MCID: ATS082
MIFTS: 43

Autosomal Dominant Robinow Syndrome

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

Aliases & Classifications for Autosomal Dominant Robinow Syndrome

MalaCards integrated aliases for Autosomal Dominant Robinow Syndrome:

Name: Autosomal Dominant Robinow Syndrome 23 55
Robinow Syndrome, Autosomal Dominant 13
Fetal Face Syndrome 23

Characteristics:

Orphanet epidemiological data:

55
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:



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, and has symptoms including hypertelorism, wide nasal bridge and wide nose. 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 PI3K-Akt signaling pathway. Affiliated tissues include tongue and bone, and related phenotypes are cardiovascular system and embryo

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 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 31.0 DVL1 DVL3 ROR2 WNT5A
2 robinow syndrome, autosomal dominant 1 30.9 DVL3 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:

55 31 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
3 wide nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0000445
4 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
5 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
6 micromelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002983
7 short nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0003196
8 short palm 55 31 hallmark (90%) Very frequent (99-80%) HP:0004279
9 hypoplasia of penis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008736
10 midface retrusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0011800
11 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
12 hypoplastic labia majora 55 31 frequent (33%) Frequent (79-30%) HP:0000059
13 clitoral hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0000060
14 hypoplastic labia minora 55 31 frequent (33%) Frequent (79-30%) HP:0000064
15 gingival overgrowth 55 31 frequent (33%) Frequent (79-30%) HP:0000212
16 macrocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000256
17 retrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000278
18 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
19 long philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000343
20 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
21 proptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000520
22 long eyelashes 55 31 frequent (33%) Frequent (79-30%) HP:0000527
23 upslanted palpebral fissure 55 31 frequent (33%) Frequent (79-30%) HP:0000582
24 long palpebral fissure 55 31 frequent (33%) Frequent (79-30%) HP:0000637
25 pectus excavatum 55 31 frequent (33%) Frequent (79-30%) HP:0000767
26 umbilical hernia 55 31 frequent (33%) Frequent (79-30%) HP:0001537
27 frontal bossing 55 31 frequent (33%) Frequent (79-30%) HP:0002007
28 high, narrow palate 55 31 frequent (33%) Frequent (79-30%) HP:0002705
29 downturned corners of mouth 55 31 frequent (33%) Frequent (79-30%) HP:0002714
30 hemivertebrae 55 31 frequent (33%) Frequent (79-30%) HP:0002937
31 severe short stature 55 31 frequent (33%) Frequent (79-30%) HP:0003510
32 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
33 depressed nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0005280
34 curly eyelashes 55 31 frequent (33%) Frequent (79-30%) HP:0007665
35 median cleft lip and palate 55 31 frequent (33%) Frequent (79-30%) HP:0008501
36 bifid tongue 55 31 frequent (33%) Frequent (79-30%) HP:0010297
37 open bite 55 31 frequent (33%) Frequent (79-30%) HP:0010807
38 prominent forehead 55 31 frequent (33%) Frequent (79-30%) HP:0011220
39 euryblepharon 55 31 frequent (33%) Frequent (79-30%) HP:0012905
40 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
41 epispadias 55 31 occasional (7.5%) Occasional (29-5%) HP:0000039
42 hypospadias 55 31 occasional (7.5%) Occasional (29-5%) HP:0000047
43 short philtrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000322
44 posteriorly rotated ears 55 31 occasional (7.5%) Occasional (29-5%) HP:0000358
45 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
46 low-set ears 55 31 occasional (7.5%) Occasional (29-5%) HP:0000369
47 short neck 55 31 occasional (7.5%) Occasional (29-5%) HP:0000470
48 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
49 downslanted palpebral fissures 55 31 occasional (7.5%) Occasional (29-5%) HP:0000494
50 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508

MGI Mouse Phenotypes related to Autosomal Dominant Robinow Syndrome:

43
# 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 DVL3 ROR2 WNT5A DVL1
3 hearing/vestibular/ear MP:0005377 9.56 DVL3 ROR2 WNT5A DVL1
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:

38
Tongue, Bone

Publications for Autosomal Dominant Robinow Syndrome

Articles related to Autosomal Dominant Robinow Syndrome:

# 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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 DVL1 ROR2 WNT5A
2
Show member pathways
12.57 DVL1 DVL3 WNT5A
3 12.46 DVL1 DVL3 WNT5A
4
Show member pathways
12.43 DVL1 DVL3 ROR2 WNT5A
5
Show member pathways
12.39 DVL1 DVL3 WNT5A
6
Show member pathways
12.16 DVL1 DVL3 WNT5A
7 12.09 DVL1 DVL3 WNT5A
8
Show member pathways
12.06 DVL1 DVL3 ROR2 WNT5A
9 11.87 DVL3 WNT5A
10 11.84 DVL1 DVL3 WNT5A
11 11.82 DVL1 WNT5A
12
Show member pathways
11.82 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 11.74 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:

# 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)
# 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 positive regulation of protein kinase C activity GO:1900020 9.48 ROR2 WNT5A
25 convergent extension involved in organogenesis GO:0060029 9.46 DVL1 WNT5A
26 non-canonical Wnt signaling pathway via JNK cascade GO:0038031 9.43 DVL3 WNT5A
27 planar cell polarity pathway involved in neural tube closure GO:0090179 9.33 DVL1 DVL3 WNT5A
28 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.26 DVL1 DVL3 ROR2 WNT5A
29 regulation of cellular protein localization GO:1903827 8.8 DVL1 DVL3 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 9.16 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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