LPI
MCID: LYS003
MIFTS: 57

Lysinuric Protein Intolerance (LPI)

Categories: Genetic diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Lysinuric Protein Intolerance

MalaCards integrated aliases for Lysinuric Protein Intolerance:

Name: Lysinuric Protein Intolerance 57 11 24 19 19 42 58 75 73 28 12 53 5 43 14 38 71
Lpi 57 11 19 42 58 73
Hyperdibasic Aminoaciduria 11 42 58
Dibasic Amino Aciduria Ii 57 11 73
Dibasic Aminoaciduria 2 19 75
Lpi - Lysinuric Protein Intolerance 42
Dibasicamino Aciduria Ii 19
Congenital Lysinuria 42

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

1-9/100000 (Italy, Finland, Japan) 58

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Lysinuric Protein Intolerance

MedlinePlus Genetics: 42 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.People with lysinuric protein intolerance have features associated with protein intolerance, including an enlarged liver and spleen (hepatosplenomegaly), short stature, muscle weakness, impaired immune function, and progressively brittle bones that are prone to fracture (osteoporosis). A lung disorder called pulmonary alveolar proteinosis may also develop. This disorder is characterized by protein deposits in the lungs, which interfere with lung function and can be life-threatening. An accumulation of amino acids in the kidneys can cause end-stage renal disease (ESRD) in which the kidneys become unable to filter fluids and waste products from the body effectively. A lack of certain amino acids can cause elevated levels of ammonia in the blood. If ammonia levels are too high for too long, they can cause coma and intellectual disability.The signs and symptoms of lysinuric protein intolerance typically appear after infants are weaned and receive greater amounts of protein from solid foods.

MalaCards based summary: Lysinuric Protein Intolerance, also known as lpi, is related to orotic aciduria and aminoaciduria, 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 Transport of inorganic cations/anions and amino acids/oligopeptides and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include breast, bone marrow and lung, and related phenotypes are failure to thrive and intellectual disability

GARD: 19 Lysinuric protein intolerance (LPI) typically presents after an infant is weaned from breast milk or formula; variable findings include recurrent vomiting and episodes of diarrhea, episodes of stupor and coma after a protein-rich meal, poor feeding, aversion to protein-rich food, failure to thrive, hepatosplenomegaly, and muscular hypotonia. Over time, findings include: poor growth, osteoporosis, involvement of the lungs (progressive interstitial changes, pulmonary alveolar proteinosis) and of the kidneys (progressive glomerular and proximal tubular disease), hematologic abnormalities (normochromic or hypochromic anemia, leukopenia, thrombocytopenia, erythroblastophagocytosis in the bone marrow aspirate), and a clinical presentation resembling the hemophagocytic lymphohistiocytosis/macrophagic activation syndrome. Hypercholesterolemia, hypertriglyceridemia, and acute pancreatitis can also be seen.

UniProtKB/Swiss-Prot: 73 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.

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.

OMIM®: 57 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) (Updated 08-Dec-2022)

Orphanet: 58 Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

Wikipedia: 75 Lysinuric protein intolerance (LPI) is an autosomal recessive metabolic disorder affecting amino acid... more...

GeneReviews: NBK1361

Related Diseases for Lysinuric Protein Intolerance

Diseases related to Lysinuric Protein Intolerance via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 135)
# Related Disease Score Top Affiliating Genes
1 orotic aciduria 31.1 SLC7A7 PRODH OTC NAGS ASS1 ASL
2 aminoaciduria 30.8 SLC7A9 SLC3A1
3 carbonic anhydrase va deficiency, hyperammonemia due to 30.1 OTC NAGS ASS1
4 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 29.9 OTC NAGS ASS1 ASL
5 urea cycle disorder 29.7 SLC7A7 PRODH OTC NAGS ASS1 ASL
6 citrullinemia, classic 29.7 PRODH OTC NAGS ASS1 ASL
7 n-acetylglutamate synthase deficiency 29.5 SLC7A7 OTC NAGS ASS1 ASL
8 cystinuria 28.4 SLC7A9 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11
9 ceroid lipofuscinosis, neuronal, 5 10.7
10 pulmonary alveolar proteinosis 10.7
11 ocular motor apraxia 10.6
12 hemophagocytic lymphohistiocytosis, familial, 1 10.5
13 interstitial lung disease 10.5
14 lung disease 10.5
15 osteoporosis 10.5
16 respiratory failure 10.5
17 hemophagocytic lymphohistiocytosis 10.5
18 end stage renal disease 10.5
19 hypotonia 10.5
20 systemic lupus erythematosus 10.4
21 abdominal obesity-metabolic syndrome 1 10.4
22 bone mineral density quantitative trait locus 8 10.4
23 bone mineral density quantitative trait locus 15 10.4
24 systemic lupus erythematosus 1 10.4
25 deficiency anemia 10.4
26 glomerulonephritis 10.4
27 lupus erythematosus 10.4
28 growth hormone deficiency 10.4
29 splenomegaly 10.4
30 metabolic acidosis 10.3
31 inherited metabolic disorder 10.3
32 chickenpox 10.3
33 fanconi syndrome 10.2
34 diarrhea 10.2
35 acute pancreatitis 10.2
36 membranoproliferative glomerulonephritis 10.2
37 pulmonary fibrosis 10.2
38 nutritional deficiency disease 10.2
39 herpes zoster 10.2
40 vasculitis 10.2
41 encephalopathy 10.2
42 amyloidosis, familial visceral 10.1
43 fanconi renotubular syndrome 1 10.1
44 hypercholesterolemia, familial, 1 10.1
45 hypertriglyceridemia 1 10.1
46 pelvic organ prolapse 10.1
47 down syndrome 10.1
48 celiac disease 1 10.1
49 lactase deficiency, congenital 10.1
50 enterocolitis 10.1

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:

58 30 (show top 50) (show all 91)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
2 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
3 osteopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000938
4 respiratory insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0002093
5 delayed skeletal maturation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002750
6 cognitive impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0100543
7 proteinuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0000093
8 vomiting 58 30 Frequent (33%) Frequent (79-30%)
HP:0002013
9 hypertriglyceridemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002155
10 anemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001903
11 osteoporosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000939
12 elevated hepatic transaminase 58 30 Frequent (33%) Frequent (79-30%)
HP:0002910
13 cirrhosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001394
14 thrombocytopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001873
15 steatorrhea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002570
16 increased ldl cholesterol concentration 58 30 Frequent (33%) Frequent (79-30%)
HP:0003141
17 hypercholesterolemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003124
18 hepatic failure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001399
19 hyperammonemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001987
20 abnormal bleeding 58 30 Frequent (33%) Frequent (79-30%)
HP:0001892
21 decreased hdl cholesterol concentration 58 30 Frequent (33%) Frequent (79-30%)
HP:0003233
22 feeding difficulties 58 30 Frequent (33%) Frequent (79-30%)
HP:0011968
23 hyperglutaminemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003217
24 diarrhea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002014
25 hepatosplenomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001433
26 oral aversion 58 30 Frequent (33%) Frequent (79-30%)
HP:0012523
27 leukopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001882
28 decreased glomerular filtration rate 58 30 Frequent (33%) Frequent (79-30%)
HP:0012213
29 hyperalaninemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003348
30 hyperprolinemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008358
31 infantile muscular hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008947
32 hemophagocytosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0012156
33 hyperglycinemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002154
34 elevated plasma citrulline 58 30 Frequent (33%) Frequent (79-30%)
HP:0011966
35 bone marrow hypercellularity 58 30 Frequent (33%) Frequent (79-30%)
HP:0031020
36 argininuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0003268
37 hyperlysinuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0003297
38 increased circulating lactate dehydrogenase concentration 30 Frequent (33%) HP:0025435
39 intraalveolar phospholipid accumulation 30 Frequent (33%) HP:0006517
40 abnormal circulating serine concentration 30 Frequent (33%) HP:0012278
41 lethargy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001254
42 oroticaciduria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003218
43 coma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001259
44 abnormal heart morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001627
45 pancreatitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001733
46 tubulointerstitial nephritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001970
47 renal amyloidosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001917
48 hypofibrinogenemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011900
49 membranous nephropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012578
50 ornithinuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003532

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive
centripetal obesity
thin extremities

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

Abdomen Liver:
hepatomegaly

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 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

Muscle Soft Tissue:
hypotonia
muscle weakness
muscle atrophy

Abdomen Spleen:
splenomegaly

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

Skeletal:
osteoporosis
delayed bone age
frequent fractures

Abdomen Pancreas:
pancreatitis

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 (Updated 08-Dec-2022)

UMLS symptoms related to Lysinuric Protein Intolerance:


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

MGI Mouse Phenotypes related to Lysinuric Protein Intolerance:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.47 ABCA3 ASL ASS1 NAGS OTC PRODH

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 28 SLC7A7

Anatomical Context for Lysinuric Protein Intolerance

Organs/tissues related to Lysinuric Protein Intolerance:

MalaCards : Breast, Bone Marrow, Lung, Kidney, Bone, Spleen, Liver
ODiseA: Blood And Bone Marrow, Respiratory System-Lung, Respiratory System, Kidney

Publications for Lysinuric Protein Intolerance

Articles related to Lysinuric Protein Intolerance:

(show top 50) (show all 267)
# Title Authors PMID Year
1
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. 53 62 24 57 5
18716612 2009
2
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. 53 62 24 57 5
17764084 2008
3
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. 53 62 24 57 5
10080182 1999
4
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. 53 62 24 57 5
10080183 1999
5
Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). 62 24 57 5
10655553 2000
6
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. 53 62 57 5
10737982 2000
7
Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. 53 62 24 5
12402335 2002
8
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. 53 62 24 5
10631139 2000
9
Clinical and genetic features of lysinuric protein intolerance in Japan. 62 24 5
26865117 2016
10
In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages. 62 24 5
21110863 2010
11
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. 53 62 5
15776427 2005
12
The molecular bases of cystinuria and lysinuric protein intolerance. 53 62 5
11377971 2001
13
Genetic homogeneity of lysinuric protein intolerance. 53 62 57
9887380 1998
14
Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. 53 62 57
9199570 1997
15
Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature. 62 5
34095032 2021
16
CUGC for lysinuric protein intolerance (LPI). 62 5
32249831 2020
17
Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14. 62 5
31427715 2019
18
Prioritization of SNPs in y+LAT-1 culpable of Lysinuric protein intolerance and their mutational impacts using protein-protein docking and molecular dynamics simulation studies. 62 5
31211457 2019
19
Analysis of LPI-causing mutations on y+LAT1 function and localization. 62 5
30832686 2019
20
New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance. 62 5
29058386 2017
21
Biochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance. 62 5
28028301 2016
22
Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature. 62 5
25614305 2015
23
Lysinuric Protein Intolerance Presenting with Multiple Fractures. 62 5
25419514 2014
24
Lysinuric protein intolerance can be misdiagnosed as food protein-induced enterocolitis syndrome. 62 5
23772603 2013
25
Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance. 62 5
22325938 2012
26
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. 62 5
18846669 2008
27
A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect. The Mass Screening Group. 62 5
10980538 2000
28
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report. 62 57
10451527 1999
29
Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance. 62 57
9931537 1999
30
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. 62 5
9829974 1998
31
Necropsy findings in lysinuric protein intolerance. 62 57
8655715 1996
32
Immune complex disease consistent with systemic lupus erythematosus in a patient with lysinuric protein intolerance. 62 57
8892019 1996
33
Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of four pediatric patients. 62 57
8163273 1994
34
Familial lysinuric protein intolerance presenting as coma in two adult siblings. 62 57
2732736 1989
35
Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes. 62 57
3143662 1988
36
Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy. 62 57
3917550 1985
37
Renal transport of lysine and arginine in lysinuric protein intolerance. 62 57
6819142 1982
38
Lysinuric protein intolerance. Basolateral transport defect in renal tubuli. 62 57
7204568 1981
39
Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine. 62 57
6777479 1980
40
Lysinuric protein intolerance. 62 57
1155480 1975
41
Lysinuric protein intolerance, an autosomal recessive disease. A genetic study of 10 Finnish families. 62 57
5146580 1971
42
Congenital lysinuria: a new inherited transport disorder of dibasic amino acids. 62 57
5431208 1970
43
Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea. 5
30054302 2018
44
Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions. 62 24
28087478 2017
45
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood. 62 24
28057010 2017
46
Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance. 62 24
26608393 2016
47
Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI. 62 24
26122628 2016
48
Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature. 62 24
28649527 2015
49
Lung involvement in children with lysinuric protein intolerance. 62 24
25335805 2015
50
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015

Variations for Lysinuric Protein Intolerance

ClinVar genetic disease variations for Lysinuric Protein Intolerance:

5 (show top 50) (show all 440)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC7A7 NM_003982.4(SLC7A7):c.1A>C (p.Met1Leu) SNV Pathogenic
6208 rs121908676 GRCh37: 14:23282607-23282607
GRCh38: 14:22813398-22813398
2 SLC7A7 NM_003982.4(SLC7A7):c.895-2A>G SNV Pathogenic
56381 rs146582474 GRCh37: 14:23245147-23245147
GRCh38: 14:22775938-22775938
3 SLC7A7 NM_003982.4(SLC7A7):c.998+1G>T SNV Pathogenic
56382 rs386833828 GRCh37: 14:23245041-23245041
GRCh38: 14:22775832-22775832
4 SLC7A7 NC_000014.9:g.(?_22773590)_(22776338_?)del DEL Pathogenic
529506 GRCh37: 14:23242799-23245547
GRCh38: 14:22773590-22776338
5 SLC7A7 NM_003982.4(SLC7A7):c.1122C>A (p.Cys374Ter) SNV Pathogenic
561110 rs771254387 GRCh37: 14:23243686-23243686
GRCh38: 14:22774477-22774477
6 SLC7A7 NC_000014.9:g.(?_22773590)_(22780071_?)del DEL Pathogenic
832683 GRCh37: 14:23242799-23249280
GRCh38:
7 SLC7A7 NC_000014.9:g.(?_22778783)_(22780061_?)del DEL Pathogenic
832882 GRCh37: 14:23247992-23249270
GRCh38:
8 SLC7A7 NC_000014.9:g.(?_22773610)_(22776318_?)del DEL Pathogenic
583991 GRCh37: 14:23242819-23245527
GRCh38: 14:22773610-22776318
9 SLC7A7 GRCh37/hg19 14q11.2(chr14:23242388-23245542) CN LOSS Pathogenic
625743 GRCh37: 14:23242388-23245542
GRCh38:
10 SLC7A7 NC_000014.9:g.(?_22773590)_(22813418_?)del DEL Pathogenic
643157 GRCh37: 14:23242799-23282627
GRCh38: 14:22773590-22813418
11 SLC7A7 NM_003982.4(SLC7A7):c.895-2_895delinsCCATT INDEL Pathogenic
646821 rs1594944871 GRCh37: 14:23245145-23245147
GRCh38: 14:22775936-22775938
12 SLC7A7 NC_000014.9:g.(?_22773212)_(22780061_?)del DEL Pathogenic
831197 GRCh37: 14:23242421-23249270
GRCh38:
13 SLC7A7 NM_003982.4(SLC7A7):c.949del (p.Ala317fs) DEL Pathogenic
1355862 GRCh37: 14:23245091-23245091
GRCh38: 14:22775882-22775882
14 SLC7A7 NM_003982.4(SLC7A7):c.126_129del (p.Val43fs) DEL Pathogenic
1376330 GRCh37: 14:23282479-23282482
GRCh38: 14:22813270-22813273
15 SLC7A7 NC_000014.8:g.(?_23242819)_(23249280_?)del DEL Pathogenic
1397908 GRCh37: 14:23242819-23249280
GRCh38:
16 SLC7A7 NM_003982.4(SLC7A7):c.539del (p.Gly180fs) DEL Pathogenic
1371202 GRCh37: 14:23249221-23249221
GRCh38: 14:22780012-22780012
17 SLC7A7 NC_000014.8:g.(?_23242819)_(23282607_?)del DEL Pathogenic
1397899 GRCh37: 14:23242819-23282607
GRCh38:
18 SLC7A7 NM_003982.4(SLC7A7):c.930G>A (p.Trp310Ter) SNV Pathogenic
1384004 GRCh37: 14:23245110-23245110
GRCh38: 14:22775901-22775901
19 SLC7A7 NM_003982.4(SLC7A7):c.608_609del (p.Ile203fs) DEL Pathogenic
1430248 GRCh37: 14:23249151-23249152
GRCh38: 14:22779942-22779943
20 SLC7A7 NM_003982.4(SLC7A7):c.465T>G (p.Tyr155Ter) SNV Pathogenic
1459832 GRCh37: 14:23282143-23282143
GRCh38: 14:22812934-22812934
21 SLC7A7 NM_003982.4(SLC7A7):c.635_638dup (p.Phe214fs) DUP Pathogenic
1460241 GRCh37: 14:23248133-23248134
GRCh38: 14:22778924-22778925
22 SLC7A7 NC_000014.8:g.(?_23247982)_(23249280_?)del DEL Pathogenic
1455292 GRCh37: 14:23247982-23249280
GRCh38:
23 SLC7A7 NM_003982.4(SLC7A7):c.371del (p.Leu124fs) DEL Pathogenic
1452476 GRCh37: 14:23282237-23282237
GRCh38: 14:22813028-22813028
24 SLC7A7 NM_003982.4(SLC7A7):c.484_490dup (p.Ala164fs) DUP Pathogenic
947208 rs2039336515 GRCh37: 14:23282117-23282118
GRCh38: 14:22812908-22812909
25 SLC7A7 NM_003982.4(SLC7A7):c.516del (p.Asn173fs) DEL Pathogenic
958892 rs2038690553 GRCh37: 14:23249244-23249244
GRCh38: 14:22780035-22780035
26 SLC7A7 NM_003982.4(SLC7A7):c.426_434del (p.Tyr142_Gln145delinsTer) DEL Pathogenic
1068688 GRCh37: 14:23282174-23282182
GRCh38: 14:22812965-22812973
27 SLC7A7 NM_003982.4(SLC7A7):c.293dup (p.Lys99fs) DUP Pathogenic
1069542 GRCh37: 14:23282314-23282315
GRCh38: 14:22813105-22813106
28 SLC7A7 NC_000014.8:g.23243320_23243324del DEL Pathogenic
1071672 GRCh37: 14:23243320-23243324
GRCh38: 14:22774111-22774115
29 SLC7A7 NM_003982.4(SLC7A7):c.889dup (p.Ala297fs) DUP Pathogenic
1075788 GRCh37: 14:23245408-23245409
GRCh38: 14:22776199-22776200
30 SLC7A7 NM_003982.4(SLC7A7):c.701del (p.Tyr233_Ser234insTer) DEL Pathogenic
1076198 GRCh37: 14:23248071-23248071
GRCh38: 14:22778862-22778862
31 SLC7A7 NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter) DUP Pathogenic
56350 rs386833798 GRCh37: 14:23243656-23243657
GRCh38: 14:22774447-22774448
32 SLC7A7 NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs) DEL Pathogenic
56352 rs386833800 GRCh37: 14:23243620-23243623
GRCh38: 14:22774411-22774414
33 SLC7A7 NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter) SNV Pathogenic
56359 rs386833807 GRCh37: 14:23243169-23243169
GRCh38: 14:22773960-22773960
34 SLC7A7 NM_003982.4(SLC7A7):c.1095+2del DEL Pathogenic
437441 rs1555320639 GRCh37: 14:23244651-23244651
GRCh38: 14:22775442-22775442
35 SLC7A7 NC_000014.9:g.(?_22773212)_(22776328_?)del DEL Pathogenic
830609 GRCh37: 14:23242421-23245537
GRCh38:
36 SLC7A7 NC_000014.9:g.(?_22812880)_(22813418_?)del DEL Pathogenic
833005 GRCh37: 14:23282089-23282627
GRCh38:
37 SLC7A7 NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs) DEL Pathogenic
859540 rs1355745932 GRCh37: 14:23243187-23243188
GRCh38: 14:22773978-22773979
38 SLC7A7 NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs) INSERT Pathogenic
953573 rs752263234 GRCh37: 14:23243563-23243564
GRCh38: 14:22774354-22774355
39 SLC7A7 NM_003982.4(SLC7A7):c.88C>T (p.Gln30Ter) SNV Pathogenic
1453292 GRCh37: 14:23282520-23282520
GRCh38: 14:22813311-22813311
40 SLC7A7 NM_003982.4(SLC7A7):c.545dup (p.Val183fs) DUP Pathogenic
56370 rs386833818 GRCh37: 14:23249214-23249215
GRCh38: 14:22780005-22780006
41 SLC7A7 NM_003982.4(SLC7A7):c.625+1G>A SNV Pathogenic
56374 rs386833822 GRCh37: 14:23249134-23249134
GRCh38: 14:22779925-22779925
42 SLC7A7 NM_003982.4(SLC7A7):c.625+1G>C SNV Pathogenic
56375 rs386833822 GRCh37: 14:23249134-23249134
GRCh38: 14:22779925-22779925
43 SLC7A7 NM_003982.4(SLC7A7):c.894+1G>T SNV Pathogenic
56380 rs386833827 GRCh37: 14:23245403-23245403
GRCh38: 14:22776194-22776194
44 SLC7A7 NM_003982.4(SLC7A7):c.766G>T (p.Glu256Ter) SNV Pathogenic
1070579 GRCh37: 14:23248006-23248006
GRCh38: 14:22778797-22778797
45 SLC7A7 NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter) SNV Pathogenic
1071587 GRCh37: 14:23243692-23243692
GRCh38: 14:22774483-22774483
46 SLC7A7 NC_000014.8:g.(?_23282099)_(23285111_?)del DEL Pathogenic
1076351 GRCh37: 14:23282099-23285111
GRCh38:
47 SLC7A7 NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter) SNV Pathogenic
56360 rs386833808 GRCh37: 14:23243154-23243154
GRCh38: 14:22773945-22773945
48 SLC7A7 NM_003982.4(SLC7A7):c.1001T>G (p.Leu334Arg) SNV Pathogenic
6209 rs72552272 GRCh37: 14:23244747-23244747
GRCh38: 14:22775538-22775538
49 SLC7A7 NM_003982.4(SLC7A7):c.1263_1269del (p.Ile422fs) DEL Pathogenic
1070969 GRCh37: 14:23243302-23243308
GRCh38: 14:22774093-22774099
50 SLC7A7 NM_003982.4(SLC7A7):c.1293_1308del (p.Val432fs) DEL Pathogenic
1071613 GRCh37: 14:23243263-23243278
GRCh38: 14:22774054-22774069

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

73 (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

Copy number variations for Lysinuric Protein Intolerance from CNVD:

6
# CNVD ID Chromosome 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 GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 SLC7A9 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11
2
Show member pathways
13.1 STXBP2 SLC7A9 SLC7A8 SLC7A7 SLC7A6 SLC7A5
3
Show member pathways
12.89 SLC7A5 SLC3A2 PRODH OTC NAGS ASS1
4 12.32 SLC7A5 SLC7A11 SLC3A2 ASS1
5
Show member pathways
12.31 SLC7A9 SLC7A7 SLC3A2 SLC3A1 ABCA3
6
Show member pathways
11.75 ASL ASS1 NAGS OTC PRODH
7
Show member pathways
11.74 SLC7A9 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11
8
Show member pathways
11.68 PRODH OTC ASS1
9 11.41 SLC7A9 SLC7A8 SLC7A7 SLC3A2 SLC3A1
10
Show member pathways
10.6 SLC7A9 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11
11 10.59 ASS1 ASL
12 10.54 OTC NAGS ASS1 ASL
13 10.36 SLC7A5 SLC7A11 SLC3A2
14
Show member pathways
10.1 SLC7A9 SLC3A1

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 apical plasma membrane GO:0016324 10.02 SLC7A9 SLC7A8 SLC7A5 SLC3A2 SLC3A1
2 lysosome GO:0005764 9.91 SLC7A5 SLC3A2 SFTPD ASS1 ABCA3
3 brush border membrane GO:0031526 9.73 SLC3A1 SLC7A11 SLC7A9
4 basolateral plasma membrane GO:0016323 9.65 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC3A2
5 basal plasma membrane GO:0009925 9.63 SLC7A8 SLC7A5 SLC3A2
6 amino acid transport complex GO:1990184 8.92 SLC7A5 SLC3A2

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 neutral amino acid transport GO:0015804 10.08 SLC7A9 SLC7A8 SLC7A5 SLC1A7
2 transmembrane transport GO:0055085 10.06 SLC7A9 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11
3 L-alpha-amino acid transmembrane transport GO:1902475 10.04 SLC1A7 SLC7A6 SLC7A7 SLC7A9
4 response to toxic substance GO:0009636 10.03 SLC7A8 SLC7A11 ASS1
5 basic amino acid transmembrane transport GO:1990822 9.99 SLC7A7 SLC7A6 SLC3A1
6 thyroid hormone transport GO:0070327 9.95 SLC7A8 SLC7A5 SLC3A2
7 surfactant homeostasis GO:0043129 9.94 SFTPD ABCA3
8 amino acid import across plasma membrane GO:0089718 9.94 SLC7A8 SLC7A5
9 leucine transport GO:0015820 9.93 SLC7A8 SLC7A5 SLC3A2
10 midgut development GO:0007494 9.92 OTC ASS1
11 L-cystine transport GO:0015811 9.92 SLC7A9 SLC3A1
12 tryptophan transport GO:0015827 9.92 SLC7A8 SLC7A5 SLC3A2
13 urea cycle GO:0000050 9.92 ASL ASS1 NAGS OTC
14 L-alanine import across plasma membrane GO:1904273 9.91 SLC7A8 SLC3A2
15 phenylalanine transport GO:0015823 9.91 SLC7A5 SLC3A2
16 leucine import across plasma membrane GO:0098713 9.91 SLC3A2 SLC7A5 SLC7A8
17 arginine biosynthetic process via ornithine GO:0042450 9.88 ASL OTC
18 L-leucine import across plasma membrane GO:1903801 9.88 SLC3A2 SLC7A5 SLC7A8
19 arginine biosynthetic process GO:0006526 9.8 OTC NAGS ASS1 ASL
20 isoleucine transport GO:0015818 9.77 SLC3A2 SLC7A5
21 valine transport GO:0015829 9.77 SLC7A8 SLC7A5 SLC3A2
22 amino acid biosynthetic process GO:0008652 9.73 OTC ASS1 ASL
23 L-amino acid transport GO:0015807 9.7 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC1A7
24 proline transport GO:0015824 9.63 SLC7A5 SLC3A2
25 methionine transport GO:0015821 9.59 SLC3A2 SLC7A5
26 tyrosine transport GO:0015828 9.58 SLC3A2 SLC7A5
27 L-histidine transport GO:1902024 9.57 SLC7A5 SLC3A2
28 amino acid transmembrane transport GO:0003333 9.56 SLC7A9 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11
29 amino acid transport GO:0006865 9.36 SLC7A9 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 peptide antigen binding GO:0042605 9.93 SLC7A9 SLC7A8 SLC7A5
2 basic amino acid transmembrane transporter activity GO:0015174 9.85 SLC7A7 SLC7A6 SLC3A1
3 amino acid binding GO:0016597 9.81 OTC ASS1
4 amino acid transmembrane transporter activity GO:0015171 9.81 SLC7A9 SLC7A8 SLC7A6 SLC7A5 SLC3A1
5 L-alanine transmembrane transporter activity GO:0015180 9.8 SLC7A8 SLC3A2
6 L-leucine transmembrane transporter activity GO:0015190 9.8 SLC7A8 SLC7A5 SLC3A2
7 thyroid hormone transmembrane transporter activity GO:0015349 9.78 SLC7A8 SLC7A5
8 aromatic amino acid transmembrane transporter activity GO:0015173 9.73 SLC3A2 SLC7A5
9 transmembrane transporter activity GO:0022857 9.73 SLC7A11 SLC7A5 SLC7A6 SLC7A7 SLC7A8 SLC7A9
10 L-cystine transmembrane transporter activity GO:0015184 9.71 SLC3A1 SLC7A9
11 neutral L-amino acid transmembrane transporter activity GO:0015175 9.65 SLC7A9 SLC7A8 SLC7A5 SLC3A2 SLC1A7
12 L-amino acid transmembrane transporter activity GO:0015179 9.44 SLC7A9 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11

Sources for Lysinuric Protein Intolerance

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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