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Details
Link-It Detail - Disease - Niemann-Pick Disease, Type B
Debug Stats
  • ### Total Build Time: 194 ms 27.234 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 423 bytes
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  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (2)
Niemann-Pick Disease, Type B C0268243
NIEMANN PICK DIS NON NEURONOPATHIC TYPE
Definition (1)
An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE but clinical signs involve only visceral organs (non-neuropathic type).
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 (32)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 2
diso_​to_​diso : 28
diso_​to_​phen : 1


Relationships:
none : 3
associated_​with : 2
entry_​version_​of : 1
manifestation_​of : 23
related_​to : 3
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN11img genetic aspects C0017399
DISO_to_DISO10img Complication Aspects C1171258
DISO_to_CHEM9img SPHINGOMYELINASE 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 Absence of neurologic manifestations C1843419
DISO_to_DISOmanifestation_ofimg Allelic disorder to Niemann-Pick disease type A (257200) C1843431
DISO_to_DISOmanifestation_ofimg Caused by mutations in the acid lysosomal sphingomyelin phosphodiesterase-1 gene (SMPD1, 607608.0002) C1843429
DISO_to_DISOmanifestation_ofimg Cherry-red maculae (less common) C1843421
DISO_to_DISOmanifestation_ofimg Decreased HDL C0151691
DISO_to_DISOmanifestation_ofimg Decreased acid sphingomyelinase activity C1843422
DISO_to_DISOmanifestation_ofimg Decreased platelet count C0392386
DISO_to_DISOmanifestation_ofimg Decreased pulmonary diffusion secondary to alveolar infiltration C1843427
DISO_to_DISOmanifestation_ofimg Diffuse reticular or finely nodular infiltrations C1843428
DISO_to_DISOmanifestation_ofimg Dyspnea C0013404
DISO_to_DISOmanifestation_ofimg Electron microscopy of foam cells shows lamellar inclusions C1843424
DISO_to_DISOmanifestation_ofimg Enlarged Liver C0019209
DISO_to_DISOmanifestation_ofimg Enlarged Spleen C0038002
DISO_to_DISOmanifestation_ofimg Frequent respiratory infections C1843426
DISO_to_DISOmanifestation_ofimg Hypertriglyceridemia result C1522137
DISO_to_DISOmanifestation_ofimg Increased LDL C0549399
DISO_to_DISOmanifestation_ofimg Large vacuolated foam cells ('NP cells') on bone marrow biopsy C1843425
DISO_to_DISOmanifestation_ofimg More common in Ashkenazi Jews C1843430
DISO_to_DISOmanifestation_ofimg Multiple visceral organs (lung, liver, spleen, kidney) contain foamy resident cells and histiocytes C1843423
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanSMPD16609sphingomyelin phosphodiesterase 1, acid lysosomal
img GENERIF, Score=1000, Pubmed Id: 12369017, UMLKSK CUI: C0268243
img GENERIF, Score=780, Pubmed Id: 12556236, UMLKSK CUI: C0268243
HumanCCL186362chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
img GENERIF, Score=1000, Pubmed Id: 15702402, UMLKSK CUI: C0268243
HumanCHIT11118chitinase 1 (chitotriosidase)
img GENERIF, Score=1000, Pubmed Id: 15702402, UMLKSK CUI: C0268243
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268243Niemann-Pick Disease, Type B0self