Noonan Syndrome 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Noonan Syndrome 7

MalaCards integrated aliases for Noonan Syndrome 7:

Name: Noonan Syndrome 7 ⁵⁸ ¹² ⁷⁶ ³⁰ ¹³ ⁶ ¹⁵ ⁷⁴

Ns7 ⁵⁸ ¹² ⁷⁶

Noonan Syndrome, Type 7 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

noonan syndrome 7:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

External Ids:

Disease Ontology ¹² DOID:0060585

OMIM ⁵⁸ 613706

MeSH ⁴⁵ D009634

ICD10 ³⁴ Q87.1

MedGen ⁴³ C3150970

UMLS ⁷⁴ C3150970

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Summaries for Noonan Syndrome 7

UniProtKB/Swiss-Prot : ⁷⁶ Noonan syndrome 7: 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.

MalaCards based summary : Noonan Syndrome 7, also known as ns7, is related to noonan syndrome 6 and adrenocortical carcinoma, hereditary. An important gene associated with Noonan Syndrome 7 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Vascular smooth muscle contraction and Development A2B receptor- action via G-protein alpha s. Affiliated tissues include skin and eye, and related phenotypes are scoliosis and pectus carinatum

Disease Ontology : ¹² A Noonan syndrome that has_material_basis in heterozygous mutation in the BRAF gene.

OMIM : ⁵⁸ Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009). (613706)

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Related Diseases for Noonan Syndrome 7

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

Diseases related to Noonan Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	noonan syndrome 6	10.1
2	adrenocortical carcinoma, hereditary	9.7	BRAF CREB1

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Symptoms & Phenotypes for Noonan Syndrome 7

Human phenotypes related to Noonan Syndrome 7:

³³ (show all 20)

#	Description	HPO Frequency	HPO Source Accession
1	scoliosis ³³	occasional (7.5%)	HP:0002650
2	pectus carinatum ³³	very rare (1%)	HP:0000768
3	atrial septal defect ³³	very rare (1%)	HP:0001631
4	pulmonic stenosis ³³	very rare (1%)	HP:0001642
5	hyperpigmentation of the skin ³³	very rare (1%)	HP:0000953
6	hypertelorism ³³		HP:0000316
7	low-set ears ³³		HP:0000369
8	short neck ³³		HP:0000470
9	intellectual disability ³³		HP:0001249
10	dysphagia ³³		HP:0002015
11	depressed nasal bridge ³³		HP:0005280
12	short stature ³³		HP:0004322
13	cognitive impairment ³³		HP:0100543
14	prominent forehead ³³		HP:0011220
15	dolichocephaly ³³		HP:0000268
16	webbed neck ³³		HP:0000465
17	thickened helices ³³		HP:0000391
18	generalized hypotonia ³³		HP:0001290
19	poor suck ³³		HP:0002033
20	narrow forehead ³³		HP:0000341

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
hypertelorism

Head And Neck Neck:
short neck
webbed neck

Growth Height:
short stature

Abdomen Gastrointestinal:
feeding difficulties
poor suck
poor swallowing

Neurologic Central Nervous System:
hypotonia
cognitive deficits, mild to moderate

Head And Neck Head:
dolicocephaly

Chest External Features:
broad chest

Skeletal Hands:
small joint hyperextensibility

Head And Neck Ears:
low-set ears
thick helix

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus carinatum (in some patients)

Head And Neck Face:
prominent forehead
bitemporal narrowing

Cardiovascular Heart:
congenital heart defects (in some patients)

Head And Neck Nose:
flat nasal bridge

Skeletal Spine:
scoliosis (in some patients)

Growth Other:
neonatal growth failure

Skin Nails Hair Skin:
hyperpigmented cutaneous lesions (in some patients)

Clinical features from OMIM:

613706

GenomeRNAi Phenotypes related to Noonan Syndrome 7 according to GeneCards Suite gene sharing:

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability ratio	GR00368-A	9.02	BRAF CREB1 CTTNBP2 PAH PLA2G12A

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Drugs & Therapeutics for Noonan Syndrome 7

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Comparison Between a Non-elastic Falcro Device and Current Method After Total Knee Arthroplasty	Completed	NCT02375945	Phase 4

Search NIH Clinical Center for Noonan Syndrome 7

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Genetic Tests for Noonan Syndrome 7

Genetic tests related to Noonan Syndrome 7:

#	Genetic test	Affiliating Genes
1	Noonan Syndrome 7 ³⁰	BRAF

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Anatomical Context for Noonan Syndrome 7

MalaCards organs/tissues related to Noonan Syndrome 7:

⁴²

Skin, Eye

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Publications for Noonan Syndrome 7

Articles related to Noonan Syndrome 7:

#	Title	Authors	Year
1	Nucleolin interacts with the feline calicivirus 3' untranslated region and the protease-polymerase NS6 and NS7 proteins, playing a role in virus replication. ( 21680514 )	Cancio-Lonches C...Guti?rrez-Escolano AL	2011
2	Noonan syndrome: clinical features, diagnosis, and management guidelines. ( 20876176 )	Romano AA...Noonan JA	2010
3	Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. ( 19206169 )	Sarkozy A...Tartaglia M	2009

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Genes for Noonan Syndrome 7

Genes related to Noonan Syndrome 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1327.7	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	20301303 20876176 19206169
2	PLA2G12A	Phospholipase A2 Group XIIA	Protein Coding	16.34	DISEASES inferred ¹⁵
3	CTTNBP2	Cortactin Binding Protein 2	Protein Coding	15.87	DISEASES inferred ¹⁵
4	CNOT3	CCR4-NOT Transcription Complex Subunit 3	Protein Coding	15.02	DISEASES inferred ¹⁵
5	PAH	Phenylalanine Hydroxylase	Protein Coding	14.94	DISEASES inferred ¹⁵
6	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	14.94	DISEASES inferred ¹⁵

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Variations for Noonan Syndrome 7

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 7:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	BRAF	p.Leu597Val	VAR_018627	rs121913369
2	BRAF	p.Trp531Cys	VAR_058627	rs606231228

ClinVar genetic disease variations for Noonan Syndrome 7:

⁶ (show all 28)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BRAF	NM_004333.5(BRAF): c.1789C> G (p.Leu597Val)	single nucleotide variant	Pathogenic	rs121913369	GRCh37	Chromosome 7, 140453146: 140453146
2	BRAF	NM_004333.5(BRAF): c.1789C> G (p.Leu597Val)	single nucleotide variant	Pathogenic	rs121913369	GRCh38	Chromosome 7, 140753346: 140753346
3	BRAF	NM_004333.4(BRAF): c.1501G> A (p.Glu501Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs180177038	GRCh37	Chromosome 7, 140477807: 140477807
4	BRAF	NM_004333.4(BRAF): c.1501G> A (p.Glu501Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs180177038	GRCh38	Chromosome 7, 140778007: 140778007
5	BRAF	NM_004333.5(BRAF): c.1914T> A (p.Asp638Glu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs180177042	GRCh37	Chromosome 7, 140449165: 140449165
6	BRAF	NM_004333.5(BRAF): c.1914T> A (p.Asp638Glu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs180177042	GRCh38	Chromosome 7, 140749365: 140749365
7	BRAF	NM_004333.5(BRAF): c.722C> T (p.Thr241Met)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387906660	GRCh37	Chromosome 7, 140501350: 140501350
8	BRAF	NM_004333.5(BRAF): c.722C> T (p.Thr241Met)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387906660	GRCh38	Chromosome 7, 140801550: 140801550
9	BRAF	NM_004333.4(BRAF): c.722C> G (p.Thr241Arg)	single nucleotide variant	Pathogenic	rs387906660	GRCh37	Chromosome 7, 140501350: 140501350
10	BRAF	NM_004333.4(BRAF): c.722C> G (p.Thr241Arg)	single nucleotide variant	Pathogenic	rs387906660	GRCh38	Chromosome 7, 140801550: 140801550
11	BRAF	NM_004333.4(BRAF): c.721A> C (p.Thr241Pro)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387906661	GRCh37	Chromosome 7, 140501351: 140501351
12	BRAF	NM_004333.4(BRAF): c.721A> C (p.Thr241Pro)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387906661	GRCh38	Chromosome 7, 140801551: 140801551
13	BRAF	NM_004333.5(BRAF): c.1593G> C (p.Trp531Cys)	single nucleotide variant	Pathogenic	rs606231228	GRCh38	Chromosome 7, 140777013: 140777013
14	BRAF	NM_004333.5(BRAF): c.1593G> C (p.Trp531Cys)	single nucleotide variant	Pathogenic	rs606231228	GRCh37	Chromosome 7, 140476813: 140476813
15	BRAF	NM_004333.4(BRAF): c.735A> C (p.Leu245Phe)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397507466	GRCh37	Chromosome 7, 140501337: 140501337
16	BRAF	NM_004333.4(BRAF): c.735A> C (p.Leu245Phe)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397507466	GRCh38	Chromosome 7, 140801537: 140801537
17	BRAF	NM_004333.5(BRAF): c.1237G> A (p.Val413Met)	single nucleotide variant	Uncertain significance	rs377093637	GRCh37	Chromosome 7, 140482898: 140482898
18	BRAF	NM_004333.5(BRAF): c.1237G> A (p.Val413Met)	single nucleotide variant	Uncertain significance	rs377093637	GRCh38	Chromosome 7, 140783098: 140783098
19	BRAF	NM_004333.4(BRAF): c.1743T> A (p.Asn581Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397516895	GRCh37	Chromosome 7, 140453192: 140453192
20	BRAF	NM_004333.4(BRAF): c.1743T> A (p.Asn581Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397516895	GRCh38	Chromosome 7, 140753392: 140753392
21	BRAF	NM_004333.5(BRAF): c.1166G> A (p.Arg389His)	single nucleotide variant	Uncertain significance	rs577372072	GRCh37	Chromosome 7, 140487359: 140487359
22	BRAF	NM_004333.5(BRAF): c.1166G> A (p.Arg389His)	single nucleotide variant	Uncertain significance	rs577372072	GRCh38	Chromosome 7, 140787559: 140787559
23	BRAF	NM_004333.5(BRAF): c.437G> A (p.Arg146Gln)	single nucleotide variant	Uncertain significance	rs557241012	GRCh37	Chromosome 7, 140534476: 140534476
24	BRAF	NM_004333.5(BRAF): c.437G> A (p.Arg146Gln)	single nucleotide variant	Uncertain significance	rs557241012	GRCh38	Chromosome 7, 140834676: 140834676
25	BRAF	NM_004333.5(BRAF): c.1940A> G (p.Tyr647Cys)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 7, 140449139: 140449139
26	BRAF	NM_004333.5(BRAF): c.1940A> G (p.Tyr647Cys)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 7, 140749339: 140749339
27	BRAF	NM_004333.5(BRAF): c.1387A> G (p.Ile463Val)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 7, 140781621: 140781621
28	BRAF	NM_004333.5(BRAF): c.1387A> G (p.Ile463Val)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 7, 140481421: 140481421

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Expression for Noonan Syndrome 7

Search GEO for disease gene expression data for Noonan Syndrome 7.

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Pathways for Noonan Syndrome 7

Pathways related to Noonan Syndrome 7 according to GeneCards Suite gene sharing:

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Vascular smooth muscle contraction ³⁸ Show member pathways cGMP-PKG signaling pathway ³⁸ Oxytocin signaling pathway ³⁸	12.15	BRAF CREB1 PLA2G12A
2	Development A2B receptor- action via G-protein alpha s ²³ Show member pathways Development A2A receptor signaling ²³	11.59	BRAF CREB1
3	Parathyroid hormone synthesis, secretion and action ³⁸	11.5	BRAF CREB1
4	ErbB1 downstream signaling ¹	11.47	BRAF CREB1
5	TGF-beta Signaling Pathways ⁶⁶	11.42	BRAF CREB1
6	Corticotropin-releasing hormone signaling pathway ¹	11.37	BRAF CREB1
7	Human Thyroid Stimulating Hormone (TSH) signaling pathway ¹	11.2	BRAF CREB1
8	BDNF-TrkB Signaling ¹	10.79	BRAF CREB1
9	Trk receptor signaling mediated by the MAPK pathway ¹ Show member pathways Signalling to ERK5 ⁶⁷	10.65	BRAF CREB1
10	Estrogen signaling pathway ¹	10.32	BRAF CREB1
11	Serotonin Receptor 4/6/7 and NR3C Signaling ¹	9.9	BRAF CREB1

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GO Terms for Noonan Syndrome 7

Biological processes related to Noonan Syndrome 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	visual learning	GO:0008542	8.96	BRAF CREB1
2	cellular response to nerve growth factor stimulus	GO:1990090	8.62	BRAF CREB1

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⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Noonan Syndrome 7 (NS7)

Aliases & Classifications for Noonan Syndrome 7

MalaCards integrated aliases for Noonan Syndrome 7:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Noonan Syndrome 7

Related Diseases for Noonan Syndrome 7

Diseases in the Noonan Syndrome 1 family:

Diseases related to Noonan Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Noonan Syndrome 7

Human phenotypes related to Noonan Syndrome 7:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Noonan Syndrome 7 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Noonan Syndrome 7

Interventional clinical trials:

Genetic Tests for Noonan Syndrome 7

Genetic tests related to Noonan Syndrome 7:

Anatomical Context for Noonan Syndrome 7

MalaCards organs/tissues related to Noonan Syndrome 7:

Publications for Noonan Syndrome 7

Articles related to Noonan Syndrome 7:

Genes for Noonan Syndrome 7

Genes related to Noonan Syndrome 7 (1 elite genes):

Variations for Noonan Syndrome 7

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 7:

ClinVar genetic disease variations for Noonan Syndrome 7:

Expression for Noonan Syndrome 7

Pathways for Noonan Syndrome 7

Pathways related to Noonan Syndrome 7 according to GeneCards Suite gene sharing:

GO Terms for Noonan Syndrome 7

Biological processes related to Noonan Syndrome 7 according to GeneCards Suite gene sharing:

Sources for Noonan Syndrome 7