38 Chromosome 9, 91724248: 91724248
5 ROR2 NM_004560.3(ROR2): c.2249delG (p.Gly750Alafs) deletion Pathogenic rs863223289 GRCh37 Chromosome 9, 94486527: 94486527
6 ROR2 NM_004560.3(ROR2): c.2249delG (p.Gly750Alafs) deletion Pathogenic rs863223289 GRCh38 Chromosome 9, 91724245: 91724245
7 ROR2 NM_004560.3(ROR2): c.1321_1325delCGGCG (p.Arg441Thrfs) deletion Pathogenic rs863223290 GRCh37 Chromosome 9, 94488884: 94488888
8 ROR2 NM_004560.3(ROR2): c.1321_1325delCGGCG (p.Arg441Thrfs) deletion Pathogenic rs863223290 GRCh38 Chromosome 9, 91726602: 91726606
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.2247G> A (p.Trp749Ter) single nucleotide variant Pathogenic rs104894121 GRCh38 Chromosome 9, 91724247: 91724247
11 ROR2 ROR2, 1-BP INS, 1366C insertion Pathogenic
12 ROR2 NM_004560.3(ROR2): c.2244delC (p.Trp749Glyfs) deletion Pathogenic rs863223292 GRCh37 Chromosome 9, 94486532: 94486532
13 ROR2 NM_004560.3(ROR2): c.2244delC (p.Trp749Glyfs) deletion Pathogenic rs863223292 GRCh38 Chromosome 9, 91724250: 91724250
14 46;XX;ins(2;9)(q24.3;p22.1p24.3)dn Translocation Pathogenic
15 ROR2 NM_004560.3(ROR2): c.2151_2152insGCTGCCTTGCCCCGATGACTGT (p.Pro718Alafs) insertion Pathogenic rs886042428 GRCh37 Chromosome 9, 94486624: 94486625
16 ROR2 NM_004560.3(ROR2): c.2151_2152insGCTGCCTTGCCCCGATGACTGT (p.Pro718Alafs) insertion Pathogenic rs886042428 GRCh38 Chromosome 9, 91724342: 91724343
17 ROR2 NM_004560.3(ROR2): c.1589G> A (p.Arg530Gln) single nucleotide variant Likely benign rs35852786 GRCh37 Chromosome 9, 94487187: 94487187
18 ROR2 NM_004560.3(ROR2): c.1589G> A (p.Arg530Gln) single nucleotide variant Likely benign rs35852786 GRCh38 Chromosome 9, 91724905: 91724905

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 top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.12 CTNNB1 DVL1 FGF2 FZD1 IHH NOG
2
Show member pathways
13.81 BMP4 CTNNB1 DVL1 FGF13 FGF2 FZD1
3
Show member pathways
13.49 BMP4 CTNNB1 FGF13 FGF2 IHH PTCH1
4
Show member pathways
13.14 BMP4 CTNNB1 DVL1 FGF13 FGF2 FZD1
5
Show member pathways
13.05 BMP4 CTNNB1 IHH PTCH1 WNT5A WNT9A
6
Show member pathways
12.97 CTNNB1 DVL1 FGF2 FZD1 TYK2 WNT5A
7
Show member pathways
12.84 CTNNB1 DVL1 FZD1 ROR2 VANGL2 WNT5A
8
Show member pathways
12.74 CTNNB1 DVL1 FGF2 FZD1 WNT5A WNT9A
9 12.65 BMP4 CTNNB1 DVL1 FGF2 FZD1 PTCH1
10
Show member pathways
12.45 DVL1 FZD1 WNT5A WNT9A
11 12.42 CTNNB1 DVL1 FZD1 WNT5A WNT9A
12
Show member pathways
12.4 FZD1 IHH PTCH1 WNT5A WNT9A
13
Show member pathways
12.36 BMP4 CTNNB1 FGF13 FGF2 ROR2
14 12.35 CTNNB1 DVL1 FZD1 WNT5A WNT9A
15 12.22 BMP4 CTNNB1 PTCH1 WNT5A
16
Show member pathways
12.2 BMP4 FGF13 FGF2 TYK2
17
Show member pathways
12.2 CTNNB1 DVL1 FZD1 ROR2 VANGL2 WNT5A
18 12.19 CTNNB1 DVL1 FZD1 WNT5A WNT9A
19
Show member pathways
12.19 BMP4 CTNNB1 DVL1 FZD1 PTCH1 WNT5A
20
Show member pathways
12.16 CTNNB1 DVL1 FGF2 FZD1 WNT5A
21 12.1 CTNNB1 FGF2 FZD1 IHH PTCH1 WNT5A
22
Show member pathways
12.09 CTNNB1 DVL1 FZD1 WNT5A WNT9A
23 12.05 FGF2 ROR2 TYK2
24 12.04 BMP4 CTNNB1 ROR2
25 12.04 CTNNB1 DVL1 FZD1 WNT5A WNT9A
26 12.03 BMP4 CTNNB1 DVL1 FZD1 WNT5A WNT9A
27 12 BMP4 FGF13 FGF2 NOG WNT5A
28
Show member pathways
12 BMP4 CTNNB1 DVL1 FGF2 FZD1 NOG
29 11.98 BMP4 CTNNB1 DVL1 FZD1 RORA
30 11.96 CTNNB1 DVL1 FZD1
31
Show member pathways
11.96 CTNNB1 DVL1 FZD1 WNT5A WNT9A
32 11.93 CTNNB1 DVL1 WNT5A
33 11.93 BMP4 CTNNB1 DVL1 FGF2
34 11.92 FGF2 RORA TYK2
35 11.89 CTNNB1 DVL1 FZD1
36 11.76 BMP4 FGF2 FZD1
37 11.68 CTNNB1 DVL1 FZD1
38 11.66 FGF2 IHH PTCH1
39 11.66 CTNNB1 FZD1 WNT5A WNT9A
40 11.61 BMP4 CTNNB1 NOG
41
Show member pathways
11.61 CTNNB1 FZD1 WNT5A WNT9A
42 11.57 CTNNB1 DVL1 FZD1
43 11.57 BMP4 FGF2 NOG ROR2
44 11.56 CTNNB1 DVL1 ROR2
45 11.49 CTNNB1 DVL1 FZD1
46 11.49 BMP4 FGF2 NOG WNT5A
47 11.31 BMP4 CTNNB1 DVL1 FGF2 FZD1 WNT5A
48 11.29 DVL1 ROR2 WNT5A
49 11.25 FZD1 ROR2 WNT5A
50
Show member pathways
11.02 WNT5A WNT9A

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 105)
# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.97 CTNNB1 DVL1 FZD1 ROR2 WNT5A WNT9A
2 neuron differentiation GO:0030182 9.96 CTNNB1 FZD1 WNT5A WNT9A
3 skeletal system development GO:0001501 9.96 BMP4 CTNNB1 IHH NOG ROR2
4 positive regulation of neuron projection development GO:0010976 9.95 DVL1 FZD1 WNT5A
5 response to estradiol GO:0032355 9.94 CTNNB1 IHH PTCH1
6 osteoblast differentiation GO:0001649 9.94 BMP4 IHH NOG
7 lung development GO:0030324 9.93 BMP4 CTNNB1 WNT5A
8 BMP signaling pathway GO:0030509 9.93 BMP4 NOG ROR2
9 negative regulation of canonical Wnt signaling pathway GO:0090090 9.93 DVL1 FZD1 NOG ROR2 WNT5A
10 positive regulation of endothelial cell proliferation GO:0001938 9.92 BMP4 FGF2 WNT5A
11 wound healing GO:0042060 9.92 FGF2 NOG VANGL2 WNT5A
12 negative regulation of cell death GO:0060548 9.91 BMP4 FGF2 WNT9A
13 pattern specification process GO:0007389 9.91 IHH NOG PTCH1
14 negative regulation of cell differentiation GO:0045596 9.91 CTNNB1 IHH NOG
15 cartilage development GO:0051216 9.91 BMP4 IHH NOG WNT5A
16 negative regulation of epithelial cell proliferation GO:0050680 9.9 BMP4 PTCH1 WNT5A
17 heart looping GO:0001947 9.9 IHH VANGL2 WNT5A
18 embryonic limb morphogenesis GO:0030326 9.89 BMP4 PTCH1 WNT5A
19 outflow tract morphogenesis GO:0003151 9.89 BMP4 FZD1 NOG
20 smoothened signaling pathway GO:0007224 9.89 BMP4 IHH PTCH1 ROR2
21 positive regulation of protein phosphorylation GO:0001934 9.88 BMP4 DVL1 FZD1 WNT5A
22 cell fate commitment GO:0045165 9.88 BMP4 ROR2 WNT5A WNT9A
23 neural tube closure GO:0001843 9.88 BMP4 NOG PTCH1 VANGL2 WNT5A
24 somatic stem cell population maintenance GO:0035019 9.87 FGF2 NOG VANGL2
25 negative regulation of BMP signaling pathway GO:0030514 9.87 FZD1 NOG WNT5A
26 positive regulation of epithelial cell proliferation GO:0050679 9.87 BMP4 IHH NOG WNT5A
27 neural tube development GO:0021915 9.86 DVL1 NOG WNT5A
28 dorsal/ventral pattern formation GO:0009953 9.85 CTNNB1 NOG PTCH1
29 embryonic skeletal system development GO:0048706 9.85 BMP4 NOG WNT5A
30 positive regulation of JUN kinase activity GO:0043507 9.85 ROR2 VANGL2 WNT5A
31 branching involved in ureteric bud morphogenesis GO:0001658 9.85 BMP4 CTNNB1 FGF2 PTCH1
32 epithelial to mesenchymal transition GO:0001837 9.84 CTNNB1 NOG WNT5A
33 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.83 CTNNB1 ROR2 WNT5A
34 canonical Wnt signaling pathway GO:0060070 9.83 CTNNB1 DVL1 FZD1 WNT5A WNT9A
35 positive regulation of mesenchymal cell proliferation GO:0002053 9.82 CTNNB1 IHH WNT5A
36 vasculature development GO:0001944 9.81 BMP4 CTNNB1 IHH
37 cochlea morphogenesis GO:0090103 9.81 DVL1 VANGL2 WNT5A
38 renal system development GO:0072001 9.8 BMP4 CTNNB1 PTCH1
39 beta-catenin destruction complex disassembly GO:1904886 9.79 CTNNB1 DVL1 FZD1
40 negative regulation of chondrocyte differentiation GO:0032331 9.79 BMP4 CTNNB1 WNT9A
41 regulation of smoothened signaling pathway GO:0008589 9.78 PTCH1 RORA
42 anatomical structure formation involved in morphogenesis GO:0048646 9.78 BMP4 NOG
43 bone resorption GO:0045453 9.78 CTNNB1 IHH
44 limb morphogenesis GO:0035108 9.78 PTCH1 WNT5A
45 lung morphogenesis GO:0060425 9.78 BMP4 NOG
46 cell fate specification GO:0001708 9.78 CTNNB1 IHH
47 male genitalia development GO:0030539 9.78 CTNNB1 ROR2
48 cell fate determination GO:0001709 9.78 CTNNB1 PTCH1
49 positive regulation of endothelial cell differentiation GO:0045603 9.78 BMP4 CTNNB1
50 post-anal tail morphogenesis GO:0036342 9.77 VANGL2 WNT5A

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

# Name GO ID Score Top Affiliating Genes
1 frizzled binding GO:0005109 9.02 DVL1 FZD1 ROR2 WNT5A WNT9A
2 patched binding GO:0005113 8.96 IHH PTCH1
3 protein binding GO:0005515 10 BMP4 CTNNB1 DVL1 FGF13 FGF2 FZD1

Sources for Brachydactyly, Type B1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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