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

UniProtKB/Swiss-Prot: ⁷³ 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 and noonan-related syndrome and pseudo-turner syndrome. An important gene associated with Noonan Syndrome 7 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are MAP Kinase Signaling and Signaling by MRAS-complex mutants. Affiliated tissues include heart, skin and skeletal muscle, and related phenotypes are macrocephaly and intellectual disability

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 08-Dec-2022)

Disease Ontology: ¹¹ A Noonan syndrome that has material basis in heterozygous mutation in the BRAF gene.

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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
Noonan Syndrome 14

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

(show all 18)

#	Related Disease	Score	Top Affiliating Genes
1	noonan syndrome and noonan-related syndrome	10.1	SHOC2 BRAF
2	pseudo-turner syndrome	10.0	SHOC2 BRAF
3	noonan syndrome 12	10.0	SH2D3C ASZ1
4	gastroenteritis	10.0
5	viral infectious disease	10.0
6	noonan syndrome with multiple lentigines	10.0	SHOC2 BRAF
7	costello syndrome	9.9	SHOC2 BRAF
8	ross river fever	9.9	SH2D3C SH2D3A
9	eastern equine encephalitis	9.9	SH2D3C SH2D3A
10	western equine encephalitis	9.9	SH2D3C SH2D3A
11	juvenile myelomonocytic leukemia	9.8	SPECC1 SHOC2 BRAF
12	venezuelan equine encephalitis	9.8	SH2D3C SH2D3A
13	ebola hemorrhagic fever	9.8	SH2D3C SH2D3A
14	cardiofaciocutaneous syndrome 1	9.8	SHOC2 BRAF
15	middle east respiratory syndrome	9.8	SH2D3C SH2D3A
16	coronavirus infectious disease	9.7	SH2D3C SH2D3A
17	blue toe syndrome	9.7	SPECC1 SH2D3C SH2D3A
18	acute diarrhea	9.5	SPECC1 SH2D3C SH2D3A ASZ1

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:

³⁰ (show all 43)

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Neck:
short neck
webbed neck

Head And Neck Eyes:
hypertelorism

Growth Height:
short stature

Head And Neck Ears:
low-set ears
thick helix

Abdomen Gastrointestinal:
feeding difficulties
poor suck
poor swallowing

Head And Neck Nose:
flat nasal bridge

Chest External Features:
broad chest

Skeletal Hands:
small joint hyperextensibility

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

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

Head And Neck Face:
prominent forehead
bitemporal narrowing

Head And Neck Head:
dolichocephaly

Cardiovascular Heart:
congenital heart defects (in some patients)

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 08-Dec-2022)

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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 ²⁸	BRAF

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Anatomical Context for Noonan Syndrome 7

Organs/tissues related to Noonan Syndrome 7:

MalaCards : Heart, Skin, Skeletal Muscle, Brain

ODiseA: Brain, Skeletal Muscle, Heart-Atrium, Heart-Ventricle, Heart, Skin

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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. ⁵⁷ ⁵	Sarkozy A...Tartaglia M	19206169	2009
2	Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. ⁵	Niihori T...Matsubara Y	16474404	2006

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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	PubMed IDs
1	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1332.61	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	16474404 19206169
2	ASZ1	Ankyrin Repeat, SAM And Basic Leucine Zipper Domain Containing 1	Protein Coding	5.46	DISEASES inferred ¹⁴
3	S100G	S100 Calcium Binding Protein G	Protein Coding	5.13	DISEASES inferred ¹⁴
4	SHOC2	SHOC2 Leucine Rich Repeat Scaffold Protein	Protein Coding	4.76	DISEASES inferred ¹⁴
5	SPECC1	Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1	Protein Coding	4.75	DISEASES inferred ¹⁴
6	SH2D3C	SH2 Domain Containing 3C	Protein Coding	4.63	DISEASES inferred ¹⁴
7	SH2D3A	SH2 Domain Containing 3A	Protein Coding	4.41	DISEASES inferred ¹⁴
8	TRIM7	Tripartite Motif Containing 7	Protein Coding	4.4	DISEASES inferred ¹⁴
9	CSHL1	Chorionic Somatomammotropin Hormone Like 1	Protein Coding	4.4	DISEASES inferred ¹⁴

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Variations for Noonan Syndrome 7

ClinVar genetic disease variations for Noonan Syndrome 7:

⁵ (show top 50) (show all 63)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	BRAF	NM_004333.6(BRAF):c.1592G>C (p.Trp531Ser)	SNV	Pathogenic	666569	rs397507478	GRCh37: 7:140476814-140476814 GRCh38: 7:140777014-140777014
2	BRAF	NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro)	SNV	Pathogenic	222077	rs869025340	GRCh37: 7:140476832-140476832 GRCh38: 7:140777032-140777032
3	BRAF	NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	SNV	Pathogenic Pathogenic/Likely Pathogenic	29805	rs387906660	GRCh37: 7:140501350-140501350 GRCh38: 7:140801550-140801550
4	BRAF	NM_004333.6(BRAF):c.722C>G (p.Thr241Arg)	SNV	Pathogenic	29806	rs387906660	GRCh37: 7:140501350-140501350 GRCh38: 7:140801550-140801550
5	BRAF	NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys)	SNV	Pathogenic	29808	rs606231228	GRCh37: 7:140476813-140476813 GRCh38: 7:140777013-140777013
6	BRAF	NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	SNV	Pathogenic Pathogenic Not Provided	29807	rs387906661	GRCh37: 7:140501351-140501351 GRCh38: 7:140801551-140801551
7	BRAF	NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)	SNV	Pathogenic	13969	rs121913369	GRCh37: 7:140453146-140453146 GRCh38: 7:140753346-140753346
8	BRAF	NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	SNV	Pathogenic Pathogenic	13973	rs180177035	GRCh37: 7:140501302-140501302 GRCh38: 7:140801502-140801502
9	BRAF	NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)	SNV	Pathogenic	13974	rs121913355	GRCh37: 7:140481402-140481402 GRCh38: 7:140781602-140781602
10	BRAF	NM_004333.6(BRAF):c.739T>C (p.Phe247Leu)	SNV	Pathogenic	180784	rs397516903	GRCh37: 7:140501333-140501333 GRCh38: 7:140801533-140801533
11	BRAF	NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)	SNV	Likely Pathogenic	162795	rs727502904	GRCh37: 7:140434563-140434563 GRCh38: 7:140734763-140734763
12	BRAF	NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)	SNV	Likely Pathogenic	40347	rs397507466	GRCh37: 7:140501337-140501337 GRCh38: 7:140801537-140801537
13	BRAF	NM_004333.6(BRAF):c.1387A>G (p.Ile463Val)	SNV	Likely Pathogenic	587514	rs1562957000	GRCh37: 7:140481421-140481421 GRCh38: 7:140781621-140781621
14	BRAF	NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	SNV	Likely Pathogenic	13981	rs180177042	GRCh37: 7:140449165-140449165 GRCh38: 7:140749365-140749365
15	BRAF	NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)	SNV	Likely Pathogenic	44811	rs397516895	GRCh37: 7:140453192-140453192 GRCh38: 7:140753392-140753392
16	BRAF	NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys)	SNV	Uncertain Significance	561797	rs1562939198	GRCh37: 7:140449139-140449139 GRCh38: 7:140749339-140749339
17	BRAF	NM_004333.6(BRAF):c.1237G>A (p.Val413Met)	SNV	Uncertain Significance Uncertain Significance	44799	rs377093637	GRCh37: 7:140482898-140482898 GRCh38: 7:140783098-140783098
18	BRAF	NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)	SNV	Uncertain Significance	372564	rs557241012	GRCh37: 7:140534476-140534476 GRCh38: 7:140834676-140834676
19	BRAF	NM_004333.6(BRAF):c.*3C>T	SNV	Uncertain Significance	359043	rs746680490	GRCh37: 7:140434394-140434394 GRCh38: 7:140734594-140734594
20	BRAF	NM_004333.6(BRAF):c.1694+14G>A	SNV	Uncertain Significance	44809	rs184144181	GRCh37: 7:140476698-140476698 GRCh38: 7:140776898-140776898
21	BRAF	NM_004333.6(BRAF):c.*7T>C	SNV	Uncertain Significance	162794	rs727502903	GRCh37: 7:140434390-140434390 GRCh38: 7:140734590-140734590
22	BRAF	NM_004333.6(BRAF):c.1024A>G (p.Ile342Val)	SNV	Uncertain Significance	359048	rs201481342	GRCh37: 7:140494224-140494224 GRCh38: 7:140794424-140794424
23	BRAF	NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp)	SNV	Uncertain Significance	543985	rs1554400237	GRCh37: 7:140482945-140482945 GRCh38: 7:140783145-140783145
24	BRAF	NM_004333.6(BRAF):c.1699T>G (p.Leu567Val)	SNV	Uncertain Significance	945231		GRCh37: 7:140454029-140454029 GRCh38: 7:140754229-140754229
25	BRAF	NM_004333.6(BRAF):c.981-14C>A	SNV	Uncertain Significance	359049	rs200002171	GRCh37: 7:140494281-140494281 GRCh38: 7:140794481-140794481
26	BRAF	NM_004333.6(BRAF):c.708C>T (p.Asn236=)	SNV	Uncertain Significance	44827	rs138333692	GRCh37: 7:140507763-140507763 GRCh38: 7:140807963-140807963
27	BRAF	NM_004333.6(BRAF):c.1068A>G (p.Gln356=)	SNV	Uncertain Significance	44788	rs143335467	GRCh37: 7:140494180-140494180 GRCh38: 7:140794380-140794380
28	BRAF	NM_004333.6(BRAF):c.1166G>A (p.Arg389His)	SNV	Uncertain Significance	372627	rs577372072	GRCh37: 7:140487359-140487359 GRCh38: 7:140787559-140787559
29	BRAF	NM_004333.6(BRAF):c.1714A>G (p.Ile572Val)	SNV	Uncertain Significance	1699096		GRCh37: 7:140454014-140454014 GRCh38: 7:140754214-140754214
30	BRAF	NM_004333.6(BRAF):c.254A>G (p.Tyr85Cys)	SNV	Uncertain Significance	429447	rs1131691387	GRCh37: 7:140534659-140534659 GRCh38: 7:140834859-140834859
31	BRAF	NM_004333.6(BRAF):c.66C>G (p.Asp22Glu)	SNV	Uncertain Significance	1710942		GRCh37: 7:140624438-140624438 GRCh38: 7:140924638-140924638
32	BRAF	NM_004333.6(BRAF):c.1858A>G (p.Met620Val)	SNV	Uncertain Significance	1691521		GRCh37: 7:140453077-140453077 GRCh38: 7:140753277-140753277
33	BRAF	NM_004333.6(BRAF):c.1332G>A (p.Arg444=)	SNV	Uncertain Significance	40362	rs56101602	GRCh37: 7:140481476-140481476 GRCh38: 7:140781676-140781676
34	BRAF	NM_004333.6(BRAF):c.2196C>G (p.Ser732=)	SNV	Uncertain Significance	417227	rs142592480	GRCh37: 7:140434502-140434502 GRCh38: 7:140734702-140734702
35	BRAF	NM_004333.6(BRAF):c.64G>A (p.Asp22Asn)	SNV	Uncertain Significance	40335	rs397507456	GRCh37: 7:140624440-140624440 GRCh38: 7:140924640-140924640
36	BRAF	NM_004333.6(BRAF):c.1023A>G (p.Pro341=)	SNV	Uncertain Significance	512959	rs56092510	GRCh37: 7:140494225-140494225 GRCh38: 7:140794425-140794425
37	BRAF	NM_004333.6(BRAF):c.1056T>A (p.Asp352Glu)	SNV	Uncertain Significance	910577	rs1398817791	GRCh37: 7:140494192-140494192 GRCh38: 7:140794392-140794392
38	BRAF	NM_004333.6(BRAF):c.-56C>T	SNV	Uncertain Significance	910632	rs867823794	GRCh37: 7:140624559-140624559 GRCh38: 7:140924759-140924759
39	BRAF	NM_004333.6(BRAF):c.-12C>T	SNV	Uncertain Significance	910631	rs1390547132	GRCh37: 7:140624515-140624515 GRCh38: 7:140924715-140924715
40	BRAF	NM_004333.6(BRAF):c.1066C>G (p.Gln356Glu)	SNV	Uncertain Significance	910576	rs151308995	GRCh37: 7:140494182-140494182 GRCh38: 7:140794382-140794382
41	BRAF	NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro)	SNV	Uncertain Significance	910575	rs923739321	GRCh37: 7:140482955-140482955 GRCh38: 7:140783155-140783155
42	BRAF	NM_004333.6(BRAF):c.*124G>C	SNV	Uncertain Significance	910515	rs1317771158	GRCh37: 7:140434273-140434273 GRCh38: 7:140734473-140734473
43	BRAF	NM_004333.6(BRAF):c.*143A>G	SNV	Uncertain Significance	910514	rs1585929994	GRCh37: 7:140434254-140434254 GRCh38: 7:140734454-140734454
44	BRAF	NM_004333.6(BRAF):c.*203A>G	SNV	Uncertain Significance	910513	rs1796208696	GRCh37: 7:140434194-140434194 GRCh38: 7:140734394-140734394
45	BRAF	NM_004333.6(BRAF):c.72G>C (p.Glu24Asp)	SNV	Uncertain Significance	133720	rs587778114	GRCh37: 7:140624432-140624432 GRCh38: 7:140924632-140924632
46	BRAF	NM_004333.6(BRAF):c.316G>A (p.Gly106Arg)	SNV	Uncertain Significance	505121	rs749247588	GRCh37: 7:140534597-140534597 GRCh38: 7:140834797-140834797
47	BRAF	NM_004333.6(BRAF):c.1569A>G (p.Pro523=)	SNV	Uncertain Significance	909644	rs759843625	GRCh37: 7:140476837-140476837 GRCh38: 7:140777037-140777037
48	BRAF	NM_004333.6(BRAF):c.*216T>C	SNV	Uncertain Significance	909590	rs184804021	GRCh37: 7:140434181-140434181 GRCh38: 7:140734381-140734381
49	BRAF	NM_004333.6(BRAF):c.469G>A (p.Val157Ile)	SNV	Uncertain Significance	503529	rs1258111302	GRCh37: 7:140534444-140534444 GRCh38: 7:140834644-140834644
50	BRAF	NM_004333.6(BRAF):c.563G>C (p.Arg188Thr)	SNV	Uncertain Significance	908852	rs1803936771	GRCh37: 7:140508737-140508737 GRCh38: 7:140808937-140808937

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

⁷³

#	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

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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:

#	Super pathways	Score	Top Affiliating Genes
1	MAP Kinase Signaling ³	11.01	SHOC2 BRAF
2	Signaling by MRAS-complex mutants ⁶⁶ Show member pathways Gain-of-function MRAS complexes activate RAF signaling ⁶⁶ SHOC2 M1731 mutant abolishes MRAS complex function ⁶⁶	10	SHOC2 BRAF

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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	JNK cascade	GO:0007254	9.26	SH2D3C SH2D3A
2	positive regulation of peptidyl-serine phosphorylation	GO:0033138	9.1	SH2D3C SH2D3A BRAF

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

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphotyrosine residue binding	GO:0001784	8.92	SH2D3C SH2D3A

Sources

Sources for Noonan Syndrome 7

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

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NS7 MCID: NNN020 MIFTS: 38	Noonan Syndrome 7 (NS7) Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Noonan Syndrome 7 (NS7)

Aliases & Classifications for Noonan Syndrome 7

MalaCards integrated aliases for Noonan Syndrome 7:

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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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Anatomical Context for Noonan Syndrome 7

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Genes for Noonan Syndrome 7

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Variations for Noonan Syndrome 7

ClinVar genetic disease variations for Noonan Syndrome 7:

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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

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

Sources for Noonan Syndrome 7