MCID: RBN002
MIFTS: 47

Robinow Syndrome

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

Aliases & Classifications for Robinow Syndrome

MalaCards integrated aliases for Robinow Syndrome:

Name: Robinow Syndrome 12 76 53 25 59 37 29 55 6 15
Acral Dysostosis with Facial and Genital Abnormalities 12 53 25 59
Fetal Face Syndrome 12 53 25 59
Robinow Dwarfism 12 53 25 59
Mesomelic Dwarfism-Small Genitalia Syndrome 25 59
Robinow-Silverman-Smith Syndrome 25 59
Robinow Syndrome, Autosomal Dominant 44
Robinow-Silverman Syndrome 25
Robinow's Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
robinow syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060254
ICD10 33 Q87.1
MeSH 44 C562492
NCIt 50 C85048
SNOMED-CT 68 76520005
Orphanet 59 ORPHA97360
UMLS via Orphanet 74 C0265205
ICD10 via Orphanet 34 Q87.1
KEGG 37 H00485
UMLS 73 C0265205

Summaries for Robinow Syndrome

NIH Rare Diseases : 53 Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity. Autosomal recessive Robinow syndrome causes shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones leading to kyphoscoliosis; fused or missing ribs; short stature; and distinctive facial features. Other features may include underdeveloped genitalia; dental problems; kidney or heart defects; or delayed development. This form is caused by mutations in the ROR2 gene.Autosomal dominant Robinow syndrome causes more mild, but similar, features. There are rarely spine and rib abnormalities, and short stature is less severe. A variant type of this form is additionally characterized by osteosclerosis. Autosomal dominant Robinow syndrome may be caused by a mutation in the WNT5A or DVL1 gene. In some cases, the underlying cause of Robinow syndrome is unknown. Management may include bracing or surgery for skeletal abnormalities and growth hormone to increase growth rate in affected children.

MalaCards based summary : Robinow Syndrome, also known as acral dysostosis with facial and genital abnormalities, is related to robinow syndrome, autosomal dominant 1 and autosomal dominant robinow syndrome. An important gene associated with Robinow Syndrome is WNT5A (Wnt Family Member 5A), and among its related pathways/superpathways are Wnt signaling pathway and Pathways in cancer. The drugs Pembrolizumab and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and kidney, and related phenotypes are growth/size/body region and limbs/digits/tail

Genetics Home Reference : 25 Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the skeleton. The types of Robinow syndrome can be distinguished by the severity of their signs and symptoms and by their pattern of inheritance: autosomal recessive or autosomal dominant.

Disease Ontology : 12 A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.

Wikipedia : 76 Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism,... more...

Related Diseases for Robinow Syndrome

Diseases in the Robinow Syndrome family:

Robinow Syndrome, Autosomal Dominant 1 Robinow Syndrome, Autosomal Recessive
Robinow Syndrome, Autosomal Dominant 2 Robinow Syndrome, Autosomal Dominant 3
Autosomal Dominant Robinow Syndrome Ror2-Related Robinow Syndrome
Robinow-Like Syndrome

Diseases related to Robinow Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 robinow syndrome, autosomal dominant 1 34.6 DVL3 WNT5A
2 autosomal dominant robinow syndrome 33.9 DVL1 DVL3 ROR2 WNT5A
3 robinow syndrome, autosomal recessive 30.6 BCL2A1 HPSE INHA LMBR1 MRRF PLEKHG4
4 robinow syndrome, autosomal dominant 3 12.3
5 robinow syndrome, autosomal dominant 2 12.3
6 ror2-related robinow syndrome 12.0
7 robinow-like syndrome 10.9
8 pituitary infarct 10.8 GNRH1 IGF1
9 central precocious puberty 10.7 GNRH1 IGF1
10 anovulation 10.6 CGA GNRH1 IGF1
11 ovarian disease 10.5 CGA GNRH1 IGF1
12 israeli tick typhus 10.5 HPSE PLEKHG4
13 amelogenesis imperfecta, type ig 10.4 LMBR1 PTCHD3
14 empty sella syndrome 10.4 GNRH1 IGF1
15 penis agenesis 10.2 CGA GNRH1
16 brachydactyly 10.2
17 brachydactyly, type b1 10.1
18 heart disease 10.0
19 dwarfism 10.0
20 pfeiffer syndrome 9.8
21 omodysplasia 2 9.8
22 omodysplasia 9.8
23 inguinal hernia 9.8
24 respiratory failure 9.8
25 hyperostosis 9.8
26 vaginitis 9.8
27 cockayne syndrome 9.8
28 cystic kidney disease 9.8
29 laryngitis 9.8
30 kidney disease 9.8
31 growth hormone deficiency 9.8
32 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 9.8
33 vaginal atresia 9.8

Graphical network of the top 20 diseases related to Robinow Syndrome:



Diseases related to Robinow Syndrome

Symptoms & Phenotypes for Robinow Syndrome

MGI Mouse Phenotypes related to Robinow Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.9 ATP8A1 CGA DVL3 GNRH1 IGF1 INHA
2 limbs/digits/tail MP:0005371 9.5 DVL3 HPSE IGF1 LMBR1 ROR2 TWIST1
3 skeleton MP:0005390 9.32 INHA LMBR1 ROR2 TWIST1 WNT5A DVL1

Drugs & Therapeutics for Robinow Syndrome

Drugs for Robinow Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pembrolizumab Approved Phase 3 1374853-91-4
2 Pharmaceutical Solutions Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy Study of Pembrolizumab (MK-3475) as Monotherapy in the Adjuvant Treatment of Renal Cell Carcinoma Post Nephrectomy (MK-3475-564/KEYNOTE-564) Recruiting NCT03142334 Phase 3 Placebo (saline solution)

Search NIH Clinical Center for Robinow Syndrome

Cochrane evidence based reviews: robinow syndrome, autosomal dominant

Genetic Tests for Robinow Syndrome

Genetic tests related to Robinow Syndrome:

# Genetic test Affiliating Genes
1 Robinow Syndrome 29 DVL1 WNT5A

Anatomical Context for Robinow Syndrome

MalaCards organs/tissues related to Robinow Syndrome:

41
Bone, Heart, Kidney, Testes, Brain

Publications for Robinow Syndrome

Articles related to Robinow Syndrome:

(show top 50) (show all 103)
# Title Authors Year
1
Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome. ( 29575631 )
2018
2
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation. ( 29575616 )
2018
3
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. ( 29276006 )
2018
4
Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes. ( 29383834 )
2018
5
Robinow syndrome: a diagnosis at the fingertips. ( 29864040 )
2018
6
Surgical Management of Facial Features of Robinow Syndrome: A Case Report. ( 29610615 )
2018
7
Robinow Syndrome and Fusion of Primary Teeth. ( 29042739 )
2017
8
Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound. ( 28680597 )
2017
9
Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome. ( 28662348 )
2017
10
Dental management and orofacial manifestations of a patient with Robinow Syndrome. ( 28955595 )
2017
11
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. ( 26924530 )
2016
12
A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome. ( 27092434 )
2016
13
Robinow Syndrome: A Rare Case Report and Review of Literature. ( 26379386 )
2015
14
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations. ( 26284319 )
2015
15
Vertebral anomalies accompanying Robinow syndrome. ( 26674440 )
2015
16
Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome. ( 25817014 )
2015
17
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome. ( 25817016 )
2015
18
Robinow Syndrome: A Rare Diagnosis. ( 26816964 )
2015
19
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. ( 24716670 )
2014
20
Respiratory failure in Robinow syndrome was treated with non-invasive mechanical ventilation for the first time. ( 25581697 )
2014
21
Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome. ( 24932600 )
2014
22
Null and hypomorph Prickle1 alleles in mice phenocopy human Robinow syndrome and disrupt signaling downstream of Wnt5a. ( 25190059 )
2014
23
An osteosclerotic form of Robinow syndrome. ( 25045061 )
2014
24
Prenatal diagnosis of robinow syndrome: A case report. ( 24151023 )
2013
25
RYK is not mutated in autosomal dominant Robinow syndrome. ( 23355721 )
2013
26
Reply to Mazzeu: Human mutations in RYK might cause Robinow syndrome. ( 23472253 )
2013
27
Wnt signalling in testicular descent: a candidate mechanism for cryptorchidism in Robinow syndrome. ( 23895974 )
2013
28
Bilateral conductive hearing impairment with hyperostosis of the temporal bone: a new finding in Robinow syndrome. ( 22431878 )
2012
29
Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome. ( 22178368 )
2012
30
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. ( 20962035 )
2011
31
Craniofacial and intraoral phenotype of Robinow syndrome forms. ( 21496006 )
2011
32
Robinow syndrome, Cockayne syndrome, and Pfeiffer syndrome: an overview of physical, neurological, and oral characteristics. ( 20129888 )
2010
33
WNT5A mutations in patients with autosomal dominant Robinow syndrome. ( 19918918 )
2010
34
Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome. ( 20095987 )
2010
35
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. ( 19640924 )
2009
36
A case report on autosomal recessive Robinow syndrome. ( 19761290 )
2009
37
Identification of an association between Robinow syndrome and moyamoya. ( 19258733 )
2009
38
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. ( 18831060 )
2008
39
Autosomal recessive Robinow syndrome: a case report. ( 18505648 )
2008
40
Robinow syndrome. ( 19753239 )
2008
41
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. ( 18353862 )
2008
42
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. ( 17256787 )
2007
43
Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome. ( 17603805 )
2007
44
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum. ( 17665217 )
2007
45
Robinow syndrome: report of two cases and review of the literature. ( 17217496 )
2007
46
Prenatal and postnatal findings in a case with the autosomal recessive type of Robinow syndrome. ( 16757917 )
2006
47
Robinow syndrome with variable neurologic features. ( 16418601 )
2006
48
Laryngeal mask airway and the Robinow syndrome. ( 16407809 )
2006
49
Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. ( 17061261 )
2006
50
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. ( 15952209 )
2005

Variations for Robinow Syndrome

ClinVar genetic disease variations for Robinow Syndrome:

6
(show top 50) (show all 354)
# Gene Variation Type Significance SNP ID Assembly Location
1 WNT5A NM_003392.4(WNT5A): c.544T> C (p.Cys182Arg) single nucleotide variant Pathogenic rs387906663 GRCh37 Chromosome 3, 55508505: 55508505
2 WNT5A NM_003392.4(WNT5A): c.544T> C (p.Cys182Arg) single nucleotide variant Pathogenic rs387906663 GRCh38 Chromosome 3, 55474477: 55474477
3 WNT5A NM_003392.4(WNT5A): c.248G> C (p.Cys83Ser) single nucleotide variant Pathogenic rs786200925 GRCh38 Chromosome 3, 55479457: 55479457
4 WNT5A NM_003392.4(WNT5A): c.248G> C (p.Cys83Ser) single nucleotide variant Pathogenic rs786200925 GRCh37 Chromosome 3, 55513485: 55513485
5 WNT5A NM_003392.4(WNT5A): c.487G> C (p.Gly163Arg) single nucleotide variant Likely pathogenic rs587784562 GRCh37 Chromosome 3, 55508562: 55508562
6 WNT5A NM_003392.4(WNT5A): c.487G> C (p.Gly163Arg) single nucleotide variant Likely pathogenic rs587784562 GRCh38 Chromosome 3, 55474534: 55474534
7 WNT5A NM_003392.4(WNT5A): c.405G> T (p.Thr135=) single nucleotide variant Benign rs147104982 GRCh37 Chromosome 3, 55508644: 55508644
8 WNT5A NM_003392.4(WNT5A): c.405G> T (p.Thr135=) single nucleotide variant Benign rs147104982 GRCh38 Chromosome 3, 55474616: 55474616
9 WNT5A NM_003392.4(WNT5A): c.391+11A> G single nucleotide variant Uncertain significance rs6790979 GRCh37 Chromosome 3, 55513331: 55513331
10 WNT5A NM_003392.4(WNT5A): c.391+11A> G single nucleotide variant Uncertain significance rs6790979 GRCh38 Chromosome 3, 55479303: 55479303
11 WNT5A NM_003392.4(WNT5A): c.141-8C> G single nucleotide variant Uncertain significance rs188798140 GRCh37 Chromosome 3, 55513600: 55513600
12 WNT5A NM_003392.4(WNT5A): c.141-8C> G single nucleotide variant Uncertain significance rs188798140 GRCh38 Chromosome 3, 55479572: 55479572
13 WNT5A NM_003392.4(WNT5A): c.141-9C> T single nucleotide variant Uncertain significance rs181894008 GRCh37 Chromosome 3, 55513601: 55513601
14 WNT5A NM_003392.4(WNT5A): c.141-9C> T single nucleotide variant Uncertain significance rs181894008 GRCh38 Chromosome 3, 55479573: 55479573
15 WNT5A NM_003392.4(WNT5A): c.141-9C> G single nucleotide variant Conflicting interpretations of pathogenicity rs181894008 GRCh37 Chromosome 3, 55513601: 55513601
16 WNT5A NM_003392.4(WNT5A): c.141-9C> G single nucleotide variant Conflicting interpretations of pathogenicity rs181894008 GRCh38 Chromosome 3, 55479573: 55479573
17 WNT5A NM_003392.4(WNT5A): c.140+14A> G single nucleotide variant Uncertain significance rs139616809 GRCh37 Chromosome 3, 55514799: 55514799
18 WNT5A NM_003392.4(WNT5A): c.140+14A> G single nucleotide variant Uncertain significance rs139616809 GRCh38 Chromosome 3, 55480771: 55480771
19 ROR2 NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41277835 GRCh37 Chromosome 9, 94485971: 94485971
20 ROR2 NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41277835 GRCh38 Chromosome 9, 91723689: 91723689
21 ROR2 NM_004560.3(ROR2): c.2455G> A (p.Val819Ile) single nucleotide variant Benign rs10761129 GRCh37 Chromosome 9, 94486321: 94486321
22 ROR2 NM_004560.3(ROR2): c.2455G> A (p.Val819Ile) single nucleotide variant Benign rs10761129 GRCh38 Chromosome 9, 91724039: 91724039
23 ROR2 NM_004560.3(ROR2): c.2285C> T (p.Ser762Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34491822 GRCh37 Chromosome 9, 94486491: 94486491
24 ROR2 NM_004560.3(ROR2): c.2285C> T (p.Ser762Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34491822 GRCh38 Chromosome 9, 91724209: 91724209
25 ROR2 NM_004560.3(ROR2): c.2154C> T (p.Pro718=) single nucleotide variant Benign rs2230577 GRCh37 Chromosome 9, 94486622: 94486622
26 ROR2 NM_004560.3(ROR2): c.2154C> T (p.Pro718=) single nucleotide variant Benign rs2230577 GRCh38 Chromosome 9, 91724340: 91724340
27 ROR2 NM_004560.3(ROR2): c.2088C> T (p.Tyr696=) single nucleotide variant Benign rs10992063 GRCh37 Chromosome 9, 94486688: 94486688
28 ROR2 NM_004560.3(ROR2): c.2088C> T (p.Tyr696=) single nucleotide variant Benign rs10992063 GRCh38 Chromosome 9, 91724406: 91724406
29 ROR2 NM_004560.3(ROR2): c.2083G> A (p.Gly695Arg) single nucleotide variant Benign rs34431454 GRCh37 Chromosome 9, 94486693: 94486693
30 ROR2 NM_004560.3(ROR2): c.2083G> A (p.Gly695Arg) single nucleotide variant Benign rs34431454 GRCh38 Chromosome 9, 91724411: 91724411
31 ROR2 NM_004560.3(ROR2): c.1959G> A (p.Leu653=) single nucleotide variant Conflicting interpretations of pathogenicity rs144549032 GRCh37 Chromosome 9, 94486817: 94486817
32 ROR2 NM_004560.3(ROR2): c.1959G> A (p.Leu653=) single nucleotide variant Conflicting interpretations of pathogenicity rs144549032 GRCh38 Chromosome 9, 91724535: 91724535
33 ROR2 NM_004560.3(ROR2): c.1710G> A (p.Pro570=) single nucleotide variant Benign/Likely benign rs41277837 GRCh37 Chromosome 9, 94487066: 94487066
34 ROR2 NM_004560.3(ROR2): c.1710G> A (p.Pro570=) single nucleotide variant Benign/Likely benign rs41277837 GRCh38 Chromosome 9, 91724784: 91724784
35 ROR2 NM_004560.3(ROR2): c.1045C> G (p.His349Asp) single nucleotide variant Benign rs55983376 GRCh37 Chromosome 9, 94493330: 94493330
36 ROR2 NM_004560.3(ROR2): c.1045C> G (p.His349Asp) single nucleotide variant Benign rs55983376 GRCh38 Chromosome 9, 91731048: 91731048
37 ROR2 NM_004560.3(ROR2): c.986G> A (p.Ser329Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371221714 GRCh37 Chromosome 9, 94493389: 94493389
38 ROR2 NM_004560.3(ROR2): c.986G> A (p.Ser329Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371221714 GRCh38 Chromosome 9, 91731107: 91731107
39 ROR2 NM_004560.3(ROR2): c.733A> G (p.Thr245Ala) single nucleotide variant Benign rs10820900 GRCh37 Chromosome 9, 94495608: 94495608
40 ROR2 NM_004560.3(ROR2): c.733A> G (p.Thr245Ala) single nucleotide variant Benign rs10820900 GRCh38 Chromosome 9, 91733326: 91733326
41 ROR2 NM_004560.3(ROR2): c.498T> C (p.Asp166=) single nucleotide variant Benign rs16907720 GRCh37 Chromosome 9, 94499797: 94499797
42 ROR2 NM_004560.3(ROR2): c.498T> C (p.Asp166=) single nucleotide variant Benign rs16907720 GRCh38 Chromosome 9, 91737515: 91737515
43 ROR2 NM_004560.3(ROR2): c.98-15G> C single nucleotide variant Benign rs7863557 GRCh37 Chromosome 9, 94538115: 94538115
44 ROR2 NM_004560.3(ROR2): c.98-15G> C single nucleotide variant Benign rs7863557 GRCh38 Chromosome 9, 91775833: 91775833
45 ROR2 NM_004560.3(ROR2): c.75G> A (p.Leu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs148237260 GRCh37 Chromosome 9, 94712171: 94712171
46 ROR2 NM_004560.3(ROR2): c.75G> A (p.Leu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs148237260 GRCh38 Chromosome 9, 91949889: 91949889
47 WNT5A NM_003392.4(WNT5A): c.545G> C (p.Cys182Ser) single nucleotide variant Pathogenic rs869312850 GRCh38 Chromosome 3, 55474476: 55474476
48 WNT5A NM_003392.4(WNT5A): c.545G> C (p.Cys182Ser) single nucleotide variant Pathogenic rs869312850 GRCh37 Chromosome 3, 55508504: 55508504
49 WNT5A NM_003392.4(WNT5A): c.257A> G (p.Tyr86Cys) single nucleotide variant Pathogenic rs786204836 GRCh38 Chromosome 3, 55479448: 55479448
50 WNT5A NM_003392.4(WNT5A): c.257A> G (p.Tyr86Cys) single nucleotide variant Pathogenic rs786204836 GRCh37 Chromosome 3, 55513476: 55513476

Expression for Robinow Syndrome

Search GEO for disease gene expression data for Robinow Syndrome.

Pathways for Robinow Syndrome

Pathways related to Robinow Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

GO Terms for Robinow Syndrome

Biological processes related to Robinow Syndrome according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.99 DVL1 DVL3 IGF1 ROR2 WNT5A
2 regulation of signaling receptor activity GO:0010469 9.95 CGA GNRH1 IGF1 INHA WNT5A
3 negative regulation of apoptotic process GO:0043066 9.91 BCL2A1 GNRH1 IGF1 ROR2 TWIST1 WNT5A
4 Wnt signaling pathway GO:0016055 9.86 DVL1 DVL3 ROR2 WNT5A
5 positive regulation of cell migration GO:0030335 9.84 ATP8A1 CGA IGF1 ROR2
6 negative regulation of canonical Wnt signaling pathway GO:0090090 9.8 DVL1 DVL3 ROR2 WNT5A
7 canonical Wnt signaling pathway GO:0060070 9.75 DVL1 DVL3 WNT5A
8 positive regulation of epithelial cell proliferation GO:0050679 9.7 IGF1 TWIST1 WNT5A
9 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.62 DVL1 DVL3 ROR2 WNT5A
10 beta-catenin destruction complex disassembly GO:1904886 9.6 DVL1 DVL3
11 positive regulation of transcription regulatory region DNA binding GO:2000679 9.58 IGF1 TWIST1
12 positive regulation of JUN kinase activity GO:0043507 9.58 DVL3 ROR2 WNT5A
13 presynapse assembly GO:0099054 9.57 DVL1 WNT5A
14 non-canonical Wnt signaling pathway GO:0035567 9.54 DVL1 DVL3 WNT5A
15 positive regulation of protein kinase C activity GO:1900020 9.51 ROR2 WNT5A
16 non-canonical Wnt signaling pathway via JNK cascade GO:0038031 9.48 DVL3 WNT5A
17 convergent extension involved in organogenesis GO:0060029 9.46 DVL1 WNT5A
18 embryonic digit morphogenesis GO:0042733 9.46 LMBR1 ROR2 TWIST1 WNT5A
19 regulation of cellular protein localization GO:1903827 9.43 DVL1 DVL3 WNT5A
20 planar cell polarity pathway involved in neural tube closure GO:0090179 9.13 DVL1 DVL3 WNT5A
21 positive regulation of neuron projection arborization GO:0150012 8.8 DVL1 DVL3 WNT5A

Molecular functions related to Robinow Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.26 CGA GNRH1 IGF1 INHA
2 frizzled binding GO:0005109 8.92 DVL1 DVL3 ROR2 WNT5A

Sources for Robinow Syndrome

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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