LPI
MCID: LYS003
MIFTS: 65

Lysinuric Protein Intolerance (LPI) malady

Genetic diseases, Rare diseases, Metabolic diseases categories
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Summaries for Lysinuric Protein Intolerance

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NIH Rare Diseases:42 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 based summary: Lysinuric Protein Intolerance, also known as LPI, is related to pulmonary alveolar proteinosis and urea cycle disorder, and has symptoms including 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 liver, and related mouse phenotypes are integument and immune system.

Genetics Home Reference:21 Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein.

Wikipedia:65 Lysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria type 2,cationic... more...

Description from OMIM:46 222700

GeneReviews summary for lpi

Aliases & Classifications for Lysinuric Protein Intolerance

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Lysinuric Protein Intolerance, Aliases & Descriptions:

Name: Lysinuric Protein Intolerance 19 42 20 22 21 46 44 48 62
Lpi 42 21 48
Lpi - Lysinuric Protein Intolerance 21 62
Hyperdibasic Aminoaciduria Type 2 48
 
Hyperdibasic Aminoaciduria 21
Dibasicamino Aciduria Ii 42
Cationic Aminoaciduria 19
Congenital Lysinuria 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
lysinuric protein intolerance:
Age of onset: Neonatal/infancy


External Ids:

OMIM46 222700
ICD10 via Orphanet26 E72.0
UMLS via Orphanet63 C0268647

Related Diseases for Lysinuric Protein Intolerance

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary alveolar proteinosis31.1SLC7A7, SFTPD
2urea cycle disorder31.0ASS1, ASL
3orotic aciduria30.8OTC, ASS1, ASL
4cystinuria30.6SLC3A1, OTC, SLC3A2, SLC7A7
5osteoporosis10.6
6systemic lupus erythematosus10.5
7lupus erythematosus10.5
8hyperdibasic aminoaciduria type 110.5
9reye syndrome10.5OTC
10pyruvate kinase deficiency10.4G6PD
11hemophagocytic lymphohistiocytosis10.4
12interstitial lung disease10.4
13argininosuccinic aciduria10.4ASL, OTC
14carbamoyl phosphate synthetase i deficiency disease10.4ASS1, OTC
15propionic acidemia10.3ASS1, OTC
16celiac disease10.3
17glomerulonephritis10.3
18hepatitis10.3
19gyrate atrophy10.3
20fanconi syndrome10.3
21dibasic aminoaciduria 210.3
22growth hormone deficiency10.3
23short stature10.3
24endotheliitis10.3
25wilson disease10.3OTC, G6PD
26ornithine carbamoyltransferase deficiency10.3OTC, ASL, ASS1
27hyperargininemia10.3ASS1, ASL, OTC
28citrullinemia10.3ASS1, OTC, ASL
29chronic granulomatous disease10.3G6PD, OTC
30homocystinuria10.2G6PD, OTC
31microcytic anemia10.2EPO, G6PD
32hemoglobinopathy10.2G6PD, EPO
33iron deficiency anemia10.2EPO, G6PD
34beta thalassemia10.2EPO, G6PD
35hemorrhagic thrombocythemia10.2G6PD, EPO
36phenylketonuria10.2G6PD, OTC, SLC7A5
37polycythemia10.2G6PD, EPO
38hyperammonemia multi-gene panels10.2ASS1, OTC, ASL, SLC7A7
39iron metabolism disease10.1G6PD, EPO
40alpha thalassemia10.1EPO, G6PD
41hemolytic anemia10.1G6PD, EPO
42galactosemia10.1ASS1, G6PD, ASL
43respiratory failure10.1G6PD, SFTPD
44chronic myeloid leukemia10.0ASS1, G6PD, EPO
45metabolic syndrome x10.0SLC3A1, G6PD, ASS1, OTC
46polycythemia vera10.0G6PD, EPO
47sickle cell disease9.9G6PD, 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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Symptoms by clinical synopsis from OMIM:

222700

Clinical features from OMIM:

222700

HPO human phenotypes related to Lysinuric Protein Intolerance:

(show all 33)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 psychotic episodes HP:0000725
3 osteoporosis HP:0000939
4 cutis laxa HP:0000973
5 hyperextensible skin HP:0000974
6 muscular hypotonia HP:0001252
7 muscle weakness HP:0001324
8 failure to thrive HP:0001508
9 pancreatitis HP:0001733
10 splenomegaly HP:0001744
11 thrombocytopenia HP:0001873
12 leukopenia HP:0001882
13 anemia HP:0001903
14 truncal obesity HP:0001956
15 hyperammonemia HP:0001987
16 vomiting HP:0002013
17 diarrhea HP:0002014
18 nausea HP:0002018
19 respiratory insufficiency HP:0002093
20 fine hair HP:0002213
21 hepatomegaly HP:0002240
22 delayed skeletal maturation HP:0002750
23 amyotrophy HP:0003202
24 oroticaciduria HP:0003218
25 increased serum ferritin HP:0003281
26 infantile onset HP:0003593
27 stage 5 chronic kidney disease HP:0003774
28 phenotypic variability HP:0003812
29 short stature HP:0004322
30 malnutrition HP:0004395
31 alveolar proteinosis HP:0006517
32 sparse hair HP:0008070
33 hemophagocytosis HP:0012156

Drugs & Therapeutics for Lysinuric Protein Intolerance

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Drug clinical trials:

Search ClinicalTrials for Lysinuric Protein Intolerance

Search NIH Clinical Center for Lysinuric Protein Intolerance

Genetic Tests for Lysinuric Protein Intolerance

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Genetic tests related to Lysinuric Protein Intolerance:

id Genetic test Affiliating Genes
1 Lysinuric Protein Intolerance20 22 SLC7A7

Anatomical Context for Lysinuric Protein Intolerance

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MalaCards organs/tissues related to Lysinuric Protein Intolerance:

32
Lung, Kidney, Liver, T cells, Bone marrow, Bone, Heart, Breast, Skin, Myeloid, Monocytes, Endothelial

Animal Models for Lysinuric Protein Intolerance or affiliated genes

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MGI Mouse Phenotypes related to Lysinuric Protein Intolerance:

36
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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Articles related to Lysinuric Protein Intolerance:

(show top 50)    (show all 136)
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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UniProtKB/Swiss-Prot genetic disease variations for Lysinuric Protein Intolerance:

64 (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:

6 (show all 51)
id Gene Name Type Significance SNP ID Assembly Location
1SLC7A7NM_001126105.2(SLC7A7): c.14C> T (p.Thr5Ile)single nucleotide variantLikely pathogenicrs386833792GRCh37Chr 14, 23282594: 23282594
2SLC7A7NM_001126105.2(SLC7A7): c.158C> T (p.Ser53Leu)single nucleotide variantLikely pathogenicrs386833793GRCh37Chr 14, 23282450: 23282450
3SLC7A7NM_001126105.2(SLC7A7): c.1005_1008delCTTT (p.Phe335Leufs)deletionLikely pathogenicrs386833794GRCh37Chr 14, 23244740: 23244743
4SLC7A7NM_001126105.2(SLC7A7): c.1013G> A (p.Gly338Asp)single nucleotide variantLikely pathogenicrs386833795GRCh37Chr 14, 23244735: 23244735
5SLC7A7NM_001126105.2(SLC7A7): c.105_107delGGA (p.Glu36del)deletionLikely pathogenicrs386833796GRCh37Chr 14, 23282501: 23282503
6SLC7A7NM_001126105.2(SLC7A7): c.1093A> T (p.Asn365Tyr)single nucleotide variantLikely pathogenicrs386833797GRCh37Chr 14, 23244655: 23244655
7SLC7A7NM_001126105.2(SLC7A7): c.1147_1151dupAACTA (p.Tyr384Terfs)duplicationLikely pathogenicrs386833798GRCh37Chr 14, 23243657: 23243661
8SLC7A7NM_001126105.2(SLC7A7): c.1158C> A (p.Ser386Arg)single nucleotide variantLikely pathogenicrs386833799GRCh37Chr 14, 23243650: 23243650
9SLC7A7NM_001126105.2(SLC7A7): c.1185_1188delTTCT (p.Ser396Leufs)deletionLikely pathogenicrs386833800GRCh37Chr 14, 23243620: 23243623
10SLC7A7NM_001126105.2(SLC7A7): c.1262delC (p.Pro421Argfs)deletionLikely pathogenicrs386833801GRCh37Chr 14, 23243309: 23243309
11SLC7A7NM_001126105.2(SLC7A7): c.1273T> C (p.Cys425Arg)single nucleotide variantLikely pathogenicrs386833802GRCh37Chr 14, 23243298: 23243298
12SLC7A7NM_001126105.2(SLC7A7): c.1344delC (p.Ile449Leufs)deletionLikely pathogenicrs386833803GRCh37Chr 14, 23243227: 23243227
13SLC7A7NM_001126105.2(SLC7A7): c.1371C> A (p.Tyr457Ter)single nucleotide variantLikely pathogenicrs386833804GRCh37Chr 14, 23243200: 23243200
14SLC7A7NM_001126105.2(SLC7A7): c.1381_1384dupATCA (p.Arg462Asnfs)duplicationLikely pathogenicrs386833805GRCh37Chr 14, 23243187: 23243190
15SLC7A7NM_001126105.2(SLC7A7): c.1387delG (p.Val463Cysfs)deletionLikely pathogenicrs386833806GRCh37Chr 14, 23243184: 23243184
16SLC7A7NM_001126105.2(SLC7A7): c.1402C> T (p.Arg468Ter)single nucleotide variantLikely pathogenicrs386833807GRCh37Chr 14, 23243169: 23243169
17SLC7A7NM_001126105.2(SLC7A7): c.1417C> T (p.Arg473Ter)single nucleotide variantLikely pathogenicrs386833808GRCh37Chr 14, 23243154: 23243154
18SLC7A7NM_001126105.2(SLC7A7): c.1460delG (p.Cys487Leufs)deletionLikely pathogenicrs386833809GRCh37Chr 14, 23242895: 23242895
19SLC7A7NM_001126105.2(SLC7A7): c.1465T> C (p.Ser489Pro)single nucleotide variantLikely pathogenicrs386833810GRCh37Chr 14, 23242890: 23242890
20SLC7A7NM_001126105.2(SLC7A7): c.149T> A (p.Met50Lys)single nucleotide variantLikely pathogenicrs386833811GRCh37Chr 14, 23282459: 23282459
21SLC7A7NM_001126105.2(SLC7A7): c.215_218delCTCT (p.Ser72Trpfs)deletionLikely pathogenicrs386833812GRCh37Chr 14, 23282390: 23282393
22SLC7A7NM_001126105.2(SLC7A7): c.254_255delTT (p.Phe85Trpfs)deletionLikely pathogenicrs386833813GRCh37Chr 14, 23282353: 23282354
23SLC7A7NM_001126105.2(SLC7A7): c.371T> C (p.Leu124Pro)single nucleotide variantLikely pathogenicrs386833814GRCh37Chr 14, 23282237: 23282237
24SLC7A7NM_001126105.2(SLC7A7): c.418G> C (p.Ala140Pro)single nucleotide variantLikely pathogenicrs386833815GRCh37Chr 14, 23282190: 23282190
25SLC7A7NM_001126105.2(SLC7A7): c.454T> C (p.Phe152Leu)single nucleotide variantLikely pathogenicrs386833816GRCh37Chr 14, 23282154: 23282154
26SLC7A7NM_001126105.2(SLC7A7): c.499+1G> Asingle nucleotide variantLikely pathogenicrs386833817GRCh37Chr 14, 23282108: 23282108
27SLC7A7NM_001126105.2(SLC7A7): c.545dupT (p.Val183Glyfs)duplicationLikely pathogenicrs386833818GRCh37Chr 14, 23249214: 23249215
28SLC7A7NM_001126105.2(SLC7A7): c.563C> T (p.Thr188Ile)single nucleotide variantLikely pathogenicrs386833819GRCh37Chr 14, 23249197: 23249197
29SLC7A7NM_001126105.2(SLC7A7): c.571A> G (p.Lys191Glu)single nucleotide variantLikely pathogenicrs386833820GRCh37Chr 14, 23249189: 23249189
30SLC7A7NM_001126105.2(SLC7A7): c.622C> T (p.Gln208Ter)single nucleotide variantLikely pathogenicrs386833821GRCh37Chr 14, 23249138: 23249138
31SLC7A7NM_001126105.2(SLC7A7): c.625+1G> Asingle nucleotide variantLikely pathogenicrs386833822GRCh37Chr 14, 23249134: 23249134
32SLC7A7NM_001126105.2(SLC7A7): c.625+1G> Csingle nucleotide variantLikely pathogenicrs386833822GRCh37Chr 14, 23249134: 23249134
33SLC7A7NM_001126105.2(SLC7A7): c.713C> T (p.Ser238Phe)single nucleotide variantLikely pathogenicrs386833823GRCh37Chr 14, 23248059: 23248059
34SLC7A7NM_001126105.2(SLC7A7): c.753G> T (p.Glu251Asp)single nucleotide variantLikely pathogenicrs386833824GRCh37Chr 14, 23248019: 23248019
35SLC7A7NM_001126105.2(SLC7A7): c.782T> C (p.Leu261Pro)single nucleotide variantLikely pathogenicrs386833825GRCh37Chr 14, 23245516: 23245516
36SLC7A7NM_001126105.2(SLC7A7): c.820dupT (p.Tyr274Leufs)duplicationLikely pathogenicrs386833826GRCh37Chr 14, 23245477: 23245478
37SLC7A7NM_001126105.2(SLC7A7): c.894+1G> Tsingle nucleotide variantLikely pathogenicrs386833827GRCh37Chr 14, 23245403: 23245403
38SLC7A7NM_001126105.2(SLC7A7): c.895-2A> Gsingle nucleotide variantLikely pathogenicrs146582474GRCh37Chr 14, 23245147: 23245147
39SLC7A7NM_001126105.2(SLC7A7): c.998+1G> Tsingle nucleotide variantLikely pathogenicrs386833828GRCh37Chr 14, 23245041: 23245041
40SLC7A7NM_001126105.2(SLC7A7): c.998G> T (p.Arg333Met)single nucleotide variantLikely pathogenicrs386833829GRCh37Chr 14, 23245042: 23245042
41SLC7A7SLC7A7, IVS6AS, A-T, -2single nucleotide variantPathogenic
42SLC7A7SLC7A7, 455-BP DEL, NT197deletionPathogenic
43SLC7A7SLC7A7, 4-BP INS, 1384ATCAinsertionPathogenic
44SLC7A7NM_001126105.2(SLC7A7): c.1A> C (p.Met1Leu)single nucleotide variantPathogenicrs121908676GRCh37Chr 14, 23282607: 23282607
45SLC7A7NM_001126105.2(SLC7A7): c.1001T> G (p.Leu334Arg)single nucleotide variantPathogenicrs72552272GRCh37Chr 14, 23244747: 23244747
46SLC7A7SLC7A7, 4-BP DEL, 1005CTTTdeletionPathogenic
47SLC7A7NM_001126105.2(SLC7A7): c.161G> T (p.Gly54Val)single nucleotide variantPathogenicrs121908677GRCh37Chr 14, 23282447: 23282447
48SLC7A7NM_001126105.2(SLC7A7): c.1228C> T (p.Arg410Ter)single nucleotide variantPathogenicrs121908678GRCh37Chr 14, 23243580: 23243580
49SLC7A7SLC7A7, IVS4DS, G-A, +1single nucleotide variantPathogenic
50SLC7A7NM_001126105.2(SLC7A7): c.726G> A (p.Trp242Ter)single nucleotide variantPathogenicrs121908679GRCh37Chr 14, 23248046: 23248046
51SLC7A7SLC7A7, EX6-11, DELdeletionPathogenic

Expression for genes affiliated with Lysinuric Protein Intolerance

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Expression patterns in normal tissues for genes affiliated with Lysinuric Protein Intolerance

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Pathways for genes affiliated with Lysinuric Protein Intolerance

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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 cycle37
arginine degradation I (arginase pathway)37
proline degradation37
glutamine degradation I37
proline biosynthesis I37
superpathway of citrulline metabolism37
proline biosynthesis II (from arginine)37
citrulline biosynthesis37
arginine degradation VI (arginase 2 pathway)37
Urea cycle and metabolism of amino groups37
asparagine biosynthesis I37
4-hydroxyproline degradation I37
citrulline degradation37
9.7OTC, ASL, ASS1
4
Show member pathways
glutamate biosynthesis II37
arginine biosynthesis IV37
9.7OTC, ASL, ASS1
5
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
9.7OTC, ASL, ASS1
6
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
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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Sources:
24HMDB, 44Novoseek, 50PharmGKB, 28IUPHAR, 11DrugBank, 2BitterDB
See all sources

Compounds related to Lysinuric Protein Intolerance according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1Canavaninosuccinate2410.4ASS1, ASL
2argininosuccinic acid44 2411.3ASL, ASS1
3guanidinoacetate4410.3ASS1, ASL
4sodium phenylbutyrate5010.3OTC, ASS1
5n-acetylglutamate4410.3OTC, ASL
6delta(1)pyrroline-5-carboxylate4410.3ASS1, OTC
7l-citrulline28 1111.2ASS1, OTC
8sodium benzoate50 211.1ASS1, ASL, OTC
9phenylacetic acid50 44 2412.1ASS1, ASL, OTC
10carbamoyl phosphate4410.1OTC, ASL, ASS1
11ammonium4410.1ASS1, ASL, OTC
12citrulline44 2411.1OTC, ASL, ASS1
132-aminobicyclo(2,2,1)heptane-2-carboxylic acid4410.1SLC7A8, SLC7A5
14l-ornithine28 1111.0SLC7A2, OTC
15malate4410.0G6PD, ASL, OTC
1623-diphosphoglycerate4410.0EPO, G6PD
17zinc protoporphyrin449.9G6PD, EPO
18fumarate44 1110.9ASL, EPO, G6PD
19carnitine449.7OTC, EPO, G6PD
20l-amino acid449.7SLC7A5, SLC7A8
21urea44 24 1111.6EPO, ASS1, ASL, OTC
22phenylbutyrate449.6EPO, OTC
23L-Leucine24 1110.6SLC3A2, SLC7A8
24melphalan44 50 1111.6SLC7A5, SLC7A8, EPO
25bamhi449.4TRA, OTC
26cystine449.4SLC3A1, SLC3A2, SLC7A8
27glutamine449.4SFTPD, G6PD, ASL, SLC7A5, OTC
28L-Cysteine24 1110.3SLC7A8, SLC3A2
29pyruvate449.3OTC, ASS1, G6PD
30aspartate449.3G6PD, EPO, ASS1, ASL, OTC
31lactate449.3OTC, EPO, G6PD, SFTPD
32phenylalanine449.1SLC7A8, SLC7A5, SLC3A2, SLC3A1
33glutamate449.1ASS1, ASL, SLC3A2, SLC3A1, OTC
34l-arginine28 24 1111.0ASS1, ASL, SLC7A7, SLC3A2, SLC7A6
35creatinine449.0OTC, SLC3A1, ASL, ASS1, EPO, G6PD
36nitric oxide44 24 1111.0OTC, SLC3A1, SLC7A2, ASL, ASS1, SFTPD
37glucose448.8SFTPD, G6PD, SLC7A5, SLC7A6, OTC
38ornithine44 249.8OTC, SLC7A6, SLC3A1, SLC7A7, SLC7A5, ASL
39alanine448.8ASS1, SLC7A8, SLC7A5, SLC3A2, SLC3A1
40cysteine448.5SFTPD, SLC7A8, SLC7A5, SLC3A2, SLC3A1
41sodium44 249.2SLC7A8, SLC7A5, SLC7A7, SLC3A2, SLC3A1, SLC7A6
42arginine447.8ASS1, ASL, SLC7A5, SLC7A7, SLC3A2, SLC7A2
43leucine447.8SFTPD, ASS1, SLC7A8, SLC7A5, SLC3A2, SLC3A1

GO Terms for genes affiliated with Lysinuric Protein Intolerance

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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

Sources for Lysinuric Protein Intolerance

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet