MCID: LYS003
MIFTS: 51

Lysinuric Protein Intolerance malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Lysinuric Protein Intolerance

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Aliases & Descriptions for Lysinuric Protein Intolerance:

Name: Lysinuric Protein Intolerance 50 11 22 46 23 24 13 52 68 25 12 48 37 66
Lpi 11 46 23 24 52 68
Hyperdibasic Aminoaciduria 11 24
Dibasic Amino Aciduria Ii 11 68
Cationic Aminoaciduria 22 23
 
Lpi - Lysinuric Protein Intolerance 24
Hyperdibasic Aminoaciduria Type 2 52
Dibasicamino Aciduria Ii 46
Dibasic Aminoaciduria 2 46
Congenital Lysinuria 24

Characteristics:

Orphanet epidemiological data:

52
lysinuric protein intolerance:
Prevalence: 1-9/100000 (Italy),1-9/100000 (Finland); Age of onset: Infancy,Neonatal

HPO:

62
lysinuric protein intolerance:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, phenotypic variability


Classifications:



External Ids:

OMIM50 222700
Disease Ontology11 DOID:0060439
NCIt43 C121563
Orphanet52 ORPHA470
ICD10 via Orphanet29 E72.0
UMLS via Orphanet67 C0268647
MedGen35 C0268647

Summaries for Lysinuric Protein Intolerance

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NIH Rare Diseases:46 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 orotic aciduria and cystinuria, and has symptoms including diarrhea, diarrhea and hepatomegaly. An important gene associated with Lysinuric Protein Intolerance is SLC7A7 (Solute Carrier Family 7 Member 7), and among its related pathways are Protein digestion and absorption and Basigin interactions. Affiliated tissues include kidney, lung and skin.

Disease Ontology:11 An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. it is caused by homozygous or compound heterozygous mutation in the amino acid transporter gene slc7a7 on chromosome 14q11.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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:50 Lysinuric protein intolerance is caused by defective cationic amino acid (CAA) transport at the basolateral membrane of... (222700) more...

Wikipedia:69 Lysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria type 2,cationic... more...

GeneReviews summary for NBK1361

Related Diseases for Lysinuric Protein Intolerance

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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 31)
id Description Frequency HPO Source Accession
1 psychotic episodes HP:0000725
2 osteoporosis HP:0000939
3 cutis laxa HP:0000973
4 hyperextensible skin HP:0000974
5 muscular hypotonia HP:0001252
6 muscle weakness HP:0001324
7 failure to thrive HP:0001508
8 pancreatitis HP:0001733
9 splenomegaly HP:0001744
10 thrombocytopenia HP:0001873
11 leukopenia HP:0001882
12 anemia HP:0001903
13 truncal obesity HP:0001956
14 hyperammonemia HP:0001987
15 vomiting HP:0002013
16 diarrhea HP:0002014
17 nausea HP:0002018
18 respiratory insufficiency HP:0002093
19 fine hair HP:0002213
20 hepatomegaly HP:0002240
21 delayed skeletal maturation HP:0002750
22 skeletal muscle atrophy HP:0003202
23 oroticaciduria HP:0003218
24 increased serum ferritin HP:0003281
25 aminoaciduria HP:0003355
26 stage 5 chronic kidney disease HP:0003774
27 short stature HP:0004322
28 malnutrition HP:0004395
29 alveolar proteinosis HP:0006517
30 sparse hair HP:0008070
31 hemophagocytosis HP:0012156

UMLS symptoms related to Lysinuric Protein Intolerance:


diarrhea, hepatomegaly, nausea, vomiting, muscle weakness, thin, sparse hair

Drugs & Therapeutics for Lysinuric Protein Intolerance

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Lysinuric Protein Intolerance


Cochrane evidence based reviews: 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 Intolerance25 23 SLC7A7

Anatomical Context for Lysinuric Protein Intolerance

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MalaCards organs/tissues related to Lysinuric Protein Intolerance:

34
Kidney, Lung, Skin, Skeletal muscle, Bone marrow, T cells, Liver

Animal Models for Lysinuric Protein Intolerance or affiliated genes

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Publications for Lysinuric Protein Intolerance

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Articles related to Lysinuric Protein Intolerance:

(show top 50)    (show all 146)
idTitleAuthorsYear
1
Clinical and genetic features of Japanese patients with lysinuric protein intolerance. (26865117)
2016
2
Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI). (27506743)
2016
3
Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature. (25614305)
2015
4
Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance. (26608393)
2015
5
Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance. (23542076)
2013
6
Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance. (22325938)
2012
7
Lysinuric protein intolerance: reviewing concepts on a multisystem disease. (21308987)
2011
8
Early-onset hepatic fibrosis in lysinuric protein intolerance. (21716135)
2011
9
In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages. (21110863)
2010
10
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. (18716612)
2009
11
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. (18846670)
2008
12
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. (18846668)
2008
13
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. (18846669)
2008
14
Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance. (17517249)
2007
15
Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7. (17196863)
2007
16
Lysinuric protein intolerance: one gene, many problems. (17475666)
2007
17
Nutrient intake in lysinuric protein intolerance. (17588131)
2007
18
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. (17376816)
2007
19
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. (15776427)
2005
20
A historical aspect of lysinuric protein intolerance in a northern part of Iwate, Japan. (12713148)
2003
21
Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance. (12870174)
2003
22
Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. (12402335)
2002
23
Hypocarnitinemia in lysinuric protein intolerance. (12175786)
2002
24
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. (10737982)
2000
25
Effect of lysine infusion on urea cycle in lysinuric protein intolerance. (10831173)
2000
26
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. (10631139)
2000
27
Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance. (10764208)
2000
28
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. (10080183)
1999
29
Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance. (9931537)
1999
30
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family. (10610726)
1999
31
Lysinuric protein intolerance masquerading as celiac disease: a case report. (9470018)
1998
32
Complications of lysinuric protein intolerance must be treated with immunosuppressive drugs. (9762605)
1998
33
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
34
Genetic homogeneity of lysinuric protein intolerance. (9887380)
1998
35
Intravenous immune globulin in lysinuric protein intolerance. (9584260)
1998
36
Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. (9199570)
1997
37
Necropsy findings in lysinuric protein intolerance. (8655715)
1996
38
Immunological abnormality in patients with lysinuric protein intolerance. (8747863)
1995
39
Lysinuric protein intolerance. Urinary amino acid excretion at 2 and 9 days of age. (7967486)
1994
40
Carnitine deficiency in lysinuric protein intolerance: lysine-sparing effect of carnitine. (3126568)
1987
41
Immunological abnormalities in a patient with lysinuric protein intolerance. (2443354)
1987
42
Lysinuric protein intolerance: a rare cause of childhood osteoporosis. (3083306)
1986
43
Oral administration of epsilon N-acetyllysine and homocitrulline in lysinuric protein intolerance. (6402575)
1983
44
Lysinuric protein intolerance. Basolateral transport defect in renal tubuli. (7204568)
1981
45
Changes in peripheral blood cells and serum ferritin in lysinuric protein intolerance. (6782826)
1980
46
Lysinuric protein intolerance. (6107616)
1980
47
Lysinuric protein intolerance. (6106816)
1980
48
Lysinuric protein intolerance. (869490)
1977
49
Prolonged coma and isoelectric electroencephalogram in a child with lysinuric protein intolerance. (874670)
1977
50
Renal handling of diamino acids in lysinuric protein intolerance. (4600043)
1974

Variations for Lysinuric Protein Intolerance

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UniProtKB/Swiss-Prot genetic disease variations for Lysinuric Protein Intolerance:

68 (show all 18)
id Symbol AA change Variation ID SNP ID
1SLC7A7p.Gly54ValVAR_010261rs121908677
2SLC7A7p.Leu334ArgVAR_010262rs72552272
3SLC7A7p.Gly338AspVAR_010999rs386833795
4SLC7A7p.Ser386ArgVAR_011000rs386833799
5SLC7A7p.Met50LysVAR_030595rs386833811
6SLC7A7p.Thr188IleVAR_030596rs386833819
7SLC7A7p.Ser238PheVAR_030597rs386833823
8SLC7A7p.Arg333MetVAR_030598rs386833829
9SLC7A7p.Ser489ProVAR_030599rs386833810
10SLC7A7p.Thr5IleVAR_039092rs386833792
11SLC7A7p.Ser53LeuVAR_039094rs386833793
12SLC7A7p.Leu124ProVAR_039096rs386833814
13SLC7A7p.Ala140ProVAR_039097rs386833815
14SLC7A7p.Phe152LeuVAR_039098rs386833816
15SLC7A7p.Lys191GluVAR_039100rs386833820
16SLC7A7p.Glu251AspVAR_039101rs386833824
17SLC7A7p.Leu261ProVAR_039102rs386833825
18SLC7A7p.Asn365TyrVAR_039103rs386833797

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

Copy number variations for Lysinuric Protein Intolerance from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
183873142231227122358854Copy numberSLC7A7Lysinuric protein intolerance

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 pathwaysScoreTop Affiliating Genes
18.5SLC3A1, SLC3A2, SLC7A7, SLC7A8
28.3SLC3A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
3
Show member pathways
8.3SLC3A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
4
Show member pathways
8.3SLC3A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
5
Show member pathways
6.9SLC3A1, 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:00163239.6SLC7A6, SLC7A7, SLC7A8
2integral component of plasma membraneGO:00058877.4SLC3A1, SLC7A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
3plasma membraneGO:00058866.6SLC3A1, SLC3A2, SLC7A2, SLC7A5, SLC7A6, SLC7A7

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1neutral amino acid transportGO:00158049.6SLC3A2, SLC7A5, SLC7A8
2response to toxic substanceGO:00096369.5ASS1, SLC7A8
3L-alpha-amino acid transmembrane transportGO:19024759.4SLC7A5, SLC7A6, SLC7A7, SLC7A8
4basic amino acid transmembrane transportGO:19908229.3SLC3A1, SLC7A2, SLC7A7
5L-amino acid transportGO:00158078.6SLC7A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
6transportGO:00068108.2SLC7A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
7leukocyte migrationGO:00509008.0SLC3A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
8cellular amino acid metabolic processGO:00065207.5SLC3A1, SLC7A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
9amino acid transportGO:00068657.4SLC3A1, SLC3A2, SLC7A2, SLC7A5, SLC7A6, SLC7A7

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1peptide antigen bindingGO:00426059.5SLC7A5, SLC7A8
2neutral amino acid transmembrane transporter activityGO:00151759.4SLC3A2, SLC7A5, SLC7A8
3catalytic activityGO:00038249.3SLC3A1, SLC3A2
4basic amino acid transmembrane transporter activityGO:00151749.1SLC3A1, SLC7A2, SLC7A7
5L-amino acid transmembrane transporter activityGO:00151798.4SLC7A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
6antiporter activityGO:00152978.2SLC7A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
7amino acid transmembrane transporter activityGO:00151718.1SLC3A1, SLC7A2, SLC7A5, SLC7A6, SLC7A8

Sources for Lysinuric Protein Intolerance

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet