MCID: NMN008
MIFTS: 17

Niemann-Pick Disease Type C, Severe Perinatal Form

Categories: Eye diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Niemann-Pick Disease Type C, Severe Perinatal Form

MalaCards integrated aliases for Niemann-Pick Disease Type C, Severe Perinatal Form:

Name: Niemann-Pick Disease Type C, Severe Perinatal Form 60

Characteristics:

Orphanet epidemiological data:

60
niemann-pick disease type c, severe perinatal form
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 E75.2
Orphanet 60 ORPHA216972

Summaries for Niemann-Pick Disease Type C, Severe Perinatal Form

MalaCards based summary : Niemann-Pick Disease Type C, Severe Perinatal Form is related to niemann-pick disease and niemann-pick disease type c, late infantile neurologic onset. An important gene associated with Niemann-Pick Disease Type C, Severe Perinatal Form is NPC2 (NPC Intracellular Cholesterol Transporter 2), and among its related pathways/superpathways are Lipoprotein metabolism and Lysosome. Affiliated tissues include eye.

Related Diseases for Niemann-Pick Disease Type C, Severe Perinatal Form

Graphical network of the top 20 diseases related to Niemann-Pick Disease Type C, Severe Perinatal Form:



Diseases related to Niemann-Pick Disease Type C, Severe Perinatal Form

Symptoms & Phenotypes for Niemann-Pick Disease Type C, Severe Perinatal Form

Drugs & Therapeutics for Niemann-Pick Disease Type C, Severe Perinatal Form

Search Clinical Trials , NIH Clinical Center for Niemann-Pick Disease Type C, Severe Perinatal Form

Genetic Tests for Niemann-Pick Disease Type C, Severe Perinatal Form

Anatomical Context for Niemann-Pick Disease Type C, Severe Perinatal Form

MalaCards organs/tissues related to Niemann-Pick Disease Type C, Severe Perinatal Form:

42
Eye

Publications for Niemann-Pick Disease Type C, Severe Perinatal Form

Variations for Niemann-Pick Disease Type C, Severe Perinatal Form

Expression for Niemann-Pick Disease Type C, Severe Perinatal Form

Search GEO for disease gene expression data for Niemann-Pick Disease Type C, Severe Perinatal Form.

Pathways for Niemann-Pick Disease Type C, Severe Perinatal Form

GO Terms for Niemann-Pick Disease Type C, Severe Perinatal Form

Cellular components related to Niemann-Pick Disease Type C, Severe Perinatal Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.62 NPC1 NPC2

Biological processes related to Niemann-Pick Disease Type C, Severe Perinatal Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.46 NPC1 NPC2
2 lipid transport GO:0006869 9.43 NPC1 NPC2
3 steroid metabolic process GO:0008202 9.4 NPC1 NPC2
4 cholesterol homeostasis GO:0042632 9.37 NPC1 NPC2
5 cholesterol metabolic process GO:0008203 9.32 NPC1 NPC2
6 cholesterol transport GO:0030301 9.26 NPC1 NPC2
7 cholesterol efflux GO:0033344 9.16 NPC1 NPC2
8 low-density lipoprotein particle clearance GO:0034383 8.96 NPC1 NPC2
9 intracellular cholesterol transport GO:0032367 8.62 NPC1 NPC2

Molecular functions related to Niemann-Pick Disease Type C, Severe Perinatal Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cholesterol binding GO:0015485 8.62 NPC1 NPC2

Sources for Niemann-Pick Disease Type C, Severe Perinatal Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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