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

NS7 MCID: NNN020 MIFTS: 39	Noonan Syndrome 7 (NS7) Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Noonan Syndrome 7

MalaCards integrated aliases for Noonan Syndrome 7:

Name: Noonan Syndrome 7 ⁵⁷ ¹² ⁷² ²⁹ ¹³ ⁶ ¹⁵ ⁷⁰

Ns7 ⁵⁷ ¹² ⁷²

Noonan Syndrome, Type 7 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal dominant

HPO:

³¹

noonan syndrome 7:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

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® ⁵⁷ 613706

OMIM Phenotypic Series ⁵⁷ PS163950

MeSH ⁴⁴ D009634

ICD10 ³² Q87.1

MedGen ⁴¹ C3150970

UMLS ⁷⁰ C3150970

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Summaries for Noonan Syndrome 7

UniProtKB/Swiss-Prot : ⁷² 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 microphthalmia, syndromic 10 and nonparalytic poliomyelitis. An important gene associated with Noonan Syndrome 7 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Translation Factors and PIWI-interacting RNA (piRNA) biogenesis. Affiliated tissues include eye and heart, and related phenotypes are macrocephaly and intellectual disability

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) (Updated 20-May-2021)

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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	Noonan Syndrome 11
Noonan Syndrome 12	Noonan Syndrome 13

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

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	microphthalmia, syndromic 10	10.1	CTTNBP2 ASZ1
2	nonparalytic poliomyelitis	10.1	EIF4G1 DYNLT1
3	noonan syndrome 2	10.0	PPP1CA IFIH1 ASZ1
4	gastroenteritis	10.0
5	singleton-merten syndrome	10.0	IFIH1 DDX58
6	paralytic poliomyelitis	10.0	IFIH1 EIF4G1 DYNLT1
7	croup	9.9	IFIH1 DDX58
8	sting-associated vasculopathy with onset in infancy	9.9	IFIH1 DDX58
9	type 1 diabetes mellitus 20	9.8	IFIH1 DDX58
10	poliomyelitis	9.8	IFIH1 EIF4G1 DDX58
11	coronavirus infectious disease	9.7	PPP1CA IFIH1 DDX58 ASZ1
12	lassa fever	9.7	IFIH1 DDX58
13	noonan syndrome 4	9.5	POLR2B ITPA DDX58 CTTNBP2
14	mouth disease	9.1	IFIH1 EIF4G1 EIF4E EIF3B DDX58
15	rasopathy	8.7	SCN5A PPP1CA POLR2B ITPA IFIH1 DDX58

Graphical network of the top 20 diseases related to Noonan Syndrome 7:

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Symptoms & Phenotypes for Noonan Syndrome 7

Human phenotypes related to Noonan Syndrome 7:

³¹ (show all 43)

#	Description	HPO Frequency	HPO Source Accession
1	macrocephaly ³¹	very rare (1%)	HP:0000256
2	intellectual disability ³¹	very rare (1%)	HP:0001249
3	scoliosis ³¹	very rare (1%)	HP:0002650
4	hyperhidrosis ³¹	very rare (1%)	HP:0000975
5	short neck ³¹	very rare (1%)	HP:0000470
6	depressed nasal bridge ³¹	very rare (1%)	HP:0005280
7	hypertelorism ³¹	very rare (1%)	HP:0000316
8	thick vermilion border ³¹	very rare (1%)	HP:0012471
9	short stature ³¹	very rare (1%)	HP:0004322
10	prominent forehead ³¹	very rare (1%)	HP:0011220
11	strabismus ³¹	very rare (1%)	HP:0000486
12	cubitus valgus ³¹	very rare (1%)	HP:0002967
13	low-set ears ³¹	very rare (1%)	HP:0000369
14	webbed neck ³¹	very rare (1%)	HP:0000465
15	shield chest ³¹	very rare (1%)	HP:0000914
16	low posterior hairline ³¹	very rare (1%)	HP:0002162
17	pectus excavatum ³¹	very rare (1%)	HP:0000767
18	atrial septal defect ³¹	very rare (1%)	HP:0001631
19	joint hypermobility ³¹	very rare (1%)	HP:0001382
20	downslanted palpebral fissures ³¹	very rare (1%)	HP:0000494
21	pulmonic stenosis ³¹	very rare (1%)	HP:0001642
22	large earlobe ³¹	very rare (1%)	HP:0009748
23	thickened helices ³¹	very rare (1%)	HP:0000391
24	large for gestational age ³¹	very rare (1%)	HP:0001520
25	deep palmar crease ³¹	very rare (1%)	HP:0006191
26	poor suck ³¹	very rare (1%)	HP:0002033
27	generalized hypotonia ³¹	very rare (1%)	HP:0001290
28	impaired oropharyngeal swallow response ³¹	very rare (1%)	HP:0031162
29	curly hair ³¹	very rare (1%)	HP:0002212
30	narrow forehead ³¹	very rare (1%)	HP:0000341
31	numerous nevi ³¹	very rare (1%)	HP:0001054
32	abnormal esophagus morphology ³¹	very rare (1%)	HP:0002031
33	abnormality of the chin ³¹	very rare (1%)	HP:0000306
34	nasogastric tube feeding in infancy ³¹	very rare (1%)	HP:0011470
35	seizure ³¹	very rare (1%)	HP:0001250
36	palpebral thickening ³¹	very rare (1%)	HP:0030939
37	lentigo maligna melanoma ³¹	very rare (1%)	HP:0012059
38	dysphagia ³¹		HP:0002015
39	pectus carinatum ³¹		HP:0000768
40	feeding difficulties in infancy ³¹		HP:0008872
41	cognitive impairment ³¹		HP:0100543
42	dolichocephaly ³¹		HP:0000268
43	hypotonia ³¹		HP:0001252

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Head And Neck Neck:
short neck
webbed neck

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

Head And Neck Face:
prominent forehead
bitemporal narrowing

Abdomen Gastrointestinal:
feeding difficulties
poor suck
poor swallowing

Cardiovascular Heart:
congenital heart defects (in some patients)

Head And Neck Head:
dolicocephaly

Chest External Features:
broad chest

Skeletal Hands:
small joint hyperextensibility

Head And Neck Eyes:
hypertelorism

Growth Height:
short stature

Head And Neck Ears:
low-set ears
thick helix

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

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 (Updated 20-May-2021)

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

²⁶ (show all 15)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-109	9.55	GADD45G
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	9.55	GADD45G
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-149	9.55	BRAF
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-174	9.55	GADD45G
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-184	9.55	POLR2B
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-19	9.55	EIF4E EIF4G1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-196	9.55	GADD45G
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-198	9.55	GADD45G
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-212	9.55	EIF4E
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-215	9.55	POLR2B
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-23	9.55	GADD45G
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-47	9.55	BRAF
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	9.55	EIF4E EIF4G1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-68	9.55	EIF4G1
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-94	9.55	EIF4G1

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Drugs & Therapeutics for Noonan Syndrome 7

Search Clinical Trials , 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:

⁴⁰

Eye, Heart

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Publications for Noonan Syndrome 7

Articles related to Noonan Syndrome 7:

#	Title	Authors	PMID	Year
1	Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. ⁶ ⁵⁷	Sarkozy A...Tartaglia M	19206169	2009

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Genes for Noonan Syndrome 7

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

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1343.34	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	19206169
2	CTTNBP2	Cortactin Binding Protein 2	Protein Coding	7.99	DISEASES inferred ¹⁵
3	CD300LF	CD300 Molecule Like Family Member F	Protein Coding	7.06	DISEASES inferred ¹⁵
4	ASZ1	Ankyrin Repeat, SAM And Basic Leucine Zipper Domain Containing 1	Protein Coding	6.98	DISEASES inferred ¹⁵
5	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	6.6	DISEASES inferred ¹⁵
6	PPP1CA	Protein Phosphatase 1 Catalytic Subunit Alpha	Protein Coding	6.6	DISEASES inferred ¹⁵
7	DYNLT1	Dynein Light Chain Tctex-Type 1	Protein Coding	6.27	DISEASES inferred ¹⁵
8	EIF4G1	Eukaryotic Translation Initiation Factor 4 Gamma 1	Protein Coding	6.04	DISEASES inferred ¹⁵
9	GADD45G	Growth Arrest And DNA Damage Inducible Gamma	Protein Coding	5.97	DISEASES inferred ¹⁵
10	IFIH1	Interferon Induced With Helicase C Domain 1	Protein Coding	5.8	DISEASES inferred ¹⁵
11	POLR2B	RNA Polymerase II Subunit B	Protein Coding	5.77	DISEASES inferred ¹⁵
12	VAPA	VAMP Associated Protein A	Protein Coding	5.75	DISEASES inferred ¹⁵
13	DDX58	DExD/H-Box Helicase 58	Protein Coding	5.72	DISEASES inferred ¹⁵
14	ITPA	Inosine Triphosphatase	Protein Coding	5.66	DISEASES inferred ¹⁵
15	EIF4E	Eukaryotic Translation Initiation Factor 4E	Protein Coding	5.62	DISEASES inferred ¹⁵
16	EIF3B	Eukaryotic Translation Initiation Factor 3 Subunit B	Protein Coding	5.46	DISEASES inferred ¹⁵

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Variations for Noonan Syndrome 7

ClinVar genetic disease variations for Noonan Syndrome 7:

⁶ (show top 50) (show all 59)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	BRAF	NM_004333.6(BRAF):c.722C>G (p.Thr241Arg)	SNV	Pathogenic	29806	rs387906660	GRCh37: 7:140501350-140501350 GRCh38: 7:140801550-140801550
2	BRAF	NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys)	SNV	Pathogenic	29808	rs606231228	GRCh37: 7:140476813-140476813 GRCh38: 7:140777013-140777013
3	BRAF	NM_001374258.1(BRAF):c.1909C>G (p.Leu637Val)	SNV	Pathogenic	13969	rs121913369	GRCh37: 7:140453146-140453146 GRCh38: 7:140753346-140753346
4	BRAF	NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro)	SNV	Pathogenic	29807	rs387906661	GRCh37: 7:140501351-140501351 GRCh38: 7:140801551-140801551
5	BRAF	NM_001374258.1(BRAF):c.722C>T (p.Thr241Met)	SNV	Pathogenic	29805	rs387906660	GRCh37: 7:140501350-140501350 GRCh38: 7:140801550-140801550
6	BRAF	NM_001374258.1(BRAF):c.1712G>C (p.Trp571Ser)	SNV	Pathogenic	666569	rs397507478	GRCh37: 7:140476814-140476814 GRCh38: 7:140777014-140777014
7	BRAF	NM_001374258.1(BRAF):c.770A>G (p.Gln257Arg)	SNV	Pathogenic	13973	rs180177035	GRCh37: 7:140501302-140501302 GRCh38: 7:140801502-140801502
8	BRAF	NM_001374258.1(BRAF):c.770A>G (p.Gln257Arg)	SNV	Pathogenic	13973	rs180177035	GRCh37: 7:140501302-140501302 GRCh38: 7:140801502-140801502
9	BRAF	NM_001374258.1(BRAF):c.735A>C (p.Leu245Phe)	SNV	Likely pathogenic	40347	rs397507466	GRCh37: 7:140501337-140501337 GRCh38: 7:140801537-140801537
10	BRAF	NM_001374258.1(BRAF):c.2255C>A (p.Ala752Asp)	SNV	Likely pathogenic	162795	rs727502904	GRCh37: 7:140434563-140434563 GRCh38: 7:140734763-140734763
11	BRAF	NM_004333.6(BRAF):c.1387A>G (p.Ile463Val)	SNV	Likely pathogenic	587514	rs1562957000	GRCh37: 7:140481421-140481421 GRCh38: 7:140781621-140781621
12	BRAF	NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	SNV	Likely pathogenic	13981	rs180177042	GRCh37: 7:140449165-140449165 GRCh38: 7:140749365-140749365
13	BRAF	NM_001374258.1(BRAF):c.1863T>A (p.Asn621Lys)	SNV	Likely pathogenic	44811	rs397516895	GRCh37: 7:140453192-140453192 GRCh38: 7:140753392-140753392
14	BRAF	NM_001374258.1(BRAF):c.722C>T (p.Thr241Met)	SNV	Likely pathogenic	29805	rs387906660	GRCh37: 7:140501350-140501350 GRCh38: 7:140801550-140801550
15	BRAF	NM_004333.6(BRAF):c.1024A>G (p.Ile342Val)	SNV	Uncertain significance	359048	rs201481342	GRCh37: 7:140494224-140494224 GRCh38: 7:140794424-140794424
16	BRAF	NM_004333.6(BRAF):c.*3C>T	SNV	Uncertain significance	359043	rs746680490	GRCh37: 7:140434394-140434394 GRCh38: 7:140734594-140734594
17	BRAF	NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)	SNV	Uncertain significance	372564	rs557241012	GRCh37: 7:140534476-140534476 GRCh38: 7:140834676-140834676
18	BRAF	NM_004333.6(BRAF):c.981-14C>A	SNV	Uncertain significance	359049	rs200002171	GRCh37: 7:140494281-140494281 GRCh38: 7:140794481-140794481
19	BRAF	NM_001374258.1(BRAF):c.1814+14G>A	SNV	Uncertain significance	44809	rs184144181	GRCh37: 7:140476698-140476698 GRCh38: 7:140776898-140776898
20	BRAF	NM_001374258.1(BRAF):c.2401+27T>C	SNV	Uncertain significance	162794	rs727502903	GRCh37: 7:140434390-140434390 GRCh38: 7:140734590-140734590
21	BRAF	NM_004333.6(BRAF):c.2196C>G (p.Ser732=)	SNV	Uncertain significance	417227	rs142592480	GRCh37: 7:140434502-140434502 GRCh38: 7:140734702-140734702
22	BRAF	NM_001374258.1(BRAF):c.2063A>G (p.Glu688Gly)	SNV	Uncertain significance	908790		GRCh37: 7:140449136-140449136 GRCh38: 7:140749336-140749336
23	BRAF	NM_001374258.1(BRAF):c.563G>C (p.Arg188Thr)	SNV	Uncertain significance	908852		GRCh37: 7:140508737-140508737 GRCh38: 7:140808937-140808937
24	BRAF	NM_001374258.1(BRAF):c.469G>A (p.Val157Ile)	SNV	Uncertain significance	503529	rs1258111302	GRCh37: 7:140534444-140534444 GRCh38: 7:140834644-140834644
25	BRAF	NM_001374258.1(BRAF):c.2401+236T>C	SNV	Uncertain significance	909590		GRCh37: 7:140434181-140434181 GRCh38: 7:140734381-140734381
26	BRAF	NM_001374258.1(BRAF):c.1689A>G (p.Pro563=)	SNV	Uncertain significance	909644		GRCh37: 7:140476837-140476837 GRCh38: 7:140777037-140777037
27	BRAF	NM_001374258.1(BRAF):c.316G>A (p.Gly106Arg)	SNV	Uncertain significance	505121	rs749247588	GRCh37: 7:140534597-140534597 GRCh38: 7:140834797-140834797
28	BRAF	NM_004333.6(BRAF):c.72G>C (p.Glu24Asp)	SNV	Uncertain significance	133720	rs587778114	GRCh37: 7:140624432-140624432 GRCh38: 7:140924632-140924632
29	BRAF	NM_001374258.1(BRAF):c.64G>A (p.Asp22Asn)	SNV	Uncertain significance	40335	rs397507456	GRCh37: 7:140624440-140624440 GRCh38: 7:140924640-140924640
30	BRAF	NM_001374258.1(BRAF):c.2401+223A>G	SNV	Uncertain significance	910513		GRCh37: 7:140434194-140434194 GRCh38: 7:140734394-140734394
31	BRAF	NM_001374258.1(BRAF):c.2401+163A>G	SNV	Uncertain significance	910514		GRCh37: 7:140434254-140434254 GRCh38: 7:140734454-140734454
32	BRAF	NM_001374258.1(BRAF):c.2401+144G>C	SNV	Uncertain significance	910515		GRCh37: 7:140434273-140434273 GRCh38: 7:140734473-140734473
33	BRAF	NM_001374258.1(BRAF):c.1300T>C (p.Ser434Pro)	SNV	Uncertain significance	910575		GRCh37: 7:140482955-140482955 GRCh38: 7:140783155-140783155
34	BRAF	NM_001374258.1(BRAF):c.1066C>G (p.Gln356Glu)	SNV	Uncertain significance	910576		GRCh37: 7:140494182-140494182 GRCh38: 7:140794382-140794382
35	BRAF	NM_001374258.1(BRAF):c.-12C>T	SNV	Uncertain significance	910631		GRCh37: 7:140624515-140624515 GRCh38: 7:140924715-140924715
36	BRAF	NM_001374258.1(BRAF):c.-56C>T	SNV	Uncertain significance	910632		GRCh37: 7:140624559-140624559 GRCh38: 7:140924759-140924759
37	BRAF	NM_001374258.1(BRAF):c.1056T>A (p.Asp352Glu)	SNV	Uncertain significance	910577		GRCh37: 7:140494192-140494192 GRCh38: 7:140794392-140794392
38	BRAF	NM_004333.6(BRAF):c.1023A>G (p.Pro341=)	SNV	Uncertain significance	512959	rs56092510	GRCh37: 7:140494225-140494225 GRCh38: 7:140794425-140794425
39	BRAF	NM_001374258.1(BRAF):c.1357G>A (p.Val453Met)	SNV	Uncertain significance	44799	rs377093637	GRCh37: 7:140482898-140482898 GRCh38: 7:140783098-140783098
40	BRAF	NM_001374258.1(BRAF):c.1819T>G (p.Leu607Val)	SNV	Uncertain significance	945231		GRCh37: 7:140454029-140454029 GRCh38: 7:140754229-140754229
41	BRAF	NM_001374258.1(BRAF):c.708C>T (p.Asn236=)	SNV	Uncertain significance	44827	rs138333692	GRCh37: 7:140507763-140507763 GRCh38: 7:140807963-140807963
42	BRAF	NM_001374258.1(BRAF):c.1068A>G (p.Gln356=)	SNV	Uncertain significance	44788	rs143335467	GRCh37: 7:140494180-140494180 GRCh38: 7:140794380-140794380
43	BRAF	NM_004333.6(BRAF):c.1166G>A (p.Arg389His)	SNV	Uncertain significance	372627	rs577372072	GRCh37: 7:140487359-140487359 GRCh38: 7:140787559-140787559
44	BRAF	NM_001374258.1(BRAF):c.1357G>A (p.Val453Met)	SNV	Uncertain significance	44799	rs377093637	GRCh37: 7:140482898-140482898 GRCh38: 7:140783098-140783098
45	BRAF	NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys)	SNV	Uncertain significance	561797	rs1562939198	GRCh37: 7:140449139-140449139 GRCh38: 7:140749339-140749339
46	BRAF	NM_001374258.1(BRAF):c.1452G>A (p.Arg484=)	SNV	Uncertain significance	40362	rs56101602	GRCh37: 7:140481476-140481476 GRCh38: 7:140781676-140781676
47	BRAF	NM_004333.6(BRAF):c.36G>A (p.Ala12=)	SNV	Likely benign	40333	rs397507454	GRCh37: 7:140624468-140624468 GRCh38: 7:140924668-140924668
48	BRAF	NM_001374258.1(BRAF):c.2355A>G (p.Leu785=)	SNV	Likely benign	40399	rs56046546	GRCh37: 7:140434463-140434463 GRCh38: 7:140734663-140734663
49	BRAF	NM_001374258.1(BRAF):c.375T>G (p.Ser125=)	SNV	Likely benign	44825	rs201507202	GRCh37: 7:140534538-140534538 GRCh38: 7:140834738-140834738
50	BRAF	NM_001374258.1(BRAF):c.1503A>G (p.Gln501=)	SNV	Likely benign	40363	rs56216404	GRCh37: 7:140481425-140481425 GRCh38: 7:140781625-140781625

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

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	BRAF	p.Leu597Val	VAR_018627	rs121913369
2	BRAF	p.Thr241Met	VAR_058620	rs387906660
3	BRAF	p.Thr241Arg	VAR_058622	rs387906660
4	BRAF	p.Trp531Cys	VAR_058627	rs606231228

Sources

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:

#	Super pathways	Score	Top Affiliating Genes
1	Translation Factors ¹ Show member pathways Recycling of eIF2-GDP ⁶⁵	10.58	EIF4G1 EIF4E EIF3B
2	PIWI-interacting RNA (piRNA) biogenesis ⁶⁵	10.42	POLR2B ASZ1

Sources

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	cytoplasm	GO:0005737	9.44	SCN5A PPP1CA ITPA IFIH1 GADD45G EIF4G1
2	eukaryotic translation initiation factor 4F complex	GO:0016281	8.96	EIF4G1 EIF4E

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

#	Name	GO ID	Score	Top Affiliating Genes
1	translational initiation	GO:0006413	9.58	EIF4G1 EIF4E EIF3B
2	regulation of translational initiation	GO:0006446	9.48	EIF4G1 EIF3B
3	behavioral fear response	GO:0001662	9.46	EIF4G1 EIF4E
4	positive regulation of interferon-alpha production	GO:0032727	9.43	IFIH1 DDX58
5	cellular response to exogenous dsRNA	GO:0071360	9.37	IFIH1 DDX58
6	positive regulation of response to cytokine stimulus	GO:0060760	9.32	IFIH1 DDX58
7	detection of virus	GO:0009597	9.26	IFIH1 DDX58
8	viral process	GO:0016032	9.17	VAPA PPP1CA IFIH1 EIF4G1 EIF4E DYNLT1
9	cytoplasmic pattern recognition receptor signaling pathway in response to virus	GO:0039528	9.16	IFIH1 DDX58
10	regulation of type III interferon production	GO:0034344	8.96	IFIH1 DDX58

Molecular functions related to Noonan Syndrome 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	translation initiation factor binding	GO:0031369	8.96	EIF4G1 EIF3B
2	translation initiation factor activity	GO:0003743	8.8	EIF4G1 EIF4E EIF3B

Sources

Sources for Noonan Syndrome 7

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⁵⁴ Novoseek

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

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⁶¹ PubMed

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⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Noonan Syndrome 7 (NS7)

Aliases & Classifications for Noonan Syndrome 7

MalaCards integrated aliases for Noonan Syndrome 7:

Characteristics:

OMIM®:

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Classifications:

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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:

Graphical network of the top 20 diseases related to Noonan Syndrome 7:

Symptoms & Phenotypes for Noonan Syndrome 7

Human phenotypes related to Noonan Syndrome 7:

Symptoms via clinical synopsis from OMIM®:

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Drugs & Therapeutics for Noonan Syndrome 7

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Expression for Noonan Syndrome 7

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

GO Terms for Noonan Syndrome 7

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

Molecular functions related to Noonan Syndrome 7 according to GeneCards Suite gene sharing:

Sources for Noonan Syndrome 7