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Details
Link-It Detail - Disease - Niemann-Pick Diseases
Debug Stats
  • ### Total Build Time: 178 ms 47.962 KB
  • CONCEPT_NAME gt=14 ms Completed: 14 ms rowSize= 340 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 560 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=14 ms Completed: 14 ms rowSize= 1,004 bytes
  • CONCEPT_CHILDREN gt=11 ms Completed: 11 ms rowSize= 1.425 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=79 ms Completed: 79 ms rowSize= 6.690 KB
  • CONCEPT_RELATIONSHIPS gt=28 ms Completed: 28 ms rowSize= 10.845 KB
  • CONCEPT_GENES gt=25 ms Completed: 25 ms rowSize= 25.776 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Niemann-Pick Diseases C0028064
Definition (1)
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Histiocytosis, Non-Langerhans-Cell C0019624
img Sphingolipidoses C0037899
Children (3)
img Niemann-Pick Disease, Type B C0268243
img Niemann-Pick Disease, Type A C0268242
img Niemann-Pick Disease, Type C C0220756
Ancestral Roots
RootRoot Plus OneDepthParent
img Hemic and Lymphatic Diseases C0018981img Lymphatic Diseases C00242285img Histiocytosis, Non-Langerhans-Cell C0019624
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Sphingolipidoses C0037899
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501237img Sphingolipidoses C0037899
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Sphingolipidoses C0037899
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076828img Sphingolipidoses C0037899
Relationships (25)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 10
diso_​to_​diso : 10
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 16
associated_​with : 2
clinically_​similar : 1
isa : 5
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN94img genetic aspects C0017399
DISO_to_CHEM35img Carrier Protein C0007292
DISO_to_DISO32img Complication Aspects C1171258
DISO_to_CHEM31img Cholesterol C0008377
DISO_to_CHEM27img Cell Surface Glycoprotein C0025248
DISO_to_CHEM23img SPHINGOMYELINASE C0037903
DISO_to_PHEN22img genetic aspects C0017399
DISO_to_ANAT20img Brain C0006104
DISO_to_CHEM17img Glycoproteins C0017968
DISO_to_CHEM16img Proteins C0033684
DISO_to_PHYS16img Mutation C0026882
DISO_to_ANAT15img Neurons C0027882
DISO_to_CHEM11img Cholesterol C0008377
DISO_to_CHEM11img Proteins C0033684
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_CHEM10img SPHINGOMYELINASE C0037903
DISO_to_CHEMassociated_withimg SPHINGOMYELINASE C0037903
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOisaimg NIEMANN PICK DIS ADULT NON NEURONOPATHIC C0268248
DISO_to_DISOisaimg NIEMANN PICK DIS NON NEURONOPATHIC TYPE C0268243
DISO_to_DISOisaimg NIEMANN PICK DIS NOVE SCOTIAN C0268247
DISO_to_DISOisaimg Niemann-Pick Disease, Type A C0268242
DISO_to_DISOisaimg Niemann-Pick Disease, Type C C0220756
DISO_to_DISOused_forimg Niemann-Pick Diseases C0028064
DISO_to_DISOclinically_similarimg SPHINGOMYELIN LIPOIDOSIS C0519079
Genes (18)

Species:
human : 18
SpeciesGeneGeneIdGene NameEvidence
HumanSTARD3NL83930STARD3 N-terminal like
img GENERIF, Score=651, Pubmed Id: 12393907, UMLKSK CUI: C0028064
HumanFTO79068fat mass and obesity associated
img GENERIF, Score=673, Pubmed Id: 19151714, UMLKSK CUI: C0028064
HumanNPC1L129881NPC1-like 1
img GENERIF, Score=717, Pubmed Id: 18641187, UMLKSK CUI: C0028064
HumanNPC210577Niemann-Pick disease, type C2
img GENERIF, Score=911, Pubmed Id: 12125814, UMLKSK CUI: C0028064
HumanRAB9A9367RAB9A, member RAS oncogene family
img GENERIF, Score=660, Pubmed Id: 16644737, UMLKSK CUI: C0028064
HumanRAB7A7879RAB7A, member RAS oncogene family
img GENERIF, Score=694, Pubmed Id: 15681833, UMLKSK CUI: C0028064
HumanVIM7431vimentin
img GENERIF, Score=911, Pubmed Id: 18681838, UMLKSK CUI: C0028064
HumanTLR47099toll-like receptor 4
INFERRED, Score=800, UMLKSK CUI: C0028064
HumanSREBF26721sterol regulatory element binding transcription factor 2
img GENERIF, Score=923, Pubmed Id: 17008555, UMLKSK CUI: C0028064
HumanSMPD16609sphingomyelin phosphodiesterase 1, acid lysosomal
img GENERIF, Score=756, Pubmed Id: 18815062, UMLKSK CUI: C0028064
img GENERIF, Score=701, Pubmed Id: 16010684, UMLKSK CUI: C0028064
img GENERIF, Score=901, Pubmed Id: 15221801, UMLKSK CUI: C0028064
img GENERIF, Score=679, Pubmed Id: 16472269, UMLKSK CUI: C0028064
HumanCCL186362chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
INFERRED, Score=800, UMLKSK CUI: C0028064
HumanRAB4A5867RAB4A, member RAS oncogene family
img GENERIF, Score=694, Pubmed Id: 15292453, UMLKSK CUI: C0028064
HumanNPC14864Niemann-Pick disease, type C1
img GENERIF, Score=660, Pubmed Id: 16644737, UMLKSK CUI: C0028064
img GENERIF, Score=734, Pubmed Id: 18591242, UMLKSK CUI: C0028064
img GENERIF, Score=673, Pubmed Id: 15314240, UMLKSK CUI: C0028064
img GENERIF, Score=719, Pubmed Id: 12401890, UMLKSK CUI: C0028064
img GENERIF, Score=923, Pubmed Id: 12408188, UMLKSK CUI: C0028064
img GENERIF, Score=694, Pubmed Id: 15681833, UMLKSK CUI: C0028064
img GENERIF, Score=911, Pubmed Id: 12125814, UMLKSK CUI: C0028064
img GENERIF, Score=673, Pubmed Id: 15459971, UMLKSK CUI: C0028064
img GENERIF, Score=694, Pubmed Id: 11907140, UMLKSK CUI: C0028064
HumanGBA2629glucosidase, beta, acid
INFERRED, Score=800, UMLKSK CUI: C0028064
HumanCHIT11118chitinase 1 (chitotriosidase)
INFERRED, Score=800, UMLKSK CUI: C0028064
HumanATP7B540ATPase, Cu++ transporting, beta polypeptide
img GENERIF, Score=694, Pubmed Id: 15681833, UMLKSK CUI: C0028064
HumanAPOE348apolipoprotein E
img OMIM, Score=1000, UMLKSK CUI: C0028064
img GENERIF, Score=911, Pubmed Id: 12205649, UMLKSK CUI: C0028064
HumanABCA119ATP-binding cassette, sub-family A (ABC1), member 1
INFERRED, Score=800, UMLKSK CUI: C0028064
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0028064Niemann-Pick Diseases0self