MCID: LYS003
MIFTS: 60

Lysinuric Protein Intolerance malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Summaries for Lysinuric Protein Intolerance

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NIH Rare Diseases:41 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 autosomal recessive inheritance, psychotic episodes and osteoporosis. 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 kidney, lung and skin, 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.

OMIM:45 Lysinuric protein intolerance is caused by defective cationic amino acid (CAA) transport at the basolateral membrane of... (222700) more...

Wikipedia:63 Lysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria type 2,cationic... more...

GeneReviews summary for lpi

Aliases & Classifications for Lysinuric Protein Intolerance

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Lysinuric Protein Intolerance, Aliases & Descriptions:

Name: Lysinuric Protein Intolerance 45 10 19 41 20 21 43 47 22 60
Lpi 41 21 47
Hyperdibasic Aminoaciduria Type 2 41 47
Lpi - Lysinuric Protein Intolerance 21
 
Hyperdibasic Aminoaciduria 21
Dibasicamino Aciduria Ii 41
Cationic Aminoaciduria 19
Congenital Lysinuria 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
lysinuric protein intolerance:
Prevalence: 1-9/100000 (Italy),1-9/100000 (Finland); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 222700
Orphanet47 470
ICD10 via Orphanet26 E72.0
UMLS via Orphanet61 C0268647

Related Diseases for Lysinuric Protein Intolerance

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

(show all 46)
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
8growth hormone deficiency10.5
9hyperdibasic aminoaciduria type 110.5
10reye syndrome10.5OTC
11hemophagocytic lymphohistiocytosis10.4
12fanconi syndrome10.4
13interstitial lung disease10.4
14pyruvate kinase deficiency10.4G6PD
15argininosuccinic aciduria10.4ASL, OTC
16carbamoylphosphate synthetase i deficiency10.4ASS1, OTC
17propionicacidemia10.3ASS1, OTC
18celiac disease10.3
19glomerulonephritis10.3
20hepatitis10.3
21glucose-6-phosphate dehydrogenase deficiency10.3
22dibasic aminoaciduria 210.3
23endotheliitis10.3
24wilson disease10.3OTC, G6PD
25ornithine transcarbamylase deficiency10.3OTC, ASL, ASS1
26argininemia10.3ASS1, ASL, OTC
27citrullinemia10.3ASS1, OTC, ASL
28chronic granulomatous disease10.2G6PD, OTC
29homocystinuria10.2G6PD, OTC
30microcytic anemia10.2EPO, G6PD
31hemoglobinopathy10.2G6PD, EPO
32iron deficiency anemia10.2EPO, G6PD
33thalassemia, hispanic gamma-delta-beta10.2EPO, G6PD
34phenylketonuria10.2G6PD, OTC, SLC7A5
35essential thrombocythemia10.2G6PD, EPO
36polycythemia10.2G6PD, EPO
37hyperammonemia multi-gene panels10.2ASS1, OTC, ASL, SLC7A7
38iron metabolism disease10.1G6PD, EPO
39thalassemia10.1EPO, G6PD
40hemolytic anemia10.1G6PD, EPO
41galactosemia10.1ASS1, G6PD, ASL
42respiratory failure10.1G6PD, SFTPD
43leukemia, chronic myeloid10.0ASS1, G6PD, EPO
44metabolic syndrome x10.0SLC3A1, G6PD, ASS1, OTC
45polycythemia vera10.0G6PD, EPO
46sickle 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:

31
Kidney, Lung, Skin, Bone marrow, Bone, Liver, T cells, Heart, Breast, Myeloid, Monocytes, Endothelial

Animal Models for Lysinuric Protein Intolerance or affiliated genes

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MGI Mouse Phenotypes related to Lysinuric Protein Intolerance:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.0OTC, EPO, ASS1, ASL, SLC7A7
2MP:00053877.8OTC, ASS1, ASL, SLC7A7, SLC3A2, SLC7A2
3MP:00053787.7SFTPD, ASL, ASS1, SLC7A7, SLC3A2, SLC3A1
4MP:00053977.6SLC7A7, ASL, EPO, SLC3A2, G6PD, OTC
5MP:00053767.5OTC, SLC3A1, SLC3A2, SLC7A7, ASL, ASS1
6MP:00107687.4ASS1, G6PD, OTC, SLC3A2, SLC7A7, SLC7A5

Publications for Lysinuric Protein Intolerance

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Articles related to Lysinuric Protein Intolerance:

(show top 50)    (show all 140)
idTitleAuthorsYear
1
Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature. (25614305)
2015
2
Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance. (23358709)
2013
3
Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance. (23430827)
2011
4
Lysinuric protein intolerance: reviewing concepts on a multisystem disease. (21308987)
2011
5
In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages. (21110863)
2010
6
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. (18716612)
2009
7
SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance. (20030831)
2009
8
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. (18846670)
2008
9
Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance. (17517249)
2007
10
Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7. (17196863)
2007
11
Lysinuric protein intolerance: one gene, many problems. (17475666)
2007
12
Haemophagocytosis by myeloid precursors in lysinuric protein intolerance. (17474972)
2007
13
Nutrient intake in lysinuric protein intolerance. (17588131)
2007
14
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. (17376816)
2007
15
Hazards associated with pregnancies and deliveries in lysinuric protein intolerance. (16423630)
2006
16
Growth hormone deficiency in a patient with lysinuric protein intolerance. (16775724)
2006
17
Recurrent stupor due to lysinuric protein intolerance. (16230804)
2005
18
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. (15289783)
2004
19
A historical aspect of lysinuric protein intolerance in a northern part of Iwate, Japan. (12713148)
2003
20
Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance. (12870174)
2003
21
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. (10737982)
2000
22
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
23
Effect of lysine infusion on urea cycle in lysinuric protein intolerance. (10831173)
2000
24
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. (10080183)
1999
25
Reduced nitric oxide production by L-arginine deficiency in lysinuric protein intolerance exacerbates intravascular coagulation. (10484053)
1999
26
Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11. (10364825)
1999
27
Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance. (9931537)
1999
28
Lysinuric protein intolerance and systemic lupus erythematosus. (9504787)
1998
29
Lysinuric protein intolerance masquerading as celiac disease: a case report. (9470018)
1998
30
Complications of lysinuric protein intolerance must be treated with immunosuppressive drugs. (9762605)
1998
31
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
32
Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. (9199570)
1997
33
Sudden infant death and lysinuric protein intolerance. (8929742)
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:

62 (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 Variation 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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Search GEO for disease gene expression data for Lysinuric Protein Intolerance.

Pathways for genes affiliated with Lysinuric Protein Intolerance

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Pathways related to Lysinuric Protein Intolerance according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0ASS1, ASL
210.0ASS1, ASL
3
Show member pathways
citrulline-nitric oxide cycle36
arginine degradation I (arginase pathway)36
proline degradation36
glutamine degradation I36
proline biosynthesis I36
superpathway of citrulline metabolism36
proline biosynthesis II (from arginine)36
citrulline biosynthesis36
arginine degradation VI (arginase 2 pathway)36
Urea cycle and metabolism of amino groups36
asparagine biosynthesis I36
4-hydroxyproline degradation I36
citrulline degradation36
9.7OTC, ASS1, ASL
4
Show member pathways
glutamate biosynthesis II36
arginine biosynthesis IV36
9.7ASL, ASS1, OTC
5
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
9.7ASS1, OTC, ASL
6
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.4OTC, ASL, ASS1, G6PD
79.3SLC3A2, SLC7A5, G6PD
88.8SLC3A1, SLC3A2, SLC7A7, SLC7A8
9
Show member pathways
8.3SLC7A5, SLC7A6, SLC7A8, SLC3A2, SLC7A7
108.3SLC3A2, SLC7A7, SLC7A6, SLC7A5, SLC7A8
11
Show member pathways
8.3SLC7A6, SLC3A2, SLC7A7, SLC7A5, SLC7A8
12
Show member pathways
7.6SLC7A7, SLC3A2, SLC7A2, SLC7A8, SLC7A6, SLC3A1

Compounds for genes affiliated with Lysinuric Protein Intolerance

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Sources:
24HMDB, 43Novoseek, 49PharmGKB, 28IUPHAR, 12DrugBank, 2BitterDB
See all sources

Compounds related to Lysinuric Protein Intolerance according to GeneCards Suite gene sharing:

(show all 43)
idCompoundScoreTop Affiliating Genes
1Canavaninosuccinate2410.4ASS1, ASL
2argininosuccinic acid43 2411.3ASS1, ASL
3sodium phenylbutyrate4910.3ASS1, OTC
4guanidinoacetate4310.3ASS1, ASL
5n-acetylglutamate4310.3ASL, OTC
6delta(1)pyrroline-5-carboxylate4310.3ASS1, OTC
7l-citrulline28 1211.2ASS1, OTC
8sodium benzoate49 211.1ASS1, ASL, OTC
9phenylacetic acid49 43 2412.1ASL, OTC, ASS1
10carbamoyl phosphate4310.1OTC, ASL, ASS1
11ammonium4310.1ASS1, ASL, OTC
12citrulline43 2411.1ASS1, ASL, OTC
132-aminobicyclo(2,2,1)heptane-2-carboxylic acid4310.1SLC7A8, SLC7A5
14malate4310.0OTC, ASL, G6PD
15l-ornithine28 1211.0OTC, SLC7A2
1623-diphosphoglycerate4310.0G6PD, EPO
17zinc protoporphyrin439.9EPO, G6PD
18fumarate43 1210.9G6PD, ASL, EPO
19phenylbutyrate439.7EPO, OTC
20carnitine439.7G6PD, EPO, OTC
21l-amino acid439.7SLC7A5, SLC7A8
22urea43 24 1211.6EPO, ASS1, ASL, OTC
23L-Leucine24 1210.6SLC3A2, SLC7A8
24melphalan43 49 1211.6SLC7A5, EPO, SLC7A8
25bamhi439.4OTC, TRA
26cystine439.4SLC3A1, SLC7A8, SLC3A2
27glutamine439.4ASL, G6PD, SFTPD, SLC7A5, OTC
28pyruvate439.3OTC, G6PD, ASS1
29aspartate439.3OTC, EPO, ASS1, G6PD, ASL
30lactate439.3EPO, SFTPD, OTC, G6PD
31L-Cysteine24 1210.2SLC7A8, SLC3A2
32phenylalanine439.1SLC3A2, SLC7A5, SLC7A8, SLC3A1
33glutamate439.1SLC3A2, SLC3A1, OTC, ASL, ASS1
34l-arginine28 24 1211.0SLC7A6, SLC3A2, SLC7A7, ASL, ASS1
35creatinine439.0G6PD, OTC, SLC3A1, ASL, ASS1, EPO
36nitric oxide43 24 1211.0SLC7A2, SFTPD, ASS1, ASL, SLC3A1, OTC
37glucose438.8SLC7A6, OTC, SLC7A5, G6PD, SFTPD
38ornithine43 249.8SLC3A1, ASL, ASS1, SLC7A7, SLC7A5, OTC
39alanine438.8ASS1, SLC7A5, SLC7A8, SLC3A2, SLC3A1
40cysteine438.5SLC7A5, SFTPD, SLC3A1, SLC7A8, SLC3A2
41sodium43 249.2SLC7A7, SLC7A8, SLC7A5, OTC, SLC3A1, SLC3A2
42arginine437.8SLC7A6, SLC3A1, SLC7A2, SLC3A2, SLC7A7, SLC7A5
43leucine437.8OTC, SLC7A6, SLC3A1, SLC7A5, SLC7A8, ASS1

GO Terms for genes affiliated with Lysinuric Protein Intolerance

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Cellular components related to Lysinuric Protein Intolerance according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:00163239.1SLC7A6, SLC7A7, SLC7A8
2extracellular vesicular exosomeGO:00700628.5SLC3A1, G6PD, ASS1, ASL, SLC7A5, SLC3A2
3integral component of plasma membraneGO:00058878.2SLC7A8, SLC7A7, SLC7A2, SLC3A1, SLC7A6
4plasma membraneGO:00058867.6SLC7A6, SLC3A1, SLC7A2, SLC3A2, SLC7A7, SLC7A5

Biological processes related to Lysinuric Protein Intolerance according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:000652610.0OTC, ASS1
2urea cycleGO:00000509.9ASL, OTC, ASS1
3neutral amino acid transportGO:00158049.7SLC7A5, SLC7A8
4erythrocyte maturationGO:00432499.6EPO, G6PD
5cellular nitrogen compound metabolic processGO:00346419.4ASL, ASS1, OTC
6small molecule metabolic processGO:00442819.0G6PD, NEU2, ASL, OTC, ASS1
7transportGO:00068108.7SLC7A2, SLC7A7, SLC7A5, SLC7A8, SLC7A6
8leukocyte migrationGO:00509008.5SLC7A5, SLC7A7, SLC7A6, SLC3A2, SLC7A8
9cellular amino acid metabolic processGO:00065208.5SLC7A5, SLC7A8, SLC7A7, SLC7A2, SLC3A1, SLC7A6
10blood coagulationGO:00075968.4SLC3A2, SLC7A7, SLC7A5, SLC7A8, SLC7A6
11amino acid transportGO:00068657.9SLC7A2, SLC7A5, SLC7A7, SLC7A8, SLC7A6, SLC3A1
12ion transportGO:00068117.8SLC7A8, SLC7A2, SLC3A1, SLC7A6, SLC7A7, SLC7A5
13transmembrane transportGO:00550857.8SLC7A8, SLC7A5, SLC7A7, SLC3A2, SLC7A2, SLC3A1

Molecular functions related to Lysinuric Protein Intolerance according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1peptide antigen bindingGO:00426059.7SLC7A5, SLC7A8
2basic amino acid transmembrane transporter activityGO:00151749.7SLC7A2, SLC3A1
3cation bindingGO:00431699.6SLC3A2, SLC3A1
4L-amino acid transmembrane transporter activityGO:00151799.4SLC7A5, SLC7A8
5neutral amino acid transmembrane transporter activityGO:00151759.1SLC7A8, SLC7A5, SLC3A2
6amino acid transmembrane transporter activityGO:00151718.7SLC7A6, SLC3A1, SLC7A7, SLC7A5, SLC7A8

Products for genes affiliated with Lysinuric Protein Intolerance

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Lysinuric Protein Intolerance

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet