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MCID: NMN010
MIFTS: 17
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Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset
Categories:
Neuronal diseases, Eye diseases, Respiratory diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Niemann-Pick Disease Type C, Severe Early Infantile Neurologic...
MalaCards integrated aliases for Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset:
Name: Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset
59
Characteristics:Orphanet epidemiological data:59
niemann-pick disease type c, severe early infantile neurologic onset
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Classifications:
MalaCards categories:
Global: Metabolic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Respiratory diseases
ICD10:
34
Orphanet: 59
Rare neurological diseases
Rare eye diseases
Rare respiratory diseases
Inborn errors of metabolism
External Ids:
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MalaCards based summary
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Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset is related to niemann-pick disease type c, severe perinatal form and niemann-pick disease type c, late infantile neurologic onset. An important gene associated with Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset is NPC2 (NPC Intracellular Cholesterol Transporter 2), and among its related pathways/superpathways are Lipoprotein metabolism and Lysosome. Affiliated tissues include eye.
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MalaCards organs/tissues related to Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset:41
Eye
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Genes related to Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset (2 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset.
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Pathways related to Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset according to GeneCards Suite gene sharing:
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Cellular components related to Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset according to GeneCards Suite gene sharing:
Biological processes related to Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset according to GeneCards Suite gene sharing:
Molecular functions related to Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset according to GeneCards Suite gene sharing:
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