RRS2
MCID: RBN023
MIFTS: 24

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 56 73 6
Rrs2 56 73

Characteristics:

OMIM:

56
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:



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). Affiliated tissues include eye, and related phenotypes are global developmental delay and gingival overgrowth

OMIM : 56 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)

Related Diseases for Robinow Syndrome, Autosomal Recessive 2

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Recessive 2

Human phenotypes related to Robinow Syndrome, Autosomal Recessive 2:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 gingival overgrowth 31 HP:0000212
3 hypertelorism 31 HP:0000316
4 abnormality of the dentition 31 HP:0000164
5 wide nasal bridge 31 HP:0000431
6 delayed speech and language development 31 HP:0000750
7 short nose 31 HP:0003196
8 short stature 31 HP:0004322
9 broad thumb 31 HP:0011304
10 frontal bossing 31 HP:0002007
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:

56
Head And Neck Eyes:
hypertelorism
long eyelashes
prominent eyes

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

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 Nose:
wide nasal bridge
short nose
anteverted nares
broad nasal tip

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

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:

40
Eye

Publications for Robinow Syndrome, Autosomal Recessive 2

Articles related to Robinow Syndrome, Autosomal Recessive 2:

(show all 16)
# Title Authors PMID Year
1
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. 56 6
29276006 2018
2
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
32405768 2020
3
Detection of Leptospira interrogans in Hedgehogs from Central China. 61
32155388 2020
4
Leptospira Survey in Wild Boar (Sus scrofa) Hunted in Tuscany, Central Italy. 61
32423022 2020
5
Characterisation of barley landraces from Syria and Jordan for resistance to rhynchosporium and identification of diagnostic markers for Rrs1Rh4. 61
31965232 2020
6
Leptospira in Bats from Hubei Province, China, 2018. 61
31009304 2019
7
First record of Leptospira and Blastocystis infections in captive flying squirrels (Trogopterus xanthipes) from Enshi County, China. 61
31220434 2019
8
Association of Sensitization to Different Aeroallergens With Airway Function and Nasal Patency in Urban Children. 61
31172725 2019
9
Feral cats do not play a major role in leptospirosis epidemiology on Reunion Island. 61
30869033 2019
10
Pathogenic Leptospira Species in Insectivorous Bats, China, 2015. 61
29774833 2018
11
Are PECTIN ESTERASE INHIBITOR Genes Involved in Mediating Resistance to Rhynchosporium commune in Barley? 61
26937960 2016
12
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
22272833 2012
13
Fine mapping, physical mapping and development of diagnostic markers for the Rrs2 scald resistance gene in barley. 61
19789848 2009
14
The complex quantitative barley-Rhynchosporium secalis interaction: newly identified QTL may represent already known resistance genes. 61
18806993 2008
15
Multilocus sequence typing method for identification and genotypic classification of pathogenic Leptospira species. 61
17121682 2006
16
Normal assembly of 60 S ribosomal subunits is required for the signaling in response to a secretory defect in Saccharomyces cerevisiae. 61
11893754 2002

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.1231_1233GAG[1] (p.Glu412del)short repeat Pathogenic 488062 rs1555607285 17:704261-704263 17:801021-801023
2 NXN NM_022463.5(NXN):c.-6172_361-75725deldeletion Pathogenic 638809 17:805043-889090 17:901803-985850
3 NXN NM_022463.5(NXN):c.625C>T (p.Arg209Ter)SNV Likely pathogenic 488056 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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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