PNLIPD
MCID: PNC048
MIFTS: 29

Pancreatic Lipase Deficiency (PNLIPD)

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

Aliases & Classifications for Pancreatic Lipase Deficiency

MalaCards integrated aliases for Pancreatic Lipase Deficiency:

Name: Pancreatic Lipase Deficiency 57 72 36 29 13 6 70
Pancreatic Triacylglycerol Lipase Deficiency 58 70
Pancreatic Colipase Deficiency 58 70
Pl Deficiency 57 72
Pnlipd 57 72
Combined Pancreatic Lipase-Colipase Deficiency 58
Pancreatic Triglyceride Lipase Deficiency 58
Lipase, Congenital Absence of Pancreatic 57
Congenital Absence of Pancreatic Lipase 72
Lipase Deficiency, Pancreatic 39

Characteristics:

Orphanet epidemiological data:

58
pancreatic colipase deficiency
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
pancreatic lipase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Inborn errors of metabolism


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) (Updated 05-Apr-2021)

MalaCards based summary : Pancreatic Lipase Deficiency, also known as pancreatic triacylglycerol lipase deficiency, is related to diarrhea and exocrine pancreatic insufficiency. An important gene associated with Pancreatic Lipase Deficiency is PNLIP (Pancreatic Lipase), and among its related pathways/superpathways are Vitamin digestion and absorption and Pancreatic secretion. Related phenotypes are exocrine pancreatic insufficiency and chronic diarrhea

KEGG : 36 Congenital pancreatic lipase deficiency is a rare autosomal recessive exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health. It has been reported that PNLIP mutations are causative for the phenotype.

UniProtKB/Swiss-Prot : 72 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 diarrhea 10.0
2 exocrine pancreatic insufficiency 10.0
3 linear iga disease 10.0

Symptoms & Phenotypes for Pancreatic Lipase Deficiency

Human phenotypes related to Pancreatic Lipase Deficiency:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 exocrine pancreatic insufficiency 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0001738
2 chronic diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002028
3 steatorrhea 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0002570
4 megaloblastic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001889
5 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
6 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
7 low levels of vitamin d 58 31 frequent (33%) Frequent (79-30%) HP:0100512
8 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
9 low levels of vitamin e 58 31 frequent (33%) Frequent (79-30%) HP:0100513
10 low levels of vitamin a 58 31 frequent (33%) Frequent (79-30%) HP:0004905
11 abdominal distention 58 31 frequent (33%) Frequent (79-30%) HP:0003270
12 low levels of vitamin k 58 31 frequent (33%) Frequent (79-30%) HP:0011892
13 rickets 58 31 occasional (7.5%) Occasional (29-5%) HP:0002748
14 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
15 growth delay 58 31 occasional (7.5%) Excluded (0%),Occasional (29-5%) HP:0001510
16 cholelithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001081
17 osteomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002749
18 keratoconjunctivitis sicca 58 31 occasional (7.5%) Occasional (29-5%) HP:0001097
19 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
20 iron deficiency anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001891
21 hemeralopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012047
22 hypolipidemia 31 occasional (7.5%) HP:0045014
23 abnormality of the nervous system 58 31 very rare (1%) Very rare (<4-1%) HP:0000707
24 edema 58 31 very rare (1%) Very rare (<4-1%) HP:0000969
25 colitis 58 31 very rare (1%) Very rare (<4-1%) HP:0002583
26 fat malabsorption 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Publications for Pancreatic Lipase Deficiency

Articles related to Pancreatic Lipase Deficiency:

(show all 23)
# Title Authors PMID Year
1
Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency. 61 6 57
24262094 2014
2
Congenital pancreatic lipase deficiency. 57 61
6153713 1980
3
[A new case of congenital pancreatic lipase deficiency with presence of colipase (author's transl)]. 61 57
437399 1979
4
Presence of colipase in a congenital pancreatic lipase deficiency. 57 61
4627134 1972
5
[Chronic diarrhea due to pancreatic lipase deficiency]. 61 57
5366614 1969
6
CONGENITAL PANCREATIC LIPASE DEFICIENCY. 61 57
14169458 1964
7
A novel mutation in PNLIP causes pancreatic triglyceride lipase deficiency through protein misfolding. 6
25862608 2015
8
Isolated lipase and colipase deficiency in two brothers. 57
2265786 1990
9
Isolated congenital lipase-colipase deficiency. 57
6714581 1984
10
Isolated co-lipase deficiency in two brothers. 57
7068048 1982
11
Proceedings: Studies on the mechanism of fat absorption in congenital isolated lipase deficiency. 57
1205319 1975
12
[Chronic steatorrhea in children due to a congenital insufficiency of pancreatic lipase]. 57
5144703 1971
13
Vitamin B 12 malabsorption in chronic pancreatic insufficiency. 57
5547614 1971
14
[Congenital absence of pancreatic lipase]. 57
5902779 1966
15
Yarrowia lipolytica Lipase 2 Is Stable and Highly Active in Test Meals and Increases Fat Absorption in an Animal Model of Pancreatic Exocrine Insufficiency. 61
26327131 2015
16
Suspected isolated pancreatic lipase deficiency in a dog. 61
17939573 2007
17
13C mixed triglyceride breath test: a noninvasive method to assess lipase activity in children. 61
11429520 2001
18
Polymorphisms in PNLIP, encoding pancreatic lipase, and associations with metabolic traits. 61
11393534 2001
19
[Pancreatic lipase deficiency and linear IgA disease in childhood]. 61
8849069 1996
20
[Congenital pancreatic lipase deficiency]. 61
3761614 1986
21
Human gastric lipase. The effect of amphiphiles. 61
3699017 1986
22
[Lipases of the digestive system]. 61
3541090 1986
23
[Isolated pancreatic lipase deficiency in an adult (author's transl)]. 61
527793 1979

Variations for Pancreatic Lipase Deficiency

ClinVar genetic disease variations for Pancreatic Lipase Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PNLIP NM_000936.4(PNLIP):c.662C>T (p.Thr221Met) SNV Pathogenic 427570 rs746000327 GRCh37: 10:118314780-118314780
GRCh38: 10:116555268-116555268
2 PNLIP NM_000936.4(PNLIP):c.1029T>G (p.Tyr343Ter) SNV Pathogenic 1033151 GRCh37: 10:118318764-118318764
GRCh38: 10:116559252-116559252
3 PNLIP NM_000936.4(PNLIP):c.1257G>A (p.Trp419Ter) SNV Likely pathogenic 522506 rs765879360 GRCh37: 10:118321071-118321071
GRCh38: 10:116561559-116561559

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

72
# Symbol AA change Variation ID SNP ID
1 PNLIP p.Thr221Met VAR_078977 rs746000327

Expression for Pancreatic Lipase Deficiency

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

Pathways for Pancreatic Lipase Deficiency

Pathways related to Pancreatic Lipase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Vitamin digestion and absorption hsa04977
2 Pancreatic secretion hsa04972
3 Glycerolipid metabolism hsa00561
4 Fat digestion and absorption hsa04975

GO Terms for Pancreatic Lipase Deficiency

Sources for Pancreatic Lipase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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