LPI
MCID: LYS003
MIFTS: 64

Lysinuric Protein Intolerance (LPI) malady

Genetic diseases, Rare diseases categories

Summaries for Lysinuric Protein Intolerance

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Lysinuric protein intolerance is a metabolic disorder caused by the body's inability to digest and use the amino acids lysine, arginine, and ornithine. because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting protein. other features associated with protein intolerance may also occur, including short stature, muscle weakness, impaired immune function, and osteoporosis. a lung disorder called pulmonary alveolar proteinosis may develop in some individuals, as can end-stage renal disease, coma and intellectual disability. symptoms usually develop after infants are weaned and begin to eat solid foods. lysinuric protein intolerance is caused by mutations in the slc7a7 gene. it is inherited in an autosomal recessive manner. last updated: 11/15/2010

MalaCards: Lysinuric Protein Intolerance, also known as LPI, is related to pulmonary alveolar proteinosis and urea cycle disorder. An important gene associated with Lysinuric Protein Intolerance is SLC7A7 (solute carrier family 7 (amino acid transporter light chain, y+L system), member 7), and among its related pathways are Alanine and aspartate metabolism and Alanine, aspartate and glutamate metabolism. The compounds Canavaninosuccinate and argininosuccinic acid have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and bone marrow, and related mouse phenotypes are integument and immune system.

Wikipedia:66 Lysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria type 2,cationic... more...

Description from OMIM:48 222700

GeneReviews summary for lpi

Aliases & Classifications for Lysinuric Protein Intolerance

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Characteristics (Orphanet epidemiological data):

50
lysinuric protein intolerance:
Age of onset: Neonatal/infancy


Aliases & Descriptions:

lysinuric protein intolerance 20 44 21 23 22 48 46 50 63
lpi 44 22 50
lpi - lysinuric protein intolerance 22
hyperdibasic aminoaciduria type 2 50
hyperdibasic aminoaciduria 22
dibasicamino aciduria ii 44
cationic aminoaciduria 20
congenital lysinuria 22


External Ids:

OMIM48 222700
ICD10 via Orphanet27 E72.0
SNOMED-CT via Orphanet60 303852004
UMLS via Orphanet64 C0268647

Related Diseases for Lysinuric Protein Intolerance

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18GeneCards, 19GeneDecks
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Diseases related to Lysinuric Protein Intolerance via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary alveolar proteinosis30.9SLC7A7, SFTPD
2urea cycle disorder30.6ASS1, ASL
3orotic aciduria30.5OTC, ASS1, ASL
4cystinuria30.5SLC3A1, OTC, SLC3A2, SLC7A7
5osteoporosis10.6
6systemic lupus erythematosus10.5
7lupus erythematosus10.5
8hyperdibasic aminoaciduria type 110.5
9hemophagocytic lymphohistiocytosis10.4
10interstitial lung disease10.4
11gyrate atrophy10.3
12fanconi syndrome10.3
13celiac disease10.3
14glomerulonephritis10.3
15hepatitis10.3
16dibasic aminoaciduria 210.3
17growth hormone deficiency10.3
18endotheliitis10.3
19reye syndrome10.1OTC
20pyruvate kinase deficiency10.1G6PD
21argininosuccinic aciduria10.1ASL, OTC
22carbamoyl phosphate synthetase i deficiency disease10.1ASS1, OTC
23propionic acidemia10.1ASS1, OTC
24wilson disease10.1OTC, G6PD
25ornithine carbamoyltransferase deficiency10.1OTC, ASL, ASS1
26hyperargininemia10.1ASS1, ASL, OTC
27citrullinemia10.1ASS1, OTC, ASL
28chronic granulomatous disease10.1G6PD, OTC
29homocystinuria10.1G6PD, OTC
30microcytic anemia10.1EPO, G6PD
31hemoglobinopathy10.0G6PD, EPO
32iron deficiency anemia10.0EPO, G6PD
33beta thalassemia10.0EPO, G6PD
34hemorrhagic thrombocythemia10.0G6PD, EPO
35phenylketonuria10.0G6PD, OTC, SLC7A5
36polycythemia10.0G6PD, EPO
37hyperammonemia multi-gene panels10.0ASS1, OTC, ASL, SLC7A7
38iron metabolism disease10.0G6PD, EPO
39alpha thalassemia10.0EPO, G6PD
40hemolytic anemia10.0G6PD, EPO
41galactosemia10.0ASS1, G6PD, ASL
42respiratory failure10.0G6PD, SFTPD
43chronic myeloid leukemia10.0ASS1, G6PD, EPO
44metabolic syndrome x10.0SLC3A1, G6PD, ASS1, OTC
45polycythemia vera10.0G6PD, EPO
46sickle cell disease10.0G6PD, EPO

Graphical network of the top 20 diseases related to Lysinuric Protein Intolerance:



Diseases related to lysinuric protein intolerance

Symptoms for Lysinuric Protein Intolerance

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48OMIM
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Symptoms by clinical synopsis from OMIM:

222700

Clinical features from OMIM:

222700

Drugs & Therapeutics for Lysinuric Protein Intolerance

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Lysinuric Protein Intolerance

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Genetic Tests for Lysinuric Protein Intolerance

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21GeneTests, 23GTR
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Genetic tests related to Lysinuric Protein Intolerance:

id Genetic test Affiliating Genes
1 Lysinuric Protein Intolerance21 23 SLC7A7

Anatomical Context for Lysinuric Protein Intolerance

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34MalaCards
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MalaCards organs/tissues related to Lysinuric Protein Intolerance:

34
Lung, Kidney, Bone marrow, Bone, T cells, Liver, Monocytes, Myeloid, Skin, Breast, Heart, Endothelial

Animal Models for Lysinuric Protein Intolerance or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Lysinuric Protein Intolerance:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.0OTC, SLC7A7, ASL, ASS1, EPO
2MP:00053877.8SFTPD, ASS1, ASL, SLC7A7, SLC3A2, SLC7A2
3MP:00053787.7SFTPD, G6PD, ASS1, ASL, SLC7A7, SLC3A2
4MP:00053977.6SFTPD, G6PD, EPO, ASL, SLC7A7, SLC3A2
5MP:00053767.5OTC, SFTPD, G6PD, EPO, ASS1, ASL
6MP:00107687.4SFTPD, G6PD, EPO, ASS1, ASL, SLC7A5

Publications for Lysinuric Protein Intolerance

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53PubMed
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Articles related to Lysinuric Protein Intolerance:

(show top 50)    (show all 133)
idTitleAuthorsYear
1
Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance. (23358709)
2013
2
Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance. (23430827)
2011
3
Lysinuric protein intolerance: reviewing concepts on a multisystem disease. (21308987)
2011
4
In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages. (21110863)
2010
5
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. (18716612)
2009
6
SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance. (20030831)
2009
7
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. (18846670)
2008
8
Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance. (17517249)
2007
9
Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7. (17196863)
2007
10
Lysinuric protein intolerance: one gene, many problems. (17475666)
2007
11
Haemophagocytosis by myeloid precursors in lysinuric protein intolerance. (17474972)
2007
12
Nutrient intake in lysinuric protein intolerance. (17588131)
2007
13
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. (17376816)
2007
14
Hazards associated with pregnancies and deliveries in lysinuric protein intolerance. (16423630)
2006
15
Growth hormone deficiency in a patient with lysinuric protein intolerance. (16775724)
2006
16
Recurrent stupor due to lysinuric protein intolerance. (16230804)
2005
17
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. (15289783)
2004
18
A historical aspect of lysinuric protein intolerance in a northern part of Iwate, Japan. (12713148)
2003
19
Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance. (12870174)
2003
20
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. (10737982)
2000
21
A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect. The Mass Screening Group. (10980538)
2000
22
Effect of lysine infusion on urea cycle in lysinuric protein intolerance. (10831173)
2000
23
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. (10080183)
1999
24
Reduced nitric oxide production by L-arginine deficiency in lysinuric protein intolerance exacerbates intravascular coagulation. (10484053)
1999
25
Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11. (10364825)
1999
26
Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance. (9931537)
1999
27
Lysinuric protein intolerance and systemic lupus erythematosus. (9504787)
1998
28
Lysinuric protein intolerance masquerading as celiac disease: a case report. (9470018)
1998
29
Complications of lysinuric protein intolerance must be treated with immunosuppressive drugs. (9762605)
1998
30
Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. (9829974)
1998
31
Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. (9199570)
1997
32
Sudden infant death and lysinuric protein intolerance. (8929742)
1996
33
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods. (8564125)
1996
34
Immunological abnormality in patients with lysinuric protein intolerance. (8747863)
1995
35
Lysinuric protein intolerance in pregnancy: case report with successful outcome. (7726656)
1995
36
Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of four pediatric patients. (8163273)
1994
37
Lysinuric Protein Intolerance (20301535)
1993
38
A difficult diagnosis of lysinuric protein intolerance: association with glucose-6-phosphate dehydrogenase deficiency. (1779632)
1991
39
Carnitine deficiency in lysinuric protein intolerance: lysine-sparing effect of carnitine. (3126568)
1987
40
Lysinuric protein intolerance mutation is expressed in the plasma membrane of cultured skin fibroblasts. (3478720)
1987
41
Lysinuric protein intolerance: a rare cause of childhood osteoporosis. (3083306)
1986
42
Growth hormone studies in lysinuric protein intolerance. (6428892)
1984
43
Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates. (7254935)
1981
44
Ferritinemia with subnormal iron stores in lysinuric protein intolerance. (6780751)
1981
45
Lysinuric protein intolerance. Basolateral transport defect in renal tubuli. (7204568)
1981
46
Changes in peripheral blood cells and serum ferritin in lysinuric protein intolerance. (6782826)
1980
47
Lysinuric protein intolerance. (6107616)
1980
48
Lysinuric protein intolerance. (869490)
1977
49
Renal handling of diamino acids in lysinuric protein intolerance. (4600043)
1974
50
Leukocyte and liver glutaminase in lysinuric protein intolerance. (4648974)
1972

Variations for Lysinuric Protein Intolerance

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Lysinuric Protein Intolerance:

65 (show all 18)
id Symbol AA change Variation ID SNP ID
1SLC7A7p.Gly54ValVAR_010261
2SLC7A7p.Leu334ArgVAR_010262
3SLC7A7p.Gly338AspVAR_010999
4SLC7A7p.Ser386ArgVAR_011000
5SLC7A7p.Met50LysVAR_030595
6SLC7A7p.Thr188IleVAR_030596
7SLC7A7p.Ser238PheVAR_030597
8SLC7A7p.Arg333MetVAR_030598
9SLC7A7p.Ser489ProVAR_030599
10SLC7A7p.Thr5IleVAR_039092
11SLC7A7p.Ser53LeuVAR_039094
12SLC7A7p.Leu124ProVAR_039096
13SLC7A7p.Ala140ProVAR_039097
14SLC7A7p.Phe152LeuVAR_039098
15SLC7A7p.Lys191GluVAR_039100
16SLC7A7p.Glu251AspVAR_039101
17SLC7A7p.Leu261ProVAR_039102
18SLC7A7p.Asn365TyrVAR_039103

Clinvar genetic disease variations for Lysinuric Protein Intolerance:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1SLC7A7SLC7A7, IVS6AS, A-T, -2single nucleotide variantPathogenic
2SLC7A7SLC7A7, 455-BP DEL, NT197deletionPathogenic
3SLC7A7SLC7A7, 4-BP INS, 1384ATCAinsertionPathogenic
4SLC7A7NM_001126105.2(SLC7A7): c.1A> C (p.Met1Leu)single nucleotide variantPathogenicrs121908676GRCh37Chr 14, 23282607: 23282607
5SLC7A7NM_001126105.2(SLC7A7): c.1001T> G (p.Leu334Arg)single nucleotide variantPathogenicrs72552272GRCh37Chr 14, 23244747: 23244747
6SLC7A7SLC7A7, 4-BP DEL, 1005CTTTdeletionPathogenic
7SLC7A7NM_001126105.2(SLC7A7): c.161G> T (p.Gly54Val)single nucleotide variantPathogenicrs121908677GRCh37Chr 14, 23282447: 23282447
8SLC7A7NM_001126105.2(SLC7A7): c.1228C> T (p.Arg410Ter)single nucleotide variantPathogenicrs121908678GRCh37Chr 14, 23243580: 23243580
9SLC7A7SLC7A7, IVS4DS, G-A, +1single nucleotide variantPathogenic
10SLC7A7NM_001126105.2(SLC7A7): c.726G> A (p.Trp242Ter)single nucleotide variantPathogenicrs121908679GRCh37Chr 14, 23248046: 23248046
11SLC7A7SLC7A7, EX6-11, DELdeletionPathogenic

Expression for genes affiliated with Lysinuric Protein Intolerance

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lysinuric Protein Intolerance

Search GEO for disease gene expression data for Lysinuric Protein Intolerance.

Pathways for genes affiliated with Lysinuric Protein Intolerance

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Sources:
51PathCards, 39NCBI BioSystems Database, 31KEGG, 56Reactome, 52PharmGKB, 13EMD Millipore, 5Cell Signaling Technology
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Pathways related to Lysinuric Protein Intolerance according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0ASS1, ASL
210.0ASL, ASS1
3
Show member pathways
citrulline-nitric oxide cycle39
arginine degradation I (arginase pathway)39
proline degradation39
glutamine degradation I39
proline biosynthesis I39
superpathway of citrulline metabolism39
proline biosynthesis II (from arginine)39
citrulline biosynthesis39
arginine degradation VI (arginase 2 pathway)39
Urea cycle and metabolism of amino groups39
asparagine biosynthesis I39
4-hydroxyproline degradation I39
citrulline degradation39
9.7OTC, ASL, ASS1
4
Show member pathways
glutamate biosynthesis II39
arginine biosynthesis IV39
9.7OTC, ASL, ASS1
5
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
9.7OTC, ASL, ASS1
6
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
9.4G6PD, ASS1, ASL, OTC
79.3SLC7A6, SLC3A2
89.3G6PD, SLC7A5, SLC3A2
98.8SLC7A8, SLC7A7, SLC3A2, SLC3A1
10
Show member pathways
8.3SLC7A8, SLC7A5, SLC7A7, SLC3A2, SLC7A6
118.3SLC7A6, SLC3A2, SLC7A7, SLC7A5, SLC7A8
12
Show member pathways
8.3SLC7A8, SLC7A5, SLC7A7, SLC3A2, SLC7A6
13
Show member pathways
7.6SLC7A8, SLC7A5, SLC7A7, SLC3A2, SLC7A2, SLC3A1

Compounds for genes affiliated with Lysinuric Protein Intolerance

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25HMDB, 46Novoseek, 52PharmGKB, 30IUPHAR, 12DrugBank, 3BitterDB
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Compounds related to Lysinuric Protein Intolerance according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1Canavaninosuccinate2510.4ASS1, ASL
2argininosuccinic acid46 2511.3ASL, ASS1
3guanidinoacetate4610.3ASS1, ASL
4sodium phenylbutyrate5210.3OTC, ASS1
5n-acetylglutamate4610.3OTC, ASL
6delta(1)pyrroline-5-carboxylate4610.3ASS1, OTC
7l-citrulline30 1211.2ASS1, OTC
8sodium benzoate52 311.1ASS1, ASL, OTC
9phenylacetic acid52 46 2512.1ASS1, ASL, OTC
10carbamoyl phosphate4610.1OTC, ASL, ASS1
11ammonium4610.1ASS1, ASL, OTC
12citrulline46 2511.1OTC, ASL, ASS1
132-aminobicyclo(2,2,1)heptane-2-carboxylic acid4610.1SLC7A8, SLC7A5
14l-ornithine30 1211.0SLC7A2, OTC
15malate4610.0G6PD, ASL, OTC
1623-diphosphoglycerate4610.0EPO, G6PD
17zinc protoporphyrin469.9G6PD, EPO
18fumarate46 1210.9ASL, EPO, G6PD
19carnitine469.7OTC, EPO, G6PD
20l-amino acid469.7SLC7A5, SLC7A8
21urea46 25 1211.6EPO, ASS1, ASL, OTC
22phenylbutyrate469.6EPO, OTC
23L-Leucine25 1210.6SLC3A2, SLC7A8
24melphalan46 52 1211.6SLC7A5, SLC7A8, EPO
25bamhi469.4TRA, OTC
26cystine469.4SLC3A1, SLC3A2, SLC7A8
27glutamine469.4SFTPD, G6PD, ASL, SLC7A5, OTC
28L-Cysteine25 1210.3SLC7A8, SLC3A2
29pyruvate469.3OTC, ASS1, G6PD
30aspartate469.3G6PD, EPO, ASS1, ASL, OTC
31lactate469.3OTC, EPO, G6PD, SFTPD
32phenylalanine469.1SLC7A8, SLC7A5, SLC3A2, SLC3A1
33glutamate469.1ASS1, ASL, SLC3A2, SLC3A1, OTC
34l-arginine30 25 1211.0ASS1, ASL, SLC7A7, SLC3A2, SLC7A6
35creatinine469.0OTC, SLC3A1, ASL, ASS1, EPO, G6PD
36nitric oxide46 25 1211.0OTC, SLC3A1, SLC7A2, ASL, ASS1, SFTPD
37glucose468.8SFTPD, G6PD, SLC7A5, SLC7A6, OTC
38ornithine46 259.8OTC, SLC7A6, SLC3A1, SLC7A7, SLC7A5, ASL
39alanine468.8ASS1, SLC7A8, SLC7A5, SLC3A2, SLC3A1
40cysteine468.5SFTPD, SLC7A8, SLC7A5, SLC3A2, SLC3A1
41sodium46 259.2SLC7A8, SLC7A5, SLC7A7, SLC3A2, SLC3A1, SLC7A6
42arginine467.8ASS1, ASL, SLC7A5, SLC7A7, SLC3A2, SLC7A2
43leucine467.8SFTPD, ASS1, SLC7A8, SLC7A5, SLC3A2, SLC3A1

GO Terms for genes affiliated with Lysinuric Protein Intolerance

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17Gene Ontology
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Cellular components related to Lysinuric Protein Intolerance according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:0163239.1SLC7A6, SLC7A7, SLC7A8
2extracellular vesicular exosomeGO:0700628.5SLC3A1, G6PD, ASS1, ASL, SLC7A5, SLC3A2
3integral component of plasma membraneGO:0058878.2SLC7A8, SLC7A7, SLC7A2, SLC3A1, SLC7A6
4plasma membraneGO:0058867.6SLC7A6, SLC3A1, SLC7A2, SLC3A2, SLC7A7, SLC7A5

Biological processes related to Lysinuric Protein Intolerance according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:00652610.0OTC, ASS1
2urea cycleGO:0000509.9OTC, ASL, ASS1
3neutral amino acid transportGO:0158049.7SLC7A5, SLC7A8
4erythrocyte maturationGO:0432499.6EPO, G6PD
5cellular nitrogen compound metabolic processGO:0346419.4ASS1, ASL, OTC
6small molecule metabolic processGO:0442819.0OTC, ASL, ASS1, NEU2, G6PD
7transportGO:0068108.7SLC7A8, SLC7A5, SLC7A7, SLC7A2, SLC7A6
8leukocyte migrationGO:0509008.5SLC7A8, SLC7A5, SLC7A7, SLC3A2, SLC7A6
9cellular amino acid metabolic processGO:0065208.5SLC7A8, SLC7A5, SLC7A7, SLC7A2, SLC3A1, SLC7A6
10blood coagulationGO:0075968.4SLC7A8, SLC7A5, SLC7A7, SLC3A2, SLC7A6
11amino acid transportGO:0068657.9SLC7A6, SLC7A8, SLC7A5, SLC7A7, SLC3A2, SLC7A2
12ion transportGO:0068117.8SLC7A8, SLC7A5, SLC7A7, SLC3A2, SLC7A2, SLC3A1
13transmembrane transportGO:0550857.8SLC7A8, SLC7A5, SLC7A7, SLC3A2, SLC7A2, SLC3A1

Molecular functions related to Lysinuric Protein Intolerance according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptide antigen bindingGO:0426059.7SLC7A5, SLC7A8
2basic amino acid transmembrane transporter activityGO:0151749.7SLC7A2, SLC3A1
3cation bindingGO:0431699.6SLC3A2, SLC3A1
4L-amino acid transmembrane transporter activityGO:0151799.4SLC7A5, SLC7A8
5neutral amino acid transmembrane transporter activityGO:0151759.1SLC7A8, SLC7A5, SLC3A2
6amino acid transmembrane transporter activityGO:0151718.7SLC7A6, SLC3A1, SLC7A7, SLC7A5, SLC7A8

Products for genes affiliated with Lysinuric Protein Intolerance

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lysinuric Protein Intolerance

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet