MCID: NMN011
MIFTS: 19

Niemann-Pick Disease Type C, Adult Neurologic Onset

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

Aliases & Classifications for Niemann-Pick Disease Type C, Adult Neurologic Onset

MalaCards integrated aliases for Niemann-Pick Disease Type C, Adult Neurologic Onset:

Name: Niemann-Pick Disease Type C, Adult Neurologic Onset 58 29

Characteristics:

Orphanet epidemiological data:

58
niemann-pick disease type c, adult neurologic onset
Inheritance: Autosomal recessive; Age of onset: Childhood;

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 ORPHA216986

Summaries for Niemann-Pick Disease Type C, Adult Neurologic Onset

MalaCards based summary : Niemann-Pick Disease Type C, Adult 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, Adult Neurologic Onset is NPC1 (NPC Intracellular Cholesterol Transporter 1), and among its related pathways/superpathways are Lipoprotein metabolism and Lysosome. Affiliated tissues include eye and brain.

Related Diseases for Niemann-Pick Disease Type C, Adult Neurologic Onset

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

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

(show all 36)
# 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, severe early infantile neurologic onset 9.9 NPC2 NPC1
4 niemann-pick disease type c, late infantile neurologic onset 9.9 NPC2 NPC1
5 niemann-pick disease type c, severe perinatal form 9.9 NPC2 NPC1
6 lysosomal and lipase deficiency 9.9 NPC2 NPC1
7 niemann-pick disease, type c2 9.8 NPC2 NPC1
8 niemann-pick disease, type b 9.8 NPC2 NPC1
9 gm1-gangliosidosis, type i 9.8 NPC2 NPC1
10 mucolipidosis iv 9.8 NPC2 NPC1
11 mucolipidosis 9.8 NPC2 NPC1
12 lysosomal acid lipase deficiency 9.8 NPC2 NPC1
13 sandhoff disease 9.8 NPC2 NPC1
14 niemann-pick disease, type a 9.8 NPC2 NPC1
15 sveinsson chorioretinal atrophy 9.8 NPC2 NPC1
16 gaucher disease, type i 9.8 NPC2 NPC1
17 gm2 gangliosidosis 9.8 NPC2 NPC1
18 gm1 gangliosidosis 9.8 NPC2 NPC1
19 c syndrome 9.8 NPC2 NPC1
20 krabbe disease 9.8 NPC2 NPC1
21 sphingolipidosis 9.8 NPC2 NPC1
22 ceroid lipofuscinosis, neuronal, 3 9.8 NPC2 NPC1
23 scheie syndrome 9.8 NPC2 NPC1
24 tay-sachs disease 9.8 NPC2 NPC1
25 niemann-pick disease, type c1 9.8 NPC2 NPC1
26 mucopolysaccharidosis iii 9.8 NPC2 NPC1
27 mucopolysaccharidosis-plus syndrome 9.8 NPC2 NPC1
28 lipid storage disease 9.8 NPC2 NPC1
29 metachromatic leukodystrophy 9.7 NPC2 NPC1
30 gaucher's disease 9.7 NPC2 NPC1
31 pick disease of brain 9.7 NPC1 NPC2
32 inherited metabolic disorder 9.7 NPC2 NPC1
33 lysosomal storage disease 9.7 NPC2 NPC1
34 neuronal ceroid lipofuscinosis 9.6 NPC2 NPC1
35 dementia 9.6 NPC2 NPC1
36 dystonia 9.5 NPC2 NPC1

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



Diseases related to Niemann-Pick Disease Type C, Adult Neurologic Onset

Symptoms & Phenotypes for Niemann-Pick Disease Type C, Adult Neurologic Onset

Drugs & Therapeutics for Niemann-Pick Disease Type C, Adult Neurologic Onset

Search Clinical Trials , NIH Clinical Center for Niemann-Pick Disease Type C, Adult Neurologic Onset

Genetic Tests for Niemann-Pick Disease Type C, Adult Neurologic Onset

Genetic tests related to Niemann-Pick Disease Type C, Adult Neurologic Onset:

# Genetic test Affiliating Genes
1 Niemann-Pick Disease Type C, Adult Neurologic Onset 29

Anatomical Context for Niemann-Pick Disease Type C, Adult Neurologic Onset

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

40
Eye, Brain

Publications for Niemann-Pick Disease Type C, Adult Neurologic Onset

Variations for Niemann-Pick Disease Type C, Adult Neurologic Onset

Expression for Niemann-Pick Disease Type C, Adult Neurologic Onset

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

Pathways for Niemann-Pick Disease Type C, Adult Neurologic Onset

GO Terms for Niemann-Pick Disease Type C, Adult Neurologic Onset

Cellular components related to Niemann-Pick Disease Type C, Adult 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, Adult 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 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, Adult 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, Adult Neurologic Onset

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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