MCID: NVS002
MIFTS: 10

Nevo Syndrome malady

Summaries for Nevo Syndrome

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32MalaCards
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MalaCards: Nevo Syndrome, also known as cerebral gigantism nevo type, is related to sotos syndrome and ehlers-danlos syndrome. An important gene associated with Nevo Syndrome is PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1), and among its related pathways is Lysine degradation. The compound l-lysine have been mentioned in the context of this disorder. Related mouse phenotype no phenotypic analysis.

Aliases & Classifications for Nevo Syndrome

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42NIH Rare Diseases, 20GeneTests, 60UMLS
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Aliases & Descriptions:

nevo syndrome 42 20 60
cerebral gigantism nevo type 42


Related Diseases for Nevo Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Nevo Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1sotos syndrome10.1
2ehlers-danlos syndrome10.1
3ehlers-danlos syndrome kyphoscoliotic type10.1

Clinical Features for Nevo Syndrome

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Drugs & Therapeutics for Nevo Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Nevo Syndrome

Drug clinical trials:

Search ClinicalTrials for Nevo Syndrome

Search NIH Clinical Center for Nevo Syndrome

Search CenterWatch for Nevo Syndrome

Genetic Tests for Nevo Syndrome

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20GeneTests
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Genetic tests related to Nevo Syndrome:

id Genetic test Affiliating Genes
1 Nevo Syndrome20

Anatomical Context for Nevo Syndrome

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Animal Models for Nevo Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Nevo Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1PLOD1, NSD1

Publications for Nevo Syndrome

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Genetic Variations for Nevo Syndrome

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Expression for genes affiliated with Nevo Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nevo Syndrome

Search GEO for disease gene expression data for Nevo Syndrome.

Pathways for genes affiliated with Nevo Syndrome

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29KEGG
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Pathways related to Nevo Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1PLOD1, NSD1

Compounds for genes affiliated with Nevo Syndrome

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Sources:
28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Nevo Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l-lysine28 11 2411.1PLOD1, NSD1

GO Terms for genes affiliated with Nevo Syndrome

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Products for genes affiliated with Nevo Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nevo Syndrome

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet