MCID: NVS002
MIFTS: 23

Nevo Syndrome malady

Genetic diseases, Rare diseases categories
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Summaries for Nevo Syndrome

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NIH Rare Diseases:42 This disease has been moved to ehlers danlos syndrome, kyphoscoliotic type last updated: 11/12/2014

MalaCards based summary: 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.

Description from OMIM:46 601451

Aliases & Classifications for Nevo Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 48Orphanet, 46OMIM, 62UMLS, 35MESH via Orphanet, 63UMLS via Orphanet
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Nevo Syndrome, Aliases & Descriptions:

Name: Nevo Syndrome 42 20 48 46 62
Cerebral Gigantism Nevo Type 42 62
 
Cerebral Gigantism, Nevo Type 48


Classifications:

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


External Ids:

OMIM46 601451
MESH via Orphanet35 C536113
UMLS via Orphanet63 C2936777

Related Diseases for Nevo Syndrome

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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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Clinical features from OMIM:

601451

Drugs & Therapeutics for Nevo Syndrome

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Drug clinical trials:

Search ClinicalTrials for Nevo Syndrome

Search NIH Clinical Center for Nevo Syndrome

Genetic Tests for Nevo Syndrome

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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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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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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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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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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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Compounds related to Nevo Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l-lysine28 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

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