LPI
MCID: LYS003
MIFTS: 51

Lysinuric Protein Intolerance (LPI)

Categories: Bone diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Lysinuric Protein Intolerance

MalaCards integrated aliases for Lysinuric Protein Intolerance:

Name: Lysinuric Protein Intolerance 58 12 77 25 54 26 60 76 38 30 13 56 6 45 15 41 74
Lpi 58 12 54 26 60 76
Dibasic Amino Aciduria Ii 58 12 76
Hyperdibasic Aminoaciduria 12 26
Dibasic Aminoaciduria 2 77 54
Lpi - Lysinuric Protein Intolerance 26
Hyperdibasic Aminoaciduria Type 2 60
Dibasicamino Aciduria Ii 54
Congenital Lysinuria 26

Characteristics:

Orphanet epidemiological data:

60
lysinuric protein intolerance
Prevalence: 1-9/100000 (Italy),1-9/100000 (Finland); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in infancy after weaning from being breast-fed
patients look as if they have protein deficiency or malnutrition
incidence in finland is 1 in 76,000 births
incidence in japan is 1 in 57,000


HPO:

33
lysinuric protein intolerance:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Lysinuric Protein Intolerance

NIH Rare Diseases : 54 Lysinuric protein intolerance (LPI) is a genetic condition that is caused by the body's inability to digest the amino acids lysine, arginine, and ornithine. These are some of the building blocks of protein. 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. Symptoms usually develop after infants are weaned and begin to eat solid foods. Without treatment, other signs and symptoms associated with protein intolerance may also occur, including short stature, muscle weakness, impaired immune function, and weak brittle bones (osteoporosis). The most serious symptoms involve the lung, kidney and heart. A lung disorder called pulmonary alveolar proteinosis may develop in some individuals, as canend-stage renal disease, coma andintellectual disability. Lysinuric protein intolerance is caused by mutations in the SLC7A7 gene and is inherited in an autosomal recessive manner.  It is diagnosed based on the symptoms, laboratory and genetic testing. This condition is treated with a modified diet and medications. The long-term outlook depends on the age that LPI is diagnosed and the response to treatment.

MalaCards based summary : Lysinuric Protein Intolerance, also known as lpi, is related to orotic aciduria and cystinuria, and has symptoms including muscle weakness, vomiting and diarrhea. An important gene associated with Lysinuric Protein Intolerance is SLC7A7 (Solute Carrier Family 7 Member 7), and among its related pathways/superpathways are Protein digestion and absorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include kidney, bone and lung, and related phenotypes are psychotic episodes and muscular hypotonia

Disease Ontology : 12 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.

Genetics Home Reference : 26 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 : 58 Lysinuric protein intolerance is caused by defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in kidney and intestine. Metabolic derangement is characterized by increased renal excretion of CAA, reduced CAA absorption from intestine, and orotic aciduria (Borsani et al., 1999). See also dibasic amino aciduria I (222690). (222700)

UniProtKB/Swiss-Prot : 76 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 : 77 Lysinuric protein intolerance (LPI) is an autosomal recessivemetabolic disorder affecting amino acid... more...

GeneReviews: NBK1361

Related Diseases for Lysinuric Protein Intolerance

Graphical network of the top 20 diseases related to Lysinuric Protein Intolerance:



Diseases related to Lysinuric Protein Intolerance

Symptoms & Phenotypes for Lysinuric Protein Intolerance

Human phenotypes related to Lysinuric Protein Intolerance:

33 (show all 36)
# Description HPO Frequency HPO Source Accession
1 psychotic episodes 33 occasional (7.5%) HP:0000725
2 muscular hypotonia 33 HP:0001252
3 muscle weakness 33 HP:0001324
4 failure to thrive 33 HP:0001508
5 respiratory insufficiency 33 HP:0002093
6 splenomegaly 33 HP:0001744
7 hepatomegaly 33 HP:0002240
8 delayed skeletal maturation 33 HP:0002750
9 short stature 33 HP:0004322
10 vomiting 33 HP:0002013
11 aminoaciduria 33 HP:0003355
12 osteoporosis 33 HP:0000939
13 anemia 33 HP:0001903
14 skeletal muscle atrophy 33 HP:0003202
15 thrombocytopenia 33 HP:0001873
16 pancreatitis 33 HP:0001733
17 increased serum lactate 33 HP:0002151
18 coma 33 HP:0001259
19 fine hair 33 HP:0002213
20 recurrent fractures 33 HP:0002757
21 diarrhea 33 HP:0002014
22 hyperammonemia 33 HP:0001987
23 hyperextensible skin 33 HP:0000974
24 sparse hair 33 HP:0008070
25 generalized hypotonia 33 HP:0001290
26 truncal obesity 33 HP:0001956
27 oroticaciduria 33 HP:0003218
28 increased serum ferritin 33 HP:0003281
29 nausea 33 HP:0002018
30 leukopenia 33 HP:0001882
31 stage 5 chronic kidney disease 33 HP:0003774
32 malnutrition 33 HP:0004395
33 cutis laxa 33 HP:0000973
34 alveolar proteinosis 33 HP:0006517
35 pulmonary hemorrhage 33 HP:0040223
36 hemophagocytosis 33 HP:0012156

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
muscle weakness
hypotonia
muscle atrophy

Respiratory Lung:
respiratory insufficiency
alveolar proteinosis
pulmonary hemorrhage
interstitial changes on chest x-ray

Abdomen Liver:
hepatomegaly

Skeletal:
osteoporosis
delayed bone age
frequent fractures

Abdomen Pancreas:
pancreatitis

Skin Nails Hair Hair:
thin, sparse hair

Growth Height:
decreased stature

Neurologic Central Nervous System:
coma may occur after force feeding of high protein diet
mental delay or retardation (uncommon)

Metabolic Features:
postprandial hyperammonemia
hyperammonemic coma

Growth Other:
failure to thrive
centripetal obesity
thin extremities

Abdomen Spleen:
splenomegaly

Abdomen Gastrointestinal:
vomiting
diarrhea
nausea
aversion to protein-rich food
impaired intestinal absorption of cationic amino acids

Hematology:
anemia
thrombocytopenia
leukopenia
bone marrow may show hemophagocytosis

Laboratory Abnormalities:
increased serum ferritin
orotic aciduria
urinary excretion of cationic amino acids (lysine, arginine, ornithine)
decreased blood levels of cationic amino acids
hyperammonemia after protein intake
more
Skin Nails Hair Skin:
hyperelastic skin
loose skin

Genitourinary Kidneys:
chronic renal disease
impaired renal absorption of cationic amino acids

Neurologic Behavioral Psychiatric Manifestations:
psychotic episodes have been rarely reported

Clinical features from OMIM:

222700

UMLS symptoms related to Lysinuric Protein Intolerance:


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

MGI Mouse Phenotypes related to Lysinuric Protein Intolerance:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.1 ASS1 SLC3A1 SLC3A2 SLC7A11 SLC7A2 SLC7A7

Drugs & Therapeutics for Lysinuric Protein Intolerance

Search Clinical Trials , NIH Clinical Center for Lysinuric Protein Intolerance

Cochrane evidence based reviews: lysinuric protein intolerance

Genetic Tests for Lysinuric Protein Intolerance

Genetic tests related to Lysinuric Protein Intolerance:

# Genetic test Affiliating Genes
1 Lysinuric Protein Intolerance 30 SLC7A7

Anatomical Context for Lysinuric Protein Intolerance

MalaCards organs/tissues related to Lysinuric Protein Intolerance:

42
Kidney, Bone, Lung, Heart, Testes, Skin, Breast

Publications for Lysinuric Protein Intolerance

Articles related to Lysinuric Protein Intolerance:

(show top 50) (show all 178)
# Title Authors Year
1
Analysis of LPI-causing mutations on y+LAT1 function and localization. ( 30832686 )
2019
2
LPI-IBNRA: Long Non-coding RNA-Protein Interaction Prediction Based on Improved Bipartite Network Recommender Algorithm. ( 31057602 )
2019
3
[Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases]. ( 31014432 )
2019
4
Abnormal coagulation and enhanced fibrinolysis due to lysinuric protein intolerance associates with bleeds and renal impairment. ( 30070418 )
2018
5
SLC7A7/Y+LAT1, mutated in Lysinuric protein intolerance, has a significant role in regulating the inflammatory status of human macrophages. ( 30761867 )
2018
6
The LPI/GPR55 axis enhances human breast cancer cell migration via HBXIP and p-MLC signaling. ( 29188802 )
2018
7
SFPEL-LPI: Sequence-based feature projection ensemble learning for predicting LncRNA-protein interactions. ( 30533006 )
2018
8
Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance. ( 27783330 )
2017
9
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood. ( 28057010 )
2017
10
Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions. ( 28087478 )
2017
11
New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance. ( 29058386 )
2017
12
Development of model for prediction of Leachate Pollution Index (LPI) in absence of leachate parameters. ( 27473886 )
2017
13
LPI-ETSLP: lncRNA-protein interaction prediction using eigenvalue transformation-based semi-supervised link prediction. ( 28702594 )
2017
14
LPI-NRLMF: lncRNA-protein interaction prediction by neighborhood regularized logistic matrix factorization. ( 29262614 )
2017
15
Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy. ( 27567650 )
2016
16
Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance. ( 26608393 )
2016
17
Clinical and genetic features of lysinuric protein intolerance in Japan. ( 26865117 )
2016
18
Unusual association between lysinuric protein intolerance and moyamoya vasculopathy. ( 27321952 )
2016
19
Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI). ( 27506743 )
2016
20
Biochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance. ( 28028301 )
2016
21
Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI. ( 26122628 )
2016
22
LPI Radar Waveform Recognition Based on Time-Frequency Distribution. ( 27754325 )
2016
23
A Novel Sensor Selection and Power Allocation Algorithm for Multiple-Target Tracking in an LPI Radar Network. ( 28009819 )
2016
24
Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature. ( 25614305 )
2015
25
Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature. ( 25842048 )
2015
26
Lung involvement in children with lysinuric protein intolerance. ( 25335805 )
2015
27
1471 delTTCT a Common Mutation of Tunisian Patients with Lysinuric Protein Intolerance. ( 26882824 )
2015
28
Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature. ( 28649527 )
2015
29
Fanconi syndrome with lysinuric protein intolerance. ( 25859380 )
2014
30
Pregnancy and lactation outcomes in a Turkish patient with lysinuric protein intolerance. ( 24142278 )
2014
31
Lysinuric Protein Intolerance Presenting with Multiple Fractures. ( 25419514 )
2014
32
Regulation of GPR55 in rat white adipose tissue and serum LPI by nutritional status, gestation, gender and pituitary factors. ( 24378736 )
2014
33
Lysinuric protein intolerance can be misdiagnosed as food protein-induced enterocolitis syndrome. ( 23772603 )
2013
34
Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance. ( 23358709 )
2013
35
Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance. ( 23542076 )
2013
36
Interactions of y+LAT1 and 4F2hc in the y+l amino acid transporter complex: consequences of lysinuric protein intolerance-causing mutations. ( 23940088 )
2013
37
Pregnancy delivery and puerperium in a patient with lysinuric protein intolerance--a case report. ( 24032281 )
2013
38
Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI). ( 22221392 )
2012
39
Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance. ( 22325938 )
2012
40
Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder. ( 22402328 )
2012
41
The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence. ( 22876067 )
2012
42
Lysinuric protein intolerance: reviewing concepts on a multisystem disease. ( 21308987 )
2011
43
Early-onset hepatic fibrosis in lysinuric protein intolerance. ( 21716135 )
2011
44
First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance. ( 23430825 )
2011
45
Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance. ( 23430827 )
2011
46
Walking motion generation, synthesis, and control for biped robot by using PGRL, LPI, and fuzzy logic. ( 21095871 )
2011
47
Reply to Yip et al: The potential complications from intraocular surgery, though, are greater than those from LPI. ( 21109775 )
2011
48
Membrane protein digestion - comparison of LPI HexaLane with traditional techniques. ( 21604120 )
2011
49
Combined hyperlipidemia in patients with lysinuric protein intolerance. ( 20177788 )
2010
50
Breast milk and gene delivery: is lysinuric protein intolerance an exemplar? ( 20674423 )
2010

Variations for Lysinuric Protein Intolerance

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

76 (show all 18)
# Symbol AA change Variation ID SNP ID
1 SLC7A7 p.Gly54Val VAR_010261 rs121908677
2 SLC7A7 p.Leu334Arg VAR_010262 rs72552272
3 SLC7A7 p.Gly338Asp VAR_010999 rs386833795
4 SLC7A7 p.Ser386Arg VAR_011000 rs386833799
5 SLC7A7 p.Met50Lys VAR_030595 rs386833811
6 SLC7A7 p.Thr188Ile VAR_030596 rs386833819
7 SLC7A7 p.Ser238Phe VAR_030597 rs386833823
8 SLC7A7 p.Arg333Met VAR_030598 rs386833829
9 SLC7A7 p.Ser489Pro VAR_030599 rs386833810
10 SLC7A7 p.Thr5Ile VAR_039092 rs386833792
11 SLC7A7 p.Ser53Leu VAR_039094 rs386833793
12 SLC7A7 p.Leu124Pro VAR_039096 rs386833814
13 SLC7A7 p.Ala140Pro VAR_039097 rs386833815
14 SLC7A7 p.Phe152Leu VAR_039098 rs386833816
15 SLC7A7 p.Lys191Glu VAR_039100 rs386833820
16 SLC7A7 p.Glu251Asp VAR_039101 rs386833824
17 SLC7A7 p.Leu261Pro VAR_039102 rs386833825
18 SLC7A7 p.Asn365Tyr VAR_039103 rs386833797

ClinVar genetic disease variations for Lysinuric Protein Intolerance:

6 (show top 50) (show all 216)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC7A7 SLC7A7, IVS6AS, A-T, -2 single nucleotide variant Pathogenic
2 SLC7A7 SLC7A7, 455-BP DEL, NT197 deletion Pathogenic
3 SLC7A7 NM_001126105.2(SLC7A7): c.1A> C (p.Met1Leu) single nucleotide variant Pathogenic rs121908676 GRCh37 Chromosome 14, 23282607: 23282607
4 SLC7A7 NM_001126105.2(SLC7A7): c.1A> C (p.Met1Leu) single nucleotide variant Pathogenic rs121908676 GRCh38 Chromosome 14, 22813398: 22813398
5 SLC7A7 NM_001126105.2(SLC7A7): c.1001T> G (p.Leu334Arg) single nucleotide variant Pathogenic rs72552272 GRCh37 Chromosome 14, 23244747: 23244747
6 SLC7A7 NM_001126105.2(SLC7A7): c.1001T> G (p.Leu334Arg) single nucleotide variant Pathogenic rs72552272 GRCh38 Chromosome 14, 22775538: 22775538
7 SLC7A7 NM_001126105.2(SLC7A7): c.161G> T (p.Gly54Val) single nucleotide variant Pathogenic rs121908677 GRCh37 Chromosome 14, 23282447: 23282447
8 SLC7A7 NM_001126105.2(SLC7A7): c.161G> T (p.Gly54Val) single nucleotide variant Pathogenic rs121908677 GRCh38 Chromosome 14, 22813238: 22813238
9 SLC7A7 NM_001126105.2(SLC7A7): c.1228C> T (p.Arg410Ter) single nucleotide variant Pathogenic rs121908678 GRCh37 Chromosome 14, 23243580: 23243580
10 SLC7A7 NM_001126105.2(SLC7A7): c.1228C> T (p.Arg410Ter) single nucleotide variant Pathogenic rs121908678 GRCh38 Chromosome 14, 22774371: 22774371
11 SLC7A7 NM_001126105.2(SLC7A7): c.726G> A (p.Trp242Ter) single nucleotide variant Pathogenic rs121908679 GRCh37 Chromosome 14, 23248046: 23248046
12 SLC7A7 NM_001126105.2(SLC7A7): c.726G> A (p.Trp242Ter) single nucleotide variant Pathogenic rs121908679 GRCh38 Chromosome 14, 22778837: 22778837
13 SLC7A7 SLC7A7, EX6-11, DEL deletion Pathogenic
14 SLC7A7 NM_001126105.2(SLC7A7): c.1344delC (p.Ile449Leufs) deletion Likely pathogenic rs386833803 GRCh37 Chromosome 14, 23243227: 23243227
15 SLC7A7 NM_001126105.2(SLC7A7): c.1344delC (p.Ile449Leufs) deletion Likely pathogenic rs386833803 GRCh38 Chromosome 14, 22774018: 22774018
16 SLC7A7 NM_001126105.2(SLC7A7): c.1371C> A (p.Tyr457Ter) single nucleotide variant Likely pathogenic rs386833804 GRCh37 Chromosome 14, 23243200: 23243200
17 SLC7A7 NM_001126105.2(SLC7A7): c.14C> T (p.Thr5Ile) single nucleotide variant Likely pathogenic rs386833792 GRCh37 Chromosome 14, 23282594: 23282594
18 SLC7A7 NM_001126105.2(SLC7A7): c.14C> T (p.Thr5Ile) single nucleotide variant Likely pathogenic rs386833792 GRCh38 Chromosome 14, 22813385: 22813385
19 SLC7A7 NM_001126105.2(SLC7A7): c.158C> T (p.Ser53Leu) single nucleotide variant Likely pathogenic rs386833793 GRCh37 Chromosome 14, 23282450: 23282450
20 SLC7A7 NM_001126105.2(SLC7A7): c.158C> T (p.Ser53Leu) single nucleotide variant Likely pathogenic rs386833793 GRCh38 Chromosome 14, 22813241: 22813241
21 SLC7A7 NM_001126105.2(SLC7A7): c.1005_1008del (p.Phe335Leufs) deletion Pathogenic/Likely pathogenic rs386833794 GRCh37 Chromosome 14, 23244740: 23244743
22 SLC7A7 NM_001126105.2(SLC7A7): c.1005_1008del (p.Phe335Leufs) deletion Pathogenic/Likely pathogenic rs386833794 GRCh38 Chromosome 14, 22775531: 22775534
23 SLC7A7 NM_001126105.2(SLC7A7): c.1013G> A (p.Gly338Asp) single nucleotide variant Uncertain significance rs386833795 GRCh37 Chromosome 14, 23244735: 23244735
24 SLC7A7 NM_001126105.2(SLC7A7): c.1013G> A (p.Gly338Asp) single nucleotide variant Uncertain significance rs386833795 GRCh38 Chromosome 14, 22775526: 22775526
25 SLC7A7 NM_001126105.2(SLC7A7): c.105_107delGGA (p.Glu36del) deletion Likely pathogenic rs386833796 GRCh37 Chromosome 14, 23282501: 23282503
26 SLC7A7 NM_001126105.2(SLC7A7): c.105_107delGGA (p.Glu36del) deletion Likely pathogenic rs386833796 GRCh38 Chromosome 14, 22813292: 22813294
27 SLC7A7 NM_001126105.2(SLC7A7): c.1093A> T (p.Asn365Tyr) single nucleotide variant Likely pathogenic rs386833797 GRCh37 Chromosome 14, 23244655: 23244655
28 SLC7A7 NM_001126105.2(SLC7A7): c.1093A> T (p.Asn365Tyr) single nucleotide variant Likely pathogenic rs386833797 GRCh38 Chromosome 14, 22775446: 22775446
29 SLC7A7 NM_001126105.2(SLC7A7): c.1147_1151dupAACTA (p.Tyr384Terfs) duplication Likely pathogenic rs386833798 GRCh37 Chromosome 14, 23243657: 23243661
30 SLC7A7 NM_001126105.2(SLC7A7): c.1147_1151dupAACTA (p.Tyr384Terfs) duplication Likely pathogenic rs386833798 GRCh38 Chromosome 14, 22774448: 22774452
31 SLC7A7 NM_001126105.2(SLC7A7): c.1158C> A (p.Ser386Arg) single nucleotide variant Likely pathogenic rs386833799 GRCh37 Chromosome 14, 23243650: 23243650
32 SLC7A7 NM_001126105.2(SLC7A7): c.1158C> A (p.Ser386Arg) single nucleotide variant Likely pathogenic rs386833799 GRCh38 Chromosome 14, 22774441: 22774441
33 SLC7A7 NM_001126105.2(SLC7A7): c.1185_1188delTTCT (p.Ser396Leufs) deletion Pathogenic rs386833800 GRCh37 Chromosome 14, 23243620: 23243623
34 SLC7A7 NM_001126105.2(SLC7A7): c.1185_1188delTTCT (p.Ser396Leufs) deletion Pathogenic rs386833800 GRCh38 Chromosome 14, 22774411: 22774414
35 SLC7A7 NM_001126105.2(SLC7A7): c.1262delC (p.Pro421Argfs) deletion Likely pathogenic rs386833801 GRCh37 Chromosome 14, 23243309: 23243309
36 SLC7A7 NM_001126105.2(SLC7A7): c.1262delC (p.Pro421Argfs) deletion Likely pathogenic rs386833801 GRCh38 Chromosome 14, 22774100: 22774100
37 SLC7A7 NM_001126105.2(SLC7A7): c.1273T> C (p.Cys425Arg) single nucleotide variant Likely pathogenic rs386833802 GRCh37 Chromosome 14, 23243298: 23243298
38 SLC7A7 NM_001126105.2(SLC7A7): c.1273T> C (p.Cys425Arg) single nucleotide variant Likely pathogenic rs386833802 GRCh38 Chromosome 14, 22774089: 22774089
39 SLC7A7 NM_001126105.2(SLC7A7): c.1371C> A (p.Tyr457Ter) single nucleotide variant Likely pathogenic rs386833804 GRCh38 Chromosome 14, 22773991: 22773991
40 SLC7A7 NM_001126105.2(SLC7A7): c.1381_1384dupATCA (p.Arg462Asnfs) duplication Pathogenic/Likely pathogenic rs386833805 GRCh37 Chromosome 14, 23243187: 23243190
41 SLC7A7 NM_001126105.2(SLC7A7): c.1381_1384dupATCA (p.Arg462Asnfs) duplication Pathogenic/Likely pathogenic rs386833805 GRCh38 Chromosome 14, 22773978: 22773981
42 SLC7A7 NM_001126105.2(SLC7A7): c.1387delG (p.Val463Cysfs) deletion Likely pathogenic rs386833806 GRCh37 Chromosome 14, 23243184: 23243184
43 SLC7A7 NM_001126105.2(SLC7A7): c.1387delG (p.Val463Cysfs) deletion Likely pathogenic rs386833806 GRCh38 Chromosome 14, 22773975: 22773975
44 SLC7A7 NM_001126105.2(SLC7A7): c.1402C> T (p.Arg468Ter) single nucleotide variant Likely pathogenic rs386833807 GRCh37 Chromosome 14, 23243169: 23243169
45 SLC7A7 NM_001126105.2(SLC7A7): c.1402C> T (p.Arg468Ter) single nucleotide variant Likely pathogenic rs386833807 GRCh38 Chromosome 14, 22773960: 22773960
46 SLC7A7 NM_001126105.2(SLC7A7): c.1417C> T (p.Arg473Ter) single nucleotide variant Likely pathogenic rs386833808 GRCh37 Chromosome 14, 23243154: 23243154
47 SLC7A7 NM_001126105.2(SLC7A7): c.1417C> T (p.Arg473Ter) single nucleotide variant Likely pathogenic rs386833808 GRCh38 Chromosome 14, 22773945: 22773945
48 SLC7A7 NM_001126105.2(SLC7A7): c.1460delG (p.Cys487Leufs) deletion Likely pathogenic rs386833809 GRCh37 Chromosome 14, 23242895: 23242895
49 SLC7A7 NM_001126105.2(SLC7A7): c.1460delG (p.Cys487Leufs) deletion Likely pathogenic rs386833809 GRCh38 Chromosome 14, 22773686: 22773686
50 SLC7A7 NM_001126105.2(SLC7A7): c.1465T> C (p.Ser489Pro) single nucleotide variant Likely pathogenic rs386833810 GRCh37 Chromosome 14, 23242890: 23242890

Copy number variations for Lysinuric Protein Intolerance from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 83873 14 22312271 22358854 Copy number SLC7A7 Lysinuric protein intolerance

Expression for Lysinuric Protein Intolerance

Search GEO for disease gene expression data for Lysinuric Protein Intolerance.

Pathways for Lysinuric Protein Intolerance

Pathways related to Lysinuric Protein Intolerance according to KEGG:

38
# Name Kegg Source Accession
1 Protein digestion and absorption hsa04974

Pathways related to Lysinuric Protein Intolerance according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 SLC3A1 SLC3A2 SLC7A11 SLC7A2 SLC7A5 SLC7A6
2
Show member pathways
12.88 SLC3A2 SLC7A11 SLC7A5 SLC7A6 SLC7A7 SLC7A8
3
Show member pathways
12.43 SLC3A1 SLC3A2 SLC7A7 SLC7A8
4 12.16 ASS1 SLC3A2 SLC7A11 SLC7A5
5
Show member pathways
11.89 SLC3A2 SLC7A11 SLC7A5 SLC7A6 SLC7A7 SLC7A8
6 11.03 SLC3A2 SLC7A11
7 10.86 SLC3A2 SLC7A11 SLC7A5 SLC7A6 SLC7A7 SLC7A8
8
Show member pathways
10.74 SLC3A1 SLC3A2 SLC7A11 SLC7A2 SLC7A5 SLC7A6

GO Terms for Lysinuric Protein Intolerance

Cellular components related to Lysinuric Protein Intolerance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.97 SLC3A1 SLC3A2 SLC7A11 SLC7A2 SLC7A5 SLC7A6
2 integral component of membrane GO:0016021 9.76 SLC3A1 SLC3A2 SLC7A11 SLC7A2 SLC7A5 SLC7A6
3 integral component of plasma membrane GO:0005887 9.65 SLC3A1 SLC7A2 SLC7A6 SLC7A7 SLC7A8
4 brush border membrane GO:0031526 9.32 SLC3A1 SLC7A11
5 plasma membrane GO:0005886 9.23 SLC3A1 SLC3A2 SLC7A11 SLC7A2 SLC7A5 SLC7A6
6 basolateral plasma membrane GO:0016323 9.13 SLC7A6 SLC7A7 SLC7A8

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.85 SLC7A11 SLC7A2 SLC7A5 SLC7A6 SLC7A7 SLC7A8
2 leukocyte migration GO:0050900 9.8 SLC3A2 SLC7A11 SLC7A5 SLC7A6 SLC7A7 SLC7A8
3 amino acid transmembrane transport GO:0003333 9.65 SLC7A11 SLC7A5 SLC7A6 SLC7A7 SLC7A8
4 response to toxic substance GO:0009636 9.63 ASS1 SLC7A11 SLC7A8
5 cellular amino acid metabolic process GO:0006520 9.63 SLC3A1 SLC7A2 SLC7A5 SLC7A6 SLC7A7 SLC7A8
6 amino acid transport GO:0006865 9.56 SLC3A1 SLC3A2 SLC7A11 SLC7A2 SLC7A5 SLC7A6
7 neutral amino acid transport GO:0015804 9.48 SLC7A5 SLC7A8
8 basic amino acid transmembrane transport GO:1990822 9.43 SLC3A1 SLC7A7
9 L-amino acid transport GO:0015807 9.4 SLC7A5 SLC7A8
10 L-alpha-amino acid transmembrane transport GO:1902475 8.92 SLC7A5 SLC7A6 SLC7A7 SLC7A8

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.63 SLC7A11 SLC7A2 SLC7A5 SLC7A6 SLC7A7 SLC7A8
2 neutral amino acid transmembrane transporter activity GO:0015175 9.5 SLC3A2 SLC7A5 SLC7A8
3 basic amino acid transmembrane transporter activity GO:0015174 9.43 SLC3A1 SLC7A2 SLC7A7
4 peptide antigen binding GO:0042605 9.37 SLC7A5 SLC7A8
5 amino acid transmembrane transporter activity GO:0015171 9.35 SLC3A1 SLC7A2 SLC7A5 SLC7A6 SLC7A8
6 L-amino acid transmembrane transporter activity GO:0015179 9.02 SLC7A11 SLC7A5 SLC7A6 SLC7A7 SLC7A8

Sources for Lysinuric Protein Intolerance

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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