BDB1
MCID: BRC051
MIFTS: 48

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 56 13 39
Brachydactyly Type B 74 52 58 73
Bdb1 56 12 73
Brachydactyly, Type B 56 54
Brachydactyly Type B1 12 15
Type B Brachydactyly 29 6
Bdb 56 73
Brachydactyly, Type B; Bdb 56
Brachydactyly B1 73

Characteristics:

Orphanet epidemiological data:

58
brachydactyly type b
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
allelic to robinow syndrome, autosomal recessive


HPO:

31
brachydactyly, type b1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110969
OMIM 56 113000
MeSH 43 D059327
ICD10 via Orphanet 33 Q73.8
UMLS via Orphanet 72 C1300267
Orphanet 58 ORPHA93383
MedGen 41 C1862112

Summaries for Brachydactyly, Type B1

NIH Rare Diseases : 52 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 robinow syndrome, autosomal recessive 1. 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 Wnt and Wnt / Hedgehog / Notch. Affiliated tissues include bone and heart, and related phenotypes are short metacarpal and short foot

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.

OMIM : 56 Type B1 brachydactyly (BDB1) is the most severe type of human brachydactyly, and shows high penetrance and variable expressivity. Hypoplastic or absent distal phalanges and nails of digits 2 through 5 in the hands and feet are cardinal phenotypic features of BDB1. The middle phalanges of digits 2 through 5 are usually short and may form a bony fusion with the corresponding hypoplastic distal phalanges. The deformed thumbs are often flat, broad, or bifid. A rarer feature of BDB1 is cutaneous syndactyly affecting both fingers and toes (summary by Lv et al., 2009). (113000)

UniProtKB/Swiss-Prot : 73 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 : 74 Brachydactyly (Greek ?????? = "short" plus ???????? = "finger"), is a medical term which literally means... more...

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 top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 symphalangism, proximal, 1a 30.3 ROR2 NOG
2 robinow syndrome, autosomal recessive 1 30.1 WNT5A ROR2
3 robinow syndrome 30.1 WNT5A ROR2 DVL3
4 brachydactyly 30.0 ROR2 NOG IHH GDF5
5 brachydactyly, type b2 29.8 NOG GDF5 DVL3
6 proximal symphalangism 29.8 ROR2 NOG GDF5
7 chromosome 2q35 duplication syndrome 29.6 NOG IHH GDF5
8 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.5
9 coloboma of macula with type b brachydactyly 12.2
10 brachydactyly, combined b and e types 11.6
11 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 11.6
12 food allergy 10.5
13 ror2-related robinow syndrome 10.3
14 total spina bifida aperta 10.2 VANGL2 VANGL1
15 cervicothoracic spina bifida aperta 10.2 VANGL2 VANGL1
16 cervical spina bifida aperta 10.2 VANGL2 VANGL1
17 lumbosacral spina bifida aperta 10.2 VANGL2 VANGL1
18 thoracolumbosacral spina bifida aperta 10.2 VANGL2 VANGL1
19 upper thoracic spina bifida aperta 10.2 VANGL2 VANGL1
20 total spina bifida cystica 10.2 VANGL2 VANGL1
21 thoracolumbosacral spina bifida cystica 10.2 VANGL2 VANGL1
22 lumbosacral spina bifida cystica 10.2 VANGL2 VANGL1
23 cervical spina bifida cystica 10.2 VANGL2 VANGL1
24 cervicothoracic spina bifida cystica 10.2 VANGL2 VANGL1
25 upper thoracic spina bifida cystica 10.2 VANGL2 VANGL1
26 fallopian tube serous adenocarcinoma 10.2 WNT5A ROR2
27 tetanus 10.2
28 urticaria 10.2
29 papular urticaria 10.2
30 tremor 10.2
31 brachydactyly, type a1, c 10.0 NOG GDF5
32 autosomal dominant robinow syndrome 10.0 WNT5A ROR2 DVL3
33 synostoses, tarsal, carpal, and digital 10.0 NOG GDF5
34 robinow syndrome, autosomal dominant 1 10.0 WNT5A ROR2 DVL3
35 fibular hypoplasia and complex brachydactyly 10.0 NOG GDF5
36 brachydactyly, type a4 9.9 IHH GDF5
37 split-hand/foot malformation 1 9.9
38 stapes ankylosis with broad thumbs and toes 9.9
39 multiple synostoses syndrome 1 9.9
40 nail disorder, nonsyndromic congenital, 9 9.9
41 synostosis 9.9
42 ventricular septal defect 9.9
43 heart septal defect 9.9
44 dwarfism 9.9
45 isolated split hand-split foot malformation 9.9
46 craniorachischisis 9.9 VANGL2 CELSR1
47 sugarman brachydactyly 9.8 NOG IHH GDF5
48 brachydactyly, type a1, b 9.8 NOG IHH GDF5
49 brachydactyly, type a2 9.8 NOG IHH GDF5
50 exostosis 9.8 IHH GDF5

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:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010049
2 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
3 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
4 absent fingernail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001817
5 type b brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0005831
6 2nd-5th toe middle phalangeal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008083
7 aplasia/hypoplasia of the distal phalanges of the hand 31 hallmark (90%) HP:0009835
8 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
9 broad hallux phalanx 58 31 occasional (7.5%) Occasional (29-5%) HP:0010059
10 synostosis of carpal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0005048
11 symphalangism affecting the phalanges of the hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0009773
12 cutaneous finger syndactyly 31 occasional (7.5%) HP:0010554
13 ventricular septal defect 31 HP:0001629
14 broad thumb 31 HP:0011304
15 short long bone 31 HP:0003026
16 micropenis 31 HP:0000054
17 hemivertebrae 31 HP:0002937
18 anonychia 31 HP:0001798
19 wide anterior fontanel 31 HP:0000260
20 vertebral fusion 31 HP:0002948
21 delayed cranial suture closure 31 HP:0000270
22 hypoplastic fingernail 31 HP:0001804
23 camptodactyly 31 HP:0012385
24 syndactyly 31 HP:0001159
25 aplasia/hypoplasia of the distal phalanges of the toes 31 HP:0010185
26 short middle phalanx of finger 31 HP:0005819
27 thoracolumbar scoliosis 31 HP:0002944
28 joint contracture of the hand 31 HP:0009473
29 delayed eruption of permanent teeth 31 HP:0000696
30 hypoplastic sacrum 31 HP:0004590

Symptoms via clinical synopsis from OMIM:

56
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:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.19 CELSR1 DVL3 GDF5 IHH NOG PRICKLE1
2 growth/size/body region MP:0005378 10.18 CELSR1 DVL3 GDF5 IHH NOG PRICKLE1
3 cardiovascular system MP:0005385 10.15 DVL3 IHH NOG PRICKLE1 ROR2 VANGL1
4 cellular MP:0005384 10.14 CELSR1 IHH NOG PRICKLE1 ROR2 VANGL1
5 craniofacial MP:0005382 10.13 CELSR1 DVL3 IHH NOG PRICKLE1 ROR2
6 limbs/digits/tail MP:0005371 10.13 CELSR1 DVL3 GDF5 IHH NOG PRICKLE1
7 mortality/aging MP:0010768 10.1 CELSR1 DVL3 GDF5 IHH NOG PRICKLE1
8 hearing/vestibular/ear MP:0005377 10.06 CELSR1 DVL3 NOG PRICKLE1 ROR2 VANGL1
9 nervous system MP:0003631 10.02 CELSR1 DVL3 IHH NOG PRICKLE1 ROR2
10 digestive/alimentary MP:0005381 9.99 IHH NOG PRICKLE1 ROR2 VANGL2 WNT5A
11 respiratory system MP:0005388 9.81 CELSR1 DVL3 IHH NOG PRICKLE1 ROR2
12 reproductive system MP:0005389 9.8 CELSR1 GDF5 NOG ROR2 VANGL1 VANGL2
13 renal/urinary system MP:0005367 9.72 DVL3 NOG PRICKLE1 VANGL2 WNT5A
14 skeleton MP:0005390 9.65 CELSR1 DVL3 GDF5 IHH NOG PRICKLE1
15 vision/eye MP:0005391 9.17 CELSR1 DVL3 IHH NOG PRICKLE1 ROR2

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:

40
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. 54 61 56 6
19461659 2009
2
Brachydactyly type B1: report of a family with de novo ROR2 mutation. 54 61 56 6
17101003 2006
3
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. 54 61 56 6
10700182 2000
4
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. 61 56 6
10986040 2000
5
A novel subtype of distal symphalangism affecting only the 4th finger. 56 6
19533773 2009
6
ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome. 56 6
12919145 2003
7
Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. 61 56
9973295 1999
8
Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. 61 56
9973296 1999
9
Sorsby syndrome: a report on further generations of the original family. 61 56
3385739 1988
10
A new mutation in the gene ROR2 causes brachydactyly type B1. 61 52
24954533 2014
11
A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B. 61 52
23238279 2013
12
Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development. 56
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. 56
10231392 1999
14
Hereditary brachydactyly with nail dysplasia. 6
641944 1978
15
Mackinder's hereditary brachydactyly: phenotypic, radiological, dermatoglyphic and genetic observations in an Ontario family. 56
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. 56
18169256 1935
17
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. 54 61
19640924 2009
18
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved? 54 61
19236432 2009
19
Pregnancy after preimplantation genetic diagnosis for brachydactyly type B. 54 61
19146779 2009
20
P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes. 54 61
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. 54 61
18353862 2008
22
The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src. 54 61
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. 54 61
17665217 2007
24
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. 54 61
17668388 2007
25
Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. 54 61
17061261 2006
26
[Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B]. 54 61
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? 54 61
11932993 2002
28
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. 54 61
10932186 2000
29
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. 54 61
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. 61
30801848 2019
31
ROR-Family Receptor Tyrosine Kinases. 61
28236965 2017
32
Mutation screening in candidate genes in four Chinese brachydactyly families. 61
25696018 2015
33
Novel domains of expression for orphan receptor tyrosine kinase Ror2 in the human and mouse reproductive system. 61
24753105 2014
34
Wnt signaling through the Ror receptor in the nervous system. 61
23990374 2014
35
Ror2-Src signaling in metastasis of mouse melanoma cells is inhibited by NRAGE. 61
23142633 2012
36
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication. 61
22821638 2012
37
Wnt signaling in development and disease. 61
22520685 2012
38
Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance. 61
22529972 2012
39
Wnt signaling gradients establish planar cell polarity by inducing Vangl2 phosphorylation through Ror2. 61
21316585 2011
40
[Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1]. 61
21377971 2011
41
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. 61
20962035 2011
42
Ror-family receptor tyrosine kinases in noncanonical Wnt signaling: their implications in developmental morphogenesis and human diseases. 61
19530173 2010
43
Wnt-ligand-dependent interaction of TAK1 (TGF-beta-activated kinase-1) with the receptor tyrosine kinase Ror2 modulates canonical Wnt-signalling. 61
18762249 2008
44
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 61
17163524 2007
45
Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome? 61
15996213 2005
46
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. 61
16007612 2005
47
A female with Angelman syndrome and unusual limb deformities. 61
15876517 2005
48
Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2. 61
15569154 2004
49
The receptor tyrosine kinase Ror2 associates with the melanoma-associated antigen (MAGE) family protein Dlxin-1 and regulates its intracellular distribution. 61
12754255 2003
50
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. 61
12815588 2003

Variations for Brachydactyly, Type B1

ClinVar genetic disease variations for Brachydactyly, Type B1:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ROR2 NM_004560.4(ROR2):c.1366dup (p.Leu456fs)duplication Pathogenic 7316 9:94488842-94488843 9:91726560-91726561
2 ROR2 NM_004560.4(ROR2):c.2244del (p.Trp749fs)deletion Pathogenic 7317 rs863223292 9:94486532-94486532 9:91724250-91724250
3 46;XX;ins(2;9)(q24.3;p22.1p24.3)dnTranslocation Pathogenic 268044
4 ROR2 NM_004560.4(ROR2):c.2247G>A (p.Trp749Ter)SNV Pathogenic 7312 rs104894121 9:94486529-94486529 9:91724247-91724247
5 ROR2 NM_004560.4(ROR2):c.1321_1325del (p.Arg441fs)deletion Pathogenic 7311 rs863223290 9:94488884-94488888 9:91726602-91726606
6 ROR2 NM_004560.4(ROR2):c.2249del (p.Gly750fs)deletion Pathogenic 7306 rs863223289 9:94486527-94486527 9:91724245-91724245
7 ROR2 NM_004560.4(ROR2):c.2246G>A (p.Trp749Ter)SNV Pathogenic 7305 rs104894122 9:94486530-94486530 9:91724248-91724248
8 ROR2 NM_004560.4(ROR2):c.2265C>A (p.Tyr755Ter)SNV Pathogenic 7304 rs121909082 9:94486511-94486511 9:91724229-91724229
9 ROR2 NM_004560.4(ROR2):c.1589G>A (p.Arg530Gln)SNV Likely benign 284633 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

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 clathrin-coated endocytic vesicle membrane GO:0030669 8.62 WNT5A ROR2

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.92 WNT5A VANGL2 VANGL1 ROR2 NOG IHH
2 Wnt signaling pathway GO:0016055 9.85 WNT5A ROR2 DVL3
3 skeletal system development GO:0001501 9.84 ROR2 NOG IHH
4 anterior/posterior pattern specification GO:0009952 9.83 WNT5A VANGL2 CELSR1
5 BMP signaling pathway GO:0030509 9.81 ROR2 NOG GDF5
6 inner ear morphogenesis GO:0042472 9.8 WNT5A ROR2 CELSR1
7 wound healing GO:0042060 9.8 WNT5A VANGL2 NOG CELSR1
8 negative regulation of canonical Wnt signaling pathway GO:0090090 9.8 WNT5A ROR2 PRICKLE1 NOG DVL3
9 heart looping GO:0001947 9.79 WNT5A VANGL2 IHH
10 positive regulation of epithelial cell proliferation GO:0050679 9.79 WNT5A NOG IHH
11 cartilage development GO:0051216 9.73 WNT5A NOG IHH GDF5
12 neural tube development GO:0021915 9.69 WNT5A NOG
13 embryonic skeletal system development GO:0048706 9.69 WNT5A NOG
14 non-canonical Wnt signaling pathway GO:0035567 9.69 WNT5A VANGL2 DVL3
15 hair follicle development GO:0001942 9.68 VANGL2 CELSR1
16 epithelial to mesenchymal transition GO:0001837 9.68 WNT5A NOG
17 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.68 WNT5A ROR2
18 cochlea morphogenesis GO:0090103 9.67 WNT5A VANGL2
19 positive regulation of mesenchymal cell proliferation GO:0002053 9.67 WNT5A IHH
20 embryonic digit morphogenesis GO:0042733 9.67 WNT5A ROR2 NOG IHH
21 post-anal tail morphogenesis GO:0036342 9.66 WNT5A VANGL2
22 digestive tract morphogenesis GO:0048546 9.66 WNT5A VANGL2
23 regulation of cellular protein localization GO:1903827 9.65 WNT5A DVL3
24 apical protein localization GO:0045176 9.65 VANGL2 CELSR1
25 somite development GO:0061053 9.65 WNT5A NOG IHH
26 membranous septum morphogenesis GO:0003149 9.64 VANGL2 NOG
27 positive regulation of neuron projection arborization GO:0150012 9.63 WNT5A DVL3
28 positive regulation of protein kinase C activity GO:1900020 9.63 WNT5A ROR2
29 establishment of planar polarity GO:0001736 9.63 WNT5A VANGL2 CELSR1
30 planar cell polarity pathway involved in axon guidance GO:1904938 9.61 WNT5A VANGL2
31 convergent extension involved in organogenesis GO:0060029 9.6 WNT5A VANGL2
32 convergent extension involved in axis elongation GO:0060028 9.59 WNT5A VANGL2
33 notochord morphogenesis GO:0048570 9.58 WNT5A NOG
34 non-canonical Wnt signaling pathway via JNK cascade GO:0038031 9.58 WNT5A DVL3
35 establishment of body hair planar orientation GO:0048105 9.57 VANGL2 CELSR1
36 planar cell polarity pathway involved in axis elongation GO:0003402 9.56 WNT5A VANGL2
37 positive regulation of JUN kinase activity GO:0043507 9.56 WNT5A VANGL2 ROR2 DVL3
38 lateral sprouting involved in lung morphogenesis GO:0060490 9.55 VANGL2 CELSR1
39 neural tube closure GO:0001843 9.55 WNT5A VANGL2 PRICKLE1 NOG CELSR1
40 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.54 VANGL2 CELSR1
41 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.52 VANGL2 CELSR1
42 planar cell polarity pathway involved in neural tube closure GO:0090179 9.26 WNT5A VANGL2 DVL3 CELSR1
43 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.17 WNT5A VANGL2 VANGL1 ROR2 PRICKLE1 DVL3

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 8.8 WNT5A ROR2 DVL3

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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