Niemann-pick disease, type b

Preferred Label : Niemann-pick disease, type b;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Asmd, visceral type; Acid sphingomyelinase deficiency, visceral type;

Included titles and symbols : Niemann-pick disease, type f; Niemann-pick disease, type e; Niemann-pick disease, intermediate, with visceral involvement and rapid progression;

Description : Niemann-Pick disease types A and B are caused by an inherited deficiency of acid sphingomyelinase activity. The clinical phenotype ranges from a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age (type A) to a later-onset nonneurologic form (type B) that is compatible with survival into adulthood. Since intermediate cases also have been reported, the disease is best regarded a single entity with a clinical spectrum (summary by Schuchman, 2007). Schuchman (2007) provided a detailed review of Niemann-Pick disease type B, including clinical management.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the acid lysosomal sphingomyelin phosphodiesterase-1 gene (SMPD1, 607608.0002);

Laboratory abnormalities : Decreased acid sphingomyelinase activity; Multiple visceral organs (lung, liver, spleen, kidney) contain foamy resident cells and histiocytes; Electron microscopy of foam cells shows lamellar inclusions; Increased LDL cholesterol; Increased triglycerides; Decreased HDL cholesterol;

Prefixed ID : #607616;

Details

Origin ID

607616;

UMLS CUI

C0268243;

Automatic exact mappings (from CISMeF team)
- Chronic neurovisceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann-Pick disease, intermediate, with visceral involvement and rapid progression [MeSH Supplementary Concept]
- Niemann-Pick disease, intermediate, with visceral involvement and rapid progression [MeSH concept]
- Niemann-Pick disease, type F [MeSH concept]
- Niemann-Pick disease, type F [MeSH Supplementary Concept]
- niemann-pick diseases [MeSH Descriptor]
Currated CISMeF NLP mapping
- Chronic visceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann Pick disease type B [Disease (Nov.)]
- Niemann-Pick Disease, Type B [NCIt concept]
- Niemann-Pick disease type B [DO Concept]
- Niemann-Pick disease type B [ICD-11 More detail]
- Niemann-Pick disease, type B [MeSH Descriptor]
- Niemann-Pick disease, type B [MeSH concept]
- Niemann-Pick disease, type B (disorder) [SNOMED CT concept]
- Niemann-Pick disease, type E (disorder) [SNOMED CT concept]
- niemann-pick disease, type b [SNOMED Notion]
- niemann-pick disease, type e [SNOMED Notion]
DO Cross reference
- Niemann-Pick disease type B [DO Concept]
Genes related to phenotype
- Sphingomyelin phosphodiesterase 1, acid lysosomal [OMIM gene]
HPO term(s)
- Abnormal macular morphology [HPO term]
- Abnormal pulmonary interstitial morphology [HPO term]
- Anemia [HPO term]
- Arthralgia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone-marrow foam cells [HPO term]
- Childhood onset [HPO term]
- Decreased DLCO [HPO term]
- Decreased HDL cholesterol concentration [HPO term]
- Diffuse reticular or finely nodular infiltrations [HPO term]
- Dyspnea [HPO term]
- Foam cells with lamellar inclusion bodies [HPO term]
- Hepatomegaly [HPO term]
- Hypertriglyceridemia [HPO term]
- Increased LDL cholesterol concentration [HPO term]
- Juvenile onset [HPO term]
- Large vacuolated foam cells ('NP cells') on bone marrow biopsy [HPO term]
- Mental deterioration [HPO term]
- Middle age onset [HPO term]
- Recurrent respiratory infections [HPO term]
- Sea-blue histiocytosis [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Chronic visceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann-Pick disease type E [ORDO Disease]
See also inter- (CISMeF)
- Niemann-Pick disease type E [ORDO Disease]
- Niemann-Pick disease, type E [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chronic visceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann Pick disease type B [Disease (Nov.)]
- Niemann-Pick Disease, Type B [NCIt concept]
- Niemann-Pick disease type B [DO Concept]
- Niemann-Pick disease type B [ICD-11 More detail]
- Niemann-Pick disease, type B [MeSH Descriptor]
- Niemann-Pick disease, type B [MeSH concept]
- Niemann-Pick disease, type B (disorder) [SNOMED CT concept]
- niemann-pick disease, type b [SNOMED Notion]
Validated automatic mappings to NTBT
- Niemann Pick disease type E [Disease (Nov.)]

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