Pancreatic lipase deficiency

Preferred Label : Pancreatic lipase deficiency;

Symbol : PNLIPD;

CISMeF acronym : PNLIPD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lipase, congenital absence of pancreatic; Pl deficiency;

Included titles and symbols : Pancreatic colipase deficiency; Colipase, congenital absence of pancreatic; Lipase and colipase, deficiency of; Lipase and colipase, congenital absence of pancreatic;

Description : Congenital pancreatic lipase deficiency is a rare, monoenzymatic form of exocrine pancreatic failure. All reported patients have presented with similar symptoms and clinical findings, including oily/greasy stools from infancy or early childhood and the absence of discernable pancreatic disease. Failure to thrive has not been observed. Analyses of duodenal contents consistently show a marked decrease of pancreatic lipolytic activity (summary by Figarella et al., 1980).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pancreatic lipase gene (PNLIP, 246600.0001);

Laboratory abnormalities : Low pancreatic lipase levels; Low fecal elastase levels (in some patients); Low or low-normal levels of fat-soluble vitamins; Abnormal pancreolauryl test (in some patients); Hypolipidemia (in some patients);

Prefixed ID : #614338;

Details

Origin ID

614338;

UMLS CUI

C3280527;

Currated CISMeF NLP mapping
- Pancreatic Lipase Deficiency [NCIt concept]
False automatic mappings
- Pancreatic triacylglycerol lipase deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- Pancreatic lipase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Fat malabsorption [HPO term]
- Hypolipidemia [HPO term]
- Steatorrhea [HPO term]
ORDO concept(s)
- Combined pancreatic lipase-colipase deficiency [ORDO Disease]
- Pancreatic colipase deficiency [ORDO Disease]
- Pancreatic triacylglycerol lipase deficiency [ORDO Disease]
See also inter- (CISMeF)
- PNLIP wt Allele [NCIt concept]
- Pancreatic triacylglycerol lipase deficiency [ICD-11 More detail]
- Pancreatic triacylglycerol lipase deficiency [ORDO Disease]
- Pancreatic triacylglycerol lipase deficiency (disorder) [SNOMED CT concept]
- pancreatic triacylglycerol lipase deficiency [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pancreatic Lipase Deficiency [NCIt concept]
Validated automatic mappings to BTNT
- Combined pancreatic lipase-colipase deficiency [ORDO Disease]
- Pancreatic colipase deficiency [ICD-11 More detail]
- Pancreatic colipase deficiency [ORDO Disease]
- Pancreatic colipase deficiency (disorder) [SNOMED CT concept]
- pancreatic colipase deficiency [SNOMED Notion]

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