loading...| Preferred Name |
NIEMANN-PICK DISEASE, TYPE C1 |
| Synonyms |
NIEMANN-PICK DISEASE, NOVA SCOTIAN TYPE |
| ID |
http://purl.bioontology.org/ontology/OMIM/257220 |
| altLabel |
NIEMANN-PICK DISEASE, NOVA SCOTIAN TYPE NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA NPC1 NPC NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK NIEMANN-PICK DISEASE, TYPE C NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM NIEMANN-PICK DISEASE, TYPE D NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM |
| cui |
C0268247 C1850363 C0220756 C3179455 |
| Gene Locus |
18q11-q12 |
| Gene Symbol |
NPC NPC1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU003014 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU000778 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU003012 http://purl.bioontology.org/ontology/OMIM/MTHU003018 http://purl.bioontology.org/ontology/OMIM/MTHU003016 http://purl.bioontology.org/ontology/OMIM/MTHU003010 http://purl.bioontology.org/ontology/OMIM/MTHU003022 http://purl.bioontology.org/ontology/OMIM/MTHU003020 http://purl.bioontology.org/ontology/OMIM/MTHU010528 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU003011 http://purl.bioontology.org/ontology/OMIM/MTHU003017 http://purl.bioontology.org/ontology/OMIM/MTHU003015 http://purl.bioontology.org/ontology/OMIM/MTHU003009 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU000244 http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU003019 http://purl.bioontology.org/ontology/OMIM/MTHU003021 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU025967 http://purl.bioontology.org/ontology/OMIM/MTHU003023 http://purl.bioontology.org/ontology/OMIM/MTHU000535 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
257050 246800 257250 |
| notation |
257220 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
NIEMANN-PICK DISEASE, TYPE C1 |
| Scope Statement |
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] Incidence of 1% in Yarmouth County, Nova Scotia [MISCELLANEOUS] Variable phenotype [MISCELLANEOUS] Death usually in teenage years [MISCELLANEOUS] Incidence of 1 in 150,000 live births in the general population [MISCELLANEOUS] Estimated carrier frequency of 10-25% in Yarmouth County, Nova Scotia [MISCELLANEOUS] Disease usually becomes apparent in early childhood [MISCELLANEOUS] Genetic heterogeneity (see NPC2, 607625) [MISCELLANEOUS] Earlier onset associated with faster progression and shorter life span [MISCELLANEOUS] Caused by mutation in the NPC intracellular cholesterol transporter 1 gene (NPC1, 607623.0001) [MOLECULAR BASIS] Four major groups: early infantile, late infantile, juvenile, adult [MISCELLANEOUS] |
| tui |
T047 |