Niemann-pick disease, type a

Preferred Label : Niemann-pick disease, type a;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sphingomyelin lipidosis; Sphingomyelinase deficiency; Asmd, neurovisceral type; Acid sphingomyelinase deficiency, neurovisceral type;

Included titles and symbols : Niemann-pick disease, intermediate, protracted neurovisceral;

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). Knudson and Kaplan (1962) suggested that 3 types of the disorder can be distinguished: infantile cerebral, juvenile cerebral, and noncerebral. Later, 5 forms of Niemann-Pick disease were distinguished. Four were delineated by Crocker (1961): the classical infantile form (type A), the visceral form (type B), the subacute or juvenile form (type C; 257220), and the Nova Scotian variant (type D; see 257220). The fifth, the adult form (type E; see 607616), was described by Terry et al. (1954) and Lynn and Terry (1964). Schneider et al. (1978) used the designation type F (see 607616) for a form characterized in 2 patients by a thermolabile enzyme. Most patients fall into Crocker's group A, with death before age 3 years. Schuchman (2007) provided a detailed review of Niemann-Pick disease type A, including clinical management.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the acid lysosomal sphingomyelin phosphodiesterase-1 gene (SMPD1, 607608.0001);

Laboratory abnormalities : Decreased acid sphingomyelinase activity (less than 5%); Multiple organs (lung, liver, spleen, kidney, brain) contain foamy resident cells and histiocytes; Electron microscopy of foam cells shows lamellar inclusions;

Prefixed ID : #257200;

Details

Origin ID

257200;

UMLS CUI

C0268242;

Automatic exact mappings (from CISMeF team)
- Niemann-Pick Disease [NCIt concept]
- Niemann-Pick disease [DO Concept]
- Niemann-Pick disease [ICD-11 More detail]
- Niemann-Pick disease [MedDRA Preferred Term]
- Niemann-Pick disease, intermediate, protracted neurovisceral [MeSH Supplementary Concept]
- Niemann-Pick disease, intermediate, protracted neurovisceral [MeSH concept]
- Niemann-Pick disease, type B [MeSH Descriptor]
- Niemann-Pick diseases [MeSH concept]
- Other sphingolipidosis [ICD-10 Sub-category (who)]
- Sphingomyelin lipidosis [MedDRA LLT]
- Sphingomyelin/cholesterol lipidosis (disorder) [SNOMED CT concept]
- niemann-pick diseases [MeSH Descriptor]
- sphingomyelin/cholesterol lipidosis, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Infantile neurovisceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann Pick disease type A [Disease (Nov.)]
- Niemann-Pick Disease, Type A [NCIt concept]
- Niemann-Pick disease type A [DO Concept]
- Niemann-Pick disease type A [ICD-11 More detail]
- Niemann-Pick disease, type A [MeSH Descriptor]
- Niemann-Pick disease, type A [MeSH concept]
- Niemann-Pick disease, type A (disorder) [SNOMED CT concept]
- niemann-pick disease, type a [SNOMED Notion]
DO Cross reference
- Niemann-Pick disease type A [DO Concept]
Genes related to phenotype
- Sphingomyelin phosphodiesterase 1, acid lysosomal [OMIM gene]
HPO term(s)
- Ascites [HPO term]
- Athetosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone-marrow foam cells [HPO term]
- Cherry red spot of the macula [HPO term]
- Constipation [HPO term]
- Delayed CNS myelination [HPO term]
- Developmental regression [HPO term]
- Diffuse reticular or finely nodular infiltrations [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Foam cells with lamellar inclusion bodies [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Large vacuolated foam cells ('NP cells') on bone marrow biopsy [HPO term]
- Lymphadenopathy [HPO term]
- Macrocephaly [HPO term]
- Microcytic anemia [HPO term]
- Muscle weakness [HPO term]
- Neonatal jaundice [HPO term]
- Osteoporosis [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Protuberant abdomen [HPO term]
- Recurrent respiratory infections [HPO term]
- Rigidity [HPO term]
- Sea-blue histiocytosis [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spasticity [HPO term]
- Splenomegaly [HPO term]
- Vomiting [HPO term]
- Xanthomatosis [HPO term]
ORDO concept(s)
- Infantile neurovisceral acid sphingomyelinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile neurovisceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann Pick disease type A [Disease (Nov.)]
- Niemann-Pick Disease, Type A [NCIt concept]
- Niemann-Pick disease type A [DO Concept]
- Niemann-Pick disease type A [ICD-11 More detail]
- Niemann-Pick disease, type A [MeSH Descriptor]
- Niemann-Pick disease, type A [MeSH concept]
- Niemann-Pick disease, type A (disorder) [SNOMED CT concept]
- niemann-pick disease, type a [SNOMED Notion]
Validated automatic mappings to NTBT
- Niemann Pick disease [Disease (Nov.)]

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