RRS2
MCID: RBN023
MIFTS: 16

Robinow Syndrome, Autosomal Recessive 2 (RRS2)

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

Aliases & Classifications for Robinow Syndrome, Autosomal Recessive 2

MalaCards integrated aliases for Robinow Syndrome, Autosomal Recessive 2:

Name: Robinow Syndrome, Autosomal Recessive 2 57 6
Rrs2 57

Classifications:



External Ids:

Summaries for Robinow Syndrome, Autosomal Recessive 2

OMIM : 57 Autosomal recessive Robinow syndrome-2 is a skeletal dysplasia characterized by postnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth. Variable other congenital anomalies may be present, including omphalocele, ventral hernia, and cardiac anomalies (White et al., 2018). For a discussion of genetic heterogeneity of autosomal recessive Robinow syndrome, see RRS1 (268310). (618529)

MalaCards based summary : Robinow Syndrome, Autosomal Recessive 2, is also known as rrs2. An important gene associated with Robinow Syndrome, Autosomal Recessive 2 is NXN (Nucleoredoxin). Affiliated tissues include eye.

Related Diseases for Robinow Syndrome, Autosomal Recessive 2

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Recessive 2

Clinical features from OMIM:

618529

Drugs & Therapeutics for Robinow Syndrome, Autosomal Recessive 2

Search Clinical Trials , NIH Clinical Center for Robinow Syndrome, Autosomal Recessive 2

Genetic Tests for Robinow Syndrome, Autosomal Recessive 2

Anatomical Context for Robinow Syndrome, Autosomal Recessive 2

MalaCards organs/tissues related to Robinow Syndrome, Autosomal Recessive 2:

41
Eye

Publications for Robinow Syndrome, Autosomal Recessive 2

Articles related to Robinow Syndrome, Autosomal Recessive 2:

(show all 12)
# Title Authors PMID Year
1
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. 8
29276006 2018
2
First record of Leptospira and Blastocystis infections in captive flying squirrels (Trogopterus xanthipes) from Enshi County, China. 38
31220434 2019
3
Association of Sensitization to Different Aeroallergens With Airway Function and Nasal Patency in Urban Children. 38
31172725 2019
4
Leptospira in Bats from Hubei Province, China, 2018. 38
31009304 2019
5
Feral cats do not play a major role in leptospirosis epidemiology on Reunion Island. 38
30869033 2019
6
Pathogenic Leptospira Species in Insectivorous Bats, China, 2015. 38
29774833 2018
7
Are PECTIN ESTERASE INHIBITOR Genes Involved in Mediating Resistance to Rhynchosporium commune in Barley? 38
26937960 2016
8
Population-based resequencing analysis of wild and cultivated barley revealed weak domestication signal of selection and bottleneck in the Rrs2 scald resistance gene region. 38
22272833 2012
9
Fine mapping, physical mapping and development of diagnostic markers for the Rrs2 scald resistance gene in barley. 38
19789848 2009
10
The complex quantitative barley-Rhynchosporium secalis interaction: newly identified QTL may represent already known resistance genes. 38
18806993 2008
11
Multilocus sequence typing method for identification and genotypic classification of pathogenic Leptospira species. 38
17121682 2006
12
Normal assembly of 60 S ribosomal subunits is required for the signaling in response to a secretory defect in Saccharomyces cerevisiae. 38
11893754 2002

Variations for Robinow Syndrome, Autosomal Recessive 2

ClinVar genetic disease variations for Robinow Syndrome, Autosomal Recessive 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NXN NM_022463.5(NXN): c.1234_1236del short repeat Pathogenic rs1555607285 17:704262-704264 17:801021-801023
2 NXN NM_022463.5(NXN): c.-6172_361-75725del deletion Pathogenic 17:805043-889090 17:901803-985850
3 NXN NM_022463.5(NXN): c.625C> T (p.Arg209Ter) single nucleotide variant Likely pathogenic rs1555610590 17:725685-725685 17:822445-822445

Expression for Robinow Syndrome, Autosomal Recessive 2

Search GEO for disease gene expression data for Robinow Syndrome, Autosomal Recessive 2.

Pathways for Robinow Syndrome, Autosomal Recessive 2

GO Terms for Robinow Syndrome, Autosomal Recessive 2

Sources for Robinow Syndrome, Autosomal Recessive 2

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....