MCID: ATS082
MIFTS: 29

Autosomal Dominant Robinow Syndrome

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

Aliases & Classifications for Autosomal Dominant Robinow Syndrome

MalaCards integrated aliases for Autosomal Dominant Robinow Syndrome:

Name: Autosomal Dominant Robinow Syndrome 23 56
Robinow Syndrome, Autosomal Dominant 13
Fetal Face Syndrome 23

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant robinow syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

GeneReviews:

23
Penetrance Penetrance appears to be complete with no difference between males and females. all cases presented with features noticeable at birth or in early childhood...

Classifications:



External Ids:

Orphanet 56 ORPHA3107
UMLS via Orphanet 70 C0265205
ICD10 via Orphanet 34 Q87.1

Summaries for Autosomal Dominant Robinow Syndrome

MalaCards based summary : Autosomal Dominant Robinow Syndrome, also known as robinow syndrome, autosomal dominant, is related to robinow syndrome and robinow syndrome, autosomal dominant 1. An important gene associated with Autosomal Dominant Robinow Syndrome is WNT5A (Wnt Family Member 5A), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Signaling by Wnt. Affiliated tissues include bone, and related phenotypes are cardiovascular system and embryo

GeneReviews: NBK268648

Related Diseases for Autosomal Dominant Robinow Syndrome

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



Diseases related to Autosomal Dominant Robinow Syndrome

Symptoms & Phenotypes for Autosomal Dominant Robinow Syndrome

MGI Mouse Phenotypes related to Autosomal Dominant Robinow Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.71 DVL1 DVL3 ROR2 WNT5A
2 embryo MP:0005380 9.62 DVL1 DVL3 ROR2 WNT5A
3 hearing/vestibular/ear MP:0005377 9.56 DVL1 DVL3 ROR2 WNT5A
4 craniofacial MP:0005382 9.54 DVL3 ROR2 WNT5A
5 limbs/digits/tail MP:0005371 9.33 DVL3 ROR2 WNT5A
6 nervous system MP:0003631 9.26 DVL1 DVL3 ROR2 WNT5A
7 skeleton MP:0005390 8.92 DVL1 DVL3 ROR2 WNT5A

Drugs & Therapeutics for Autosomal Dominant Robinow Syndrome

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Robinow Syndrome

Genetic Tests for Autosomal Dominant Robinow Syndrome

Anatomical Context for Autosomal Dominant Robinow Syndrome

MalaCards organs/tissues related to Autosomal Dominant Robinow Syndrome:

39
Bone

Publications for Autosomal Dominant Robinow Syndrome

Articles related to Autosomal Dominant Robinow Syndrome:

id Title Authors Year
1
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. ( 26924530 )
2016
2
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome. ( 25817016 )
2015
3
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. ( 24716670 )
2014
4
RYK is not mutated in autosomal dominant Robinow syndrome. ( 23355721 )
2013
5
Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome. ( 20095987 )
2010
6
WNT5A mutations in patients with autosomal dominant Robinow syndrome. ( 19918918 )
2010
7
Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome. ( 17603805 )
2007
8
Autosomal Dominant Robinow Syndrome ( 25577943 )
1993

Variations for Autosomal Dominant Robinow Syndrome

Expression for Autosomal Dominant Robinow Syndrome

Search GEO for disease gene expression data for Autosomal Dominant Robinow Syndrome.

Pathways for Autosomal Dominant Robinow Syndrome

Pathways related to Autosomal Dominant Robinow Syndrome according to GeneCards Suite gene sharing:

(show all 23)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 DVL1 ROR2 WNT5A
2
Show member pathways
12.43 DVL1 DVL3 ROR2 WNT5A
3 12.32 DVL1 DVL3 WNT5A
4 12.27 DVL1 DVL3 WNT5A
5
Show member pathways
12.17 DVL1 DVL3 WNT5A
6
Show member pathways
12.11 DVL1 DVL3 WNT5A
7 12.09 DVL1 DVL3 WNT5A
8
Show member pathways
12.06 DVL1 DVL3 ROR2 WNT5A
9 11.86 DVL3 WNT5A
10 11.84 DVL1 DVL3 WNT5A
11 11.82 DVL1 WNT5A
12
Show member pathways
11.81 DVL1 DVL3 ROR2 WNT5A
13
Show member pathways
11.8 DVL1 DVL3 WNT5A
14
Show member pathways
11.79 DVL1 WNT5A
15 11.75 DVL1 DVL3 WNT5A
16 11.73 DVL1 WNT5A
17 11.64 DVL1 DVL3 WNT5A
18 11.58 DVL1 DVL3
19
Show member pathways
11.49 DVL1 DVL3 ROR2 WNT5A
20 11.22 DVL1 DVL3 ROR2
21 10.98 ROR2 WNT5A
22
Show member pathways
10.7 DVL1 DVL3
23 10.4 DVL1 DVL3 ROR2 WNT5A

GO Terms for Autosomal Dominant Robinow Syndrome

Cellular components related to Autosomal Dominant Robinow Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 clathrin-coated endocytic vesicle membrane GO:0030669 8.62 ROR2 WNT5A

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

(show all 29)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.87 DVL1 DVL3 ROR2 WNT5A
2 positive regulation of transcription, DNA-templated GO:0045893 9.8 DVL1 DVL3 ROR2 WNT5A
3 positive regulation of protein phosphorylation GO:0001934 9.71 DVL1 DVL3 WNT5A
4 positive regulation of canonical Wnt signaling pathway GO:0090263 9.69 DVL1 ROR2 WNT5A
5 axon guidance GO:0007411 9.64 DVL1 WNT5A
6 protein stabilization GO:0050821 9.64 DVL1 DVL3
7 axonogenesis GO:0007409 9.63 DVL1 WNT5A
8 positive regulation of neuron projection development GO:0010976 9.63 DVL1 WNT5A
9 inner ear morphogenesis GO:0042472 9.62 ROR2 WNT5A
10 embryonic digit morphogenesis GO:0042733 9.62 ROR2 WNT5A
11 Wnt signaling pathway GO:0016055 9.62 DVL1 DVL3 ROR2 WNT5A
12 cell fate commitment GO:0045165 9.61 ROR2 WNT5A
13 JNK cascade GO:0007254 9.61 ROR2 WNT5A
14 somitogenesis GO:0001756 9.6 ROR2 WNT5A
15 neural tube development GO:0021915 9.59 DVL1 WNT5A
16 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.58 ROR2 WNT5A
17 cochlea morphogenesis GO:0090103 9.58 DVL1 WNT5A
18 canonical Wnt signaling pathway GO:0060070 9.58 DVL1 DVL3 WNT5A
19 beta-catenin destruction complex disassembly GO:1904886 9.56 DVL1 DVL3
20 negative regulation of canonical Wnt signaling pathway GO:0090090 9.56 DVL1 DVL3 ROR2 WNT5A
21 non-canonical Wnt signaling pathway GO:0035567 9.55 DVL3 WNT5A
22 positive regulation of JUN kinase activity GO:0043507 9.54 DVL3 ROR2 WNT5A
23 presynapse assembly GO:0099054 9.52 DVL1 WNT5A
24 convergent extension involved in organogenesis GO:0060029 9.48 DVL1 WNT5A
25 non-canonical Wnt signaling pathway via JNK cascade GO:0038031 9.46 DVL3 WNT5A
26 positive regulation of protein kinase C activity GO:1900020 9.43 ROR2 WNT5A
27 planar cell polarity pathway involved in neural tube closure GO:0090179 9.33 DVL1 DVL3 WNT5A
28 regulation of cellular protein localization GO:1903827 9.13 DVL1 DVL3 WNT5A
29 Wnt signaling pathway, planar cell polarity pathway GO:0060071 8.92 DVL1 DVL3 ROR2 WNT5A

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

id Name GO ID Score Top Affiliating Genes
1 beta-catenin binding GO:0008013 9.16 DVL1 DVL3
2 Rac GTPase binding GO:0048365 8.96 DVL1 DVL3
3 frizzled binding GO:0005109 8.92 DVL1 DVL3 ROR2 WNT5A

Sources for Autosomal Dominant Robinow Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....