MCID: ATS082
MIFTS: 45

Autosomal Dominant Robinow Syndrome

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases

Aliases & Classifications for Autosomal Dominant Robinow Syndrome

MalaCards integrated aliases for Autosomal Dominant Robinow Syndrome:

Name: Autosomal Dominant Robinow Syndrome 25 60
Robinow Syndrome, Autosomal Dominant 13 41
Fetal Face Syndrome 25

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant robinow syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



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, autosomal dominant 2 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 Signaling by GPCR and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include bone and tongue, and related phenotypes are hypertelorism and wide nasal bridge

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

Human phenotypes related to Autosomal Dominant Robinow Syndrome:

60 33 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
3 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
4 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
5 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
6 short palm 60 33 hallmark (90%) Very frequent (99-80%) HP:0004279
7 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
8 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736
9 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011800
10 wide nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000445
11 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
12 pectus excavatum 60 33 frequent (33%) Frequent (79-30%) HP:0000767
13 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
14 gingival overgrowth 60 33 frequent (33%) Frequent (79-30%) HP:0000212
15 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
16 open bite 60 33 frequent (33%) Frequent (79-30%) HP:0010807
17 umbilical hernia 60 33 frequent (33%) Frequent (79-30%) HP:0001537
18 prominent forehead 60 33 frequent (33%) Frequent (79-30%) HP:0011220
19 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
20 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
21 retrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000278
22 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
23 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
24 high, narrow palate 60 33 frequent (33%) Frequent (79-30%) HP:0002705
25 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
26 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
27 downturned corners of mouth 60 33 frequent (33%) Frequent (79-30%) HP:0002714
28 severe short stature 60 33 frequent (33%) Frequent (79-30%) HP:0003510
29 long palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000637
30 curly eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0007665
31 proptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000520
32 long eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0000527
33 hemivertebrae 60 33 frequent (33%) Frequent (79-30%) HP:0002937
34 hypoplastic labia majora 60 33 frequent (33%) Frequent (79-30%) HP:0000059
35 median cleft lip and palate 60 33 frequent (33%) Frequent (79-30%) HP:0008501
36 bifid tongue 60 33 frequent (33%) Frequent (79-30%) HP:0010297
37 euryblepharon 60 33 frequent (33%) Frequent (79-30%) HP:0012905
38 clitoral hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000060
39 hypoplastic labia minora 60 33 frequent (33%) Frequent (79-30%) HP:0000064
40 low-set ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000369
41 short neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000470
42 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
43 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
44 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
45 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
46 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
47 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
48 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
49 hip dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001385
50 pectus carinatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000768

MGI Mouse Phenotypes related to Autosomal Dominant Robinow Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 DVL1 DVL3 FZD2 ROR2 WNT5A
2 embryo MP:0005380 9.72 DVL1 DVL3 FZD2 ROR2 WNT5A
3 craniofacial MP:0005382 9.67 DVL3 FZD2 ROR2 WNT5A
4 hearing/vestibular/ear MP:0005377 9.65 DVL1 DVL3 FZD2 ROR2 WNT5A
5 mortality/aging MP:0010768 9.55 DVL1 DVL3 FZD2 ROR2 WNT5A
6 nervous system MP:0003631 9.35 DVL1 DVL3 FZD2 ROR2 WNT5A
7 skeleton MP:0005390 9.02 DVL1 DVL3 FZD2 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:

42
Bone, Tongue

Publications for Autosomal Dominant Robinow Syndrome

Articles related to Autosomal Dominant Robinow Syndrome:

# Title Authors Year
1
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation. ( 29575616 )
2018
2
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. ( 26924530 )
2016
3
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome. ( 25817016 )
2015
4
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. ( 24716670 )
2014
5
RYK is not mutated in autosomal dominant Robinow syndrome. ( 23355721 )
2013
6
WNT5A mutations in patients with autosomal dominant Robinow syndrome. ( 19918918 )
2010
7
Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome. ( 20095987 )
2010
8
Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome. ( 17603805 )
2007
9
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 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 DVL1 DVL3 FZD2 ROR2 WNT5A
2
Show member pathways
12.96 DVL1 FZD2 ROR2 WNT5A
3
Show member pathways
12.7 DVL1 DVL3 FZD2 WNT5A
4 12.55 DVL1 DVL3 FZD2 WNT5A
5
Show member pathways
12.48 DVL1 DVL3 FZD2 WNT5A
6
Show member pathways
12.48 DVL1 DVL3 FZD2 ROR2 WNT5A
7
Show member pathways
12.24 DVL1 DVL3 FZD2 WNT5A
8
Show member pathways
12.22 DVL1 FZD2 WNT5A
9 12.17 DVL1 FZD2 WNT5A
10
Show member pathways
12.16 DVL1 DVL3 FZD2 WNT5A
11 12.1 DVL1 DVL3 FZD2 WNT5A
12 11.97 DVL1 FZD2 WNT5A
13
Show member pathways
11.94 DVL1 FZD2 WNT5A
14 11.89 DVL1 DVL3 FZD2 WNT5A
15 11.88 DVL1 FZD2 WNT5A
16 11.77 DVL1 DVL3 WNT5A
17 11.72 DVL1 FZD2
18
Show member pathways
11.72 DVL1 FZD2 WNT5A
19
Show member pathways
11.72 DVL1 DVL3 FZD2 WNT5A
20 11.65 DVL1 FZD2
21 11.64 DVL1 DVL3
22 11.6 DVL1 DVL3 FZD2 WNT5A
23
Show member pathways
11.6 DVL1 DVL3 FZD2 ROR2 WNT5A
24 11.46 DVL1 FZD2
25 11.4 FZD2 WNT5A
26 11.4 DVL1 DVL3 ROR2
27 11.33 DVL1 FZD2
28 11.06 FZD2 ROR2 WNT5A
29
Show member pathways
10.79 DVL1 DVL3
30 10.5 DVL1 DVL3 FZD2 ROR2 WNT5A

GO Terms for Autosomal Dominant Robinow Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 clathrin-coated endocytic vesicle membrane GO:0030669 8.8 FZD2 ROR2 WNT5A

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.95 DVL1 DVL3 FZD2 ROR2 WNT5A
2 positive regulation of transcription, DNA-templated GO:0045893 9.88 DVL1 DVL3 FZD2 ROR2 WNT5A
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.73 DVL1 DVL3 ROR2 WNT5A
4 positive regulation of JUN kinase activity GO:0043507 9.71 DVL3 ROR2 WNT5A
5 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.7 FZD2 ROR2 WNT5A
6 positive regulation of protein phosphorylation GO:0001934 9.69 DVL1 DVL3 WNT5A
7 cochlea morphogenesis GO:0090103 9.67 DVL1 FZD2 WNT5A
8 canonical Wnt signaling pathway GO:0060070 9.67 DVL1 DVL3 FZD2 WNT5A
9 Wnt signaling pathway GO:0016055 9.65 DVL1 DVL3 FZD2 ROR2 WNT5A
10 neuron differentiation GO:0030182 9.64 FZD2 WNT5A
11 positive regulation of neuron projection development GO:0010976 9.64 DVL1 WNT5A
12 axonogenesis GO:0007409 9.63 DVL1 WNT5A
13 cell fate commitment GO:0045165 9.63 ROR2 WNT5A
14 beta-catenin destruction complex disassembly GO:1904886 9.63 DVL1 DVL3 FZD2
15 inner ear morphogenesis GO:0042472 9.62 ROR2 WNT5A
16 embryonic digit morphogenesis GO:0042733 9.62 ROR2 WNT5A
17 somitogenesis GO:0001756 9.61 ROR2 WNT5A
18 JNK cascade GO:0007254 9.61 ROR2 WNT5A
19 neural tube development GO:0021915 9.6 DVL1 WNT5A
20 presynapse assembly GO:0099054 9.59 DVL1 WNT5A
21 positive regulation of G protein-coupled receptor signaling pathway GO:0045745 9.58 FZD2 WNT5A
22 positive regulation of protein kinase C activity GO:1900020 9.58 ROR2 WNT5A
23 regulation of cellular protein localization GO:1903827 9.58 DVL1 DVL3 WNT5A
24 convergent extension involved in organogenesis GO:0060029 9.57 DVL1 WNT5A
25 non-canonical Wnt signaling pathway via JNK cascade GO:0038031 9.56 DVL3 WNT5A
26 positive regulation of neuron projection arborization GO:0150012 9.5 DVL1 DVL3 WNT5A
27 non-canonical Wnt signaling pathway GO:0035567 9.46 DVL1 DVL3 FZD2 WNT5A
28 planar cell polarity pathway involved in neural tube closure GO:0090179 9.26 DVL1 DVL3 FZD2 WNT5A
29 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.02 DVL1 DVL3 FZD2 ROR2 WNT5A

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

# Name GO ID Score Top Affiliating Genes
1 beta-catenin binding GO:0008013 9.26 DVL1 DVL3
2 Rac GTPase binding GO:0048365 9.16 DVL1 DVL3
3 Wnt-protein binding GO:0017147 8.96 FZD2 ROR2
4 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
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
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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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