MCID: LYS003
MIFTS: 56

Lysinuric Protein Intolerance malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Lysinuric Protein Intolerance

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Sources:
49OMIM, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Lysinuric Protein Intolerance:

Name: Lysinuric Protein Intolerance 49 11 21 45 22 23 47 51 24 65 67
Lpi 45 22 23 51 67
Cationic Aminoaciduria 21 22
Lpi - Lysinuric Protein Intolerance 23
Hyperdibasic Aminoaciduria Type 2 51
 
Hyperdibasic Aminoaciduria 23
Dibasic Amino Aciduria Ii 67
Dibasicamino Aciduria Ii 45
Congenital Lysinuria 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
lysinuric protein intolerance:
Prevalence: 1-9/100000 (Italy),1-9/100000 (Finland); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 222700
Orphanet51 470
ICD10 via Orphanet28 E72.0
UMLS via Orphanet66 C0268647
MedGen34 C0268647
MeSH36 D000592

Summaries for Lysinuric Protein Intolerance

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NIH Rare Diseases:45 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 cystinuria and orotic aciduria, 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. Affiliated tissues include kidney, lung and bone, and related mouse phenotypes are immune system and growth/size/body.

Genetics Home Reference:23 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:49 Lysinuric protein intolerance is caused by defective cationic amino acid (CAA) transport at the basolateral membrane of... (222700) more...

UniProtKB/Swiss-Prot:67 Lysinuric protein intolerance: A metabolic disorder characterized by increased renal excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria. On a normal diet, LPI patients present poor feeding, vomiting, diarrhea, episodes of hyperammoniaemic coma and growth retardation. Hepatosplenomegaly, osteoporosis and a life-threatening pulmonary involvement (alveolar proteinosis) are also seen. Biochemically LPI is characterized by defective transport of dibasic amino acids at the basolateral membrane of epithelial cells in kidney and intestine.

Wikipedia:68 Lysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria type 2,cationic... more...

GeneReviews summary for lpi

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 50)
idRelated DiseaseScoreTop Affiliating Genes
1cystinuria30.3SLC3A1, SLC3A2, SLC7A7
2orotic aciduria30.0ASL, ASS1, OTC, SLC7A7
3osteoporosis10.6
4hyperdibasic aminoaciduria type 110.6
5systemic lupus erythematosus10.5
6pulmonary alveolar proteinosis10.5
7lupus erythematosus10.5
8growth hormone deficiency10.5
9hemophagocytic lymphohistiocytosis10.4
10fanconi syndrome10.4
11interstitial lung disease10.4
12celiac disease10.3
13glomerulonephritis10.3
14hepatitis10.3
15urea cycle disorder10.3
16glucose-6-phosphate dehydrogenase deficiency10.3
17dibasic aminoaciduria 210.3
18hyperammonemia10.3
19endotheliitis10.3
20myelodysplastic syndrome10.0
21aplastic anemia10.0
22deficiency anemia10.0
23myelodysplastic myeloproliferative cancer10.0
24myelofibrosis10.0
25thalassemia10.0
26ocular hypertension10.0
27spiradenoma10.0
28bone marrow cancer10.0
29chronic myeloproliferative disease10.0
30complex regional pain syndrome10.0
31eye disease10.0
32globe disease10.0
33lens disease10.0
34lip cancer10.0
35plasma cell neoplasm10.0
36pre-malignant neoplasm10.0
37primary angle-closure glaucoma10.0
38reading disorder10.0
39isolated dandy-walker malformation9.9ASS1, OTC
40radial neuropathy9.9OTC, SLC7A7
41propionicacidemia9.9ASS1, OTC, SLC7A7
42senile degeneration of brain9.9ASS1, OTC
43hyperleucine-isoleucinemia9.8ASL, OTC
44hyperornithinemia-hyperammonemia-homocitrullinemia syndrome9.8OTC, SLC7A7
45argininemia9.8ASL, ASS1, OTC
46argininosuccinic aciduria9.8ASL, ASS1, OTC
47mental retardation, x-linked, syndromic 179.8ASL, ASS1, OTC
48citrullinemia9.8ASL, ASS1, OTC
49vocal cord scarring9.7ASL, ASS1, OTC, SLC7A7
50immunodeficiency 7, tcr-alpha/beta deficient8.2ASL, ASS1, G6PD, NEU2, OTC, SFTPD

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 34)
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 skeletal muscle atrophy HP:0003202
24 oroticaciduria HP:0003218
25 increased serum ferritin HP:0003281
26 aminoaciduria HP:0003355
27 infantile onset HP:0003593
28 stage 5 chronic kidney disease HP:0003774
29 phenotypic variability HP:0003812
30 short stature HP:0004322
31 malnutrition HP:0004395
32 alveolar proteinosis HP:0006517
33 sparse hair HP:0008070
34 hemophagocytosis HP:0012156

Drugs & Therapeutics for Lysinuric Protein Intolerance

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Interventional clinical trials:

Search ClinicalTrials, 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 Intolerance22 24 SLC7A7

Anatomical Context for Lysinuric Protein Intolerance

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MalaCards organs/tissues related to Lysinuric Protein Intolerance:

33
Kidney, Lung, Bone, Skin, Skeletal muscle, T cells, Liver

Animal Models for Lysinuric Protein Intolerance or affiliated genes

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MGI Mouse Phenotypes related to Lysinuric Protein Intolerance:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.6ASL, ASS1, OTC, SFTPD, SLC3A1, SLC3A2
2MP:00053787.1ASL, ASS1, G6PD, OTC, SFTPD, SLC3A1
3MP:00053766.8ASL, ASS1, G6PD, OTC, SFTPD, SLC3A1

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
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:

67 (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:

5 (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, 23249215: 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, 23245478: 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:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9ASL, ASS1
29.9ASL, ASS1
3
Show member pathways
9.3ASL, ASS1, OTC
4
Show member pathways
9.3ASL, ASS1, OTC
59.1SLC3A1, SLC3A2, SLC7A7, SLC7A8
6
Show member pathways
8.9SLC3A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
7
Show member pathways
8.9SLC3A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
88.9SLC3A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
9
Show member pathways
8.5ASL, ASS1, G6PD, OTC
10
Show member pathways
8.2SLC3A1, SLC3A2, SLC7A2, SLC7A5, SLC7A6, SLC7A7

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:00163239.7SLC7A6, SLC7A7, SLC7A8
2integral component of plasma membraneGO:00058878.7SLC3A1, SLC7A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
3membraneGO:00160206.9G6PD, NEU2, SLC3A1, SLC3A2, SLC7A2, SLC7A5

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1tryptophan transportGO:001582710.6SLC3A2, SLC7A5
2basic amino acid transportGO:001580210.6SLC3A1, SLC7A7
3arginine biosynthetic processGO:000652610.3ASL, ASS1
4arginine biosynthetic process via ornithineGO:004245010.3ASL, OTC
5basic amino acid transmembrane transportGO:199082210.2SLC3A1, SLC7A2, SLC7A7
6neutral amino acid transportGO:001580410.0SLC3A2, SLC7A5, SLC7A8
7L-amino acid transportGO:001580710.0SLC7A5, SLC7A6, SLC7A7, SLC7A8
8L-alpha-amino acid transmembrane transportGO:190247510.0SLC7A5, SLC7A6, SLC7A7, SLC7A8
9midgut developmentGO:00074949.9ASS1, OTC
10response to zinc ionGO:00100439.9ASS1, OTC
11urea cycleGO:00000509.7ASL, ASS1, OTC
12polyamine metabolic processGO:00065959.6ASL, ASS1, OTC
13cellular nitrogen compound metabolic processGO:00346419.5ASL, ASS1, OTC
14leukocyte migrationGO:00509009.2SLC3A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
15transportGO:00068109.1SLC7A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
16amino acid transmembrane transportGO:00033339.1SLC3A1, SLC7A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
17blood coagulationGO:00075968.9SLC3A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
18amino acid transportGO:00068658.8SLC3A1, SLC3A2, SLC7A2, SLC7A5, SLC7A6, SLC7A7
19ion transportGO:00068118.6SLC3A1, SLC3A2, SLC7A2, SLC7A5, SLC7A6, SLC7A7
20transmembrane transportGO:00550858.5SLC3A1, SLC3A2, SLC7A2, SLC7A5, SLC7A6, SLC7A7
21cellular amino acid metabolic processGO:00065208.2OTC, SLC3A1, SLC7A2, SLC7A5, SLC7A6, SLC7A7

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cation bindingGO:004316910.2SLC3A1, SLC3A2
2basic amino acid transmembrane transporter activityGO:00151749.9SLC3A1, SLC7A2, SLC7A7
3peptide antigen bindingGO:00426059.8SLC7A5, SLC7A8
4neutral amino acid transmembrane transporter activityGO:00151759.7SLC3A2, SLC7A5, SLC7A8
5L-amino acid transmembrane transporter activityGO:00151799.7SLC7A5, SLC7A6, SLC7A7, SLC7A8
6amino acid bindingGO:00165979.6ASS1, OTC
7antiporter activityGO:00152979.0SLC7A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
8amino acid transmembrane transporter activityGO:00151718.9SLC3A1, SLC7A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8

Sources for Lysinuric Protein Intolerance

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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