MCID: SFM001
MIFTS: 23

Sfm Syndrome, Somatic Mosaic malady

Genetic diseases (common) category
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Summaries for Sfm Syndrome, Somatic Mosaic

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MalaCards based summary: Sfm Syndrome, Somatic Mosaic is related to cardiofaciocutaneous syndrome and costello syndrome. An important gene associated with Sfm Syndrome, Somatic Mosaic is KRAS (Kirsten rat sarcoma viral oncogene homolog), and among its related pathways are Apoptosis Pathway and Prolactin signaling pathway. The compounds farnesyl diphosphate and crcs have been mentioned in the context of this disorder.

Description from OMIM:46 163200

Aliases & Classifications for Sfm Syndrome, Somatic Mosaic

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Sfm Syndrome, Somatic Mosaic, Aliases & Descriptions:

Name: Sfm Syndrome, Somatic Mosaic 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Sfm Syndrome, Somatic Mosaic

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Graphical network of the top 20 diseases related to Sfm Syndrome, Somatic Mosaic:



Diseases related to sfm syndrome, somatic mosaic

Symptoms for Sfm Syndrome, Somatic Mosaic

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Clinical features from OMIM:

163200

Drugs & Therapeutics for Sfm Syndrome, Somatic Mosaic

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Drug clinical trials:

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Search NIH Clinical Center for Sfm Syndrome, Somatic Mosaic

Genetic Tests for Sfm Syndrome, Somatic Mosaic

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Anatomical Context for Sfm Syndrome, Somatic Mosaic

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Animal Models for Sfm Syndrome, Somatic Mosaic or affiliated genes

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Publications for Sfm Syndrome, Somatic Mosaic

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Variations for Sfm Syndrome, Somatic Mosaic

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UniProtKB/Swiss-Prot genetic disease variations for Sfm Syndrome, Somatic Mosaic:

64
id Symbol AA change Variation ID SNP ID
1HRASp.Gly13ArgVAR_068817

Clinvar genetic disease variations for Sfm Syndrome, Somatic Mosaic:

6
id Gene Name Type Significance SNP ID Assembly Location
1KRASNM_033360.3(KRAS): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs121913529GRCh37Chr 12, 25398284: 25398284
2HRASNM_005343.2(HRAS): c.37G> C (p.Gly13Arg)single nucleotide variantPathogenicrs104894228GRCh37Chr 11, 534286: 534286

Expression for genes affiliated with Sfm Syndrome, Somatic Mosaic

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Expression patterns in normal tissues for genes affiliated with Sfm Syndrome, Somatic Mosaic

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Pathways for genes affiliated with Sfm Syndrome, Somatic Mosaic

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Pathways related to Sfm Syndrome, Somatic Mosaic according to GeneCards/GeneDecks:

(show top 50)    (show all 67)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1HRAS, KRAS
2
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
9.1KRAS, HRAS
3
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
9.1KRAS, HRAS
4
Show member pathways
9.1HRAS, KRAS
59.1HRAS, KRAS
6
Show member pathways
9.1HRAS, KRAS
79.1KRAS, HRAS
89.1KRAS, HRAS
99.1HRAS, KRAS
10
Show member pathways
9.1HRAS, KRAS
11
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.1KRAS, HRAS
12
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
9.1KRAS, HRAS
13
Show member pathways
Signaling Pathways in Glioblastoma37
9.1HRAS, KRAS
14
Show member pathways
9.1HRAS, KRAS
15
Show member pathways
9.1KRAS, HRAS
16
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.1KRAS, HRAS
179.1HRAS, KRAS
18
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
9.1KRAS, HRAS
19
Show member pathways
9.1HRAS, KRAS
209.1KRAS, HRAS
21
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways60
Immune response IL 1 signaling pathway60
9.1KRAS, HRAS
22
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
9.1HRAS, KRAS
23
Show member pathways
Immune response CD16 signaling in NK cells60
9.1KRAS, HRAS
24
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells37
9.1KRAS, HRAS
25
Show member pathways
Signal transduction PTEN pathway60
9.1KRAS, HRAS
26
Show member pathways
Signal transduction cAMP signaling60
9.1KRAS, HRAS
27
Show member pathways
9.1HRAS, KRAS
28
Show member pathways
9.1KRAS, HRAS
299.1HRAS, KRAS
30
Show member pathways
9.1HRAS, KRAS
319.1HRAS, KRAS
329.1HRAS, KRAS
33
Show member pathways
9.1HRAS, KRAS
349.1KRAS, HRAS
359.1HRAS, KRAS
36
Show member pathways
9.1KRAS, HRAS
37
Show member pathways
9.1KRAS, HRAS
38
Show member pathways
9.1KRAS, HRAS
39
Show member pathways
9.1KRAS, HRAS
409.1HRAS, KRAS
41
Show member pathways
ErbB receptor signaling network37
ErbB signaling pathway37
9.1KRAS, HRAS
42
Show member pathways
9.1KRAS, HRAS
439.1KRAS, HRAS
44
Show member pathways
9.1HRAS, KRAS
459.1HRAS, KRAS
46
Show member pathways
9.1KRAS, HRAS
47
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
9.1HRAS, KRAS
48
Show member pathways
9.1KRAS, HRAS
49
Show member pathways
9.1KRAS, HRAS
50
Show member pathways
EGFR-dependent Endothelin signaling events37
9.1KRAS, HRAS

Compounds for genes affiliated with Sfm Syndrome, Somatic Mosaic

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Compounds related to Sfm Syndrome, Somatic Mosaic according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1farnesyl diphosphate44 28 1111.4HRAS, KRAS
2crcs449.4HRAS, KRAS
3valine449.4HRAS, KRAS
4paclitaxel44 50 1111.3KRAS, HRAS
5rapamycin449.3HRAS, KRAS
6ly294002449.3HRAS, KRAS
7wortmannin449.2KRAS, HRAS
8phosphoinositide449.2HRAS, KRAS
9paraffin449.1HRAS, KRAS
10Guanosine triphosphate249.1HRAS, KRAS
11gtp44 2810.0KRAS, HRAS
12cisplatin44 50 61 1111.8HRAS, KRAS

GO Terms for genes affiliated with Sfm Syndrome, Somatic Mosaic

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Biological processes related to Sfm Syndrome, Somatic Mosaic according to GeneCards/GeneDecks:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of Rac protein signal transductionGO:0350229.5HRAS, KRAS
2regulation of synaptic transmission, GABAergicGO:0322289.5HRAS, KRAS
3striated muscle cell differentiationGO:0511469.5HRAS, KRAS
4regulation of long-term neuronal synaptic plasticityGO:0481699.5KRAS, HRAS
5social behaviorGO:0351769.5HRAS, KRAS
6visual learningGO:0085429.5HRAS, KRAS
7positive regulation of MAP kinase activityGO:0434069.5KRAS, HRAS
8activation of MAPKK activityGO:0001869.4HRAS, KRAS
9MAPK cascadeGO:0001659.4HRAS, KRAS
10Ras protein signal transductionGO:0072659.4KRAS, HRAS
11positive regulation of protein phosphorylationGO:0019349.4HRAS, KRAS
12leukocyte migrationGO:0509009.4HRAS, KRAS
13negative regulation of neuron apoptotic processGO:0435249.4KRAS, HRAS
14GTP catabolic processGO:0061849.4HRAS, KRAS
15actin cytoskeleton organizationGO:0300369.4HRAS, KRAS
16insulin receptor signaling pathwayGO:0082869.3KRAS, HRAS
17fibroblast growth factor receptor signaling pathwayGO:0085439.3HRAS, KRAS
18Fc-epsilon receptor signaling pathwayGO:0380959.3HRAS, KRAS
19epidermal growth factor receptor signaling pathwayGO:0071739.2KRAS, HRAS
20neurotrophin TRK receptor signaling pathwayGO:0480119.2HRAS, KRAS
21small GTPase mediated signal transductionGO:0072649.1HRAS, KRAS
22blood coagulationGO:0075969.1HRAS, KRAS
23axon guidanceGO:0074119.0KRAS, HRAS
24positive regulation of cell proliferationGO:0082848.8HRAS, KRAS

Molecular functions related to Sfm Syndrome, Somatic Mosaic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1GTP bindingGO:0055259.1HRAS, KRAS

Products for genes affiliated with Sfm Syndrome, Somatic Mosaic

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Sources for Sfm Syndrome, Somatic Mosaic

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet