Pancreatic triacylglycerol lipase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC, INCLUDED
PL DEFICIENCY PANCREATIC COLIPASE DEFICIENCY, INCLUDED
LIPASE AND COLIPASE, DEFICIENCY OF, INCLUDED
COLIPASE, CONGENITAL ABSENCE OF PANCREATIC, INCLUDED
LIPASE, CONGENITAL ABSENCE OF PANCREATIC
PNLIPD
Pancreatic triglyceride lipase deficiency
Number of Symptoms 9
OrphanetNr: 309031
OMIM Id: 614338
ICD-10: K90.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of lipid absorption and transport
 -Rare gastroenterologic disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0002570) Steatorrhea 31 / 7739
2
(OMIM) Normal growth and development 3 / 7739
3
(OMIM) Pancreatic lipase absent or reduced 3 / 7739
4
(OMIM) Greasy/oily stools (steatorrhea) 3 / 7739
5
(OMIM) Pancreatic colipase absent or reduced (in some patients) 3 / 7739
6
(OMIM) Voluminous stools 3 / 7739
7
(OMIM) Decreased absorption of dietary fat 3 / 7739
8
(OMIM) Combined deficiency of pancreatic lipase and colipase (in some patients) 3 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Sheldon (1964) reported 4 children, a brother and sister and 2 brothers, from 2 unrelated nonconsanguineous families, who had congenital pancreatic lipase (246600) deficiency. From early infancy, all 4 were noted to have a greasy quality to their ...