MCID: NVS002
MIFTS: 15

Nevo Syndrome malady

Genetic diseases, Rare diseases categories
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Summaries for Nevo Syndrome

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33MalaCards
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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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43NIH Rare Diseases, 20GeneTests, 62UMLS
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Classifications:

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


Aliases & Descriptions:

nevo syndrome 43 20 62
cerebral gigantism nevo type 43


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

Symptoms for Nevo Syndrome

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Drugs & Therapeutics for Nevo Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center 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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37MGI
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MGI Mouse Phenotypes related to Nevo Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1PLOD1, NSD1

Publications for Nevo Syndrome

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52PubMed
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Articles related to Nevo Syndrome:

idTitleAuthorsYear
1
Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome? (16329110)
2006
2
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers- Danlos syndrome (EDS VIA). (15666309)
2005
3
Nevo syndrome. (9508068)
1998
4
Further delineation of Nevo syndrome. (9152832)
1997
5
Nevo syndrome. (8574422)
1995

Variations for Nevo Syndrome

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Expression for genes affiliated with Nevo Syndrome

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2BioGPS, 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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50PathCards, 30KEGG
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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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29IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Nevo Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l-lysine29 24 1111.1PLOD1, 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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet