Robinow Syndrome, Autosomal Recessive 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Reproductive diseases Nephrological diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 618529 PS268310

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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.

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Related Diseases for Robinow Syndrome, Autosomal Recessive 2

Diseases in the Robinow Syndrome family:

Robinow Syndrome, Autosomal Dominant 1	Robinow Syndrome, Autosomal Recessive 1
Robinow Syndrome, Autosomal Dominant 2	Robinow Syndrome, Autosomal Dominant 3
Robinow Syndrome, Autosomal Recessive 2	Autosomal Dominant Robinow Syndrome

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Symptoms & Phenotypes for Robinow Syndrome, Autosomal Recessive 2

Clinical features from OMIM:

618529

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Drugs & Therapeutics for Robinow Syndrome, Autosomal Recessive 2

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

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Genetic Tests for Robinow Syndrome, Autosomal Recessive 2

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Anatomical Context for Robinow Syndrome, Autosomal Recessive 2

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

⁴¹

Eye

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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	White JJ...Carvalho CMB	29276006	2018
2	First record of Leptospira and Blastocystis infections in captive flying squirrels (Trogopterus xanthipes) from Enshi County, China. ³⁸	Xiao X...Gao QH	31220434	2019
3	Association of Sensitization to Different Aeroallergens With Airway Function and Nasal Patency in Urban Children. ³⁸	Lee S...Han MY	31172725	2019
4	Leptospira in Bats from Hubei Province, China, 2018. ³⁸	Zhao M...Yu XJ	31009304	2019
5	Feral cats do not play a major role in leptospirosis epidemiology on Reunion Island. ³⁸	Gomard Y...Tortosa P	30869033	2019
6	Pathogenic Leptospira Species in Insectivorous Bats, China, 2015. ³⁸	Han HJ...Yu XJ	29774833	2018
7	Are PECTIN ESTERASE INHIBITOR Genes Involved in Mediating Resistance to Rhynchosporium commune in Barley? ³⁸	Marzin S...Roder MS	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	Fu YB	22272833	2012
9	Fine mapping, physical mapping and development of diagnostic markers for the Rrs2 scald resistance gene in barley. ³⁸	Hanemann A...Roder MS	19789848	2009
10	The complex quantitative barley-Rhynchosporium secalis interaction: newly identified QTL may represent already known resistance genes. ³⁸	Wagner C...Friedt W	18806993	2008
11	Multilocus sequence typing method for identification and genotypic classification of pathogenic Leptospira species. ³⁸	Ahmed N...Hartskeerl RA	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	Miyoshi K...Mizuta K	11893754	2002

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Genes for Robinow Syndrome, Autosomal Recessive 2

Genes related to Robinow Syndrome, Autosomal Recessive 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NXN	Nucleoredoxin	Protein Coding	900	Molecular basis known ⁵⁷ Pathogenic ⁶

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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

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Expression for Robinow Syndrome, Autosomal Recessive 2

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

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Pathways for Robinow Syndrome, Autosomal Recessive 2

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GO Terms for Robinow Syndrome, Autosomal Recessive 2

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Robinow Syndrome, Autosomal Recessive 2 (RRS2)

Aliases & Classifications for Robinow Syndrome, Autosomal Recessive 2

MalaCards integrated aliases for Robinow Syndrome, Autosomal Recessive 2:

Classifications:

External Ids:

Summaries for Robinow Syndrome, Autosomal Recessive 2

Related Diseases for Robinow Syndrome, Autosomal Recessive 2

Diseases in the Robinow Syndrome family:

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Recessive 2

Clinical features from OMIM:

Drugs & Therapeutics 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:

Publications for Robinow Syndrome, Autosomal Recessive 2

Articles related to Robinow Syndrome, Autosomal Recessive 2:

Genes for Robinow Syndrome, Autosomal Recessive 2

Genes related to Robinow Syndrome, Autosomal Recessive 2 (1 elite genes):

Variations for Robinow Syndrome, Autosomal Recessive 2

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

Expression 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