MCID: NVS002
MIFTS: 15

Nevo Syndrome malady

Genetic diseases, Rare diseases categories

Summaries for Nevo Syndrome

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34MalaCards
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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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44NIH Rare Diseases, 21GeneTests, 63UMLS
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Classifications:

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


Aliases & Descriptions:

nevo syndrome 44 21 63
cerebral gigantism nevo type 44


Related Diseases for Nevo Syndrome

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18GeneCards, 19GeneDecks
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests
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Genetic tests related to Nevo Syndrome:

id Genetic test Affiliating Genes
1 Nevo Syndrome21

Anatomical Context for Nevo Syndrome

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Animal Models for Nevo Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Nevo Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1PLOD1, NSD1

Publications for Nevo Syndrome

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53PubMed
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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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Sources:
2BioGPS, 16Gene 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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51PathCards, 31KEGG
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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:
30IUPHAR, 25HMDB, 12DrugBank
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Compounds related to Nevo Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l-lysine30 25 1211.1PLOD1, 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet