MCID: LYS003
MIFTS: 49

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 49 10 11 21 45 22 23 47 12 51 67 24 65
Lpi 10 45 22 23 51 67
Hyperdibasic Aminoaciduria 10 23
Dibasic Amino Aciduria Ii 10 67
Cationic Aminoaciduria 21 22
 
Lpi - Lysinuric Protein Intolerance 23
Hyperdibasic Aminoaciduria Type 2 51
Dibasicamino Aciduria Ii 45
Dibasic Aminoaciduria 2 45
Congenital Lysinuria 23

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
lysinuric protein intolerance:
Onset and clinical course: phenotypic variability, infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 222700
Disease Ontology10 DOID:0060439
ICD1027 E72.3
Orphanet51 470
ICD10 via Orphanet28 E72.0
UMLS via Orphanet66 C0268647
MedGen34 C0268647
UMLS65 C0268647

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 orotic aciduria and cystinuria, and has symptoms including hemophagocytosis, sparse hair and alveolar proteinosis. 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 liver.

Disease Ontology:10 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: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.

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...

Wikipedia:68 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 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 hemophagocytosis HP:0012156
2 sparse hair HP:0008070
3 alveolar proteinosis HP:0006517
4 malnutrition HP:0004395
5 short stature HP:0004322
6 stage 5 chronic kidney disease HP:0003774
7 aminoaciduria HP:0003355
8 increased serum ferritin HP:0003281
9 oroticaciduria HP:0003218
10 skeletal muscle atrophy HP:0003202
11 delayed skeletal maturation HP:0002750
12 hepatomegaly HP:0002240
13 fine hair HP:0002213
14 respiratory insufficiency HP:0002093
15 nausea HP:0002018
16 diarrhea HP:0002014
17 vomiting HP:0002013
18 hyperammonemia HP:0001987
19 truncal obesity HP:0001956
20 anemia HP:0001903
21 leukopenia HP:0001882
22 thrombocytopenia HP:0001873
23 splenomegaly HP:0001744
24 pancreatitis HP:0001733
25 failure to thrive HP:0001508
26 muscle weakness HP:0001324
27 muscular hypotonia HP:0001252
28 hyperextensible skin HP:0000974
29 cutis laxa HP:0000973
30 osteoporosis HP:0000939
31 psychotic episodes HP:0000725

UMLS symptoms related to Lysinuric Protein Intolerance:


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

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 SLC7A7

Anatomical Context for Lysinuric Protein Intolerance

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MalaCards organs/tissues related to Lysinuric Protein Intolerance:

33
Kidney, Lung, Liver, Skin, Heart, Skeletal muscle, Prostate

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 143)
idTitleAuthorsYear
1
Clinical and genetic features of Japanese patients with lysinuric protein intolerance. (26865117)
2016
2
Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature. (25614305)
2015
3
Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance. (23358709)
2013
4
Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance. (23430827)
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
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods. (8564125)
1996
35
Immunological abnormality in patients with lysinuric protein intolerance. (8747863)
1995
36
Lysinuric protein intolerance in pregnancy: case report with successful outcome. (7726656)
1995
37
Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of four pediatric patients. (8163273)
1994
38
Lysinuric Protein Intolerance (20301535)
1993
39
A difficult diagnosis of lysinuric protein intolerance: association with glucose-6-phosphate dehydrogenase deficiency. (1779632)
1991
40
Carnitine deficiency in lysinuric protein intolerance: lysine-sparing effect of carnitine. (3126568)
1987
41
Lysinuric protein intolerance mutation is expressed in the plasma membrane of cultured skin fibroblasts. (3478720)
1987
42
Lysinuric protein intolerance: a rare cause of childhood osteoporosis. (3083306)
1986
43
Growth hormone studies in lysinuric protein intolerance. (6428892)
1984
44
Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates. (7254935)
1981
45
Ferritinemia with subnormal iron stores in lysinuric protein intolerance. (6780751)
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 pathwaysScoreTop Affiliating Genes
18.2SLC3A1, SLC3A2, SLC7A7, SLC7A8
28.0SLC3A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
3
Show member pathways
8.0SLC3A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
4
Show member pathways
8.0SLC3A2, 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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Biological processes related to Lysinuric Protein Intolerance according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1amino acid transportGO:000686510.2SLC7A6, SLC7A7
2L-alpha-amino acid transmembrane transportGO:19024759.5SLC7A5, SLC7A6, SLC7A8
3L-amino acid transportGO:00158079.1SLC7A5, SLC7A6, SLC7A7, SLC7A8
4cellular amino acid metabolic processGO:00065209.1SLC7A2, SLC7A8
5leukocyte migrationGO:00509008.6SLC7A6, SLC7A7, SLC7A8
6transportGO:00068107.9SLC7A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
7transmembrane transportGO:00550857.6SLC3A1, SLC7A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
8ion transportGO:00068117.6SLC3A1, SLC3A2, SLC7A2, SLC7A5, SLC7A8

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

idNameGO IDScoreTop Affiliating Genes
1antiporter activityGO:00152979.5SLC7A2, SLC7A5
2amino acid transmembrane transporter activityGO:00151719.0SLC3A1, SLC7A2

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