MCID: LYS003
MIFTS: 52

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 hyperdibasic aminoaciduria type 1 and prostate cancer, 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 skin.

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 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 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

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, Skin, Skeletal muscle, Bone, Liver, B cells

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 141)
idTitleAuthorsYear
1
Targeting DNA-PKcs increased anticancer drug sensitivity by suppressing DNA damage repair in osteosarcoma cell line MG63. (26108997)
2015
2
Molecular recognition of PTS-1 cargo proteins by Pex5p: implications for protein mistargeting in primary hyperoxaluria. (25689234)
2015
3
Usefulness of Conventional and Tissue Doppler Echocardiography to Predict Congestive Heart Failure in Dogs with Myxomatous Mitral Valve Disease. (25270196)
2014
4
BDNF and Artemin are increased in drug-naA^ve non-depressed GAD patients: preliminary data. (24994477)
2014
5
Impact of speed and magnitude of weight loss on the development of brain trophic changes in adolescents with anorexia nervosa: a case control study. (23418915)
2013
6
Executive functioning in individuals with schizophrenia and/or cocaine dependence. (23166052)
2013
7
Converging Evidence for Epistasis between ANK3 and Potassium Channel Gene KCNQ2 in Bipolar Disorder. (23730306)
2013
8
Retrograde intrarenal surgery in treatment of nephrolithiasis: is a 100% stone-free rate achievable? (22142335)
2012
9
Low or high fractionation dose I^-radiotherapy for pterygium? A randomized clinical trial. (21596485)
2012
10
Proteomic profiling of androgen-independent prostate cancer cell lines reveals a role for protein S during the development of high grade and castration-resistant prostate cancer. (22908226)
2012
11
Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia. (22481068)
2012
12
Association between serum soluble TNFI+ receptors and renal dysfunction in type 2 diabetic patients without proteinuria. (21288590)
2011
13
Thromboxane receptor signaling is required for fibronectin-induced matrix metalloproteinase 9 production by human and murine macrophages and is attenuated by the Arhgef1 molecule. (22086927)
2011
14
Case of the month #171: osteogenesis imperfecta of the temporal bone. (22018338)
2011
15
Endogenous transforming growth factor (TGF) beta1 promotes differentiation of smooth muscle cells from embryonic stem cells: stable plasmid-based siRNA silencing of TGF beta1 gene expression. (19784879)
2010
16
Is there a clear threshold for fasting plasma glucose that differentiates between those with and without neuropathy and chronic kidney disease?: the Singapore Prospective Study Program. (19406920)
2009
17
The impact of urban environment on oxidative damage (TBARS) and antioxidant systems in lungs and liver of great tits, Parus major. (19054507)
2009
18
DNA-binding activity of NF-kappaB and phosphorylation of p65 are induced by N-acetylcysteine through phosphatidylinositol (PI) 3-kinase. (18657320)
2008
19
Dubin-Johnson syndrome. (18460254)
2008
20
Anti-inflammatory activity of chondroitin sulfate. (18667340)
2008
21
Okihiro syndrome : Duane's syndrome and radial malformations of the limbs]. (18299846)
2008
22
Macrophage migration inhibitory factor does not modulate co-activation of androgen receptor by Jab1/CSN5. (17786542)
2008
23
Is it just paraoxonase 1 or are other members of the paraoxonase gene family implicated in atherosclerosis? (18607188)
2008
24
Imaging CFTR in its native environment. (18057957)
2008
25
Bmp4 is required for tracheal formation: a novel mouse model for tracheal agenesis. (18692041)
2008
26
INO-1001, a novel inhibitor of poly(ADP-ribose) polymerase, enhances tumor response to doxorubicin. (17628743)
2008
27
Prevalence of ETV6-RUNX1 fusion gene in children with acute lymphoblastic leukemia in China. (17889709)
2007
28
Heparin-mimicking sulfonic acid polymers as multitarget inhibitors of human immunodeficiency virus type 1 Tat and gp120 proteins. (17452490)
2007
29
Overexpression of the antiapoptotic gene Bfl-1 in B cells from patients with familial systemic lupus erythematosus. (17402365)
2007
30
Relative effects of phenolic constituents from Yucca schidigera Roezl. bark on Kaposi's sarcoma cell proliferation, migration, and PAF synthesis. (16580641)
2006
31
Nonclassic 21-hydroxylase deficiency in Croatia. (15055349)
2004
32
Interferon alpha--a potential link in the pathogenesis of viral-induced type 1 diabetes and autoimmunity. (15183143)
2004
33
Recruitment of focal adhesion kinase and paxillin to beta1 integrin promotes cancer cell migration via mitogen activated protein kinase activation. (15132756)
2004
34
SNPs in the promoter of a B cell-specific antisense transcript, SAS- ZFAT, determine susceptibility to autoimmune thyroid disease. (15294872)
2004
35
Linkage analysis of X-linked nuclear protein gene in Smith-Fineman-Myers syndrome]. (11836680)
2002
36
The metabolic and bone density effects of continuous combined 17-beta estradiol and noresthisterone acetate treatments in Thai postmenopausal women: a double-blind placebo-controlled trial. (11281499)
2001
37
Management and outcome of cataract surgery in ocular cicatricial pemphigoid. (10766278)
2000
38
The relationship between facial annular erythema and anti-SS-A/Ro antibodies in three East Asian women. (10215784)
1999
39
Single-nucleotide polymorphisms can cause different structural folds of mRNA. (10393914)
1999
40
Pachyonychia congenita with steatocystoma multiplex. A report of two cases and a discussion of the classification. (9649680)
1998
41
Chromosomal localization of the human ECT2 proto-oncogene to 3q26.1-->q26.2 by somatic cell analysis and fluorescence in situ hybridization. (7665179)
1995
42
Studies on the induction of apoptosis in WEHI 231 cells by pharmacological agents and lipid mediators. Sphingosine and ceramide induce apoptosis in WEHI 231. (17180022)
1994
43
Neurotoxicity of acute and repeated treatments of tabun, paraoxon, diisopropyl fluorophosphate and isofenphos to the hen. (1566275)
1992
44
Camptodactyly simulating claw hand in a patient with indeterminate leprosy. (1783793)
1991
45
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency. (6112081)
1981
46
Bilateral granular cell myoblastoma of the lip: report of case. (4359605)
1973
47
The familial nephrotic syndrome. II. A clinicopathological study. (4206018)
1973
48
Transureteroureterostomy in the management of distal ureteral disease. (5047409)
1972
49
Sickle-cell trait and splenic infarction associated with high-altitude flying. (13194086)
1954
50
Lutembacher's syndrome associated with subacute bacterial endocarditis; report of a case. (18108080)
1949

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