LPI
MCID: LYS003
MIFTS: 56

Lysinuric Protein Intolerance (LPI)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Lysinuric Protein Intolerance

MalaCards integrated aliases for Lysinuric Protein Intolerance:

Name: Lysinuric Protein Intolerance 56 12 74 24 52 25 58 73 36 29 13 54 6 43 15 39 71
Lpi 56 12 52 25 58 73
Dibasic Amino Aciduria Ii 56 12 73
Hyperdibasic Aminoaciduria 12 25
Dibasic Aminoaciduria 2 74 52
Lpi - Lysinuric Protein Intolerance 25
Hyperdibasic Aminoaciduria Type 2 58
Dibasicamino Aciduria Ii 52
Congenital Lysinuria 25

Characteristics:

Orphanet epidemiological data:

58
lysinuric protein intolerance
Prevalence: 1-9/100000 (Italy),1-9/100000 (Finland); Age of onset: Infancy,Neonatal;

OMIM:

56
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:

31
lysinuric protein intolerance:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Lysinuric Protein Intolerance

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. 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 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and orotic aciduria, 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 failure to thrive and intellectual disability

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.

NIH Rare Diseases : 52 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 can end-stage renal disease , coma and intellectual 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.

OMIM : 56 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)

KEGG : 36 Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. Patients affected by this disorder, in general, come to medical attention from early on in life with several significant problems including failure to thrive and intellectual impairment. LPI is caused by mutations in the SLC7A7 gene, which encodes the y+LAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family.

UniProtKB/Swiss-Prot : 73 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 : 74 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 104)
# Related Disease Score Top Affiliating Genes
1 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 32.0 OTC NAGS ASS1 ASL
2 orotic aciduria 31.3 SLC7A7 PRODH OTC NAGS ASS1 ASL
3 carbonic anhydrase va deficiency, hyperammonemia due to 31.0 OTC NAGS ASS1
4 inherited metabolic disorder 29.7 SLC3A1 PRODH NAGS
5 citrullinemia, classic 29.3 SLC7A7 OTC NAGS ASS1 ASL
6 argininosuccinic aciduria 29.3 SLC7A7 OTC NAGS ASS1 ASL
7 urea cycle disorder 29.2 SLC7A7 PRODH OTC NAGS ASS1 ASL
8 cystinuria 28.3 SLC7A8 SLC7A7 SLC7A11 SLC3A2 SLC3A1 SLC1A7
9 hyperdibasic aminoaciduria type 1 12.5
10 autosomal recessive disease 10.8
11 pulmonary alveolar proteinosis 10.7
12 aminoaciduria 10.7
13 ocular motor apraxia 10.6
14 lung disease 10.6
15 interstitial lung disease 10.5
16 osteoporosis 10.5
17 bone mineral density quantitative trait locus 8 10.5
18 bone mineral density quantitative trait locus 15 10.5
19 hypotonia 10.5
20 systemic lupus erythematosus 10.4
21 hemophagocytic lymphohistiocytosis 10.4
22 thrombocytopenia 10.4
23 glomerulonephritis 10.4
24 end stage renal failure 10.4
25 extrahepatic bile duct adenocarcinoma 10.3 SLC7A8 SLC7A5
26 metabolic acidosis 10.3
27 respiratory failure 10.3
28 diarrhea 10.3
29 chickenpox 10.3
30 lupus erythematosus 10.3
31 growth hormone deficiency 10.3
32 splenomegaly 10.3
33 fanconi syndrome 10.2
34 neutropenia 10.2
35 idiopathic interstitial pneumonia 10.2
36 acute pancreatitis 10.2
37 membranoproliferative glomerulonephritis 10.2
38 pulmonary fibrosis 10.2
39 vasculitis 10.2
40 encephalopathy 10.2
41 thalassemia 10.2
42 hemosiderosis 10.2
43 rare hereditary hemochromatosis 10.2
44 postpartum psychosis 10.2 OTC ASS1
45 autoimmune disease 10.1
46 fanconi renotubular syndrome 1 10.1
47 fibrosis of extraocular muscles, congenital, 1 10.1
48 hypercholesterolemia, familial, 1 10.1
49 hypertriglyceridemia, familial 10.1
50 down syndrome 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 31 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
4 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
5 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
6 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
7 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
8 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
9 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
10 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
11 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
12 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
13 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
14 abnormal bleeding 58 31 frequent (33%) Frequent (79-30%) HP:0001892
15 cirrhosis 58 31 frequent (33%) Frequent (79-30%) HP:0001394
16 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
17 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
18 increased ldl cholesterol concentration 58 31 frequent (33%) Frequent (79-30%) HP:0003141
19 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
20 hepatic failure 58 31 frequent (33%) Frequent (79-30%) HP:0001399
21 increased lactate dehydrogenase activity 58 31 frequent (33%) Frequent (79-30%) HP:0025435
22 hypercholesterolemia 58 31 frequent (33%) Frequent (79-30%) HP:0003124
23 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
24 hyperammonemia 58 31 frequent (33%) Frequent (79-30%) HP:0001987
25 hepatosplenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001433
26 hyperglutaminemia 58 31 frequent (33%) Frequent (79-30%) HP:0003217
27 leukopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001882
28 hyperalaninemia 58 31 frequent (33%) Frequent (79-30%) HP:0003348
29 oral aversion 58 31 frequent (33%) Frequent (79-30%) HP:0012523
30 steatorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002570
31 elevated plasma citrulline 58 31 frequent (33%) Frequent (79-30%) HP:0011966
32 decreased hdl cholesterol concentration 58 31 frequent (33%) Frequent (79-30%) HP:0003233
33 hyperglycinemia 58 31 frequent (33%) Frequent (79-30%) HP:0002154
34 bone marrow hypercellularity 58 31 frequent (33%) Frequent (79-30%) HP:0031020
35 alveolar proteinosis 58 31 frequent (33%) Frequent (79-30%) HP:0006517
36 argininuria 58 31 frequent (33%) Frequent (79-30%) HP:0003268
37 hyperlysinuria 58 31 frequent (33%) Frequent (79-30%) HP:0003297
38 hyperprolinemia 58 31 frequent (33%) Frequent (79-30%) HP:0008358
39 hemophagocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0012156
40 decreased glomerular filtration rate 58 31 frequent (33%) Frequent (79-30%) HP:0012213
41 abnormal circulating serine concentration 31 frequent (33%) HP:0012278
42 pancreatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001733
43 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
44 abnormal heart morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001627
45 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
46 oroticaciduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003218
47 increased serum ferritin 58 31 occasional (7.5%) Occasional (29-5%) HP:0003281
48 tubulointerstitial nephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001970
49 hypofibrinogenemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011900
50 renal amyloidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001917

Symptoms via clinical synopsis from OMIM:

56
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

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

Muscle Soft Tissue:
muscle weakness
hypotonia
muscle atrophy

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.85 ASL G6PD GPR55 OTC SFTPD SLC3A1
2 homeostasis/metabolism MP:0005376 9.8 ASL ASS1 G6PD GPR55 NAGS OTC
3 immune system MP:0005387 9.36 ASL ASS1 GPR55 OTC SFTPD SLC3A1

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 29 SLC7A7

Anatomical Context for Lysinuric Protein Intolerance

MalaCards organs/tissues related to Lysinuric Protein Intolerance:

40
Kidney, Bone, Lung, Liver, Heart, Testes, Spleen

Publications for Lysinuric Protein Intolerance

Articles related to Lysinuric Protein Intolerance:

(show top 50) (show all 246)
# Title Authors PMID Year
1
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. 54 61 24 56 6
18716612 2009
2
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. 54 61 24 56 6
17764084 2008
3
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. 54 61 24 56 6
10080182 1999
4
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. 54 61 24 56 6
10080183 1999
5
Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). 61 24 56 6
10655553 2000
6
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. 54 61 56 6
10737982 2000
7
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. 54 61 24 6
10631139 2000
8
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood. 61 24 52
28057010 2017
9
Genetic homogeneity of lysinuric protein intolerance. 54 61 56
9887380 1998
10
Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. 54 61 56
9199570 1997
11
Lysinuric Protein Intolerance 61 6
20301535 2006
12
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. 54 61 24
15776427 2005
13
Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. 54 61 24
12402335 2002
14
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report. 61 56
10451527 1999
15
Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance. 61 56
9931537 1999
16
Necropsy findings in lysinuric protein intolerance. 61 56
8655715 1996
17
Immune complex disease consistent with systemic lupus erythematosus in a patient with lysinuric protein intolerance. 61 56
8892019 1996
18
Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of four pediatric patients. 61 56
8163273 1994
19
Familial lysinuric protein intolerance presenting as coma in two adult siblings. 61 56
2732736 1989
20
Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes. 61 56
3143662 1988
21
Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy. 61 56
3917550 1985
22
Renal transport of lysine and arginine in lysinuric protein intolerance. 61 56
6819142 1982
23
Lysinuric protein intolerance. Basolateral transport defect in renal tubuli. 61 56
7204568 1981
24
Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine. 61 56
6777479 1980
25
Lysinuric protein intolerance. 61 56
1155480 1975
26
Lysinuric protein intolerance, an autosomal recessive disease. A genetic study of 10 Finnish families. 61 56
5146580 1971
27
Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions. 61 24
28087478 2017
28
Clinical and genetic features of lysinuric protein intolerance in Japan. 61 24
26865117 2016
29
Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance. 61 24
26608393 2016
30
Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI. 61 24
26122628 2016
31
Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature. 61 24
28649527 2015
32
Lung involvement in children with lysinuric protein intolerance. 61 24
25335805 2015
33
Lysinuric protein intolerance: reviewing concepts on a multisystem disease. 61 24
21308987 2011
34
First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance. 61 24
23430825 2011
35
Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance. 61 24
23430827 2011
36
Combined hyperlipidemia in patients with lysinuric protein intolerance. 61 24
20177788 2010
37
In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages. 61 24
21110863 2010
38
SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance. 61 24
20030831 2009
39
Carnitine deficiency and L-carnitine supplementation in lysinuric protein intolerance. 61 24
18328359 2008
40
Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report. 61 24
17386098 2007
41
First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis. 61 24
17666782 2007
42
Hazards associated with pregnancies and deliveries in lysinuric protein intolerance. 61 24
16423630 2006
43
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. 61 24
15289783 2004
44
A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect. The Mass Screening Group. 61 24
10980538 2000
45
Hyperdibasicaminoaciduria in a mentally retarded homozygote with a peculiar response to phenothiazines. 56
4144453 1973
46
Familial protein intolerance. Possible nature of enzyme defect. 56
5553484 1971
47
Congenital lysinuria: a new inherited transport disorder of dibasic amino acids. 56
5431208 1970
48
Familial protein intolerance with deficient transport of basic amino acids. Report on an adult patient with chronic hyperammonemia. 56
5666624 1968
49
Familial protein intolerance with deficient transport of basic amino acids. An analysis of 10 patients. 56
6076999 1967
50
Protein intolerance with deficient transport of basic aminoacids. Another inborn error of metabolism. 56
4158034 1965

Variations for Lysinuric Protein Intolerance

ClinVar genetic disease variations for Lysinuric Protein Intolerance:

6 (show top 50) (show all 112) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC7A7 SLC7A7, IVS6AS, A-T, -2SNV Pathogenic 6205
2 SLC7A7 SLC7A7, 455-BP DEL, NT197deletion Pathogenic 6206
3 SLC7A7 NM_001126105.2(SLC7A7):c.1A>C (p.Met1Leu)SNV Pathogenic 6208 rs121908676 14:23282607-23282607 14:22813398-22813398
4 SLC7A7 NM_001126105.2(SLC7A7):c.1001T>G (p.Leu334Arg)SNV Pathogenic 6209 rs72552272 14:23244747-23244747 14:22775538-22775538
5 SLC7A7 NM_001126105.2(SLC7A7):c.161G>T (p.Gly54Val)SNV Pathogenic 6211 rs121908677 14:23282447-23282447 14:22813238-22813238
6 SLC7A7 NM_001126106.2(SLC7A7):c.1228C>T (p.Arg410Ter)SNV Pathogenic 6212 rs121908678 14:23243580-23243580 14:22774371-22774371
7 SLC7A7 NM_001126106.2(SLC7A7):c.726G>A (p.Trp242Ter)SNV Pathogenic 6214 rs121908679 14:23248046-23248046 14:22778837-22778837
8 SLC7A7 SLC7A7, EX6-11, DELdeletion Pathogenic 6215
9 SLC7A7 NM_001126105.2(SLC7A7):c.1185_1188del (p.Ser396fs)deletion Pathogenic 56352 rs386833800 14:23243620-23243623 14:22774411-22774414
10 SLC7A7 NM_001126105.2(SLC7A7):c.1387del (p.Val463fs)deletion Pathogenic 56358 rs386833806 14:23243184-23243184 14:22773975-22773975
11 SLC7A7 NM_001126105.2(SLC7A7):c.149T>A (p.Met50Lys)SNV Pathogenic 56363 rs386833811 14:23282459-23282459 14:22813250-22813250
12 SLC7A7 NM_001126105.2(SLC7A7):c.1095+2deldeletion Pathogenic 437441 rs1555320639 14:23244651-23244651 14:22775442-22775442
13 SLC7A7 NC_000014.8:g.(?_23242799)_(23245547_?)deldeletion Pathogenic 529506 14:23242799-23245547 14:22773590-22776338
14 SLC7A7 NM_001126106.2(SLC7A7):c.1122C>A (p.Cys374Ter)SNV Pathogenic 561110 rs771254387 14:23243686-23243686 14:22774477-22774477
15 SLC7A7 NM_001126105.2(SLC7A7):c.1395del (p.Glu465fs)deletion Pathogenic 579224 rs1290445670 14:23243176-23243176 14:22773967-22773967
16 SLC7A7 GRCh37/hg19 14q11.2(chr14:23242388-23245542)copy number loss Pathogenic 625743 14:23242388-23245542
17 SLC7A7 NM_001126106.2(SLC7A7):c.895-2_895delinsCCATTindel Pathogenic 646821 14:23245145-23245147 14:22775936-22775938
18 SLC7A7 NC_000014.8:g.(?_23242799)_(23282627_?)deldeletion Pathogenic 643157 14:23242799-23282627 14:22773590-22813418
19 SLC7A7 NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)deletion Pathogenic/Likely pathogenic 56346 rs386833794 14:23244740-23244743 14:22775531-22775534
20 SLC7A7 NM_001126105.2(SLC7A7):c.1381_1384dup (p.Arg462fs)duplication Pathogenic/Likely pathogenic 56357 rs386833805 14:23243186-23243187 14:22773977-22773978
21 SLC7A7 NM_001126105.2(SLC7A7):c.625+1G>ASNV Pathogenic/Likely pathogenic 56374 rs386833822 14:23249134-23249134 14:22779925-22779925
22 SLC7A7 NM_001126105.2(SLC7A7):c.625+1G>CSNV Likely pathogenic 56375 rs386833822 14:23249134-23249134 14:22779925-22779925
23 SLC7A7 NM_001126105.2(SLC7A7):c.713C>T (p.Ser238Phe)SNV Likely pathogenic 56376 rs386833823 14:23248059-23248059 14:22778850-22778850
24 SLC7A7 NM_001126105.2(SLC7A7):c.753G>T (p.Glu251Asp)SNV Likely pathogenic 56377 rs386833824 14:23248019-23248019 14:22778810-22778810
25 SLC7A7 NM_001126105.2(SLC7A7):c.782T>C (p.Leu261Pro)SNV Likely pathogenic 56378 rs386833825 14:23245516-23245516 14:22776307-22776307
26 SLC7A7 NM_001126105.2(SLC7A7):c.820dup (p.Tyr274fs)duplication Likely pathogenic 56379 rs386833826 14:23245477-23245478 14:22776268-22776269
27 SLC7A7 NM_001126105.2(SLC7A7):c.895-2A>GSNV Likely pathogenic 56381 rs146582474 14:23245147-23245147 14:22775938-22775938
28 SLC7A7 NM_001126105.2(SLC7A7):c.998+1G>TSNV Likely pathogenic 56382 rs386833828 14:23245041-23245041 14:22775832-22775832
29 SLC7A7 NM_001126105.2(SLC7A7):c.998G>T (p.Arg333Met)SNV Likely pathogenic 56383 rs386833829 14:23245042-23245042 14:22775833-22775833
30 SLC7A7 NM_001126105.2(SLC7A7):c.1402C>T (p.Arg468Ter)SNV Likely pathogenic 56359 rs386833807 14:23243169-23243169 14:22773960-22773960
31 SLC7A7 NM_001126105.2(SLC7A7):c.1417C>T (p.Arg473Ter)SNV Likely pathogenic 56360 rs386833808 14:23243154-23243154 14:22773945-22773945
32 SLC7A7 NM_001126105.2(SLC7A7):c.1460del (p.Cys487fs)deletion Likely pathogenic 56361 rs386833809 14:23242895-23242895 14:22773686-22773686
33 SLC7A7 NM_001126105.2(SLC7A7):c.1465T>C (p.Ser489Pro)SNV Likely pathogenic 56362 rs386833810 14:23242890-23242890 14:22773681-22773681
34 SLC7A7 NM_001126106.2(SLC7A7):c.211_212CT[2] (p.Ser72fs)short repeat Likely pathogenic 56364 rs386833812 14:23282390-23282393 14:22813181-22813184
35 SLC7A7 NM_001126105.2(SLC7A7):c.254_255del (p.Phe85fs)deletion Likely pathogenic 56365 rs386833813 14:23282353-23282354 14:22813144-22813145
36 SLC7A7 NM_001126105.2(SLC7A7):c.371T>C (p.Leu124Pro)SNV Likely pathogenic 56366 rs386833814 14:23282237-23282237 14:22813028-22813028
37 SLC7A7 NM_001126105.2(SLC7A7):c.418G>C (p.Ala140Pro)SNV Likely pathogenic 56367 rs386833815 14:23282190-23282190 14:22812981-22812981
38 SLC7A7 NM_001126105.2(SLC7A7):c.454T>C (p.Phe152Leu)SNV Likely pathogenic 56368 rs386833816 14:23282154-23282154 14:22812945-22812945
39 SLC7A7 NM_001126105.2(SLC7A7):c.499+1G>ASNV Likely pathogenic 56369 rs386833817 14:23282108-23282108 14:22812899-22812899
40 SLC7A7 NM_001126105.2(SLC7A7):c.545dup (p.Val183fs)duplication Likely pathogenic 56370 rs386833818 14:23249214-23249215 14:22780005-22780006
41 SLC7A7 NM_001126105.2(SLC7A7):c.563C>T (p.Thr188Ile)SNV Likely pathogenic 56371 rs386833819 14:23249197-23249197 14:22779988-22779988
42 SLC7A7 NM_001126105.2(SLC7A7):c.571A>G (p.Lys191Glu)SNV Likely pathogenic 56372 rs386833820 14:23249189-23249189 14:22779980-22779980
43 SLC7A7 NM_001126105.2(SLC7A7):c.622C>T (p.Gln208Ter)SNV Likely pathogenic 56373 rs386833821 14:23249138-23249138 14:22779929-22779929
44 SLC7A7 NM_001126105.2(SLC7A7):c.1262del (p.Pro421fs)deletion Likely pathogenic 56353 rs386833801 14:23243309-23243309 14:22774100-22774100
45 SLC7A7 NM_001126105.2(SLC7A7):c.1273T>C (p.Cys425Arg)SNV Likely pathogenic 56354 rs386833802 14:23243298-23243298 14:22774089-22774089
46 SLC7A7 NM_001126105.2(SLC7A7):c.1344del (p.Ile449fs)deletion Likely pathogenic 56355 rs386833803 14:23243227-23243227 14:22774018-22774018
47 SLC7A7 NM_001126105.2(SLC7A7):c.1371C>A (p.Tyr457Ter)SNV Likely pathogenic 56356 rs386833804 14:23243200-23243200 14:22773991-22773991
48 SLC7A7 NM_001126105.2(SLC7A7):c.106_108del (p.Glu36del)deletion Likely pathogenic 56348 rs386833796 14:23282500-23282502 14:22813291-22813293
49 SLC7A7 NM_001126105.2(SLC7A7):c.1093A>T (p.Asn365Tyr)SNV Likely pathogenic 56349 rs386833797 14:23244655-23244655 14:22775446-22775446
50 SLC7A7 NM_001126105.2(SLC7A7):c.1147_1151dup (p.Tyr384Ter)duplication Likely pathogenic 56350 rs386833798 14:23243656-23243657 14:22774447-22774448

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:

7
# 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 KEGG:

36
# Name Kegg Source Accession
1 Protein digestion and absorption hsa04974

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A2 SLC7A11
2
Show member pathways
13.05 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11 SLC3A2
3 12.32 SLC7A5 SLC7A11 SLC3A2 G6PD ASS1
4
Show member pathways
12.13 OTC NAGS G6PD ASS1 ASL
5
Show member pathways
11.88 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11 SLC3A2
6
Show member pathways
11.74 SLC7A5 SLC3A2 PRODH
7
Show member pathways
11.04 OTC NAGS ASS1 ASL
8
Show member pathways
10.94 OTC NAGS ASS1 ASL
9 10.85 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11 SLC3A2
10
Show member pathways
10.74 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A2 SLC7A11
11
Show member pathways
10.57 ASS1 ASL

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 basolateral plasma membrane GO:0016323 9.46 SLC7A8 SLC7A7 SLC7A6 SLC7A5
2 lysosome GO:0005764 9.35 SLC7A5 SLC3A2 SFTPD NEU2 ASS1
3 amino acid transport complex GO:1990184 8.62 SLC7A5 SLC3A2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.95 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A2 SLC7A11
2 leukocyte migration GO:0050900 9.85 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11 SLC3A2
3 carbohydrate metabolic process GO:0005975 9.81 SLC3A2 SLC3A1 NEU2 G6PD
4 response to toxic substance GO:0009636 9.72 SLC7A8 SLC7A11 ASS1
5 cellular amino acid biosynthetic process GO:0008652 9.65 OTC ASS1 ASL
6 amino acid transmembrane transport GO:0003333 9.65 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11
7 urea cycle GO:0000050 9.62 OTC NAGS ASS1 ASL
8 response to zinc ion GO:0010043 9.56 OTC ASS1
9 neutral amino acid transport GO:0015804 9.54 SLC7A8 SLC7A5
10 midgut development GO:0007494 9.52 OTC ASS1
11 basic amino acid transmembrane transport GO:1990822 9.49 SLC7A7 SLC3A1
12 arginine biosynthetic process via ornithine GO:0042450 9.46 OTC ASL
13 arginine biosynthetic process GO:0006526 9.46 OTC NAGS ASS1 ASL
14 L-amino acid transport GO:0015807 9.43 SLC7A8 SLC7A5
15 L-alpha-amino acid transmembrane transport GO:1902475 9.35 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC3A2
16 amino acid transport GO:0006865 9.23 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A2 SLC7A11

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 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A2 SLC7A11
2 basic amino acid transmembrane transporter activity GO:0015174 9.43 SLC7A7 SLC7A2 SLC3A1
3 amino acid binding GO:0016597 9.37 OTC ASS1
4 amino acid transmembrane transporter activity GO:0015171 9.35 SLC7A8 SLC7A6 SLC7A5 SLC7A2 SLC3A1
5 neutral amino acid transmembrane transporter activity GO:0015175 9.32 SLC7A8 SLC3A2
6 L-amino acid transmembrane transporter activity GO:0015179 9.02 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11

Sources for Lysinuric Protein Intolerance

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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