BDB1
MCID: BRC051
MIFTS: 51

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 75 53 59 74
Bdb1 57 12 74
Brachydactyly, Type B 57 55
Brachydactyly Type B1 12 15
Type B Brachydactyly 29 6
Bdb 57 74
Brachydactyly, Type B; Bdb 57
Brachydactyly B1 74

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:

Disease Ontology 12 DOID:0110969
OMIM 57 113000
MeSH 44 D059327
ICD10 via Orphanet 34 Q73.8
UMLS via Orphanet 73 C1300267
Orphanet 59 ORPHA93383
MedGen 42 C1862112

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 symphalangism, proximal, 1a 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 : 74 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 : 75 Brachydactyly (Greek ?????? = "short" plus ???????? = "finger"), is a medical term which literally means... more...

More information 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 37)
# Related Disease Score Top Affiliating Genes
1 symphalangism, proximal, 1a 30.6 ROR2 NOG
2 brachydactyly 30.5 ROR2 PTCH1 NOG IHH
3 robinow syndrome 30.5 WNT5A ROR2 DVL1
4 proximal symphalangism 30.2 ROR2 NOG BMP4
5 brachydactyly, type b2 28.9 WNT5A ROR2 NOG FGF2 FGF13 DVL1
6 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.5
7 coloboma of macula with type b brachydactyly 12.2
8 brachydactyly, combined b and e types 11.6
9 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 11.6
10 food allergy 10.5
11 tarsal-carpal coalition syndrome 10.4 ROR2 NOG
12 autosomal dominant robinow syndrome 10.3 WNT5A ROR2 DVL1
13 brachydactyly, type a2 10.3 ROR2 NOG IHH
14 ror2-related robinow syndrome 10.3
15 tetanus 10.2
16 urticaria 10.2
17 papular urticaria 10.2
18 tremor 10.2
19 brachydactyly, type a1 10.1 ROR2 PTCH1 IHH
20 chromosome 2q35 duplication syndrome 10.0
21 robinow syndrome, autosomal recessive 1 10.0
22 spastic paraplegia 25, autosomal recessive 10.0 FGF2 FGF13
23 split-hand/foot malformation 1 9.9
24 nail disorder, nonsyndromic congenital, 9 9.9
25 isolated split hand-split foot malformation 9.9
26 stapes ankylosis with broad thumbs and toes 9.9
27 multiple synostoses syndrome 1 9.9
28 synostosis 9.9
29 ventricular septal defect 9.9
30 heart septal defect 9.9
31 dwarfism 9.9
32 nodular medulloblastoma 9.9 PTCH1 CTNNB1
33 synovial chondromatosis 9.8 NOG FGF2 BMP4
34 neural tube defects 9.7 VANGL2 PTCH1 NOG DVL1
35 diffuse glomerulonephritis 9.7 FGF2 FGF13
36 gastric signet ring cell adenocarcinoma 9.5 FGF2 FGF13
37 muenke syndrome 9.5 PTCH1 IHH FGF2 FGF13

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:

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

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

MGI Mouse Phenotypes related to Brachydactyly, Type B1:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.36 BMP4 CTNNB1 DVL1 FGF2 FZD1 IHH
2 cellular MP:0005384 10.35 BMP4 CTNNB1 FGF13 FGF2 IHH NOG
3 mortality/aging MP:0010768 10.35 BMP4 CTNNB1 DVL1 FGF13 FGF2 IHH
4 growth/size/body region MP:0005378 10.3 BMP4 CTNNB1 FZD1 IHH NOG NTRK1
5 nervous system MP:0003631 10.28 BMP4 CTNNB1 DVL1 FGF13 FGF2 FZD1
6 craniofacial MP:0005382 10.27 BMP4 CTNNB1 FZD1 IHH NOG PTCH1
7 embryo MP:0005380 10.25 BMP4 CTNNB1 DVL1 FZD1 IHH NOG
8 hearing/vestibular/ear MP:0005377 10.25 BMP4 CTNNB1 DVL1 FGF2 FZD1 NOG
9 digestive/alimentary MP:0005381 10.21 BMP4 CTNNB1 FZD1 IHH NOG PTCH1
10 endocrine/exocrine gland MP:0005379 10.19 BMP4 CTNNB1 FZD1 IHH NOG PTCH1
11 limbs/digits/tail MP:0005371 10.15 BMP4 CTNNB1 IHH NOG NTRK1 PTCH1
12 muscle MP:0005369 10.11 BMP4 CTNNB1 FGF2 IHH NOG NTRK1
13 normal MP:0002873 10.02 BMP4 CTNNB1 DVL1 FZD1 NOG NTRK1
14 reproductive system MP:0005389 10.02 BMP4 CTNNB1 FGF2 FZD1 NOG PTCH1
15 no phenotypic analysis MP:0003012 10.01 BMP4 CTNNB1 IHH NTRK1 PTCH1 RORA
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 vision/eye MP:0005391 9.28 BMP4 CTNNB1 FGF2 IHH NOG NTRK1
19 taste/olfaction MP:0005394 9.26 CTNNB1 NOG PTCH1 RORA

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 top 50) (show all 58)
# Title Authors PMID Year
1
A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family. 9 38 8 71
19461659 2009
2
Brachydactyly type B1: report of a family with de novo ROR2 mutation. 9 38 8 71
17101003 2006
3
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. 9 38 8 71
10700182 2000
4
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. 38 8 71
10986040 2000
5
A novel subtype of distal symphalangism affecting only the 4th finger. 8 71
19533773 2009
6
ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome. 8 71
12919145 2003
7
Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. 38 8
9973296 1999
8
Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. 38 8
9973295 1999
9
Sorsby syndrome: a report on further generations of the original family. 38 8
3385739 1988
10
A new mutation in the gene ROR2 causes brachydactyly type B1. 38 6
24954533 2014
11
A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B. 38 6
23238279 2013
12
Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development. 8
10700181 2000
13
Spatio-temporally regulated expression of receptor tyrosine kinases, mRor1, mRor2, during mouse development: implications in development and function of the nervous system. 8
10231392 1999
14
Hereditary brachydactyly with nail dysplasia. 71
641944 1978
15
Mackinder's hereditary brachydactyly: phenotypic, radiological, dermatoglyphic and genetic observations in an Ontario family. 8
4748760 1973
16
CONGENITAL COLOBOMA OF THE MACULA: TOGETHER WITH AN ACCOUNT OF THE FAMILIAL OCCURRENCE OF BILATERAL MACULAR COLOBOMA IN ASSOCIATION WITH APICAL DYSTROPHY OF HANDS AND FEET. 8
18169256 1935
17
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. 9 38
19640924 2009
18
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved? 9 38
19236432 2009
19
Pregnancy after preimplantation genetic diagnosis for brachydactyly type B. 9 38
19146779 2009
20
P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes. 9 38
18440889 2008
21
The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome. 9 38
18353862 2008
22
The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src. 9 38
18365018 2008
23
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum. 9 38
17665217 2007
24
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. 9 38
17668388 2007
25
Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. 9 38
17061261 2006
26
[Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B]. 9 38
14767912 2004
27
A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome? 9 38
11932993 2002
28
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. 9 38
10932186 2000
29
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. 9 38
10932187 2000
30
Genetic interactions between Ror2 and Wnt9a, Ror1 and Wnt9a and Ror2 and Ror1: Phenotypic analysis of the limb skeleton and palate in compound mutants. 38
30801848 2019
31
ROR-Family Receptor Tyrosine Kinases. 38
28236965 2017
32
Mutation screening in candidate genes in four Chinese brachydactyly families. 38
25696018 2015
33
Novel domains of expression for orphan receptor tyrosine kinase Ror2 in the human and mouse reproductive system. 38
24753105 2014
34
Wnt signaling through the Ror receptor in the nervous system. 38
23990374 2014
35
Ror2-Src signaling in metastasis of mouse melanoma cells is inhibited by NRAGE. 38
23142633 2012
36
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication. 38
22821638 2012
37
Wnt signaling in development and disease. 38
22520685 2012
38
Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance. 38
22529972 2012
39
Wnt signaling gradients establish planar cell polarity by inducing Vangl2 phosphorylation through Ror2. 38
21316585 2011
40
[Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1]. 38
21377971 2011
41
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. 38
20962035 2011
42
Ror-family receptor tyrosine kinases in noncanonical Wnt signaling: their implications in developmental morphogenesis and human diseases. 38
19530173 2010
43
Wnt-ligand-dependent interaction of TAK1 (TGF-beta-activated kinase-1) with the receptor tyrosine kinase Ror2 modulates canonical Wnt-signalling. 38
18762249 2008
44
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 38
17163524 2007
45
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. 38
16007612 2005
46
Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome? 38
15996213 2005
47
A female with Angelman syndrome and unusual limb deformities. 38
15876517 2005
48
Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2. 38
15569154 2004
49
The receptor tyrosine kinase Ror2 associates with the melanoma-associated antigen (MAGE) family protein Dlxin-1 and regulates its intracellular distribution. 38
12754255 2003
50
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. 38
12815588 2003

Variations for Brachydactyly, Type B1

ClinVar genetic disease variations for Brachydactyly, Type B1:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ROR2 NM_004560.4(ROR2): c.2265C> A (p.Tyr755Ter) single nucleotide variant Pathogenic rs121909082 9:94486511-94486511 9:91724229-91724229
2 ROR2 NM_004560.4(ROR2): c.2246G> A (p.Trp749Ter) single nucleotide variant Pathogenic rs104894122 9:94486530-94486530 9:91724248-91724248
3 ROR2 NM_004560.4(ROR2): c.2249del (p.Gly750fs) deletion Pathogenic rs863223289 9:94486527-94486527 9:91724245-91724245
4 ROR2 NM_004560.4(ROR2): c.1321_1325del (p.Arg441fs) deletion Pathogenic rs863223290 9:94488884-94488888 9:91726602-91726606
5 ROR2 NM_004560.4(ROR2): c.2247G> A (p.Trp749Ter) single nucleotide variant Pathogenic rs104894121 9:94486529-94486529 9:91724247-91724247
6 ROR2 ROR2, 1-BP INS, 1366C insertion Pathogenic
7 ROR2 NM_004560.4(ROR2): c.2244del (p.Trp749fs) deletion Pathogenic rs863223292 9:94486532-94486532 9:91724250-91724250
8 46;XX;ins(2;9)(q24.3;p22.1p24.3)dn Translocation Pathogenic
9 ROR2 NM_004560.4(ROR2): c.1589G> A (p.Arg530Gln) single nucleotide variant Likely benign rs35852786 9:94487187-94487187 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 51)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.13 WNT9A WNT5A VANGL2 TYK2 ROR2 PTCH1
2
Show member pathways
13.81 WNT5A ROR2 PTCH1 NTRK1 IHH FZD1
3
Show member pathways
13.53 ROR2 PTCH1 NTRK1 IHH FGF2 FGF13
4
Show member pathways
13.12 WNT9A WNT5A ROR2 NTRK1 FZD1 FGF2
5
Show member pathways
13.01 WNT9A WNT5A PTCH1 IHH CTNNB1 BMP4
6
Show member pathways
12.89 WNT9A WNT5A TYK2 NTRK1 FZD1 FGF2
7
Show member pathways
12.86 WNT9A WNT5A VANGL2 ROR2 FZD1 DVL1
8
Show member pathways
12.75 WNT9A WNT5A FZD1 FGF2 DVL1 CTNNB1
9 12.63 WNT9A WNT5A PTCH1 NTRK1 FZD1 FGF2
10
Show member pathways
12.46 WNT9A WNT5A FZD1 DVL1
11 12.43 WNT9A WNT5A FZD1 DVL1 CTNNB1
12
Show member pathways
12.41 WNT9A WNT5A PTCH1 IHH FZD1
13
Show member pathways
12.38 ROR2 NTRK1 FGF2 FGF13 CTNNB1 BMP4
14 12.37 WNT9A WNT5A FZD1 DVL1 CTNNB1
15
Show member pathways
12.26 TYK2 NTRK1 FGF2 FGF13 BMP4
16 12.23 WNT5A PTCH1 CTNNB1 BMP4
17
Show member pathways
12.23 WNT9A WNT5A VANGL2 ROR2 FZD1 DVL1
18 12.2 WNT9A WNT5A FZD1 DVL1 CTNNB1
19
Show member pathways
12.19 WNT9A WNT5A PTCH1 FZD1 DVL1 CTNNB1
20
Show member pathways
12.18 WNT5A FZD1 FGF2 DVL1 CTNNB1
21 12.18 WNT9A WNT5A PTCH1 IHH FZD1 FGF2
22 12.13 TYK2 ROR2 NTRK1 FGF2
23
Show member pathways
12.1 WNT9A WNT5A FZD1 DVL1 CTNNB1
24 12.07 WNT9A WNT5A FZD1 DVL1 CTNNB1
25 12.07 WNT9A WNT5A FZD1 DVL1 CTNNB1 BMP4
26 12.02 WNT5A NOG FGF2 FGF13 BMP4
27 12 RORA FZD1 DVL1 CTNNB1 BMP4
28
Show member pathways
11.98 WNT9A WNT5A FZD1 DVL1 CTNNB1
29 11.97 FZD1 DVL1 CTNNB1
30 11.94 WNT5A DVL1 CTNNB1
31 11.94 FGF2 DVL1 CTNNB1 BMP4
32 11.93 TYK2 RORA FGF2
33 11.76 FZD1 FGF2 BMP4
34
Show member pathways
11.72 WNT9A WNT5A NTRK1 NOG FZD1 FGF2
35 11.69 NTRK1 FGF2 FGF13 BMP4
36 11.69 FZD1 DVL1 CTNNB1
37 11.67 PTCH1 IHH FGF2
38 11.67 WNT9A WNT5A FZD1 CTNNB1
39 11.65 WNT9A WNT5A FZD1 FGF2 DVL1 CTNNB1
40 11.62 NOG CTNNB1 BMP4
41
Show member pathways
11.61 WNT9A WNT5A FZD1 CTNNB1
42 11.57 ROR2 DVL1 CTNNB1
43 11.57 ROR2 NOG FGF2 BMP4
44 11.5 FZD1 DVL1 CTNNB1
45 11.49 WNT5A NOG FGF2 BMP4
46 11.3 WNT5A ROR2 DVL1
47 11.27 WNT5A ROR2 FZD1
48
Show member pathways
11.03 WNT9A WNT5A
49 10.99 ROR2 NTRK1 FGF2 FGF13 BMP4
50 10.96 FZD1 CTNNB1

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 axon GO:0030424 9.46 ROR2 NTRK1 FGF13 DVL1
2 lateral plasma membrane GO:0016328 9.26 VANGL2 FGF13 DVL1 CTNNB1
3 Wnt signalosome GO:1990909 8.8 FZD1 DVL1 CTNNB1

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

(show top 50) (show all 106)
# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.99 WNT9A WNT5A ROR2 FZD1 DVL1 CTNNB1
2 neuron differentiation GO:0030182 9.97 WNT9A WNT5A FZD1 CTNNB1
3 skeletal system development GO:0001501 9.97 ROR2 NOG IHH CTNNB1 BMP4
4 positive regulation of neuron projection development GO:0010976 9.96 WNT5A NTRK1 FZD1 DVL1
5 negative regulation of canonical Wnt signaling pathway GO:0090090 9.96 WNT5A ROR2 NOG FZD1 DVL1
6 response to estradiol GO:0032355 9.95 PTCH1 IHH CTNNB1
7 osteoblast differentiation GO:0001649 9.95 NOG IHH BMP4
8 lung development GO:0030324 9.94 WNT5A CTNNB1 BMP4
9 BMP signaling pathway GO:0030509 9.94 ROR2 NOG BMP4
10 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.93 NTRK1 FGF2 BMP4
11 wound healing GO:0042060 9.93 WNT5A VANGL2 NOG FGF2
12 positive regulation of endothelial cell proliferation GO:0001938 9.92 WNT5A FGF2 BMP4
13 negative regulation of cell death GO:0060548 9.92 WNT9A FGF2 BMP4
14 pattern specification process GO:0007389 9.91 PTCH1 NOG IHH
15 negative regulation of cell differentiation GO:0045596 9.91 NOG IHH CTNNB1
16 negative regulation of epithelial cell proliferation GO:0050680 9.91 WNT5A PTCH1 BMP4
17 heart looping GO:0001947 9.91 WNT5A VANGL2 IHH
18 cartilage development GO:0051216 9.91 WNT5A NOG IHH BMP4
19 smoothened signaling pathway GO:0007224 9.91 ROR2 PTCH1 IHH BMP4
20 positive regulation of transcription, DNA-templated GO:0045893 9.91 WNT5A RORA ROR2 PTCH1 FZD1 FGF2
21 cellular response to growth factor stimulus GO:0071363 9.9 NTRK1 CTNNB1 BMP4
22 embryonic limb morphogenesis GO:0030326 9.9 WNT5A PTCH1 BMP4
23 outflow tract morphogenesis GO:0003151 9.89 NOG FZD1 BMP4
24 somatic stem cell population maintenance GO:0035019 9.89 VANGL2 NOG FGF2
25 cell fate commitment GO:0045165 9.89 WNT9A WNT5A ROR2 BMP4
26 neural tube closure GO:0001843 9.89 WNT5A VANGL2 PTCH1 NOG BMP4
27 peptidyl-tyrosine phosphorylation GO:0018108 9.88 TYK2 ROR2 NTRK1
28 positive regulation of epithelial cell proliferation GO:0050679 9.88 WNT5A NOG IHH BMP4
29 negative regulation of BMP signaling pathway GO:0030514 9.87 WNT5A NOG FZD1
30 neural tube development GO:0021915 9.87 WNT5A NOG DVL1
31 positive regulation of JUN kinase activity GO:0043507 9.86 WNT5A VANGL2 ROR2
32 embryonic skeletal system development GO:0048706 9.86 WNT5A NOG BMP4
33 dorsal/ventral pattern formation GO:0009953 9.85 PTCH1 NOG CTNNB1
34 epithelial to mesenchymal transition GO:0001837 9.85 WNT5A NOG CTNNB1
35 branching involved in ureteric bud morphogenesis GO:0001658 9.85 PTCH1 FGF2 CTNNB1 BMP4
36 positive regulation of protein phosphorylation GO:0001934 9.85 WNT5A NTRK1 FZD1 DVL1 BMP4
37 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.84 WNT5A ROR2 CTNNB1
38 vasculature development GO:0001944 9.83 IHH CTNNB1 BMP4
39 canonical Wnt signaling pathway GO:0060070 9.83 WNT9A WNT5A FZD1 DVL1 CTNNB1
40 positive regulation of mesenchymal cell proliferation GO:0002053 9.82 WNT5A IHH CTNNB1
41 cochlea morphogenesis GO:0090103 9.82 WNT5A VANGL2 DVL1
42 beta-catenin destruction complex disassembly GO:1904886 9.8 FZD1 DVL1 CTNNB1
43 negative regulation of chondrocyte differentiation GO:0032331 9.79 WNT9A CTNNB1 BMP4
44 lung morphogenesis GO:0060425 9.78 NOG BMP4
45 male genitalia development GO:0030539 9.78 ROR2 CTNNB1
46 cell fate specification GO:0001708 9.78 IHH CTNNB1
47 regulation of cellular protein localization GO:1903827 9.78 WNT5A DVL1
48 post-anal tail morphogenesis GO:0036342 9.78 WNT5A VANGL2
49 positive regulation of endothelial cell differentiation GO:0045603 9.78 CTNNB1 BMP4
50 cell fate determination GO:0001709 9.78 PTCH1 CTNNB1

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

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 9.16 PTCH1 IHH
2 protein tyrosine kinase activity GO:0004713 9.13 TYK2 ROR2 NTRK1
3 frizzled binding GO:0005109 9.02 WNT9A WNT5A ROR2 FZD1 DVL1
4 protein binding GO:0005515 10.13 WNT5A VANGL2 TYK2 RORA ROR2 PTCH1

Sources for Brachydactyly, Type B1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....