MCID: PNC048
MIFTS: 26

Pancreatic Lipase Deficiency

Categories: Genetic diseases, Gastrointestinal diseases, Metabolic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Pancreatic Lipase Deficiency

MalaCards integrated aliases for Pancreatic Lipase Deficiency:

Name: Pancreatic Lipase Deficiency 57 75 29 13 6 73
Pancreatic Triacylglycerol Lipase Deficiency 59 73
Pancreatic Colipase Deficiency 59 73
Pl Deficiency 57 75
Pnlipd 57 75
Combined Pancreatic Lipase-Colipase Deficiency 59
Pancreatic Triglyceride Lipase Deficiency 59
Lipase, Congenital Absence of Pancreatic 57
Congenital Absence of Pancreatic Lipase 75
Lipase Deficiency, Pancreatic 40
Colipase, Pancreatic 13
Pancreatic Lipase 13

Characteristics:

Orphanet epidemiological data:

59
pancreatic colipase deficiency
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
despite voluminous steatorrhea, patients' growth and overall state of health is good


HPO:

32
pancreatic lipase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614338
ICD10 via Orphanet 34 K90.3
UMLS via Orphanet 74 C0268240 C0268241
MedGen 42 C3280527
MeSH 44 D008052

Summaries for Pancreatic Lipase Deficiency

OMIM : 57 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 discernible 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). (614338)

MalaCards based summary : Pancreatic Lipase Deficiency, also known as pancreatic triacylglycerol lipase deficiency, is related to pancreatic ductal adenocarcinoma and pancreatitis. An important gene associated with Pancreatic Lipase Deficiency is PNLIP (Pancreatic Lipase). Affiliated tissues include testes, and related phenotypes are cholelithiasis and exocrine pancreatic insufficiency

UniProtKB/Swiss-Prot : 75 Pancreatic lipase deficiency: An autosomal recessive disorder characterized by exocrine pancreatic failure. Clinical findings include oily/greasy stools from infancy or early childhood, absence of discernible pancreatic disease, and significantly decreased pancreatic lipolytic activity.

Related Diseases for Pancreatic Lipase Deficiency

Diseases related to Pancreatic Lipase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pancreatic ductal adenocarcinoma 10.3
2 pancreatitis 10.1

Symptoms & Phenotypes for Pancreatic Lipase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Growth:
normal growth and development

Abdomen Gastrointestinal:
decreased absorption of dietary fat
greasy/oily stools (steatorrhea)
voluminous stools

Abdomen Pancreas:
pancreatic lipase absent or reduced
pancreatic colipase absent or reduced (in some patients)
combined deficiency of pancreatic lipase and colipase (in some patients)

Laboratory Abnormalities:
low pancreatic lipase levels
low or low-normal levels of fat-soluble vitamins
low fecal elastase levels (in some patients)
abnormal pancreolauryl test (in some patients)
hypolipidemia (in some patients)


Clinical features from OMIM:

614338

Human phenotypes related to Pancreatic Lipase Deficiency:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cholelithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001081
2 exocrine pancreatic insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0001738
3 chronic diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002028
4 steatorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002570
5 megaloblastic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001889
6 growth delay 59 Excluded (0%)
7 fat malabsorption 59 Very frequent (99-80%)
8 hypolipidemia 32 occasional (7.5%) HP:0045014

Drugs & Therapeutics for Pancreatic Lipase Deficiency

Search Clinical Trials , NIH Clinical Center for Pancreatic Lipase Deficiency

Genetic Tests for Pancreatic Lipase Deficiency

Genetic tests related to Pancreatic Lipase Deficiency:

# Genetic test Affiliating Genes
1 Pancreatic Lipase Deficiency 29 PNLIP

Anatomical Context for Pancreatic Lipase Deficiency

MalaCards organs/tissues related to Pancreatic Lipase Deficiency:

41
Testes

Publications for Pancreatic Lipase Deficiency

Articles related to Pancreatic Lipase Deficiency:

# Title Authors Year
1
Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency. ( 24262094 )
2014
2
Suspected isolated pancreatic lipase deficiency in a dog. ( 17939573 )
2007
3
Congenital pancreatic lipase deficiency. ( 6153713 )
1980
4
Presence of colipase in a congenital pancreatic lipase deficiency. ( 4627134 )
1972
5
CONGENITAL PANCREATIC LIPASE DEFICIENCY. ( 14169458 )
1964

Variations for Pancreatic Lipase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Pancreatic Lipase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 PNLIP p.Thr221Met VAR_078977 rs746000327

ClinVar genetic disease variations for Pancreatic Lipase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PNLIP NM_000936.3(PNLIP): c.662C> T (p.Thr221Met) single nucleotide variant Pathogenic rs746000327 GRCh37 Chromosome 10, 118314780: 118314780
2 PNLIP NM_000936.3(PNLIP): c.662C> T (p.Thr221Met) single nucleotide variant Pathogenic rs746000327 GRCh38 Chromosome 10, 116555268: 116555268
3 PNLIP NM_000936.3(PNLIP): c.1257G> A (p.Trp419Ter) single nucleotide variant Likely pathogenic rs765879360 GRCh37 Chromosome 10, 118321071: 118321071
4 PNLIP NM_000936.3(PNLIP): c.1257G> A (p.Trp419Ter) single nucleotide variant Likely pathogenic rs765879360 GRCh38 Chromosome 10, 116561559: 116561559

Expression for Pancreatic Lipase Deficiency

Search GEO for disease gene expression data for Pancreatic Lipase Deficiency.

Pathways for Pancreatic Lipase Deficiency

GO Terms for Pancreatic Lipase Deficiency

Sources for Pancreatic Lipase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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