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 24 59
Robinow Syndrome, Autosomal Dominant 13 40
Fetal Face Syndrome 24

Characteristics:

Orphanet epidemiological data:

59
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 macrocephaly and hypertelorism

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:

59 32 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
4 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
5 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
6 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
7 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
8 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
9 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
10 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
11 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
12 gingival overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0000212
13 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
14 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
15 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
16 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
17 open bite 59 32 frequent (33%) Frequent (79-30%) HP:0010807
18 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
19 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768
20 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
21 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
22 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
23 prominent forehead 59 32 frequent (33%) Frequent (79-30%) HP:0011220
24 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
25 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
26 retrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000278
27 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
28 coxa valga 59 32 occasional (7.5%) Occasional (29-5%) HP:0002673
29 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
30 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
31 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
32 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
33 specific learning disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001328
34 high, narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0002705
35 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
36 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
37 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
38 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
39 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
40 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
41 increased number of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0011069
42 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
43 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
44 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
45 elbow dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0003042
46 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
47 severe short stature 59 32 frequent (33%) Frequent (79-30%) HP:0003510
48 hypodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000668
49 sacral dimple 59 32 occasional (7.5%) Occasional (29-5%) HP:0000960
50 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800

MGI Mouse Phenotypes related to Autosomal Dominant Robinow Syndrome:

46
# 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:

41
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 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 DVL1 DVL3 FZD2 ROR2 WNT5A
2
Show member pathways
12.96 DVL1 FZD2 ROR2 WNT5A
3
Show member pathways
12.72 DVL1 DVL3 FZD2 WNT5A
4 12.56 DVL1 DVL3 FZD2 WNT5A
5
Show member pathways
12.49 DVL1 DVL3 FZD2 WNT5A
6
Show member pathways
12.48 DVL1 DVL3 FZD2 ROR2 WNT5A
7
Show member pathways
12.29 DVL1 DVL3 FZD2
8
Show member pathways
12.26 DVL1 DVL3 FZD2 WNT5A
9
Show member pathways
12.23 DVL1 FZD2 WNT5A
10
Show member pathways
12.18 DVL1 DVL3 FZD2 WNT5A
11 12.17 DVL1 FZD2 WNT5A
12 12.16 DVL1 DVL3 FZD2 WNT5A
13 11.98 DVL1 FZD2 WNT5A
14
Show member pathways
11.94 DVL1 FZD2 WNT5A
15 11.89 DVL1 FZD2 WNT5A
16 11.89 DVL1 DVL3 FZD2 WNT5A
17
Show member pathways
11.86 DVL1 DVL3 FZD2 ROR2 WNT5A
18
Show member pathways
11.85 DVL1 DVL3 FZD2 WNT5A
19 11.78 DVL1 DVL3 WNT5A
20 11.73 DVL1 FZD2
21
Show member pathways
11.73 DVL1 FZD2 WNT5A
22
Show member pathways
11.72 DVL1 DVL3 FZD2 WNT5A
23 11.66 DVL1 FZD2
24 11.65 DVL1 DVL3
25 11.6 DVL1 DVL3 FZD2 WNT5A
26 11.47 DVL1 FZD2
27 11.41 FZD2 WNT5A
28 11.41 DVL1 DVL3 ROR2
29 11.34 DVL1 FZD2
30 11.06 FZD2 ROR2 WNT5A
31
Show member pathways
10.8 DVL1 DVL3
32 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 positive regulation of protein phosphorylation GO:0001934 9.81 DVL1 DVL3 ROR2 WNT5A
4 negative regulation of canonical Wnt signaling pathway GO:0090090 9.73 DVL1 DVL3 ROR2 WNT5A
5 positive regulation of JUN kinase activity GO:0043507 9.71 DVL3 ROR2 WNT5A
6 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.7 FZD2 ROR2 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 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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