NS1
MCID: NNN008
MIFTS: 56

Noonan Syndrome 1 (NS1) malady

Eye, Cardiovascular, Nephrological, Skin, Fetal, Cancer categories

Summaries for Noonan Syndrome 1

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. characteristics of the syndrome include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. noonan syndrome may be caused by mutations in any one of several genes including the ptpn11, kras, raf1, sos1, nras and braf genes. it is sometimes referred to as a specific subtype based on the specific, mutated gene that causes the syndrome in an affected individual. it is typically inherited in an autosomal dominant manner, although in many individuals with noonan syndrome, the mutation occurs for the first time and neither of the parents has the condition. last updated: 9/28/2012

MalaCards: Noonan Syndrome 1, also known as noonan syndrome, is related to noonan syndrome and neurofibromatosis-noonan syndrome, and has symptoms including high forehead, triangular face and hypertelorism. An important gene associated with Noonan Syndrome 1 is PTPN11 (protein tyrosine phosphatase, non-receptor type 11), and among its related pathways are FGFR2c ligand binding and activation and IL-3 Signaling Pathway. The compounds pd-184352 and gdc 0879 have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotypes are limbs/digits/tail and skeleton.

Description from OMIM:47 163950, 605275, 609942, 610733, 611553 613224, 613706, 615355 more

Aliases & Classifications for Noonan Syndrome 1

Sources:
49Orphanet, 61UMLS, 43NIH Rare Diseases, 22GTR, 47OMIM, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Eye, Cardiovascular, Nephrological, Skin


Characteristics (Orphanet epidemiological data):

49
noonan syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

noonan syndrome 1 43 22 47
noonan syndrome 49 61
ns1 43


External Ids:

ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet58 205684007, 205824006
UMLS via Orphanet62 C0028326
MESH via Orphanet36 D009634

Related Diseases for Noonan Syndrome 1

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Noonan Syndrome 1 family:

noonan syndrome noonan syndrome 2
noonan syndrome 3 noonan syndrome 4
noonan syndrome 5 noonan syndrome 6
noonan-like syndrome with loose anagen hair noonan-like syndrome disorder with or without juvenile myelomonocytic leukemia
noonan syndrome 8 noonan syndrome 7

Diseases related to Noonan Syndrome 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 189)
idRelated DiseaseScoreTop Affiliating Genes
1noonan syndrome31.9PTPN11, NF1, KRAS, RAF1, NRAS, BRAF
2neurofibromatosis-noonan syndrome31.1NF1, PTPN11
3neurofibromatosis31.0KRAS, NF1, PTPN11
4hypertrophic cardiomyopathy30.9PTPN11
5juvenile myelomonocytic leukemia30.7NF1, PTPN11
6noonan syndrome 530.6RAF1
7acute leukemia30.6KRAS, PTPN11, NF1
8leopard syndrome30.5SOS1, RAF1, PTPN11
9tick-borne encephalitis30.4RAF1
10short stature30.4BRAF, PTPN11, NF1, SOS1
11murray valley encephalitis30.4RAF1
12cardiofaciocutaneous syndrome30.3BRAF, KRAS
13costello syndrome30.3KRAS, SOS1, BRAF, PTPN11
14cherubism30.3PTPN11
15pilocytic astrocytoma29.9NF1
16astrocytoma29.9NF1
17chronic myelomonocytic leukemia29.9PTPN11, NF1
18mental retardation29.9NF1, BRAF, PTPN11
19burkitt's lymphoma29.9NF1, RAF1, KRAS, PTPN11
20hepatitis c29.8PTPN11, KRAS, RAF1, SOS1
21n syndrome11.3
22avian influenza10.5
23char syndrome10.5
24noonan syndrome 310.5
25adult syndrome10.5
26japanese encephalitis10.5
27short syndrome10.4
28noonan syndrome 210.4
29noonan syndrome 410.4
30noonan syndrome 610.4
31west nile virus10.4
32saldino-noonan syndrome10.4
33noonan-like syndrome disorder with or without juvenile myelomonocytic leukemia10.4
34systemic lupus erythematosus10.3
35granular cell tumor10.2
36young syndrome10.2
37raf1-related noonan syndrome10.2
38vaccinia10.2
39coloboma10.2
40retinitis pigmentosa10.2
41turner syndrome10.2
42kras-related noonan syndrome10.2
43sos1-related noonan syndrome10.2
44nras-related noonan syndrome10.2
45braf-related noonan syndrome10.2
46noonan syndrome 810.2
47myeloproliferative disorder10.2
48noonan syndrome 710.2
49west nile encephalitis10.2
50patent foramen ovale10.1

Graphical network of the top 20 diseases related to Noonan Syndrome 1:



Diseases related to noonan syndrome 1

Clinical Features for Noonan Syndrome 1

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

163950,605275,609942,610733,611553,613224,613706,615355

Clinical synopsis from OMIM:

163950

Symptoms:

49 (show all 57)
  • high forehead
  • triangular face
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • proptosis/exophthalmos
  • mid-facial hypoplasia/short/small midface
  • micrognathia/retrognathia/micrognathism/retrognathism
  • ptosis
  • anomalies of mouth, lip and philtrum
  • thick lips
  • high vaulted/narrow palate
  • low set ears/posteriorly rotated ears
  • helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
  • webbed neck/pterygium colli
  • excess nuchal skin without pterygium colli
  • cystic hygroma
  • wide rib cage/thorax
  • abnormally placed nipples
  • pectus carinatum
  • pectus excavatum
  • absent/hypotonic/flaccid abdominal wall muscles
  • pulmonary valve atresia/stenosis/narrowing
  • congenital cardiac anomaly/malformation/cardiopathy
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • late puberty/hypogonadism/hypogenitalism
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • muscle weakness/flaccidity
  • hyperextensible joints/articular hyperlaxity
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • strabismus/squint
  • scoliosis
  • abnormal dermatoglyphics
  • coarse/thick hair
  • low hair line (back)
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • hepatomegaly/liver enlargement (excluding storage disease)
  • structural and functional anomalies of the spleen
  • cardiac rhythm disorder/arrhythmia
  • anomalies of the lymphatic system
  • structural anomalies of the genital system
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hypotonia
  • delayed bone age
  • platelets function anomaly
  • clotting/hemostasis disorders
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • nystagmus
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • sensorineural deafness/hearing loss
  • radioulnar synostosis
  • short hand/brachydactyly
  • clinodactyly of fifth finger
  • pigmented naevi/naevus pigmentosus/lentigo
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • lymphedema

Drugs & Therapeutics for Noonan Syndrome 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Noonan Syndrome 1

Drug clinical trials:

Search ClinicalTrials for Noonan Syndrome 1

Search NIH Clinical Center for Noonan Syndrome 1

Search CenterWatch for Noonan Syndrome 1

Genetic Tests for Noonan Syndrome 1

Sources:
22GTR
See all sources

Genetic tests related to Noonan Syndrome 1:

id Genetic test Affiliating Genes
1 Noonan Syndrome 122

Anatomical Context for Noonan Syndrome 1

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Noonan Syndrome 1:

33
Heart

Animal Models for Noonan Syndrome 1 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Noonan Syndrome 1:

37 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.3PTPN11
2MP:00053909.6KAT6B, NF1
3MP:00036319.4PTPN11, RAF1, NF1
4MP:00053919.0RAF1, KAT6B, SOS1
5MP:00011868.8BRAF, NF1, KRAS, PTPN11
6MP:00107718.7SOS1, NRAS, RAF1, KRAS
7MP:00053888.7NF1, RAF1, KRAS, PTPN11
8MP:00020068.2BRAF, NRAS, NF1, RAF1, KRAS, PTPN11
9MP:00053708.2BRAF, NRAS, NF1, RAF1, KRAS, PTPN11
10MP:00028738.0BRAF, NRAS, NF1, RAF1, KRAS, PTPN11
11MP:00053817.9PTPN11, KRAS, NRAS, SOS1, BRAF
12MP:00053827.6BRAF, SOS1, KAT6B, NF1, RAF1, PTPN11
13MP:00053857.4BRAF, SOS1, NRAS, NF1, RAF1, KRAS
14MP:00053977.4BRAF, SOS1, NRAS, NF1, RAF1, KRAS
15MP:00053697.3BRAF, SOS1, KAT6B, NF1, RAF1, KRAS
16MP:00053877.3BRAF, SOS1, NRAS, NF1, RAF1, KRAS
17MP:00053767.0BRAF, SOS1, NRAS, NF1, RAF1, KRAS
18MP:00053786.8BRAF, SOS1, KAT6B, NRAS, NF1, RAF1
19MP:00107686.7BRAF, SOS1, KAT6B, NRAS, NF1, RAF1
20MP:00053846.4BRAF, SOS1, KAT6B, NRAS, NF1, RIT1

Publications for Noonan Syndrome 1

Sources:
51PubMed
See all sources

Articles related to Noonan Syndrome 1:

idTitleAuthorsYear
1
Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome. (18348260)
2008

Genetic Variations for Noonan Syndrome 1

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Noonan Syndrome 1:

63 (show all 32)
id Symbol AA change Variation SNP ID
1PTPN11p.Thr42AlaVAR_015601
2PTPN11p.Gly60AlaVAR_015602
3PTPN11p.Asp61GlyVAR_015603
4PTPN11p.Asp61AsnVAR_015604
5PTPN11p.Tyr62AspVAR_015605
6PTPN11p.Tyr63CysVAR_015606
7PTPN11p.Ala72GlyVAR_015607
8PTPN11p.Ala72SerVAR_015608
9PTPN11p.Thr73IleVAR_015609rs28933387
10PTPN11p.Glu76AspVAR_015610
11PTPN11p.Gln79ArgVAR_015611
12PTPN11p.Asp106AlaVAR_015612
13PTPN11p.Glu139AspVAR_015613
14PTPN11p.Tyr279CysVAR_015614
15PTPN11p.Ile282ValVAR_015615
16PTPN11p.Phe285SerVAR_015616
17PTPN11p.Phe285LeuVAR_015617
18PTPN11p.Asn308SerVAR_015618
19PTPN11p.Asn308AspVAR_015619
20PTPN11p.Ile309ValVAR_015620
21PTPN11p.Arg505LysVAR_015622
22PTPN11p.Ser506ThrVAR_015623
23PTPN11p.Met508ValVAR_015624
24PTPN11p.Thr2IleVAR_027183
25PTPN11p.Asn58LysVAR_027184
26PTPN11p.Glu69GlnVAR_027185
27PTPN11p.Gln79ProVAR_027186
28PTPN11p.Gln256ArgVAR_027187
29PTPN11p.Thr415MetVAR_027189
30PTPN11p.Gln510ArgVAR_027195
31PTPN11p.Leu564PheVAR_027197
32PTPN11p.Thr59AlaVAR_066060

Expression for genes affiliated with Noonan Syndrome 1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Noonan Syndrome 1

Search GEO for disease gene expression data for Noonan Syndrome 1.

Pathways for genes affiliated with Noonan Syndrome 1

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 60Tocris Bioscience, 12EMD Millipore, 52QIAGEN, 53R&D Systems, 4Cell Signaling Technology, 50PharmGKB
See all sources

Pathways related to Noonan Syndrome 1 according to GeneCards/GeneDecks:

(show top 50)    (show all 126)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.4RAF1, KRAS, PTPN11
29.3SOS1, PTPN11
38.9NF1, SOS1, PTPN11
4
Hide members
8.7NRAS, RAF1, KRAS, BRAF
5
Hide members
8.7BRAF, RAF1, KRAS, NRAS
68.7NRAS, BRAF, RAF1, KRAS
78.5KRAS, PTPN11, NRAS, SOS1
88.5SOS1, PTPN11, KRAS, NRAS
9
Development FGF-family signaling
Hide members
8.4PTPN11, RAF1, NRAS, SOS1
10
Hide members
8.4KRAS, SOS1, NRAS, RAF1
118.4KRAS, RAF1, NRAS, SOS1
12
Hide members
8.4SOS1, KRAS, NRAS, RAF1
13
Hide members
8.4SOS1, NRAS, RAF1, KRAS
148.4BRAF, KRAS, RAF1, SOS1
158.4KRAS, SOS1, BRAF, RAF1
16
Hide members
8.3RIT1, KRAS, RAF1, NRAS, BRAF
17
Hide members
8.3BRAF, SOS1, RAF1, NF1
18
Hide members
8.2RAF1, BRAF, NRAS, SOS1
198.2NRAS, SOS1, BRAF, RAF1
20
Hide members
8.1KRAS, NRAS, RAF1, SOS1, PTPN11
218.1KRAS, RAF1, NRAS, SOS1, PTPN11
22
Hide members
8.1KRAS, RAF1, NRAS, SOS1, PTPN11
23
Hide members
8.1SOS1, NRAS, KRAS, RAF1, PTPN11
24
Hide members
8.1KRAS, PTPN11, NRAS, SOS1, RAF1
25
Development Prolactin receptor signaling
Hide members
8.1RAF1, KRAS, SOS1, PTPN11, NRAS
26
Hide members
8.1SOS1, NRAS, RAF1, KRAS, PTPN11
27
Hide members
8.1NRAS, PTPN11, KRAS, RAF1, SOS1
28
Hide members
8.1BRAF, SOS1, PTPN11, RAF1, KRAS
298.1PTPN11, KRAS, RAF1, SOS1, BRAF
30
Hide members
7.9NRAS, RAF1, KRAS, BRAF, SOS1
31
Hide members
7.9KRAS, RAF1, NRAS, SOS1, BRAF
327.9KRAS, BRAF, SOS1, NRAS, RAF1
337.9KRAS, NRAS, SOS1, BRAF, RAF1
34
Hide members
7.9BRAF, SOS1, RAF1, NRAS, KRAS
35
Hide members
7.9BRAF, SOS1, NRAS, RAF1, KRAS
36
Hide members
7.9RAF1, BRAF, SOS1, NRAS, KRAS
37
Hide members
7.9RAF1, KRAS, NRAS, BRAF, SOS1
387.9RAF1, KRAS, NRAS, SOS1, BRAF
397.8NF1, BRAF, SOS1, NRAS, RAF1
40
Hide members
7.6RAF1, PTPN11, KRAS, BRAF, NF1, SOS1
417.6SOS1, RAF1, KRAS, PTPN11, BRAF, NRAS
42
Hide members
7.6NRAS, RAF1, KRAS, PTPN11, SOS1, BRAF
43
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
7.6BRAF, PTPN11, KRAS, NRAS, RAF1, SOS1
44
Translation Insulin regulation of translation
Hide members
7.6KRAS, NRAS, PTPN11, BRAF, SOS1, RAF1
45
Hide members
7.6SOS1, NRAS, RAF1, KRAS, PTPN11, BRAF
46
Hide members
7.6BRAF, SOS1, NRAS, RAF1, KRAS, PTPN11
47
Hide members
7.5SOS1, RIT1, KRAS, BRAF, RAF1, NRAS
48
Hide members
7.4SOS1, KRAS, RAF1, NF1, NRAS, BRAF
49
Hide members
7.4KRAS, NF1, SOS1, BRAF, NRAS, RAF1
50
Hide members
7.2SOS1, NRAS, RIT1, BRAF, PTPN11, KRAS

Compounds for genes affiliated with Noonan Syndrome 1

Sources:
45Novoseek, 60Tocris Bioscience, 50PharmGKB, 11DrugBank, 29IUPHAR
See all sources

Compounds related to Noonan Syndrome 1 according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1pd-1843524510.0RAF1, KRAS
2gdc 08796010.0BRAF, RAF1
3l-779,4506010.0BRAF, RAF1
4panitumumab45 50 1112.0BRAF, KRAS
5gw 5074609.9BRAF, RAF1
6sb 590885609.9BRAF, RAF1
7gw-5074459.9RAF1, BRAF
8zm 33637245 6010.9RAF1, BRAF
9Dabrafenib119.9RAF1, BRAF
10o6-methylguanine459.8KRAS, BRAF
11Regorafenib119.8RAF1, BRAF
12sodium orthovanadate45 6010.8PTPN11, RAF1
13cetuximab45 50 1111.8KRAS, BRAF
14crcs459.7KRAS, BRAF
1517-(allylamino)-17-demethoxygeldanamycin459.5BRAF, RAF1
16valine459.5BRAF, RAF1, KRAS
17sb 20358045 6010.3BRAF, RAF1, PTPN11
18imatinib45 50 1111.3PTPN11, KRAS, RAF1, BRAF
19ly294002459.2PTPN11, KRAS, RAF1, BRAF
20wortmannin459.2BRAF, RAF1, KRAS, PTPN11
21phosphoinositide459.2PTPN11, KRAS, RAF1, BRAF
22cisplatin45 50 60 1112.2PTPN11, KRAS, RAF1, BRAF
23agar459.1BRAF, NRAS, RAF1, PTPN11
24forskolin45 50 1111.1BRAF, NF1, RAF1, PTPN11
25vegf459.1BRAF, RAF1, KRAS, PTPN11
26paclitaxel45 50 1110.9KRAS, RAF1, BRAF
27rapamycin458.9BRAF, NF1, RAF1, KRAS, PTPN11
28alanine458.8PTPN11, RAF1, NF1, BRAF
29gtp45 299.4BRAF, SOS1, NF1, RAF1, KRAS
30oligonucleotide458.3PTPN11, KRAS, RAF1, NF1, NRAS, BRAF
31lipid458.3PTPN11, KRAS, NF1, SOS1, BRAF
32phosphatidylinositol458.0BRAF, SOS1, NF1, RAF1, KRAS, PTPN11
33serine458.0BRAF, SOS1, NF1, RAF1, KRAS, PTPN11
34tyrosine457.5BRAF, SOS1, NRAS, NF1, RAF1, KRAS

GO Terms for genes affiliated with Noonan Syndrome 1

Sources:
16Gene Ontology
See all sources

Biological processes related to Noonan Syndrome 1 according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of Rac protein signal transductionGO:0350229.6NRAS, KRAS
2striated muscle cell differentiationGO:0511469.5KRAS, NRAS
3regulation of synaptic transmission, GABAergicGO:0322289.4NF1, NRAS, KRAS
4regulation of long-term neuronal synaptic plasticityGO:0481699.4NF1, KRAS, NRAS
5heart developmentGO:0075079.3NF1, RAF1, PTPN11
6visual learningGO:0085429.3NRAS, NF1, KRAS
7MAPK cascadeGO:0001659.0KRAS, NRAS, NF1, RAF1
8activation of MAPKK activityGO:0001869.0BRAF, NRAS, RAF1, KRAS
9actin cytoskeleton organizationGO:0300368.9NF1, NRAS, KRAS
10leukocyte migrationGO:0509008.6SOS1, PTPN11, KRAS, NRAS
11insulin receptor signaling pathwayGO:0082868.4PTPN11, SOS1, KRAS, RAF1, NRAS
12Fc-epsilon receptor signaling pathwayGO:0380958.4KRAS, PTPN11, RAF1, NRAS, SOS1
13epidermal growth factor receptor signaling pathwayGO:0071738.4NRAS, SOS1, RAF1, KRAS, PTPN11
14axon guidanceGO:0074118.3PTPN11, RAF1, KRAS, NRAS, SOS1
15Ras protein signal transductionGO:0072658.3NF1, NRAS, SOS1, RAF1, KRAS
16blood coagulationGO:0075968.2PTPN11, NRAS, SOS1, KRAS, RAF1
17innate immune responseGO:0450878.2PTPN11, NRAS, KRAS, RAF1, SOS1
18fibroblast growth factor receptor signaling pathwayGO:0085437.9KRAS, PTPN11, RAF1, NRAS, SOS1, BRAF
19small GTPase mediated signal transductionGO:0072647.8NRAS, BRAF, RAF1, SOS1, KRAS, RIT1
20neurotrophin TRK receptor signaling pathwayGO:0480117.5PTPN11, RAF1, BRAF, NRAS, RIT1, SOS1

Molecular functions related to Noonan Syndrome 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1GTPase activityGO:0039249.2NRAS, RIT1, KRAS
2protein bindingGO:0055156.3BRAF, SOS1, KAT6B, NF1, RIT1, RAF1

Products for genes affiliated with Noonan Syndrome 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Noonan Syndrome 1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet