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 59

Characteristics:

Orphanet epidemiological data:

59
niemann-pick disease type c, severe perinatal form
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA216972
ICD10 via Orphanet 34 E75.2

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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