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Online Mendelian Inheritance in Man
| Preferred Name | NIEMANN-PICK DISEASE, TYPE C1 | |
| Synonyms |
NPC1 NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA NPC NIEMANN-PICK DISEASE, TYPE C NIEMANN-PICK DISEASE, NOVA SCOTIAN TYPE NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM NIEMANN-PICK DISEASE, TYPE D |
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| ID |
http://purl.bioontology.org/ontology/OMIM/257220 |
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| altLabel |
NPC1 NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA NPC NIEMANN-PICK DISEASE, TYPE C NIEMANN-PICK DISEASE, NOVA SCOTIAN TYPE NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM NIEMANN-PICK DISEASE, TYPE D
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| cui |
C0220756 C0268247 C1850363 C3179455
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| Gene Locus |
18q11-q12
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| Gene Symbol |
NPC1 NPC
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| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU025967 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU003021 http://purl.bioontology.org/ontology/OMIM/MTHU003019 http://purl.bioontology.org/ontology/OMIM/MTHU003012 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU000535 http://purl.bioontology.org/ontology/OMIM/MTHU000778 http://purl.bioontology.org/ontology/OMIM/MTHU003014 http://purl.bioontology.org/ontology/OMIM/MTHU003010 http://purl.bioontology.org/ontology/OMIM/MTHU010528 http://purl.bioontology.org/ontology/OMIM/MTHU000244 http://purl.bioontology.org/ontology/OMIM/MTHU003018 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU003009 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU002910 http://purl.bioontology.org/ontology/OMIM/MTHU003017 http://purl.bioontology.org/ontology/OMIM/MTHU003011 http://purl.bioontology.org/ontology/OMIM/MTHU003020 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU003023 http://purl.bioontology.org/ontology/OMIM/MTHU003022 http://purl.bioontology.org/ontology/OMIM/MTHU003016 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known.
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| Moved from |
257250 246800 257050
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| notation |
257220
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| OMIM Entry Type |
3
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| OMIM MimType Value |
pound
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| prefLabel |
NIEMANN-PICK DISEASE, TYPE C1
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| Scope Statement |
Incidence of 1 in 150,000 live births in the general population [MISCELLANEOUS] Death usually in teenage years [MISCELLANEOUS] Genetic heterogeneity (see NPC2, 607625) [MISCELLANEOUS] Incidence of 1% in Yarmouth County, Nova Scotia [MISCELLANEOUS] Four major groups: early infantile, late infantile, juvenile, adult [MISCELLANEOUS] Disease usually becomes apparent in early childhood [MISCELLANEOUS] Earlier onset associated with faster progression and shorter life span [MISCELLANEOUS] Variable phenotype [MISCELLANEOUS] Nova Scotian variant (type D) is considered a genetic isolate of NPC1 and is associated with a mutation in the NPC1 gene (607623.0004) [MISCELLANEOUS] Caused by mutation in the NPC intracellular cholesterol transporter 1 gene (NPC1, 607623.0001) [MOLECULAR BASIS] Estimated carrier frequency of 10-25% in Yarmouth County, Nova Scotia [MISCELLANEOUS]
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| tui |
T047
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