NS1
MCID: NNN008
MIFTS: 69

Noonan Syndrome 1 (NS1) malady

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

Summaries for Noonan Syndrome 1

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 influenza, and has symptoms including hypotonia, undescended/ectopic testes/cryptorchidia/unfixed testes and structural anomalies of the genital system. 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, testes and skin, and related mouse phenotypes are limbs/digits/tail and skeleton.

Description from OMIM:46 163950, 605275, 609942, 610733, 611553 613224, 613706, 615355 more

Aliases & Classifications for Noonan Syndrome 1

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48Orphanet, 60UMLS, 42NIH Rare Diseases, 22GTR, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
noonan syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

noonan syndrome 1 42 22 46
noonan syndrome 48 60
ns1 42


External Ids:

ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet57 205684007, 205824006
UMLS via Orphanet61 C0028326
MESH via Orphanet35 D009634

Related Diseases for Noonan Syndrome 1

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17GeneCards, 18GeneDecks
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Diseases in the Noonan Syndrome 1 family:

Noonan Syndrome Noonan Syndrome 2
Noonan Syndrome 3 Noonan Syndrome 4
Noonan Syndrome 5 Noonan Syndrome 6
Ptpn11-Related Noonan Syndrome Kras-Related Noonan Syndrome
Sos1-Related Noonan Syndrome Raf1-Related Noonan Syndrome
Nras-Related Noonan Syndrome Braf-Related Noonan Syndrome
Map2k1-Related Noonan Syndrome 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 195)
idRelated DiseaseScoreTop Affiliating Genes
1noonan syndrome31.9PTPN11, NF1, KRAS, RAF1, NRAS, BRAF
2influenza31.3NF1, PTPN11
3neurofibromatosis31.0KRAS, NF1, PTPN11
4hypertrophic cardiomyopathy30.9PTPN11
5encephalitis30.8RAF1
6leukemia30.8RAF1, KRAS, KAT6B, PTPN11, NF1, NRAS
7juvenile myelomonocytic leukemia30.7NF1, PTPN11
8noonan syndrome 530.6RAF1
9neurofibromatosis-noonan syndrome30.6NF1, PTPN11
10acute leukemia30.5KRAS, PTPN11, NF1
11leopard syndrome30.4SOS1, RAF1, PTPN11
12tick-borne encephalitis30.4RAF1
13murray valley encephalitis30.3RAF1
14cardiofaciocutaneous syndrome30.3BRAF, KRAS
15costello syndrome30.3KRAS, SOS1, BRAF, PTPN11
16cherubism30.2PTPN11
17myeloid leukemia30.1RAF1, NF1, PTPN11
18congenital heart defect30.1SOS1, BRAF, RAF1, PTPN11
19dengue disease30.0KRAS, RAF1
20astrocytoma29.9NF1
21hepatitis c29.8PTPN11, KRAS, RAF1, SOS1
22hepatitis29.8SOS1, KRAS, RAF1
23avian influenza10.5
24adult syndrome10.5
25noonan syndrome 310.5
26japanese encephalitis10.4
27noonan syndrome 410.4
28noonan syndrome 610.4
29saldino-noonan syndrome10.4
30noonan syndrome 210.4
31noonan-like syndrome disorder with or without juvenile myelomonocytic leukemia10.4
32systemic lupus erythematosus10.3
33lupus erythematosus10.3
34lymphoblastic leukemia10.3
35rhabdomyosarcoma10.3
36granular cell tumor10.2
37retinitis10.2
38vaccinia10.2
39louping ill10.2
40coloboma10.2
41retinitis pigmentosa10.2
42lymphedema10.2
43turner syndrome10.2
44kras-related noonan syndrome10.2
45sos1-related noonan syndrome10.2
46raf1-related noonan syndrome10.2
47nras-related noonan syndrome10.2
48braf-related noonan syndrome10.2
49noonan syndrome 810.2
50noonan syndrome 710.2

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



Diseases related to noonan syndrome 1

Clinical Features for Noonan Syndrome 1

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46OMIM, 48Orphanet
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Clinical features from OMIM:

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

Clinical synopsis from OMIM:

163950

Symptoms:

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

Drugs & Therapeutics for Noonan Syndrome 1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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22GTR
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Genetic tests related to Noonan Syndrome 1:

id Genetic test Affiliating Genes
1 Noonan Syndrome 122

Anatomical Context for Noonan Syndrome 1

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32MalaCards
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MalaCards organs/tissues related to Noonan Syndrome 1:

32
Heart, Testes, Skin, Eye, Bone, Spleen, Liver

Animal Models for Noonan Syndrome 1 or affiliated genes

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36MGI
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Publications for Noonan Syndrome 1

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Genetic Variations for Noonan Syndrome 1

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Noonan Syndrome 1:

62 (show all 32)
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG, 59Tocris Bioscience, 12EMD Millipore, 51QIAGEN, 52R&D Systems, 4Cell Signaling Technology, 49PharmGKB
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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

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44Novoseek, 59Tocris Bioscience, 49PharmGKB, 11DrugBank, 28IUPHAR
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Compounds related to Noonan Syndrome 1 according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1pd-1843524410.0RAF1, KRAS
2gdc 08795910.0BRAF, RAF1
3l-779,4505910.0BRAF, RAF1
4panitumumab44 49 1112.0BRAF, KRAS
5gw 5074599.9BRAF, RAF1
6sb 590885599.9BRAF, RAF1
7gw-5074449.9RAF1, BRAF
8zm 33637244 5910.9RAF1, BRAF
9Dabrafenib119.9RAF1, BRAF
10o6-methylguanine449.8KRAS, BRAF
11Regorafenib119.8RAF1, BRAF
12sodium orthovanadate44 5910.8PTPN11, RAF1
13cetuximab44 49 1111.8KRAS, BRAF
14crcs449.7KRAS, BRAF
1517-(allylamino)-17-demethoxygeldanamycin449.5BRAF, RAF1
16valine449.5BRAF, RAF1, KRAS
17sb 20358044 5910.3BRAF, RAF1, PTPN11
18imatinib44 49 1111.3PTPN11, KRAS, RAF1, BRAF
19ly294002449.2PTPN11, KRAS, RAF1, BRAF
20wortmannin449.2BRAF, RAF1, KRAS, PTPN11
21phosphoinositide449.2PTPN11, KRAS, RAF1, BRAF
22cisplatin44 49 59 1112.2PTPN11, KRAS, RAF1, BRAF
23agar449.1BRAF, NRAS, RAF1, PTPN11
24forskolin44 49 1111.1BRAF, NF1, RAF1, PTPN11
25vegf449.1BRAF, RAF1, KRAS, PTPN11
26paclitaxel44 49 1110.9KRAS, RAF1, BRAF
27rapamycin448.9BRAF, NF1, RAF1, KRAS, PTPN11
28alanine448.8PTPN11, RAF1, NF1, BRAF
29gtp44 289.4BRAF, SOS1, NF1, RAF1, KRAS
30oligonucleotide448.3PTPN11, KRAS, RAF1, NF1, NRAS, BRAF
31lipid448.3PTPN11, KRAS, NF1, SOS1, BRAF
32phosphatidylinositol448.0BRAF, SOS1, NF1, RAF1, KRAS, PTPN11
33serine448.0BRAF, SOS1, NF1, RAF1, KRAS, PTPN11
34tyrosine447.5BRAF, SOS1, NRAS, NF1, RAF1, KRAS

GO Terms for genes affiliated with Noonan Syndrome 1

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

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

idNameGO IDScoreTop Affiliating Genes
1GTPase activityGO:0039249.2KRAS, RIT1, NRAS
2protein bindingGO:0055156.3PTPN11, BRAF, SOS1, KAT6B, NF1, RIT1

Products for genes affiliated with Noonan Syndrome 1

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  • Antibodies
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  • Lysates
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Sources for Noonan Syndrome 1

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet