NS12
MCID: NNN034
MIFTS: 27

Noonan Syndrome 12 (NS12)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Noonan Syndrome 12

MalaCards integrated aliases for Noonan Syndrome 12:

Name: Noonan Syndrome 12 57 12 73 29 6
Ns12 57 12 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
inter-and intrafamilial variable severity
facial gestalt not as apparent in adulthood


HPO:

31
noonan syndrome 12:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Noonan Syndrome 12

UniProtKB/Swiss-Prot : 73 Noonan syndrome 12: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS12 inheritance is autosomal dominant. There is considerable variability in severity.

MalaCards based summary : Noonan Syndrome 12, is also known as ns12. An important gene associated with Noonan Syndrome 12 is RRAS2 (RAS Related 2). Affiliated tissues include heart and kidney, and related phenotypes are feeding difficulties in infancy and pectus excavatum

Disease Ontology : 12 A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has material basis in heterozygous mutation in RRAS2 on chromosome 11p15.2.

OMIM® : 57 Noonan syndrome-12 (NS12) is characterized by macrocephaly and a recognizable facies, including hypertelorism, downslanting palpebral fissures, and low-set ears, as well as other features consistent with a Noonan syndrome diagnosis. Inter- and intrafamilial variability has been observed (Capri et al., 2019; Niihori et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). (618624) (Updated 05-Mar-2021)

Related Diseases for Noonan Syndrome 12

Symptoms & Phenotypes for Noonan Syndrome 12

Human phenotypes related to Noonan Syndrome 12:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 feeding difficulties in infancy 31 very rare (1%) HP:0008872
2 pectus excavatum 31 very rare (1%) HP:0000767
3 thrombocytopenia 31 very rare (1%) HP:0001873
4 motor delay 31 very rare (1%) HP:0001270
5 lymphopenia 31 very rare (1%) HP:0001888
6 polyhydramnios 31 very rare (1%) HP:0001561
7 tetralogy of fallot 31 very rare (1%) HP:0001636
8 amblyopia 31 very rare (1%) HP:0000646
9 ventriculomegaly 31 very rare (1%) HP:0002119
10 spinal canal stenosis 31 very rare (1%) HP:0003416
11 ventricular septal defect 31 very rare (1%) HP:0001629
12 arnold-chiari malformation 31 very rare (1%) HP:0002308
13 supravalvular aortic stenosis 31 very rare (1%) HP:0004381
14 proximal placement of thumb 31 very rare (1%) HP:0009623
15 anteriorly placed anus 31 very rare (1%) HP:0001545
16 mild global developmental delay 31 very rare (1%) HP:0011342
17 11 pairs of ribs 31 very rare (1%) HP:0000878
18 hypermetropia 31 very rare (1%) HP:0000540
19 esotropia 31 very rare (1%) HP:0000565
20 atopic dermatitis 31 very rare (1%) HP:0001047
21 hypotonia 31 very rare (1%) HP:0001252
22 decreased response to growth hormone stimuation test 31 very rare (1%) HP:0000824
23 glabellar hemangioma 31 very rare (1%) HP:0001076

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Skull:
macrocephaly

Head And Neck Eyes:
ptosis
hypertelorism
strabismus
myopia
epicanthal folds
more
Head And Neck Neck:
short neck
webbed neck
increased fetal nuchal fold

Abdomen Gastrointestinal:
inguinal hernia
gastroesophageal reflux
anteriorly placed anus
feeding difficulties

Skin Nails Hair Skin:
hyperkeratosis
atopic dermatitis
hemangiomas
glabellar nevus flammeus
wrinkled palms and soles

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Nails:
hypoplastic toenails

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
11 rib pairs

Genitourinary External Genitalia Male:
micropenis
small scrotum
scrotal hydrocele

Cardiovascular Vascular:
supravalvular aortic stenosis

Respiratory Airways:
stridor
chronic bronchitis

Endocrine Features:
growth hormone deficiency

Muscle Soft Tissue:
hypotonia

Head And Neck Teeth:
delayed tooth eruption

Chest External Features:
nipple abnormalities

Growth Other:
failure to thrive
large for gestational age

Neurologic Central Nervous System:
hydrocephalus
spinal canal stenosis
dilated ventricles
psychomotor delay
chiari type i malformation
more
Head And Neck Ears:
hearing impairment
low-set ears
posteriorly rotated ears
thick ears
labyrinth dysplasia

Growth Height:
short stature

Cardiovascular Heart:
congestive heart failure
tetralogy of fallot
ventricular septal defect
pulmonic stenosis
atrioventricular septal defect

Head And Neck Face:
micrognathia
broad forehead
deeply grooved philtrum
bitemporal constriction

Head And Neck Head:
low posterior hairline
macrocephaly, relative or absolute

Hematology:
thrombocytopenia
lymphopenia

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Respiratory Lung:
respiratory failure
pulmonary edema
meconium aspiration syndrome

Genitourinary Kidneys:
abnormal renal morphology
duplicated kidney

Skin Nails Hair Hair:
curly hair

Head And Neck Nose:
broad nasal bridge
broad nasal root

Head And Neck Mouth:
gingival hyperplasia

Clinical features from OMIM®:

618624 (Updated 05-Mar-2021)

Drugs & Therapeutics for Noonan Syndrome 12

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome 12

Genetic Tests for Noonan Syndrome 12

Genetic tests related to Noonan Syndrome 12:

# Genetic test Affiliating Genes
1 Noonan Syndrome 12 29 RRAS2

Anatomical Context for Noonan Syndrome 12

MalaCards organs/tissues related to Noonan Syndrome 12:

40
Heart, Kidney

Publications for Noonan Syndrome 12

Articles related to Noonan Syndrome 12:

(show all 14)
# Title Authors PMID Year
1
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome. 6 57
31130285 2019
2
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. 6 57
31130282 2019
3
A human oncogene of the RAS superfamily unmasked by expression cDNA cloning. 6
8052619 1994
4
Runella aurantiaca sp. nov., isolated from sludge of a manganese mine. 61
31120415 2020
5
Identification of a novel membrane-associated protein from the S7 segment of grass carp reovirus. 61
30688636 2019
6
Motor performance in children with Noonan syndrome. 61
28627718 2017
7
Exhaustive study of the novel hyper alkalophil, thermostable, and chelator resistant metalloprotease. 61
25820296 2015
8
Effects of NS Lactobacillus strains on lipid metabolism of rats fed a high-cholesterol diet. 61
23656797 2013
9
Azorhizobium oxalatiphilum sp. nov., and emended description of the genus Azorhizobium. 61
22888185 2013
10
IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene. 61
23624134 2013
11
Timing of insemination using sex-sorted sperm in embryo production with Bos indicus and Bos taurus superovulated donors. 61
21907504 2011
12
[Isolation of Achromobacter xylosoxidans NS12 and degradation of nitrophenols]. 61
17489210 2007
13
Runella zeae sp. nov., a novel gram-negative bacterium from the stems of surface-sterilized Zea mays. 61
12508869 2002
14
Induction of rotavirus-specific cytotoxic T lymphocytes by vaccinia virus recombinants expressing individual rotavirus genes. 61
8259644 1994

Variations for Noonan Syndrome 12

ClinVar genetic disease variations for Noonan Syndrome 12:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RRAS2 NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) SNV Pathogenic 9447 rs113954997 11:14316390-14316390 11:14294844-14294844
2 RRAS2 NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) SNV Pathogenic 626912 rs782457908 11:14316397-14316397 11:14294851-14294851
3 RRAS2 NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) Duplication Pathogenic 626913 rs1591495767 11:14380338-14380339 11:14358792-14358793

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 12:

73
# Symbol AA change Variation ID SNP ID
1 RRAS2 p.Gln72Leu VAR_006848 rs113954997
2 RRAS2 p.Gly23Val VAR_083149
3 RRAS2 p.Ala70Thr VAR_083152 rs782457908
4 RRAS2 p.Gln72His VAR_083153

Expression for Noonan Syndrome 12

Search GEO for disease gene expression data for Noonan Syndrome 12.

Pathways for Noonan Syndrome 12

GO Terms for Noonan Syndrome 12

Sources for Noonan Syndrome 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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