LPI
MCID: LYS003
MIFTS: 52

Lysinuric Protein Intolerance (LPI) 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 52 11 23 48 24 25 54 70 27 12 50 39 13 68
Lpi 11 48 24 25 54 70
Hyperdibasic Aminoaciduria 11 25
Dibasic Amino Aciduria Ii 11 70
Cationic Aminoaciduria 23 24
 
Lpi - Lysinuric Protein Intolerance 25
Hyperdibasic Aminoaciduria Type 2 54
Dibasicamino Aciduria Ii 48
Dibasic Aminoaciduria 2 48
Congenital Lysinuria 25

Characteristics:

Orphanet epidemiological data:

54
lysinuric protein intolerance:
Prevalence: 1-9/100000 (Italy),1-9/100000 (Finland); Age of onset: Infancy,Neonatal

HPO:

64
lysinuric protein intolerance:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, phenotypic variability

Classifications:



External Ids:

OMIM52 222700
Disease Ontology11 DOID:0060439
NCIt45 C121563
Orphanet54 ORPHA470
ICD10 via Orphanet31 E72.0
UMLS via Orphanet69 C0268647
MedGen37 C0268647

Summaries for Lysinuric Protein Intolerance

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NIH Rare Diseases:48 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 dibasic amino aciduria i and osteoporosis, and has symptoms including diarrhea, diarrhea and nausea. An important gene associated with Lysinuric Protein Intolerance is SLC7A7 (Solute Carrier Family 7 Member 7), and among its related pathways are Arginine biosynthesis and Alanine, aspartate and glutamate metabolism. Affiliated tissues include kidney, lung and skin, and related mouse phenotype immune system.

UniProtKB/Swiss-Prot:70 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:25 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:52 Lysinuric protein intolerance is caused by defective cationic amino acid (CAA) transport at the basolateral membrane of... (222700) more...

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 has material basis in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11.

Wikipedia:71 Lysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria type 2,cationic... more...

GeneReviews 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 & Phenotypes for Lysinuric Protein Intolerance

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Symptoms by clinical synopsis from OMIM:

222700

Clinical features from OMIM:

222700

Human phenotypes related to Lysinuric Protein Intolerance:

 64 (show all 31)
id Description HPO Frequency HPO Source Accession
1 psychotic episodes64 HP:0000725
2 osteoporosis64 HP:0000939
3 cutis laxa64 HP:0000973
4 hyperextensible skin64 HP:0000974
5 muscular hypotonia64 HP:0001252
6 muscle weakness64 HP:0001324
7 failure to thrive64 HP:0001508
8 pancreatitis64 HP:0001733
9 splenomegaly64 HP:0001744
10 thrombocytopenia64 HP:0001873
11 leukopenia64 HP:0001882
12 anemia64 HP:0001903
13 truncal obesity64 HP:0001956
14 hyperammonemia64 HP:0001987
15 vomiting64 HP:0002013
16 diarrhea64 HP:0002014
17 nausea64 HP:0002018
18 respiratory insufficiency64 HP:0002093
19 fine hair64 HP:0002213
20 hepatomegaly64 HP:0002240
21 delayed skeletal maturation64 HP:0002750
22 skeletal muscle atrophy64 HP:0003202
23 oroticaciduria64 HP:0003218
24 increased serum ferritin64 HP:0003281
25 aminoaciduria64 HP:0003355
26 stage 5 chronic kidney disease64 HP:0003774
27 short stature64 HP:0004322
28 malnutrition64 HP:0004395
29 alveolar proteinosis64 HP:0006517
30 sparse hair64 HP:0008070
31 hemophagocytosis64 HP:0012156

UMLS symptoms related to Lysinuric Protein Intolerance:


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

MGI Mouse Phenotypes related to Lysinuric Protein Intolerance according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.3ASL, ASS1, SLC3A1, SLC3A2, SLC7A2, SLC7A7

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 Intolerance27 24 SLC7A7

Anatomical Context for Lysinuric Protein Intolerance

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MalaCards organs/tissues related to Lysinuric Protein Intolerance:

36
Kidney, Lung, Skin, Skeletal muscle, Bone marrow, T cells, Liver

Publications for Lysinuric Protein Intolerance

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Articles related to Lysinuric Protein Intolerance:

(show top 50)    (show all 151)
idTitleAuthorsYear
1
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood. (28057010)
2017
2
Renal involvement in Lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions. (28087478)
2017
3
Clinical and genetic features of Japanese patients with lysinuric protein intolerance. (26865117)
2016
4
Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy. (27567650)
2016
5
Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI). (27506743)
2016
6
Unusual association between lysinuric protein intolerance and moyamoya vasculopathy. (27321952)
2016
7
Biochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance. (28028301)
2016
8
Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance. (27783330)
2016
9
Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance. (26608393)
2015
10
Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature. (25614305)
2015
11
Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature. (25842048)
2015
12
1471 delTTCT a Common Mutation of Tunisian Patients with Lysinuric Protein Intolerance. (26882824)
2015
13
Fanconi syndrome with lysinuric protein intolerance. (25859380)
2014
14
Lysinuric Protein Intolerance Presenting with Multiple Fractures. (25419514)
2014
15
Lung involvement in children with lysinuric protein intolerance. (25335805)
2014
16
Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance. (23542076)
2013
17
Lysinuric protein intolerance can be misdiagnosed as food protein-induced enterocolitis syndrome. (23772603)
2013
18
Pregnancy delivery and puerperium in a patient with lysinuric protein intolerance--a case report. (24032281)
2013
19
Interactions of y+LAT1 and 4F2hc in the y+l amino acid transporter complex: consequences of lysinuric protein intolerance-causing mutations. (23940088)
2013
20
Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance. (23358709)
2013
21
Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance. (24142278)
2013
22
Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI). (22221392)
2012
23
The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence. (22876067)
2012
24
Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance. (22325938)
2012
25
Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder. (22402328)
2012
26
Early-onset hepatic fibrosis in lysinuric protein intolerance. (21716135)
2011
27
First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance. (23430825)
2011
28
Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance. (23430827)
2011
29
Lysinuric protein intolerance: reviewing concepts on a multisystem disease. (21308987)
2011
30
Combined hyperlipidemia in patients with lysinuric protein intolerance. (20177788)
2010
31
Breast milk and gene delivery: is lysinuric protein intolerance an exemplar? (20674423)
2010
32
In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages. (21110863)
2010
33
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. (18716612)
2009
34
SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance. (20030831)
2009
35
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. (18846669)
2008
36
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. (18846668)
2008
37
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. (18846671)
2008
38
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. (18846672)
2008
39
Carnitine deficiency and L-carnitine supplementation in lysinuric protein intolerance. (18328359)
2008
40
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. (17764084)
2008
41
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. (18846670)
2008
42
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. (18846673)
2008
43
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. (17376816)
2007
44
Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance. (17517249)
2007
45
Lysinuric protein intolerance: one gene, many problems. (17475666)
2007
46
Haemophagocytosis by myeloid precursors in lysinuric protein intolerance. (17474972)
2007
47
Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7. (17196863)
2007
48
First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis. (17666782)
2007
49
Nutrient intake in lysinuric protein intolerance. (17588131)
2007
50
Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance. (17530437)
2007

Variations for Lysinuric Protein Intolerance

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

70 (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)SNVLikely pathogenicrs386833792GRCh37Chr 14, 23282594: 23282594
2SLC7A7NM_ 001126105.2(SLC7A7): c.158C> T (p.Ser53Leu)SNVLikely 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)SNVLikely 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)SNVLikely 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)SNVLikely 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)SNVLikely 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)SNVLikely 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)SNVLikely pathogenicrs386833807GRCh37Chr 14, 23243169: 23243169
17SLC7A7NM_ 001126105.2(SLC7A7): c.1417C> T (p.Arg473Ter)SNVLikely 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)SNVLikely pathogenicrs386833810GRCh37Chr 14, 23242890: 23242890
20SLC7A7NM_ 001126105.2(SLC7A7): c.149T> A (p.Met50Lys)SNVLikely 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)SNVLikely pathogenicrs386833814GRCh37Chr 14, 23282237: 23282237
24SLC7A7NM_ 001126105.2(SLC7A7): c.418G> C (p.Ala140Pro)SNVLikely pathogenicrs386833815GRCh37Chr 14, 23282190: 23282190
25SLC7A7NM_ 001126105.2(SLC7A7): c.454T> C (p.Phe152Leu)SNVLikely pathogenicrs386833816GRCh37Chr 14, 23282154: 23282154
26SLC7A7NM_ 001126105.2(SLC7A7): c.499+1G> ASNVLikely 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)SNVLikely pathogenicrs386833819GRCh37Chr 14, 23249197: 23249197
29SLC7A7NM_ 001126105.2(SLC7A7): c.571A> G (p.Lys191Glu)SNVLikely pathogenicrs386833820GRCh37Chr 14, 23249189: 23249189
30SLC7A7NM_ 001126105.2(SLC7A7): c.622C> T (p.Gln208Ter)SNVLikely pathogenicrs386833821GRCh37Chr 14, 23249138: 23249138
31SLC7A7NM_ 001126105.2(SLC7A7): c.625+1G> ASNVLikely pathogenicrs386833822GRCh37Chr 14, 23249134: 23249134
32SLC7A7NM_ 001126105.2(SLC7A7): c.625+1G> CSNVLikely pathogenicrs386833822GRCh37Chr 14, 23249134: 23249134
33SLC7A7NM_ 001126105.2(SLC7A7): c.713C> T (p.Ser238Phe)SNVLikely pathogenicrs386833823GRCh37Chr 14, 23248059: 23248059
34SLC7A7NM_ 001126105.2(SLC7A7): c.753G> T (p.Glu251Asp)SNVLikely pathogenicrs386833824GRCh37Chr 14, 23248019: 23248019
35SLC7A7NM_ 001126105.2(SLC7A7): c.782T> C (p.Leu261Pro)SNVLikely pathogenicrs386833825GRCh37Chr 14, 23245516: 23245516
36SLC7A7NM_ 001126105.2(SLC7A7): c.820dupT (p.Tyr274Leufs)duplicationLikely pathogenicrs386833826GRCh37Chr 14, 23245478: 23245478
37SLC7A7NM_ 001126105.2(SLC7A7): c.894+1G> TSNVLikely pathogenicrs386833827GRCh37Chr 14, 23245403: 23245403
38SLC7A7NM_ 001126105.2(SLC7A7): c.895-2A> GSNVLikely pathogenicrs146582474GRCh37Chr 14, 23245147: 23245147
39SLC7A7NM_ 001126105.2(SLC7A7): c.998+1G> TSNVLikely pathogenicrs386833828GRCh37Chr 14, 23245041: 23245041
40SLC7A7NM_ 001126105.2(SLC7A7): c.998G> T (p.Arg333Met)SNVLikely pathogenicrs386833829GRCh37Chr 14, 23245042: 23245042
41SLC7A7SLC7A7, IVS6AS, A-T, -2SNVPathogenic
42SLC7A7SLC7A7, 455-BP DEL, NT197deletionPathogenic
43SLC7A7SLC7A7, 4-BP INS, 1384ATCAinsertionPathogenic
44SLC7A7NM_ 001126105.2(SLC7A7): c.1A> C (p.Met1Leu)SNVPathogenicrs121908676GRCh37Chr 14, 23282607: 23282607
45SLC7A7NM_ 001126105.2(SLC7A7): c.1001T> G (p.Leu334Arg)SNVPathogenicrs72552272GRCh37Chr 14, 23244747: 23244747
46SLC7A7SLC7A7, 4-BP DEL, 1005CTTTdeletionPathogenic
47SLC7A7NM_ 001126105.2(SLC7A7): c.161G> T (p.Gly54Val)SNVPathogenicrs121908677GRCh37Chr 14, 23282447: 23282447
48SLC7A7NM_ 001126105.2(SLC7A7): c.1228C> T (p.Arg410Ter)SNVPathogenicrs121908678GRCh37Chr 14, 23243580: 23243580
49SLC7A7SLC7A7, IVS4DS, G-A, +1SNVPathogenic
50SLC7A7NM_ 001126105.2(SLC7A7): c.726G> A (p.Trp242Ter)SNVPathogenicrs121908679GRCh37Chr 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
1
Show member pathways
9.5ASL, ASS1
29.5ASL, ASS1
3
Show member pathways
9.5ASL, ASS1
4
Show member pathways
9.5ASL, ASS1
58.5SLC3A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
6
Show member pathways
8.5SLC3A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
7
Show member pathways
8.5SLC3A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
8
Show member pathways
8.4SLC3A1, SLC3A2, SLC7A7, SLC7A8
9
Show member pathways
7.0SLC3A1, SLC3A2, SLC7A2, SLC7A5, SLC7A6, SLC7A7
10
Show member pathways
7.0SLC3A1, 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:001632310.1SLC7A6, SLC7A7, SLC7A8
2integral component of plasma membraneGO:00058878.3SLC3A1, SLC7A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
3extracellular exosomeGO:00700628.2ASL, ASS1, SLC3A1, SLC3A2, SLC7A5, SLC7A8
4plasma membraneGO:00058867.0SLC3A1, SLC3A2, SLC7A2, SLC7A5, SLC7A6, SLC7A7

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1neutral amino acid transportGO:001580410.3SLC7A5, SLC7A8
2arginine biosynthetic processGO:000652610.3ASL, ASS1
3cellular amino acid biosynthetic processGO:000865210.3ASL, ASS1
4amino acid transmembrane transportGO:000333310.3SLC7A2, SLC7A7
5tryptophan catabolic processGO:00065699.9SLC3A2, SLC7A5
6L-amino acid transportGO:00158079.7SLC7A5, SLC7A6, SLC7A7, SLC7A8
7urea cycleGO:00000509.5ASL, ASS1
8basic amino acid transmembrane transportGO:19908229.5SLC3A1, SLC7A2, SLC7A7
9L-alpha-amino acid transmembrane transportGO:19024759.2SLC3A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
10leukocyte migrationGO:00509009.2SLC3A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
11cellular amino acid metabolic processGO:00065208.2SLC3A1, SLC7A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8
12amino acid transportGO:00068657.8SLC3A1, SLC3A2, SLC7A2, SLC7A5, SLC7A6, SLC7A7
13transportGO:00068107.4SLC3A1, 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:00426059.6SLC7A5, SLC7A8
2antiporter activityGO:00152979.5SLC7A5, SLC7A6, SLC7A7, SLC7A8
3neutral amino acid transmembrane transporter activityGO:00151759.5SLC3A2, SLC7A5, SLC7A8
4L-amino acid transmembrane transporter activityGO:00151799.4SLC7A5, SLC7A6, SLC7A7, SLC7A8
5basic amino acid transmembrane transporter activityGO:00151749.3SLC3A1, SLC7A2, SLC7A7
6catalytic activityGO:00038249.1ASL, SLC3A1, SLC3A2
7amino acid transmembrane transporter activityGO:00151718.1SLC3A1, SLC7A2, SLC7A5, SLC7A6, SLC7A7, SLC7A8

Sources for Lysinuric Protein Intolerance

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet