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Niemann-Pick disease type C, severe perinatal form

MedGen UID:: 1842349
•Concept ID:: C5680866
•: Disease or Syndrome

Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0016306
Orphanet:	ORPHA216972

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Cerebral lipidosis with dementia
- Niemann-Pick disease, type C
  - Niemann-Pick disease type C, severe perinatal form

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Niemann-Pick disease type C, severe perinatal form
Niemann-Pick disease type C, severe perinatal form

MedGen
Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, severe early infantile neurologic onset

MedGen
Niemann-Pick disease type C, late infantile neurologic onset
Niemann-Pick disease type C, late infantile neurologic onset

MedGen
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, juvenile neurologic onset

MedGen
Niemann-Pick disease type C, adult neurologic onset
Niemann-Pick disease type C, adult neurologic onset

MedGen

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