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 ⁵⁷ ¹² ⁷⁵ ²⁹ ¹³ ⁶ ¹⁵ ⁷³

Ns7 ⁵⁷ ¹² ⁷⁵

Noonan Syndrome, Type 7 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

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: ³³

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:

OMIM ⁵⁷ 613706

Disease Ontology ¹² DOID:0060585

ICD10 ³³ Q87.1

MedGen ⁴² C3150970

MeSH ⁴⁴ D009634

UMLS ⁷³ C3150970

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Summaries for Noonan Syndrome 7

UniProtKB/Swiss-Prot : ⁷⁵ 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 noonan syndrome 1. An important gene associated with Noonan Syndrome 7 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). Affiliated tissues include skin, heart and eye, and related phenotypes are hypertelorism and low-set ears

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

OMIM : ⁵⁷ 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	noonan syndrome 1	9.7	BRAF CTTNBP2

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Symptoms & Phenotypes for Noonan Syndrome 7

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Noonan Syndrome 7:

³² (show all 20)

#	Description	HPO Frequency	HPO Source Accession
1	hypertelorism ³²		HP:0000316
2	low-set ears ³²		HP:0000369
3	short neck ³²		HP:0000470
4	intellectual disability ³²		HP:0001249
5	dysphagia ³²		HP:0002015
6	scoliosis ³²	occasional (7.5%)	HP:0002650
7	depressed nasal bridge ³²		HP:0005280
8	pectus carinatum ³²	very rare (1%)	HP:0000768
9	short stature ³²		HP:0004322
10	cognitive impairment ³²		HP:0100543
11	prominent forehead ³²		HP:0011220
12	dolichocephaly ³²		HP:0000268
13	webbed neck ³²		HP:0000465
14	atrial septal defect ³²	very rare (1%)	HP:0001631
15	pulmonic stenosis ³²	very rare (1%)	HP:0001642
16	thickened helices ³²		HP:0000391
17	generalized hypotonia ³²		HP:0001290
18	poor suck ³²		HP:0002033
19	hyperpigmentation of the skin ³²	very rare (1%)	HP:0000953
20	narrow forehead ³²		HP:0000341

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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 ²⁹	BRAF

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Anatomical Context for Noonan Syndrome 7

MalaCards organs/tissues related to Noonan Syndrome 7:

⁴¹

Skin, Heart, 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

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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 ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	19206169 20301303 20876176
2	BACE1	Beta-Secretase 1	Protein Coding	17.76	DISEASES inferred ¹⁵ ¹⁵
3	PLA2G12A	Phospholipase A2 Group XIIA	Protein Coding	16.37	DISEASES inferred ¹⁵
4	CTTNBP2	Cortactin Binding Protein 2	Protein Coding	15.9	DISEASES inferred ¹⁵
5	CNOT3	CCR4-NOT Transcription Complex Subunit 3	Protein Coding	15.06	DISEASES inferred ¹⁵

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Variations for Noonan Syndrome 7

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

⁷⁵

#	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 14)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BRAF	NM_004333.4(BRAF): c.1789C> G (p.Leu597Val)	single nucleotide variant	Pathogenic	rs121913369	GRCh37	Chromosome 7, 140453146: 140453146
2	BRAF	NM_004333.4(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.722C> T (p.Thr241Met)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387906660	GRCh37	Chromosome 7, 140501350: 140501350
6	BRAF	NM_004333.5(BRAF): c.722C> T (p.Thr241Met)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387906660	GRCh38	Chromosome 7, 140801550: 140801550
7	BRAF	NM_004333.4(BRAF): c.722C> G (p.Thr241Arg)	single nucleotide variant	Pathogenic	rs387906660	GRCh37	Chromosome 7, 140501350: 140501350
8	BRAF	NM_004333.4(BRAF): c.722C> G (p.Thr241Arg)	single nucleotide variant	Pathogenic	rs387906660	GRCh38	Chromosome 7, 140801550: 140801550
9	BRAF	NM_004333.4(BRAF): c.721A> C (p.Thr241Pro)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387906661	GRCh37	Chromosome 7, 140501351: 140501351
10	BRAF	NM_004333.4(BRAF): c.721A> C (p.Thr241Pro)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387906661	GRCh38	Chromosome 7, 140801551: 140801551
11	BRAF	NM_004333.4(BRAF): c.1593G> C (p.Trp531Cys)	single nucleotide variant	Pathogenic	rs606231228	GRCh38	Chromosome 7, 140777013: 140777013
12	BRAF	NM_004333.4(BRAF): c.1593G> C (p.Trp531Cys)	single nucleotide variant	Pathogenic	rs606231228	GRCh37	Chromosome 7, 140476813: 140476813
13	BRAF	NM_004333.4(BRAF): c.735A> C (p.Leu245Phe)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397507466	GRCh37	Chromosome 7, 140501337: 140501337
14	BRAF	NM_004333.4(BRAF): c.735A> C (p.Leu245Phe)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397507466	GRCh38	Chromosome 7, 140801537: 140801537

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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

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GO Terms for Noonan Syndrome 7

Cellular components related to Noonan Syndrome 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	synaptic vesicle	GO:0008021	8.62	BACE1 CTTNBP2

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⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Noonan Syndrome 7:

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

GO Terms for Noonan Syndrome 7

Cellular components related to Noonan Syndrome 7 according to GeneCards Suite gene sharing:

Sources for Noonan Syndrome 7