MCID: RBN002
MIFTS: 47

Robinow Syndrome

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

Aliases & Classifications for Robinow Syndrome

MalaCards integrated aliases for Robinow Syndrome:

Name: Robinow Syndrome 12 50 25 56 29 52 14
Acral Dysostosis with Facial and Genital Abnormalities 12 50 25 56
Fetal Face Syndrome 12 50 25 56
Robinow Dwarfism 12 50 25 56
Mesomelic Dwarfism-Small Genitalia Syndrome 25 56
Robinow-Silverman-Smith Syndrome 25 56
Dysostosis Acral with Facial and Genital Abnormalities 50
Robinow Syndrome, Autosomal Dominant 42
Robinow-Silverman Syndrome 25
Robinow's Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
robinow syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060254
ICD10 33 Q87.1
MeSH 42 C562492
NCIt 47 C85048
SNOMED-CT 64 76520005
Orphanet 56 ORPHA97360
UMLS via Orphanet 70 C0265205
ICD10 via Orphanet 34 Q87.1
UMLS 69 C0265205

Summaries for Robinow Syndrome

NIH Rare Diseases : 50 robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. two forms of robinow syndrome have been described: autosomal recessive robinow syndrome, and the milder autosomal dominant robinow syndrome. they are distinguished based on their modes of inheritance, symptoms, and severity. autosomal recessive robinow syndrome causes shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones leading to kyphoscoliosis; fused or missing ribs; short stature; and distinctive facial features. other features may include underdeveloped genitalia; dental problems; kidney or heart defects; or delayed development. this form is caused by mutations in the ror2 gene.autosomal dominant robinow syndrome causes more mild, but similar, features. there are rarely spine and rib abnormalities, and short stature is less severe. a variant type of this form is additionally characterized by osteosclerosis. autosomal dominant robinow syndrome may be caused by a mutation in the wnt5a or dvl1 gene. in some cases, the underlying cause of robinow syndrome is unknown. management may include bracing or surgery for skeletal abnormalities and growth hormone to increase growth rate in affected children. last updated: 9/28/2015

MalaCards based summary : Robinow Syndrome, also known as acral dysostosis with facial and genital abnormalities, is related to robinow syndrome, autosomal recessive and robinow syndrome, autosomal dominant 2. An important gene associated with Robinow Syndrome is WNT5A (Wnt Family Member 5A), and among its related pathways/superpathways are Pathways in cancer and Wnt Signaling Pathway and Pluripotency. The drugs Pembrolizumab and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and kidney, and related phenotypes are growth/size/body region and limbs/digits/tail

Disease Ontology : 12 A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.

Genetics Home Reference : 25 Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the bones. Researchers have identified two major types of Robinow syndrome. The types are distinguished by the severity of their signs and symptoms and by their pattern of inheritance, autosomal recessive or autosomal dominant.

Wikipedia : 72 Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism,... more...

Related Diseases for Robinow Syndrome

Diseases in the Robinow Syndrome family:

Robinow Syndrome, Autosomal Dominant 2 Robinow Syndrome, Autosomal Dominant 1
Robinow Syndrome, Autosomal Dominant 3 Robinow Syndrome, Autosomal Recessive
Autosomal Dominant Robinow Syndrome Ror2-Related Robinow Syndrome
Robinow-Like Syndrome

Diseases related to Robinow Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
id Related Disease Score Top Affiliating Genes
1 robinow syndrome, autosomal recessive 12.3
2 robinow syndrome, autosomal dominant 2 12.2
3 robinow syndrome, autosomal dominant 1 12.2
4 robinow syndrome, autosomal dominant 3 12.2
5 autosomal dominant robinow syndrome 12.0
6 ror2-related robinow syndrome 11.9
7 bile acid synthesis defect, congenital, 6 10.5 DVL3 WNT5A
8 complement component 8 deficiency 10.4 GNRH1 IGF1
9 porokeratosis 10.3 CGA GNRH1 IGF1
10 pseudopterygium 10.3 CGA GNRH1 IGF1
11 autosomal dominant tubulointerstitial kidney disease, umod-related 10.2 DVL1 DVL3 ROR2 WNT5A
12 stankiewicz-isidor syndrome 10.1 LMBR1 PTCHD3
13 pepck 1 deficiency 10.1 CGA GNRH1
14 brachydactyly 10.1
15 dwarfism 9.9
16 heart disease 9.9
17 hyperostosis 9.7
18 vaginitis 9.7
19 cockayne syndrome 9.7
20 cystic kidney disease 9.7
21 laryngitis 9.7
22 kidney disease 9.7
23 pfeiffer syndrome 9.7
24 growth hormone deficiency 9.7
25 split hand 9.7
26 cryptorchidism 9.7
27 vaginal atresia 9.7
28 inguinal hernia 9.7
29 respiratory failure 9.7
30 loeys-dietz syndrome 1 8.5 BCL2A1 HPSE INHA LMBR1 MRRF PTCHD3
31 renal-hepatic-pancreatic dysplasia 4.4 ATP8A1 BCL2A1 CGA DVL1 DVL3 ENSG00000283433

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



Diseases related to Robinow Syndrome

Symptoms & Phenotypes for Robinow Syndrome

MGI Mouse Phenotypes related to Robinow Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.9 CGA DVL3 GNRH1 IGF1 INHA LMBR1
2 limbs/digits/tail MP:0005371 9.5 DVL3 HPSE IGF1 LMBR1 ROR2 TWIST1
3 skeleton MP:0005390 9.32 DVL1 DVL3 GNRH1 HPSE IGF1 INHA

Drugs & Therapeutics for Robinow Syndrome

Drugs for Robinow Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id 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:


id 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 Robinow Syndrome

Cochrane evidence based reviews: robinow syndrome, autosomal dominant

Genetic Tests for Robinow Syndrome

Genetic tests related to Robinow Syndrome:

id Genetic test Affiliating Genes
1 Robinow Syndrome 29

Anatomical Context for Robinow Syndrome

MalaCards organs/tissues related to Robinow Syndrome:

39
Bone, Heart, Kidney, Testes, Brain

Publications for Robinow Syndrome

Articles related to Robinow Syndrome:

(show top 50) (show all 95)
id Title Authors Year
1
Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound. ( 28680597 )
2017
2
Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome. ( 28662348 )
2017
3
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. ( 26924530 )
2016
4
A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome. ( 27092434 )
2016
5
Robinow Syndrome: A Rare Case Report and Review of Literature. ( 26379386 )
2015
6
Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome. ( 25817014 )
2015
7
Vertebral anomalies accompanying Robinow syndrome. ( 26674440 )
2015
8
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations. ( 26284319 )
2015
9
Robinow Syndrome: A Rare Diagnosis. ( 26816964 )
2015
10
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome. ( 25817016 )
2015
11
Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome. ( 24932600 )
2014
12
An osteosclerotic form of Robinow syndrome. ( 25045061 )
2014
13
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. ( 24716670 )
2014
14
Respiratory failure in Robinow syndrome was treated with non-invasive mechanical ventilation for the first time. ( 25581697 )
2014
15
Null and hypomorph Prickle1 alleles in mice phenocopy human Robinow syndrome and disrupt signaling downstream of Wnt5a. ( 25190059 )
2014
16
Wnt signalling in testicular descent: a candidate mechanism for cryptorchidism in Robinow syndrome. ( 23895974 )
2013
17
Prenatal diagnosis of robinow syndrome: A case report. ( 24151023 )
2013
18
Reply to Mazzeu: Human mutations in RYK might cause Robinow syndrome. ( 23472253 )
2013
19
RYK is not mutated in autosomal dominant Robinow syndrome. ( 23355721 )
2013
20
Bilateral conductive hearing impairment with hyperostosis of the temporal bone: a new finding in Robinow syndrome. ( 22431878 )
2012
21
Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome. ( 22178368 )
2012
22
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. ( 20962035 )
2011
23
Craniofacial and intraoral phenotype of Robinow syndrome forms. ( 21496006 )
2011
24
Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome. ( 20095987 )
2010
25
Robinow syndrome, Cockayne syndrome, and Pfeiffer syndrome: an overview of physical, neurological, and oral characteristics. ( 20129888 )
2010
26
WNT5A mutations in patients with autosomal dominant Robinow syndrome. ( 19918918 )
2010
27
Identification of an association between Robinow syndrome and moyamoya. ( 19258733 )
2009
28
A case report on autosomal recessive Robinow syndrome. ( 19761290 )
2009
29
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. ( 19640924 )
2009
30
The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome. ( 18353862 )
2008
31
Robinow syndrome. ( 19753239 )
2008
32
Autosomal recessive Robinow syndrome: a case report. ( 18505648 )
2008
33
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. ( 18831060 )
2008
34
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. ( 17256787 )
2007
35
Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome. ( 17603805 )
2007
36
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum. ( 17665217 )
2007
37
Robinow syndrome: report of two cases and review of the literature. ( 17217496 )
2007
38
Robinow syndrome with variable neurologic features. ( 16418601 )
2006
39
Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. ( 17061261 )
2006
40
Laryngeal mask airway and the Robinow syndrome. ( 16407809 )
2006
41
Prenatal and postnatal findings in a case with the autosomal recessive type of Robinow syndrome. ( 16757917 )
2006
42
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. ( 15952209 )
2005
43
Robinow Syndrome: a case report. ( 16259327 )
2005
44
ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome. ( 16049033 )
2005
45
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. ( 14745966 )
2004
46
Midline cleft of the lower lip associated with Robinow syndrome. ( 15841804 )
2004
47
Robinow syndrome. ( 14767093 )
2004
48
Anaesthetic implications of the child with Robinow syndrome. ( 12950866 )
2003
49
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. ( 12815588 )
2003
50
Anaesthetic implications of Robinow syndrome. ( 14535914 )
2003

Variations for Robinow Syndrome

ClinVar genetic disease variations for Robinow Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WNT5A NM_003392.4(WNT5A): c.544T> C (p.Cys182Arg) single nucleotide variant Pathogenic rs387906663 GRCh37 Chromosome 3, 55508505: 55508505
2 WNT5A NM_003392.4(WNT5A): c.248G> C (p.Cys83Ser) single nucleotide variant Pathogenic rs786200925 GRCh38 Chromosome 3, 55479457: 55479457
3 WNT5A NM_003392.4(WNT5A): c.545G> C (p.Cys182Ser) single nucleotide variant Pathogenic rs869312850 GRCh38 Chromosome 3, 55474476: 55474476
4 WNT5A NM_003392.4(WNT5A): c.257A> G (p.Tyr86Cys) single nucleotide variant Pathogenic rs786204836 GRCh38 Chromosome 3, 55479448: 55479448
5 WNT5A NM_003392.4(WNT5A): c.206G> A (p.Cys69Tyr) single nucleotide variant Pathogenic rs786204837 GRCh38 Chromosome 3, 55479499: 55479499
6 DVL3 NM_004423.3(DVL3): c.1585delG (p.Ala529Profs) deletion Pathogenic rs869025215 GRCh37 Chromosome 3, 183887880: 183887880
7 DVL3 NM_004423.3(DVL3): c.1715-2A> G single nucleotide variant Pathogenic rs869025216 GRCh37 Chromosome 3, 183888105: 183888105
8 DVL3 NM_004423.3(DVL3): c.1715-1G> A single nucleotide variant Pathogenic rs869025217 GRCh37 Chromosome 3, 183888106: 183888106
9 DVL3 NM_004423.3(DVL3): c.1716delC (p.Ser573Valfs) deletion Pathogenic rs869025218 GRCh37 Chromosome 3, 183888108: 183888108
10 DVL3 NM_004423.3(DVL3): c.1749delC (p.Ser583Argfs) deletion Pathogenic rs869025219 GRCh37 Chromosome 3, 183888141: 183888141

Expression for Robinow Syndrome

Search GEO for disease gene expression data for Robinow Syndrome.

Pathways for Robinow Syndrome

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

(show all 14)
id Super pathways Score Top Affiliating Genes
1 12.36 DVL1 DVL3 IGF1 RAD51 WNT5A
2
Show member pathways
12.34 DVL1 DVL3 ROR2 WNT5A
3
Show member pathways
12.28 DVL1 DVL3 IGF1 WNT5A
4
Show member pathways
12.09 DVL1 DVL3 ROR2 WNT5A
5 12.01 HPSE IGF1 TWIST1 WNT5A
6
Show member pathways
11.79 DVL1 DVL3 ROR2 WNT5A
7 11.76 DVL1 DVL3 WNT5A
8 11.68 DVL1 DVL3 TWIST1
9
Show member pathways
11.62 DVL1 DVL3 IGF1 WNT5A
10 11.4 DVL1 DVL3 IGF1 WNT5A
11 11.22 DVL1 DVL3 ROR2
12
Show member pathways
10.68 DVL1 DVL3
13 10.57 CGA GNRH1
14 10.4 DVL1 DVL3 ROR2 WNT5A

GO Terms for Robinow Syndrome

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.97 DVL1 DVL3 IGF1 ROR2 WNT5A
2 negative regulation of apoptotic process GO:0043066 9.95 BCL2A1 GNRH1 IGF1 TWIST1 WNT5A
3 Wnt signaling pathway GO:0016055 9.81 DVL1 DVL3 ROR2 WNT5A
4 positive regulation of cell migration GO:0030335 9.78 ATP8A1 CGA IGF1 ROR2
5 positive regulation of canonical Wnt signaling pathway GO:0090263 9.76 DVL1 ROR2 WNT5A
6 negative regulation of canonical Wnt signaling pathway GO:0090090 9.76 DVL1 DVL3 ROR2 WNT5A
7 canonical Wnt signaling pathway GO:0060070 9.71 DVL1 DVL3 WNT5A
8 positive regulation of epithelial cell proliferation GO:0050679 9.67 IGF1 TWIST1 WNT5A
9 beta-catenin destruction complex disassembly GO:1904886 9.59 DVL1 DVL3
10 non-canonical Wnt signaling pathway GO:0035567 9.58 DVL3 WNT5A
11 positive regulation of transcription regulatory region DNA binding GO:2000679 9.56 IGF1 TWIST1
12 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.56 DVL1 DVL3 ROR2 WNT5A
13 presynapse assembly GO:0099054 9.52 DVL1 WNT5A
14 positive regulation of JUN kinase activity GO:0043507 9.5 DVL3 ROR2 WNT5A
15 embryonic digit morphogenesis GO:0042733 9.46 LMBR1 ROR2 TWIST1 WNT5A
16 convergent extension involved in organogenesis GO:0060029 9.43 DVL1 WNT5A
17 non-canonical Wnt signaling pathway via JNK cascade GO:0038031 9.4 DVL3 WNT5A
18 positive regulation of protein kinase C activity GO:1900020 9.37 ROR2 WNT5A
19 planar cell polarity pathway involved in neural tube closure GO:0090179 9.13 DVL1 DVL3 WNT5A
20 regulation of cellular protein localization GO:1903827 8.8 DVL1 DVL3 WNT5A

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

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.26 CGA GNRH1 IGF1 INHA
2 frizzled binding GO:0005109 8.92 DVL1 DVL3 ROR2 WNT5A

Sources for 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
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