Noonan Syndrome 12 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Noonan Syndrome 12

MalaCards integrated aliases for Noonan Syndrome 12:

Name: Noonan Syndrome 12 ⁵⁶ ⁷³ ⁶

Ns12 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Neuronal diseases Eye diseases Cardiovascular diseases Nephrological diseases Reproductive diseases Skin diseases Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618624

OMIM Phenotypic Series ⁵⁶ PS163950

MeSH ⁴³ D009634

MedGen ⁴¹ CN262440

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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, skin and kidney.

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)

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Related Diseases for Noonan Syndrome 12

Diseases in the Noonan Syndrome 1 family:

Noonan Syndrome 2	Noonan Syndrome 3
Noonan Syndrome 4	Noonan Syndrome 5
Noonan Syndrome 6	Noonan Syndrome 7
Noonan Syndrome 8	Noonan Syndrome 9
Noonan Syndrome 10	Noonan Syndrome 11
Noonan Syndrome 12

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Symptoms & Phenotypes for Noonan Syndrome 12

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Head And Neck Eyes:
hypertelorism
strabismus
ptosis
myopia
epicanthal folds
more

Skeletal Skull:
macrocephaly

Growth Height:
short stature

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

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

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

Growth Other:
failure to thrive
large for gestational age

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

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Drugs & Therapeutics for Noonan Syndrome 12

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome 12

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Genetic Tests for Noonan Syndrome 12

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Anatomical Context for Noonan Syndrome 12

MalaCards organs/tissues related to Noonan Syndrome 12:

⁴⁰

Heart, Skin, Kidney, Testes

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Publications for Noonan Syndrome 12

Articles related to Noonan Syndrome 12:

(showing 18, show less)

#	Title	Authors	PMID	Year
1	Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. ⁵⁶ ⁶	Capri Y...Zenker M	31130282	2019
2	Germline-Activating RRAS2 Mutations Cause Noonan Syndrome. ⁵⁶ ⁶	Niihori T...Aoki Y	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	Authors/Task Force members...Watkins H	25173338	2014
4	Noonan syndrome: clinical features, diagnosis, and management guidelines. ⁶	Romano AA...Noonan JA	20876176	2010
5	Leopard syndrome. ⁶	Sarkozy A...Dallapiccola B	18505544	2008
6	Noonan Syndrome ⁶	Allanson JE...Roberts AE	20301303	2001
7	A human oncogene of the RAS superfamily unmasked by expression cDNA cloning. ⁶	Chan AM...Aaronson SA	8052619	1994
8	Runella aurantiaca sp. nov., isolated from sludge of a manganese mine. ⁶¹	Yang X...Wang G	31120415	2020
9	Identification of a novel membrane-associated protein from the S7 segment of grass carp reovirus. ⁶¹	Yu F...Lu L	30688636	2019
10	Motor performance in children with Noonan syndrome. ⁶¹	Croonen EA...Nijhuis-van der Sanden MWG	28627718	2017
11	Exhaustive study of the novel hyper alkalophil, thermostable, and chelator resistant metalloprotease. ⁶¹	Samie N...Ashouri M	25820296	2015
12	Effects of NS Lactobacillus strains on lipid metabolism of rats fed a high-cholesterol diet. ⁶¹	Hu X...Wang L	23656797	2013
13	Azorhizobium oxalatiphilum sp. nov., and emended description of the genus Azorhizobium. ⁶¹	Lang E...Sahin N	22888185	2013
14	IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene. ⁶¹	Bertelloni S...Simi P	23624134	2013
15	Timing of insemination using sex-sorted sperm in embryo production with Bos indicus and Bos taurus superovulated donors. ⁶¹	Soares JG...Baruselli PS	21907504	2011
16	[Isolation of Achromobacter xylosoxidans NS12 and degradation of nitrophenols]. ⁶¹	Wan NS...Gao CD	17489210	2007
17	Runella zeae sp. nov., a novel gram-negative bacterium from the stems of surface-sterilized Zea mays. ⁶¹	Chelius MK...Triplett EW	12508869	2002
18	Induction of rotavirus-specific cytotoxic T lymphocytes by vaccinia virus recombinants expressing individual rotavirus genes. ⁶¹	Offit PA...Both GW	8259644	1994

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Genes for Noonan Syndrome 12

Genes related to Noonan Syndrome 12 (1 elite genes):

(showing 1, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RRAS2	RAS Related 2	Protein Coding	1217.34	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	25173338 8052619 20301303 (more) 31130282 31130285 20876176

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Variations for Noonan Syndrome 12

ClinVar genetic disease variations for Noonan Syndrome 12:

⁶ (showing 3, show less) ‎‎ ‎‎ ‎‎

#	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		11:14380338-14380339	11:14358792-14358793
3	RRAS2	NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu)	SNV	Pathogenic	9447	rs113954997	11:14316390-14316390	11:14294844-14294844

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

⁷³ (showing 4, show less)

#	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
4	RRAS2	p.Gln72His	VAR_083153

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Expression for Noonan Syndrome 12

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

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Pathways for Noonan Syndrome 12

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GO Terms for Noonan Syndrome 12

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Noonan Syndrome 12 (NS12)

Aliases & Classifications for Noonan Syndrome 12

MalaCards integrated aliases for Noonan Syndrome 12:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Noonan Syndrome 12

Related Diseases for Noonan Syndrome 12

Diseases in the Noonan Syndrome 1 family:

Symptoms & Phenotypes for Noonan Syndrome 12

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Noonan Syndrome 12

Genetic Tests for Noonan Syndrome 12

Anatomical Context for Noonan Syndrome 12

MalaCards organs/tissues related to Noonan Syndrome 12:

Publications for Noonan Syndrome 12

Articles related to Noonan Syndrome 12:

Genes for Noonan Syndrome 12

Genes related to Noonan Syndrome 12 (1 elite genes):

Variations for Noonan Syndrome 12

ClinVar genetic disease variations for Noonan Syndrome 12:

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

Expression for Noonan Syndrome 12

Pathways for Noonan Syndrome 12

GO Terms for Noonan Syndrome 12

Sources for Noonan Syndrome 12