NS12
MCID: NNN034
MIFTS: 21

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 56 6
Ns12 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 56 618624
OMIM Phenotypic Series 56 PS163950

Summaries for Noonan Syndrome 12

OMIM : 56 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)

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, kidney and testes.

Related Diseases for Noonan Syndrome 12

Symptoms & Phenotypes for Noonan Syndrome 12

Symptoms via clinical synopsis from OMIM:

56
Skeletal Skull:
macrocephaly

Head And Neck Ears:
low-set ears
hearing impairment
posteriorly rotated ears
thick ears
labyrinth dysplasia

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

Growth Other:
failure to thrive
large for gestational age

Growth Height:
short stature

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Nails:
hypoplastic toenails

Hematology:
thrombocytopenia
lymphopenia

Respiratory Lung:
respiratory failure
pulmonary edema
meconium aspiration syndrome

Skin Nails Hair Hair:
curly hair

Genitourinary Kidneys:
abnormal renal morphology
duplicated kidney

Head And Neck Nose:
broad nasal bridge
broad nasal root

Head And Neck Teeth:
delayed tooth eruption

Chest External Features:
nipple abnormalities

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

Neurologic Central Nervous System:
hydrocephalus
spinal canal stenosis
dilated ventricles
psychomotor delay
chiari type i malformation
more
Abdomen Gastrointestinal:
inguinal hernia
feeding difficulties
gastroesophageal reflux
anteriorly placed anus

Genitourinary Internal Genitalia Male:
cryptorchidism

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

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

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

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 Mouth:
gingival hyperplasia

Clinical features from OMIM:

618624

Drugs & Therapeutics for Noonan Syndrome 12

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome 12

Genetic Tests for Noonan Syndrome 12

Anatomical Context for Noonan Syndrome 12

MalaCards organs/tissues related to Noonan Syndrome 12:

40
Heart, Kidney, Testes

Publications for Noonan Syndrome 12

Articles related to Noonan Syndrome 12:

(show all 17)
# Title Authors PMID Year
1
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. 6 56
31130282 2019
2
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome. 6 56
31130285 2019
3
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 6
25173338 2014
4
Noonan syndrome: clinical features, diagnosis, and management guidelines. 6
20876176 2010
5
Leopard syndrome. 6
18505544 2008
6
Noonan Syndrome 6
20301303 2001
7
Runella aurantiaca sp. nov., isolated from sludge of a manganese mine. 61
31120415 2019
8
Identification of a novel membrane-associated protein from the S7 segment of grass carp reovirus. 61
30688636 2019
9
Motor performance in children with Noonan syndrome. 61
28627718 2017
10
Exhaustive study of the novel hyper alkalophil, thermostable, and chelator resistant metalloprotease. 61
25820296 2015
11
Effects of NS Lactobacillus strains on lipid metabolism of rats fed a high-cholesterol diet. 61
23656797 2013
12
Azorhizobium oxalatiphilum sp. nov., and emended description of the genus Azorhizobium. 61
22888185 2013
13
IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene. 61
23624134 2013
14
Timing of insemination using sex-sorted sperm in embryo production with Bos indicus and Bos taurus superovulated donors. 61
21907504 2011
15
[Isolation of Achromobacter xylosoxidans NS12 and degradation of nitrophenols]. 61
17489210 2007
16
Runella zeae sp. nov., a novel gram-negative bacterium from the stems of surface-sterilized Zea mays. 61
12508869 2002
17
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.208G>A (p.Ala70Thr)SNV Pathogenic 626912 11:14316397-14316397 11:14294851-14294851
2 RRAS2 NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)duplication Pathogenic 626913 11:14380339-14380347 11:14358797-14358805

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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