MCID: NMN008
MIFTS: 16

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 58

Characteristics:

Orphanet epidemiological data:

58
niemann-pick disease type c, severe perinatal form
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare respiratory diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E75.2
Orphanet 58 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, juvenile neurologic onset. An important gene associated with Niemann-Pick Disease Type C, Severe Perinatal Form is NPC1 (NPC Intracellular Cholesterol Transporter 1), 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

Diseases related to Niemann-Pick Disease Type C, Severe Perinatal Form via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease 9.9 NPC2 NPC1
2 niemann-pick disease type c, juvenile neurologic onset 9.9 NPC2 NPC1
3 niemann-pick disease type c, adult neurologic onset 9.8 NPC2 NPC1
4 niemann-pick disease type c, severe early infantile neurologic onset 9.8 NPC2 NPC1
5 niemann-pick disease type c, late infantile neurologic onset 9.8 NPC2 NPC1
6 lysosomal and lipase deficiency 9.8 NPC2 NPC1
7 niemann-pick disease, type c2 9.8 NPC2 NPC1
8 gm1-gangliosidosis, type i 9.8 NPC2 NPC1
9 niemann-pick disease, type b 9.8 NPC2 NPC1
10 aspiration pneumonia 9.8 NPC2 NPC1
11 mucolipidosis iv 9.8 NPC2 NPC1
12 lysosomal acid lipase deficiency 9.8 NPC2 NPC1
13 gm1 gangliosidosis 9.8 NPC2 NPC1
14 c syndrome 9.8 NPC2 NPC1
15 sandhoff disease 9.8 NPC2 NPC1
16 sveinsson chorioretinal atrophy 9.8 NPC2 NPC1
17 niemann-pick disease, type a 9.8 NPC2 NPC1
18 gm2 gangliosidosis 9.8 NPC2 NPC1
19 krabbe disease 9.8 NPC2 NPC1
20 sphingolipidosis 9.8 NPC2 NPC1
21 ceroid lipofuscinosis, neuronal, 3 9.8 NPC2 NPC1
22 mucopolysaccharidosis iii 9.8 NPC2 NPC1
23 tay-sachs disease 9.8 NPC2 NPC1
24 niemann-pick disease, type c1 9.8 NPC2 NPC1
25 mucopolysaccharidosis-plus syndrome 9.8 NPC2 NPC1
26 lipid storage disease 9.8 NPC2 NPC1
27 metachromatic leukodystrophy 9.7 NPC2 NPC1
28 gaucher's disease 9.7 NPC2 NPC1
29 pick disease of brain 9.7 NPC2 NPC1
30 inherited metabolic disorder 9.7 NPC2 NPC1
31 lysosomal storage disease 9.7 NPC2 NPC1
32 gaucher disease, type i 9.6 NPC2 NPC1
33 dementia 9.6 NPC2 NPC1
34 dystonia 9.5 NPC2 NPC1

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:

40
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 NPC2 NPC1

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

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 NPC2 NPC1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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