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 ⁷³ ⁶

Rrs2 ⁵⁷ ⁷³

Syndrome, Robinow, Autosomal Recessive, Type 2 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
based on 3 affected girls from 2 unrelated families (last curated august 2019)

HPO:

³¹

robinow syndrome, autosomal recessive 2:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618529

OMIM Phenotypic Series ⁵⁷ PS268310

MeSH ⁴⁴ D004392 D014564 D017880 more

MedGen ⁴¹ C5193143 CN262179

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Summaries for Robinow Syndrome, Autosomal Recessive 2

UniProtKB/Swiss-Prot : ⁷³ Robinow syndrome, autosomal recessive 2: A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet.

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). Related phenotypes are frontal bossing and global developmental delay

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) (Updated 05-Mar-2021)

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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
Ror2-Related Robinow Syndrome

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Symptoms & Phenotypes for Robinow Syndrome, Autosomal Recessive 2

Human phenotypes related to Robinow Syndrome, Autosomal Recessive 2:

³¹ (show all 29)

#	Description	HPO Source Accession
1	frontal bossing ³¹	HP:0002007
2	global developmental delay ³¹	HP:0001263
3	gingival overgrowth ³¹	HP:0000212
4	hypertelorism ³¹	HP:0000316
5	abnormality of the dentition ³¹	HP:0000164
6	wide nasal bridge ³¹	HP:0000431
7	delayed speech and language development ³¹	HP:0000750
8	short nose ³¹	HP:0003196
9	short stature ³¹	HP:0004322
10	broad thumb ³¹	HP:0011304
11	micrognathia ³¹	HP:0000347
12	low-set ears ³¹	HP:0000369
13	bicuspid aortic valve ³¹	HP:0001647
14	brachydactyly ³¹	HP:0001156
15	long philtrum ³¹	HP:0000343
16	proptosis ³¹	HP:0000520
17	high forehead ³¹	HP:0000348
18	midface retrusion ³¹	HP:0011800
19	omphalocele ³¹	HP:0001539
20	long eyelashes ³¹	HP:0000527
21	posteriorly rotated ears ³¹	HP:0000358
22	relative macrocephaly ³¹	HP:0004482
23	broad nasal tip ³¹	HP:0000455
24	mesomelia ³¹	HP:0003027
25	camptodactyly ³¹	HP:0012385
26	clinodactyly ³¹	HP:0030084
27	triangular mouth ³¹	HP:0000207
28	ventral hernia ³¹	HP:0002933
29	absent uvula ³¹	HP:0010292

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Head And Neck Face:
frontal bossing
micrognathia
long philtrum
high forehead
midface hypoplasia

Head And Neck Nose:
wide nasal bridge
short nose
anteverted nares
broad nasal tip

Skeletal Hands:
brachydactyly
camptodactyly
clinodactyly
broad thumbs
fetal finger pads

Skeletal Skull:
relative macrocephaly

Head And Neck Mouth:
triangular mouth
absent uvula
gingival hyperplasia
cleft lip and palate
notched upper lip

Growth Height:
short stature (postnatal onset)

Neurologic Central Nervous System:
developmental delay (patient a)
speech delay (patient a)

Cardiovascular Vascular:
dilation of the ascending aorta (patient a)
aberrant right coronary artery (patient a)

Head And Neck Eyes:
hypertelorism
long eyelashes
prominent eyes

Head And Neck Ears:
low-set ears
posteriorly rotated ears
dysmorphic helices

Head And Neck Head:
relative macrocephaly

Skeletal Limbs:
mesomelia

Head And Neck Teeth:
dental anomalies

Skeletal Feet:
broad first toe
fetal toe pads

Cardiovascular Heart:
bicuspid aortic valve (patient a)

Abdomen External Features:
omphalocele (patient a)
ventral hernia (patient a)

Clinical features from OMIM®:

618529 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Robinow Syndrome, Autosomal Recessive 2:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	8.62	ABR NXN

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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

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Publications for Robinow Syndrome, Autosomal Recessive 2

Articles related to Robinow Syndrome, Autosomal Recessive 2:

(show all 18)

#	Title	Authors	PMID	Year
1	WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. ⁶ ⁵⁷	White JJ...Carvalho CMB	29276006	2018
2	Presence of pathogenic Leptospira spp. in the reproductive system and fetuses of wild boars (Sus scrofa) in Italy. ⁶¹	Cilia G...Fratini F	33370309	2020
3	Cross-sectional evaluation of multiple epidemiological cycles of Leptospira species in peri-urban wildlife in California. ⁶¹	Straub MH...Foley JE	33021456	2020
4	Fine mapping QSc.VR4, an effective and stable scald resistance locus in barley (Hordeum vulgare L.), to a 0.38-Mb region enriched with LRR-RLK and GLP genes. ⁶¹	Wang Y...Li C	32405768	2020
5	Detection of Leptospira interrogans in Hedgehogs from Central China. ⁶¹	Ma XJ...Yu XJ	32155388	2020
6	Leptospira Survey in Wild Boar (Sus scrofa) Hunted in Tuscany, Central Italy. ⁶¹	Cilia G...Fratini F	32423022	2020
7	Characterisation of barley landraces from Syria and Jordan for resistance to rhynchosporium and identification of diagnostic markers for Rrs1Rh4. ⁶¹	Looseley ME...Avrova A	31965232	2020
8	Leptospira in Bats from Hubei Province, China, 2018. ⁶¹	Zhao M...Yu XJ	31009304	2019
9	First record of Leptospira and Blastocystis infections in captive flying squirrels (Trogopterus xanthipes) from Enshi County, China. ⁶¹	Xiao X...Gao QH	31220434	2019
10	Association of Sensitization to Different Aeroallergens With Airway Function and Nasal Patency in Urban Children. ⁶¹	Lee S...Han MY	31172725	2019
11	Feral cats do not play a major role in leptospirosis epidemiology on Reunion Island. ⁶¹	Gomard Y...Tortosa P	30869033	2019
12	Pathogenic Leptospira Species in Insectivorous Bats, China, 2015. ⁶¹	Han HJ...Yu XJ	29774833	2018
13	Are PECTIN ESTERASE INHIBITOR Genes Involved in Mediating Resistance to Rhynchosporium commune in Barley? ⁶¹	Marzin S...Roder MS	26937960	2016
14	Population-based resequencing analysis of wild and cultivated barley revealed weak domestication signal of selection and bottleneck in the Rrs2 scald resistance gene region. ⁶¹	Fu YB	22272833	2012
15	Fine mapping, physical mapping and development of diagnostic markers for the Rrs2 scald resistance gene in barley. ⁶¹	Hanemann A...Roder MS	19789848	2009
16	The complex quantitative barley-Rhynchosporium secalis interaction: newly identified QTL may represent already known resistance genes. ⁶¹	Wagner C...Friedt W	18806993	2008
17	Multilocus sequence typing method for identification and genotypic classification of pathogenic Leptospira species. ⁶¹	Ahmed N...Hartskeerl RA	17121682	2006
18	Normal assembly of 60 S ribosomal subunits is required for the signaling in response to a secretory defect in Saccharomyces cerevisiae. ⁶¹	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	PubMed IDs
1	NXN	Nucleoredoxin	Protein Coding	917.15	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	29276006
2	ABR	ABR Activator Of RhoGEF And GTPase	Protein Coding	25	Likely 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	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	NXN	NM_022463.5(NXN):c.625C>T (p.Arg209Ter)	SNV	Pathogenic	488056	rs1555610590	17:725685-725685	17:822445-822445
2	NXN	NM_022463.5(NXN):c.1231_1233GAG[1] (p.Glu412del)	Microsatellite	Pathogenic	488062	rs1555607285	17:704261-704263	17:801021-801023
3	NXN	NM_022463.5(NXN):c.-6172_361-75725del	Deletion	Pathogenic	638809		17:805043-889090	17:901803-985850
4	NXN	NM_022463.5(NXN):c.817C>T (p.Gln273Ter)	SNV	Pathogenic	984983		17:722682-722682	17:819442-819442
5	ABR	GRCh37/hg19 17p13.3(chr17:1-1026797)x1	copy number loss	Likely pathogenic	984984		17:1-1026797

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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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⁷⁴ Wikipedia

Robinow Syndrome, Autosomal Recessive 2 (RRS2)

Aliases & Classifications for Robinow Syndrome, Autosomal Recessive 2

MalaCards integrated aliases for Robinow Syndrome, Autosomal Recessive 2:

Characteristics:

OMIM®:

HPO:

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

Human phenotypes related to Robinow Syndrome, Autosomal Recessive 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Robinow Syndrome, Autosomal Recessive 2:

Drugs & Therapeutics for Robinow Syndrome, Autosomal Recessive 2

Genetic Tests for Robinow Syndrome, Autosomal Recessive 2

Anatomical Context for 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