MCID: LPS020
MIFTS: 28

Lipase Deficiency, Combined malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Lipase Deficiency, Combined

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Aliases & Descriptions for Lipase Deficiency, Combined:

Name: Lipase Deficiency, Combined 49 11 47
Lipase Deficiency Combined 45 22 65
Lipoprotein Lipase Deficiency with Hepatic Triglyceride Lipase Deficiency 45 22
Combined Lipase Deficiency 67
 
Lpl and Htgl Deficiency 45
Lpl and Hl Deficiency 45
Cld 67


Classifications:



External Ids:

OMIM49 246650
MedGen34 C1855498

Summaries for Lipase Deficiency, Combined

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UniProtKB/Swiss-Prot:67 Combined lipase deficiency: Characterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL).

MalaCards based summary: Lipase Deficiency, Combined, also known as lipase deficiency combined, is related to hypertriglyceridemia and hepatitis, and has symptoms including autosomal recessive inheritanceand abnormality of metabolism/homeostasis. An important gene associated with Lipase Deficiency, Combined is LMF1 (Lipase Maturation Factor 1), and among its related pathways are triacylglycerol biosynthesis and Statin Pathway.

Description from OMIM:49 246650

Related Diseases for Lipase Deficiency, Combined

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

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1hypertriglyceridemia29.9LIPC, LPL
2hepatitis10.3
3congenital chloride diarrhea10.3
4child syndrome10.1
5adult respiratory distress syndrome10.1
6bronchopulmonary dysplasia10.1
7newborn respiratory distress syndrome10.1
8cork-handlers' disease10.1
9autonomic nervous system disease10.1
10diarrhea10.1
11non-suppurative otitis media10.1
12peripheral nervous system disease10.1
13respiratory system disease10.1
14acute respiratory distress syndrome10.1
15kid syndrome10.1
16respiratory distress syndrome, infant10.1
17infant acute respiratory distress syndrome10.1
18asthma10.0
19c syndrome10.0
20adult syndrome10.0
21short syndrome10.0
22glucocorticoid therapy, response to10.0
23asthma 210.0
24williams-beuren syndrome10.0
25diarrhea 1, secretory chloride, congenital10.0
26leukemia, chronic lymphocytic 110.0
27mucolipidosis ii alpha/beta10.0
28leukemia, chronic lymphocytic 210.0
29glucocorticoid deficiency 210.0
30west syndrome10.0
31adult t-cell leukemia10.0
32chronic lymphocytic leukemia10.0
33leukemia10.0
34liver disease10.0
35lymphoid leukemia10.0
36gamma chain deficiency10.0
37chronic leukemia10.0
38edwards syndrome10.0
39neonatal respiratory failure10.0
40ventilation pneumonitis10.0
41pulmonary valve insufficiency10.0
42amyloidosis10.0
43hypersensitivity reaction type iv disease10.0
44lymphatic system cancer10.0
45lymphatic system disease10.0
46lymphoblastic leukemia10.0
47pneumonia10.0
48prolymphocytic leukemia10.0
49respiratory failure10.0
50t-cell leukemia10.0

Graphical network of the top 20 diseases related to Lipase Deficiency, Combined:



Diseases related to lipase deficiency, combined

Symptoms for Lipase Deficiency, Combined

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Symptoms by clinical synopsis from OMIM:

246650

Clinical features from OMIM:

246650

HPO human phenotypes related to Lipase Deficiency, Combined:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 abnormality of metabolism/homeostasis HP:0001939

Drugs & Therapeutics for Lipase Deficiency, Combined

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Drugs for Lipase Deficiency, Combined (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Tenofovirapproved, investigationalPhase 3636147127-20-6464205
Synonyms:
(R)-9-(2-Phosphonomethoxypropyl)adenine
(R)-9-(2-Phosphonylmethoxypropyl)adenine
(R)-PMPA
147127-20-6
206184-49-8
AC-760
AC1LA9BO
Anh. tenofovir
Anhydrous tenofovir
Apropovir
CHEBI:45809
CHEMBL483
CID464205
D,L-Tenofovir
DB00300
GNA & Tenofovir
GS 1275
GS 1278
GS1278
HHA & Tenofovir
 
KS-5021
MolPort-003-850-411
NCGC00167535-01
PMPA
PMPA-(R)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Galanthus nivalis agglutinin (GNA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Hippeastrum hybrid agglutinin( HHA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- (9CI)
Phosphonic acid, [[2-(6-amino-9H-purin-9
S1401_Selleck
TDF
TFV
Tenefovir
Tenofovir
Tenofovir (anh.)
Tenofovir Disoproxil Fumarate
Tenofovir disoproxil
Tenofovir disoproxil fumarate
UNII-99YXE507IL
Viread
Viread, Tenofovir
[(2R)-1-(6-aminopurin-9-yl)propan-2-yl]oxymethylphosphonic acid
2
Emtricitabineapproved, investigationalPhase 3381143491-57-060877
Synonyms:
(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-(2R,5S)-5-fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-.beta.-L-FTC
(-)-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-2'-Deoxy-5-fluoro-3'-thiacytidine
(-)-FTC
(-)-beta-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-beta-2',3'-dideoxy-5-fluoro-3'-thiacytidine
(-)-cis-4-amino-5-Fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(-)-cis-4-amino-5-fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(2R-cis)-4-Amino-5-fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
(2R-cis)-4-amino-5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
.beta.-L-(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
1-(2-(Hydroxymethyl)oxathiolan-5-yl)-5-fluorocytosine
143491-54-7
143491-57-0
145213-48-5
2',3',5-FTC
2',3'-Dideoxy-5-fluoro-3'-thiacytidine
2'-Deoxy-5-fluoro-3'-oxa-4'-thiocytidine
2'-Deoxy-5-fluoro-3'-thiacytidine
2-FTC
3'-Thia-2'.3'-dideoxy-5-fluorocytidine
4-Amino-5-fluoro-1-((2R,5S)-2-hydroxymethyl-[1,3]oxathiolan-5-yl)-1H-pyrimidin-2-one
4-Amino-5-fluoro-1-[(2R,5S)-(hydroxymethyl)-1,3-oxathiolan-5-yl]-2(1H)-pyrimidinone
4-amino-5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one
5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)[1,3]oxathiolan-5-yl]cytosine
524W91
AC1L1U3I
AC1Q4KUB
BW 1592
 
BW 524W91
BW-524W91
BW524W91
C122114
C12599
C8H10FN3O3S
CHEBI:31536
CHEMBL885
CID60877
Coviracil
Coviracil(TM)
D01199
DB00879
DRG-0208
Emtricitabin
Emtricitabina
Emtricitabine
Emtricitabine (JAN/USAN/INN)
Emtricitabinum
Emtriva
Emtriva (TN)
Emtriva(TM)
FT-0080009
HMS2089I05
HSDB 7337
LS-135838
LS-173184
NCGC00164564-01
RCV
Racivir
SBB066061
TL8000958
UNII-G70B4ETF4S
ZINC03629271
beta-L-2',3'-dideoxy-5-fluoro-3'-thiacytidine
dOTFC
emtricitabine
3
Ritonavirapproved, investigationalPhase 3833155213-67-5392622
Synonyms:
1,3-thiazol-5-ylmethyl N-[(2S,3S,5S)-3-hydroxy-5-[[(2S)-3-methyl-2-[[methyl-[(2-propan-2-yl-1,3-thiazol-4-yl)methyl]carbamoyl]amino]butanoyl]amino]-1,6-diphenylhexan-2-yl]carbamate
155213-67-5
1hxw
1sh9
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S)-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
538, ABT
A-84538
ABBOTT-84538
ABT 538
ABT 84538
ABT-538
ABT538
AC-733
AC1L94GB
AKOS000280930
Abbott 84538
BIDD:GT0387
BIDD:PXR0023
Bio-0093
C07240
C37H48N6O5S2
CHEBI:45409
CHEMBL163
CID392622
CPD000466395
D00427
D019438
 
DB00503
DRG-0244
FT-0082824
HMS2051B08
HSDB 7160
LS-148860
MLS000759541
MLS001424063
MolPort-000-883-877
N-[(2S,4S,5S)-4-hydroxy-1,6-diphenyl-5-{[(1,3-thiazol-5-ylmethoxy)carbonyl]amino}hexan-2-yl]-N~2~-(methyl{[2-(propan-2-yl)-1,3-thiazol-4-yl]methyl}carbamoyl)-L-valinamide
NCGC00159462-02
NSC693184
Norvir
Norvir (TM)
Norvir (TN)
Norvir Sec
RIT
RTV
Ritonavir
Ritonavir (JAN/USAN/INN)
Ritonavir [USAN]
Ritonavir is an inhibitor of HIV protease used to treat HIV infection and AIDS.
Ritonavirum
S1185_Selleck
SAM001246783
SMR000466395
STK634209
ZINC03944422
ritonavir
4
LopinavirapprovedPhase 3338192725-17-092727
Synonyms:
(1S-(1R*(R*),3R*,4R*))-N-(4-(((2,6-Dimethylphenoxy)acetyl)amino)-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl)tetrahydro-alpha-(1-methylethyl)-2-oxo-1(2H)-pyrimidineacetamide
(2S)-N-[(2S,4S,5S)-5-[[2-(2,6-dimethylphenoxy)acetyl]amino]-4-hydroxy-1,6-diphenylhexan-2-yl]-3-methyl-2-(2-oxo-1,3-diazinan-1-yl)butanamide
(alphaS)-Tetrahydro-N-((alphaS)-alpha-((2S,3S)-2-hydroxy-4-phenyl-3-(2-(2,6-xylyloxy)acetamido)butyl)phenethyl)-alpha-isopropyl-2-oxo-1(2H)-pyrimidineacetamide
1(2H)-Pyrimidineacetamide, N-[(1S,3S,4S)-4-[[(2,6-dimethylphenoxy)acetyl]amino]-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl]tetrahydro-alpha-(1-methylethyl)-2-oxo-, (alphaS)- (9CI)
192725-17-0
1mui
2o4s
2q5k
2rkf
2rkg
A 157378
A 157378.0
A-157378-0
A-157378.0
AB1
ABT 157378
ABT 378
ABT-378
ABT-378, LOPINAVIR
AC1L3OPJ
AIDS032937
Aluviran
C12871
C37H48N4O5
 
CHEBI:40456
CHEMBL729
CID92727
D01425
DB01601
Kaletra
Koletra
LPV
LS-173766
Lopinavir
Lopinavir (JAN/USAN/INN)
Lopinavir [USAN:INN:BAN]
MolPort-003-848-410
N-(4-(((2,6-dimethylphenoxy)acetyl)amino)-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl)tetrahydro-alpha-(1-methylethyl)-2-oxo-1(2H)-pydrimidineacetamide
N-{1-BENZYL-4-[2-(2,6-DIMETHYL-PHENOXY)-ACETYLAMINO]-3-HYDROXY-5-PHENYL-PENTYL}-3-METHYL-2-(2-OXO-TETRAHYDRO-PYRIMIDIN-1-YL)-BUTYRAMIDE
NCGC00164576-01
NCGC00164576-02
RS-346
S1380_Selleck
SID124893167
SID144205757
SID50111692
UNII-2494G1JF75
a-157378-0
a-157378.0
5
Tenofovir disoproxilPhase 3636201341-05-15481350
Synonyms:
201341-05-1
9-((R)-2-((Bis(((isopropoxycarbonyl)oxy)methoxy)phosphinyl)methoxy)propyl)adenine
9-[(R)-2-[[Bis[[(isopropoxycarbonyl)oxy] methoxy]phosphinyl]methoxy]propyl]adenine
AC1NUKHG
Bis(POC)PMPA
Bis(isopropyloxymethylcarbonyl) 9-(2-phosphonomethoxypropyl)adenine
Bis(isopropyloxymethylcarbonyl)PMPA
CHEMBL1538
 
CID5481350
GS 4331-05 (*1:1 Fumarate salt*)
LS-187012
LS-187786
PMPA prodrug
ST51052782
TDF
Tenofovir disoproxil
Viread(TM) (*1:1 Fumarate salt*)
[[(2R)-1-(6-aminopurin-9-yl)propan-2-yl]oxymethyl-(propan-2-yloxycarbonyloxymethoxy)phosphoryl]oxymethyl propan-2-yl carbonate

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study Comparing Lopinavir/Ritonavir (LPV/r) + Emtricitabine/Tenofovir Disoproxil Fumarate (FTC/TDF) With a Nucleoside Sparing Regimen Consisting of Lopinavir/Ritonavir + Raltegravir (RAL)CompletedNCT00711009Phase 3

Search NIH Clinical Center for Lipase Deficiency, Combined

Genetic Tests for Lipase Deficiency, Combined

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Genetic tests related to Lipase Deficiency, Combined:

id Genetic test Affiliating Genes
1 Lipase Deficiency, Combined22 LMF1

Anatomical Context for Lipase Deficiency, Combined

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Animal Models for Lipase Deficiency, Combined or affiliated genes

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MGI Mouse Phenotypes related to Lipase Deficiency, Combined:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Lipase Deficiency, Combined

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Variations for Lipase Deficiency, Combined

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Clinvar genetic disease variations for Lipase Deficiency, Combined:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LMF1NM_022773.2(LMF1): c.1391G> A (p.Trp464Ter)single nucleotide variantPathogenicrs587777626GRCh38Chr 16, 869908: 869908
2LMF1NM_022773.2(LMF1): c.1317C> G (p.Tyr439Ter)single nucleotide variantPathogenicrs121909397GRCh37Chr 16, 919982: 919982

Expression for genes affiliated with Lipase Deficiency, Combined

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Search GEO for disease gene expression data for Lipase Deficiency, Combined.

Pathways for genes affiliated with Lipase Deficiency, Combined

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GO Terms for genes affiliated with Lipase Deficiency, Combined

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Biological processes related to Lipase Deficiency, Combined according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1very-low-density lipoprotein particle remodelingGO:00343729.8LIPC, LPL
2triglyceride homeostasisGO:00703289.7LIPC, LPL
3fatty acid biosynthetic processGO:00066339.6LIPC, LPL
4chylomicron remnant clearanceGO:00343829.6LIPC, LMF1
5triglyceride catabolic processGO:00194339.6LIPC, LPL
6lipid digestionGO:00442419.5LIPC, LMF1
7lipid metabolic processGO:00066299.4LIPC, LPL
8small molecule metabolic processGO:00442818.5LIPC, LMF1, LPL

Molecular functions related to Lipase Deficiency, Combined according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phospholipase activityGO:00046209.5LIPC, LPL
2apolipoprotein bindingGO:00341859.5LIPC, LPL
3triglyceride lipase activityGO:00048069.3LIPC, LPL
4carboxylic ester hydrolase activityGO:00526899.3LIPC, LPL
5heparin bindingGO:00082019.1LIPC, LPL

Sources for Lipase Deficiency, Combined

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet