MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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expandcerebral lipidosis with dementia (MONDO:0020143)
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expandmonogenic disease with epilepsy (MONDO:0015653)
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expandNiemann-Pick disease (MONDO:0001982)
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expandsecondary interstitial lung disease in childhood and adulthood associated with a metabolic disease (MONDO:0017037)
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expandsphingolipidosis with epilepsy (MONDO:0018299)
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expandsupranuclear oculomotor palsy (MONDO:0020257)
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expandunclassified primitive or secondary maculopathy (MONDO:0020244)
..Starting node
..expandNiemann-Pick disease type C ()

       Child Nodes:
........expandNiemann-Pick disease type C, adult neurologic onset ()
........expandNiemann-Pick disease type C, juvenile neurologic onset ()
........expandNiemann-Pick disease type C, late infantile neurologic onset ()
........expandNiemann-Pick disease type C, severe early infantile neurologic onset ()
........expandNiemann-Pick disease type C, severe perinatal form ()
........expandNiemann-Pick disease, type C1 ()
........expandNiemann-Pick disease, type C2 ()



 Sister Nodes: 
..expandautosomal dominant osteopetrosis 2 ()
..expandBardet-Biedl syndrome ()
..expandcone-rod dystrophy ()
..expandcongenital hypotrichosis with juvenile macular dystrophy ()
..expandcystoid macular edema ()
..expandenhanced S-cone syndrome ()
..expandFarber lipogranulomatosis ()
..expandfoveal hypoplasia-presenile cataract syndrome ()
..expandgalactosialidosis ()
..expandGM1 gangliosidosis ()
..expandHermansky-Pudlak syndrome 2 ()
..expandinfantile Refsum disease ()
..expandKrabbe disease ()
..expandLaurence-Moon syndrome ()
..expandLeigh disease ()
..expandmetachromatic leukodystrophy ()
..expandmucolipidosis type IV ()
..expandneuronal ceroid lipofuscinosis ()
..expandNiemann-Pick disease type C ()
..expandRubinstein-Taybi syndrome ()
..expandSjogren-Larsson syndrome ()
..expandSorsby's fundus dystrophy ()
..expandX-linked retinoschisis ()
..expandZellweger syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18982
Name:Niemann-Pick disease type C
Definition:NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.
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Synonyms:NPC
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal