MCID: RR2001
MIFTS: 14

Ror2-Related Robinow Syndrome

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases, Smell/Taste 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 and bone.

GeneReviews: NBK1240

Related Diseases for Ror2-Related Robinow Syndrome

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:

40
Heart, Bone

Publications for Ror2-Related Robinow Syndrome

Articles related to Ror2-Related Robinow Syndrome:

(showing 45, show less)
# Title Authors PMID Year
1
Anaesthetic implications of Robinow syndrome. 61 24
14535914 2003
2
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. 24
29276006 2018
3
ROR-Family Receptor Tyrosine Kinases. 24
28236965 2017
4
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations. 24
26284319 2015
5
Craniofacial and intraoral phenotype of Robinow syndrome forms. 24
21496006 2011
6
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. 24
19640924 2009
7
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. 24
18831060 2008
8
Autosomal recessive Robinow syndrome: a case report. 24
18505648 2008
9
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. 24
17256787 2007
10
Prenatal and postnatal findings in a case with the autosomal recessive type of Robinow syndrome. 24
16757917 2006
11
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. 24
15952209 2005
12
Anaesthetic implications of the child with Robinow syndrome. 24
12950866 2003
13
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. 24
12815588 2003
14
Omodysplasia: an affected mother and son. 24
12210345 2002
15
Robinow syndrome. 24
12011143 2002
16
First-trimester diagnosis of Robinow syndrome. 24
11509854 2001
17
Expression of the receptor tyrosine kinase genes, Ror1 and Ror2, during mouse development. 24
11429290 2001
18
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. 24
10986040 2000
19
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. 24
10932186 2000
20
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. 24
10932187 2000
21
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. 24
10700182 2000
22
Recessive Robinow syndrome: with emphasis on endocrine functions. 24
9826209 1998
23
Congenital heart disease in Robinow syndrome. 24
9600746 1998
24
Redefining the genital abnormality in the Robinow syndrome. -004. 24
9146662 1997
25
Anaesthesia and Robinow syndrome. 24
8546306 1995
26
A novel family of cell surface receptors with tyrosine kinase-like domain. 24
1334494 1992
27
Robinow syndrome without mesomelic 'brachymelia': a report of five cases. 24
3746837 1986
28
A newly recognized dwarfing syndrome. 24
5771504 1969
29
Robinow Syndrome: A Rare Diagnosis. 61
26816964 2015
30
Robinow Syndrome: A Rare Case Report and Review of Literature. 61
26379386 2015
31
Prenatal diagnosis of Robinow syndrome: a case report. 61
24151023 2014
32
ROR2-Related Robinow Syndrome 61
20301418 2005
33
Midline cleft of the lower lip associated with Robinow syndrome. 61
15841804 2004
34
Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type. 61
10213037 1999
35
[Robin-Silverman-Smith (fetal face) syndrome]. 61
8569140 1995
36
The Robinow (fetal face) syndrome: a continuing puzzle. 61
8287180 1993
37
Robinow or "fetal face syndrome" in a male infant with ambiguous genitalia and androgen receptor deficiency. 61
2373109 1990
38
Robinow syndrome: report of two patients and review of literature. 61
3549067 1987
39
Robinow syndrome (Fetal Face syndrome). 61
6676283 1983
40
[Fetal face syndrome (Robinow syndrome]. 61
7273217 1981
41
[The fetal face syndrome or Robinow syndrome. Description of a case (clinical and immunological aspects)]. 61
7254142 1980
42
[Report on a variant of the fetal-face-syndrome with acral dysostosis (Robinow-Silverman-Smith-Syndrome) (author's transl)]. 61
1237758 1975
43
Picture of the month: Fetal face syndrome (Robinow Snydrome). 61
1121964 1975
44
Fetal face syndrome with mental retardation. 61
4847191 1974
45
Fetal face syndrome with acral dysostosis. 61
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

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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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