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Details
Link-It Detail - Disease - Niemann-Pick Disease, Type A
Debug Stats
  • ### Total Build Time: 250 ms 24.129 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 354 bytes
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Disease (1)
Niemann-Pick Disease, Type A C0268242
Definition (1)
The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Niemann-Pick Diseases C0028064
Ancestral Roots
RootRoot Plus OneDepthParent
img Hemic and Lymphatic Diseases C0018981img Lymphatic Diseases C00242286img Niemann-Pick Diseases C0028064
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Niemann-Pick Diseases C0028064
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255178img Niemann-Pick Diseases C0028064
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501238img Niemann-Pick Diseases C0028064
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076829img Niemann-Pick Diseases C0028064
Relationships (42)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 37
diso_​to_​phen : 1


Relationships:
none : 3
associated_​with : 2
manifestation_​of : 35
permuted_​term_​of : 1
related_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN8img genetic aspects C0017399
DISO_to_CHEM7img SPHINGOMYELINASE C0037903
DISO_to_CHEM7img Sphingomyelin Phosphodiesterase C0037903
DISO_to_ANATmanifestation_ofimg 'Sea blue' histiocytes C0333836
DISO_to_CHEMassociated_withimg SPHINGOMYELINASE C0037903
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg ANEMIA MICROCYTIC C0085576
DISO_to_DISOmanifestation_ofimg Allelic disorder to Nieman-Pick disease type B (607616) C1850379
DISO_to_DISOmanifestation_ofimg Athetosis (later) C1850372
DISO_to_DISOmanifestation_ofimg Caused by mutations in the acid lysosomal sphingomyelin phosphodiesterase-1 gene (SMPD1, 607608.0001) C1850377
DISO_to_DISOmanifestation_ofimg Cherry-red maculae (50%) C1850373
DISO_to_DISOmanifestation_ofimg Constipation C0009806
DISO_to_DISOmanifestation_ofimg Death by age 3 years C1850378
DISO_to_DISOmanifestation_ofimg Decreased Reflex C0151888
DISO_to_DISOmanifestation_ofimg Decreased acid sphingomyelinase activity (less than 5%) C1850375
DISO_to_DISOmanifestation_ofimg Diffuse reticular or finely nodular infiltrations C1843428
DISO_to_DISOmanifestation_ofimg Electron microscopy of foam cells shows lamellar inclusions C1843424
DISO_to_DISOmanifestation_ofimg Failure to Thrive C0015544
DISO_to_DISOmanifestation_ofimg Feeding difficulties C0232466
DISO_to_DISOmanifestation_ofimg Frequent respiratory infections C1843426
DISO_to_DISOmanifestation_ofimg Gray, granular-appearing maculae C1850374
DISO_to_DISOmanifestation_ofimg Hepatomegaly C0019209
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
DISO_to_DISOmanifestation_ofimg Jaundice, Neonatal C0022353
DISO_to_DISOmanifestation_ofimg Large vacuolated foam cells ('NP cells') on bone marrow biopsy C1843425
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanSMPD16609sphingomyelin phosphodiesterase 1, acid lysosomal
img OMIM, Score=1000, UMLKSK CUI: C0268242
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268242Niemann-Pick Disease, Type A0self