MCID: RR2001
MIFTS: 11

Ror2-Related Robinow Syndrome

Categories: Fetal diseases

Aliases & Classifications for Ror2-Related Robinow Syndrome

MalaCards integrated aliases for Ror2-Related Robinow Syndrome:

Name: Ror2-Related Robinow Syndrome 24
Fetal Face Syndrome 24

Classifications:



Summaries for Ror2-Related Robinow Syndrome

MalaCards based summary : Ror2-Related Robinow Syndrome, also known as fetal face syndrome, is related to robinow syndrome, autosomal dominant 1 and autosomal dominant robinow syndrome. An important gene associated with Ror2-Related Robinow Syndrome is ROR2 (Receptor Tyrosine Kinase Like Orphan Receptor 2). Affiliated tissues include heart.

GeneReviews: NBK1240

Related Diseases for Ror2-Related Robinow Syndrome

Diseases related to Ror2-Related Robinow Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 robinow syndrome, autosomal dominant 1 11.8
2 autosomal dominant robinow syndrome 11.3
3 ankyloglossia with or without tooth anomalies 10.3
4 hypertelorism 10.3
5 cryptorchidism, unilateral or bilateral 10.3
6 pseudovaginal perineoscrotal hypospadias 10.3
7 robinow syndrome, autosomal recessive 1 10.3
8 brachydactyly 10.3
9 robinow syndrome 10.3
10 dysostosis 9.9
11 hydrocephalus 9.7
12 communicating hydrocephalus 9.7
13 hemangioma 9.7
14 capillary hemangioma 9.7
15 congenital hydrocephalus 9.7

Graphical network of the top 20 diseases related to Ror2-Related Robinow Syndrome:



Diseases related to Ror2-Related Robinow Syndrome

Symptoms & Phenotypes for Ror2-Related Robinow Syndrome

Drugs & Therapeutics for Ror2-Related Robinow Syndrome

Search Clinical Trials , NIH Clinical Center for Ror2-Related Robinow Syndrome

Genetic Tests for Ror2-Related Robinow Syndrome

Anatomical Context for Ror2-Related Robinow Syndrome

MalaCards organs/tissues related to Ror2-Related Robinow Syndrome:

41
Heart

Publications for Ror2-Related Robinow Syndrome

Articles related to Ror2-Related Robinow Syndrome:

(show all 44)
# Title Authors PMID Year
1
Anaesthetic implications of Robinow syndrome. 38 4
14535914 2003
2
ROR-Family Receptor Tyrosine Kinases. 4
28236965 2017
3
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations. 4
26284319 2015
4
Craniofacial and intraoral phenotype of Robinow syndrome forms. 4
21496006 2011
5
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. 4
19640924 2009
6
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. 4
18831060 2008
7
Autosomal recessive Robinow syndrome: a case report. 4
18505648 2008
8
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. 4
17256787 2007
9
Prenatal and postnatal findings in a case with the autosomal recessive type of Robinow syndrome. 4
16757917 2006
10
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. 4
15952209 2005
11
Anaesthetic implications of the child with Robinow syndrome. 4
12950866 2003
12
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. 4
12815588 2003
13
Omodysplasia: an affected mother and son. 4
12210345 2002
14
Robinow syndrome. 4
12011143 2002
15
First-trimester diagnosis of Robinow syndrome. 4
11509854 2001
16
Expression of the receptor tyrosine kinase genes, Ror1 and Ror2, during mouse development. 4
11429290 2001
17
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. 4
10986040 2000
18
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. 4
10932186 2000
19
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. 4
10932187 2000
20
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. 4
10700182 2000
21
Recessive Robinow syndrome: with emphasis on endocrine functions. 4
9826209 1998
22
Congenital heart disease in Robinow syndrome. 4
9600746 1998
23
Redefining the genital abnormality in the Robinow syndrome. -004. 4
9146662 1997
24
Anaesthesia and Robinow syndrome. 4
8546306 1995
25
A novel family of cell surface receptors with tyrosine kinase-like domain. 4
1334494 1992
26
Robinow syndrome without mesomelic 'brachymelia': a report of five cases. 4
3746837 1986
27
A newly recognized dwarfing syndrome. 4
5771504 1969
28
Robinow Syndrome: A Rare Diagnosis. 38
26816964 2015
29
Robinow Syndrome: A Rare Case Report and Review of Literature. 38
26379386 2015
30
Prenatal diagnosis of Robinow syndrome: a case report. 38
24151023 2014
31
ROR2-Related Robinow Syndrome 38
20301418 2005
32
Midline cleft of the lower lip associated with Robinow syndrome. 38
15841804 2004
33
Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type. 38
10213037 1999
34
[Robin-Silverman-Smith (fetal face) syndrome]. 38
8569140 1995
35
The Robinow (fetal face) syndrome: a continuing puzzle. 38
8287180 1993
36
Robinow or "fetal face syndrome" in a male infant with ambiguous genitalia and androgen receptor deficiency. 38
2373109 1990
37
Robinow syndrome: report of two patients and review of literature. 38
3549067 1987
38
Robinow syndrome (Fetal Face syndrome). 38
6676283 1983
39
[Fetal face syndrome (Robinow syndrome]. 38
7273217 1981
40
[The fetal face syndrome or Robinow syndrome. Description of a case (clinical and immunological aspects)]. 38
7254142 1980
41
[Report on a variant of the fetal-face-syndrome with acral dysostosis (Robinow-Silverman-Smith-Syndrome) (author's transl)]. 38
1237758 1975
42
Picture of the month: Fetal face syndrome (Robinow Snydrome). 38
1121964 1975
43
Fetal face syndrome with mental retardation. 38
4847191 1974
44
Fetal face syndrome with acral dysostosis. 38
4838165 1974

Variations for Ror2-Related Robinow Syndrome

Expression for Ror2-Related Robinow Syndrome

Search GEO for disease gene expression data for Ror2-Related Robinow Syndrome.

Pathways for Ror2-Related Robinow Syndrome

GO Terms for Ror2-Related Robinow Syndrome

Sources for Ror2-Related Robinow Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....