MCID: ATS082
MIFTS: 45

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 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;

GeneReviews:

24
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:



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 1 and robinow syndrome. 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. The drugs Pembrolizumab and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include tongue and bone, and related phenotypes are hypertelorism and wide nasal bridge

GeneReviews: NBK268648

Related Diseases for Autosomal Dominant 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 Autosomal Dominant Robinow Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 robinow syndrome, autosomal dominant 1 30.8 DVL3 WNT5A
2 robinow syndrome 29.9 DVL1 DVL3 ROR2 WNT5A
3 robinow syndrome, autosomal dominant 2 11.2
4 robinow syndrome, autosomal dominant 3 11.2

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 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
3 wide nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000445
4 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
5 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
6 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
7 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
8 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
9 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
10 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
11 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
12 hypoplastic labia majora 59 32 frequent (33%) Frequent (79-30%) HP:0000059
13 clitoral hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000060
14 hypoplastic labia minora 59 32 frequent (33%) Frequent (79-30%) HP:0000064
15 gingival overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0000212
16 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
17 retrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000278
18 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
19 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
20 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
21 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
22 long eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000527
23 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
24 long palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000637
25 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
26 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
27 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
28 high, narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0002705
29 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
30 hemivertebrae 59 32 frequent (33%) Frequent (79-30%) HP:0002937
31 severe short stature 59 32 frequent (33%) Frequent (79-30%) HP:0003510
32 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
33 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
34 curly eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0007665
35 median cleft lip and palate 59 32 frequent (33%) Frequent (79-30%) HP:0008501
36 bifid tongue 59 32 frequent (33%) Frequent (79-30%) HP:0010297
37 open bite 59 32 frequent (33%) Frequent (79-30%) HP:0010807
38 prominent forehead 59 32 frequent (33%) Frequent (79-30%) HP:0011220
39 euryblepharon 59 32 frequent (33%) Frequent (79-30%) HP:0012905
40 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
41 epispadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000039
42 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
43 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
44 posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000358
45 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
46 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
47 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
48 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
49 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
50 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508

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 FZD2 ROR2 WNT5A DVL1 DVL3
2 embryo MP:0005380 9.72 ROR2 WNT5A DVL1 DVL3 FZD2
3 craniofacial MP:0005382 9.67 FZD2 ROR2 WNT5A DVL3
4 hearing/vestibular/ear MP:0005377 9.65 ROR2 WNT5A DVL1 DVL3 FZD2
5 mortality/aging MP:0010768 9.55 FZD2 ROR2 WNT5A DVL1 DVL3
6 nervous system MP:0003631 9.35 FZD2 ROR2 WNT5A DVL1 DVL3
7 skeleton MP:0005390 9.02 FZD2 ROR2 WNT5A DVL1 DVL3

Drugs & Therapeutics for Autosomal Dominant Robinow Syndrome

Drugs for Autosomal Dominant 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 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
Tongue, Bone

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
13.74 DVL1 DVL3 FZD2 ROR2 WNT5A
2
Show member pathways
12.96 DVL1 FZD2 ROR2 WNT5A
3
Show member pathways
12.75 DVL1 DVL3 FZD2 WNT5A
4
Show member pathways
12.69 DVL1 DVL3 FZD2 WNT5A
5 12.55 DVL1 DVL3 FZD2 WNT5A
6
Show member pathways
12.48 DVL1 DVL3 FZD2 WNT5A
7
Show member pathways
12.48 DVL1 DVL3 FZD2 ROR2 WNT5A
8
Show member pathways
12.28 DVL1 DVL3 FZD2
9
Show member pathways
12.24 DVL1 DVL3 FZD2 WNT5A
10
Show member pathways
12.22 DVL1 FZD2 WNT5A
11 12.16 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
Show member pathways
11.86 DVL1 DVL3 FZD2 ROR2 WNT5A
17
Show member pathways
11.85 DVL1 DVL3 FZD2 WNT5A
18 11.77 DVL1 DVL3 WNT5A
19 11.73 DVL1 FZD2
20
Show member pathways
11.72 DVL1 FZD2 WNT5A
21
Show member pathways
11.72 DVL1 DVL3 FZD2 WNT5A
22 11.64 DVL1 DVL3
23 11.6 DVL1 DVL3 FZD2 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
10.8 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 30)
# 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 9.85 DVL1 DVL3 FZD2 ROR2 WNT5A
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.8 DVL1 DVL3 ROR2 WNT5A
4 positive regulation of protein phosphorylation GO:0001934 9.77 DVL1 DVL3 WNT5A
5 positive regulation of canonical Wnt signaling pathway GO:0090263 9.77 DVL1 ROR2 WNT5A
6 positive regulation of JUN kinase activity GO:0043507 9.7 DVL3 ROR2 WNT5A
7 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.69 FZD2 ROR2 WNT5A
8 canonical Wnt signaling pathway GO:0060070 9.67 DVL1 DVL3 FZD2 WNT5A
9 neuron differentiation GO:0030182 9.65 FZD2 WNT5A
10 cochlea morphogenesis GO:0090103 9.65 DVL1 FZD2 WNT5A
11 Wnt signaling pathway GO:0016055 9.65 DVL1 DVL3 FZD2 ROR2 WNT5A
12 axonogenesis GO:0007409 9.64 DVL1 WNT5A
13 positive regulation of neuron projection development GO:0010976 9.64 DVL1 WNT5A
14 cell fate commitment GO:0045165 9.63 ROR2 WNT5A
15 inner ear morphogenesis GO:0042472 9.63 ROR2 WNT5A
16 embryonic digit morphogenesis GO:0042733 9.62 ROR2 WNT5A
17 JNK cascade GO:0007254 9.62 ROR2 WNT5A
18 somitogenesis GO:0001756 9.61 ROR2 WNT5A
19 neural tube development GO:0021915 9.61 DVL1 WNT5A
20 beta-catenin destruction complex disassembly GO:1904886 9.61 DVL1 DVL3 FZD2
21 presynapse assembly GO:0099054 9.58 DVL1 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 non-canonical Wnt signaling pathway via JNK cascade GO:0038031 9.57 DVL3 WNT5A
25 convergent extension involved in organogenesis GO:0060029 9.56 DVL1 WNT5A
26 positive regulation of cGMP metabolic process GO:0030825 9.54 FZD2 WNT5A
27 positive regulation of neuron projection arborization GO:0150012 9.5 DVL1 DVL3 WNT5A
28 non-canonical Wnt signaling pathway GO:0035567 9.46 DVL1 DVL3 FZD2 WNT5A
29 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.35 DVL1 DVL3 FZD2 ROR2 WNT5A
30 planar cell polarity pathway involved in neural tube closure GO:0090179 8.92 DVL1 DVL3 FZD2 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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