MCID: NMN010
MIFTS: 16

Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset

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

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 58

Characteristics:

Orphanet epidemiological data:

58
niemann-pick disease type c, severe early infantile neurologic onset
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 ORPHA216975

Summaries for Niemann-Pick Disease Type C, Severe Early Infantile Neurologic...

MalaCards based summary : Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 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 Early Infantile Neurologic Onset 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 Early Infantile Neurologic...

Diseases in the Niemann-Pick Disease Type C, Juvenile Neurologic Onset family:

Niemann-Pick Disease Type C, Late Infantile Neurologic Onset Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset
Niemann-Pick Disease Type C, Adult Neurologic Onset

Diseases related to Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease 9.8 NPC2 NPC1
2 niemann-pick disease type c, juvenile neurologic onset 9.8 NPC2 NPC1
3 niemann-pick disease type c, adult neurologic onset 9.8 NPC2 NPC1
4 niemann-pick disease type c, late infantile neurologic onset 9.7 NPC2 NPC1
5 niemann-pick disease type c, severe perinatal form 9.7 NPC2 NPC1
6 lysosomal and lipase deficiency 9.7 NPC2 NPC1
7 niemann-pick disease, type b 9.7 NPC2 NPC1
8 niemann-pick disease, type c2 9.7 NPC2 NPC1
9 farber lipogranulomatosis 9.7 NPC2 NPC1
10 mucolipidosis iv 9.7 NPC2 NPC1
11 gm1 gangliosidosis 9.7 NPC2 NPC1
12 aspiration pneumonia 9.7 NPC2 NPC1
13 lysosomal acid lipase deficiency 9.7 NPC2 NPC1
14 niemann-pick disease, type a 9.7 NPC2 NPC1
15 sandhoff disease 9.7 NPC2 NPC1
16 mucopolysaccharidosis iii 9.7 NPC2 NPC1
17 gm2 gangliosidosis 9.7 NPC2 NPC1
18 tay-sachs disease 9.6 NPC2 NPC1
19 niemann-pick disease, type c1 9.6 NPC2 NPC1
20 sphingolipidosis 9.6 NPC2 NPC1
21 lipid storage disease 9.6 NPC2 NPC1
22 inherited metabolic disorder 9.6 NPC2 NPC1
23 lysosomal storage disease 9.6 NPC2 NPC1
24 neuronal ceroid lipofuscinosis 9.5 NPC2 NPC1
25 aceruloplasminemia 9.5 NPC2 NPC1
26 dementia 9.4 NPC2 NPC1
27 dystonia 9.2 NPC2 NPC1

Graphical network of the top 20 diseases related to Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset:



Diseases related to Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset

Symptoms & Phenotypes for Niemann-Pick Disease Type C, Severe Early Infantile Neurologic...

Drugs & Therapeutics for Niemann-Pick Disease Type C, Severe Early Infantile Neurologic...

Search Clinical Trials , NIH Clinical Center for Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset

Genetic Tests for Niemann-Pick Disease Type C, Severe Early Infantile Neurologic...

Anatomical Context for Niemann-Pick Disease Type C, Severe Early Infantile Neurologic...

MalaCards organs/tissues related to Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset:

40
Eye

Publications for Niemann-Pick Disease Type C, Severe Early Infantile Neurologic...

Variations for Niemann-Pick Disease Type C, Severe Early Infantile Neurologic...

Expression for Niemann-Pick Disease Type C, Severe Early Infantile Neurologic...

Search GEO for disease gene expression data for Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset.

Pathways for Niemann-Pick Disease Type C, Severe Early Infantile Neurologic...

Pathways related to Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 NPC2 NPC1
2 11.25 NPC2 NPC1
3
Show member pathways
11.03 NPC2 NPC1
4
Show member pathways
9.77 NPC2 NPC1

GO Terms for Niemann-Pick Disease Type C, Severe Early Infantile Neurologic...

Cellular components related to Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 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 Early Infantile Neurologic Onset 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 homeostasis GO:0042632 9.37 NPC2 NPC1
5 cholesterol metabolic process GO:0008203 9.32 NPC2 NPC1
6 low-density lipoprotein particle clearance GO:0034383 9.26 NPC2 NPC1
7 cholesterol transport GO:0030301 9.16 NPC2 NPC1
8 cholesterol efflux GO:0033344 8.96 NPC2 NPC1
9 intracellular cholesterol transport GO:0032367 8.62 NPC2 NPC1

Molecular functions related to Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 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 Early Infantile Neurologic...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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