LPI
MCID: LYS003
MIFTS: 54

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 57 12 75 24 53 25 59 74 37 29 13 55 6 44 15 40 72
Lpi 57 12 53 25 59 74
Dibasic Amino Aciduria Ii 57 12 74
Hyperdibasic Aminoaciduria 12 25
Dibasic Aminoaciduria 2 75 53
Lpi - Lysinuric Protein Intolerance 25
Hyperdibasic Aminoaciduria Type 2 59
Dibasicamino Aciduria Ii 53
Congenital Lysinuria 25

Characteristics:

Orphanet epidemiological data:

59
lysinuric protein intolerance
Prevalence: 1-9/100000 (Italy),1-9/100000 (Finland); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
lysinuric protein intolerance:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060439
OMIM 57 222700
KEGG 37 H00899
NCIt 50 C121563
SNOMED-CT 68 13138006
ICD10 via Orphanet 34 E72.0
UMLS via Orphanet 73 C0268647
Orphanet 59 ORPHA470
MedGen 42 C0268647
UMLS 72 C0268647

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 orotic aciduria and carbonic anhydrase va deficiency, hyperammonemia due to, 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 osteopenia

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 : 53 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 : 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)

KEGG : 37
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 : 74 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 : 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 95)
# Related Disease Score Top Affiliating Genes
1 orotic aciduria 32.4 SLC7A7 OTC ASS1
2 carbonic anhydrase va deficiency, hyperammonemia due to 31.3 OTC ASS1
3 urea cycle disorder 30.6 OTC ASS1
4 citrullinemia, classic 30.2 OTC ASS1
5 argininosuccinic aciduria 30.0 OTC ASS1
6 cystinuria 29.1 SLC7A7 SLC7A11 SLC3A2 SLC3A1
7 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.8
8 dibasic amino aciduria i 11.5
9 autosomal recessive disease 10.8
10 pulmonary alveolar proteinosis 10.7
11 aminoaciduria 10.7
12 ocular motor apraxia 10.6
13 lung disease 10.6
14 interstitial lung disease 10.5
15 osteoporosis 10.5
16 bone mineral density quantitative trait locus 8 10.5
17 bone mineral density quantitative trait locus 15 10.5
18 hypotonia 10.5
19 systemic lupus erythematosus 10.4
20 hemophagocytic lymphohistiocytosis 10.4
21 thrombocytopenia 10.4
22 glomerulonephritis 10.4
23 end stage renal failure 10.4
24 metabolic acidosis 10.3
25 respiratory failure 10.3
26 diarrhea 10.3
27 chickenpox 10.3
28 lupus erythematosus 10.3
29 growth hormone deficiency 10.3
30 splenomegaly 10.3
31 fanconi syndrome 10.2
32 neutropenia 10.2
33 idiopathic interstitial pneumonia 10.2
34 acute pancreatitis 10.2
35 membranoproliferative glomerulonephritis 10.2
36 pulmonary fibrosis 10.2
37 inherited metabolic disorder 10.2
38 vasculitis 10.2
39 encephalopathy 10.2
40 thalassemia 10.2
41 hemosiderosis 10.2
42 rare hereditary hemochromatosis 10.2
43 autoimmune disease 10.1
44 fanconi renotubular syndrome 1 10.1
45 fibrosis of extraocular muscles, congenital, 1 10.1
46 hypercholesterolemia, familial, 1 10.1
47 hypertriglyceridemia, familial 10.1
48 down syndrome 10.1
49 celiac disease 1 10.1
50 lactase deficiency, congenital 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:

59 32 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
5 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
6 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
7 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
8 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
9 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
10 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
11 hypertriglyceridemia 59 32 frequent (33%) Frequent (79-30%) HP:0002155
12 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
13 abnormal bleeding 59 32 frequent (33%) Frequent (79-30%) HP:0001892
14 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
15 cirrhosis 59 32 frequent (33%) Frequent (79-30%) HP:0001394
16 elevated hepatic transaminase 59 32 frequent (33%) Frequent (79-30%) HP:0002910
17 thrombocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001873
18 increased ldl cholesterol concentration 59 32 frequent (33%) Frequent (79-30%) HP:0003141
19 hepatic failure 59 32 frequent (33%) Frequent (79-30%) HP:0001399
20 increased lactate dehydrogenase activity 59 32 frequent (33%) Frequent (79-30%) HP:0025435
21 hypercholesterolemia 59 32 frequent (33%) Frequent (79-30%) HP:0003124
22 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
23 hyperammonemia 59 32 frequent (33%) Frequent (79-30%) HP:0001987
24 hepatosplenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001433
25 hyperglutaminemia 59 32 frequent (33%) Frequent (79-30%) HP:0003217
26 leukopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001882
27 hyperalaninemia 59 32 frequent (33%) Frequent (79-30%) HP:0003348
28 oral aversion 59 32 frequent (33%) Frequent (79-30%) HP:0012523
29 infantile muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0008947
30 steatorrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002570
31 elevated plasma citrulline 59 32 frequent (33%) Frequent (79-30%) HP:0011966
32 decreased hdl cholesterol concentration 59 32 frequent (33%) Frequent (79-30%) HP:0003233
33 hyperglycinemia 59 32 frequent (33%) Frequent (79-30%) HP:0002154
34 bone marrow hypercellularity 59 32 frequent (33%) Frequent (79-30%) HP:0031020
35 alveolar proteinosis 59 32 frequent (33%) Frequent (79-30%) HP:0006517
36 argininuria 59 32 frequent (33%) Frequent (79-30%) HP:0003268
37 hyperlysinuria 59 32 frequent (33%) Frequent (79-30%) HP:0003297
38 hyperprolinemia 59 32 frequent (33%) Frequent (79-30%) HP:0008358
39 hemophagocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0012156
40 decreased glomerular filtration rate 59 32 frequent (33%) Frequent (79-30%) HP:0012213
41 abnormal circulating serine concentration 32 frequent (33%) HP:0012278
42 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001733
43 coma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001259
44 lethargy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001254
45 oroticaciduria 59 32 occasional (7.5%) Occasional (29-5%) HP:0003218
46 increased serum ferritin 59 32 occasional (7.5%) Occasional (29-5%) HP:0003281
47 abnormal heart morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001627
48 tubulointerstitial nephritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001970
49 hypofibrinogenemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011900
50 renal amyloidosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001917

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.17 ASS1 OTC SLC3A1 SLC3A2 SLC7A11 SLC7A2

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:

41
Kidney, Bone, Lung, Heart, Liver, Testes, Spleen

Publications for Lysinuric Protein Intolerance

Articles related to Lysinuric Protein Intolerance:

(show top 50) (show all 243)
# Title Authors PMID Year
1
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. 9 38 4 8 71
18716612 2009
2
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. 9 38 4 8 71
17764084 2008
3
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. 9 38 4 8 71
10080182 1999
4
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. 9 38 4 8 71
10080183 1999
5
Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). 38 4 8 71
10655553 2000
6
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. 9 38 8 71
10737982 2000
7
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. 9 38 4 71
10631139 2000
8
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood. 38 4 6
28057010 2017
9
Genetic homogeneity of lysinuric protein intolerance. 9 38 8
9887380 1998
10
Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. 9 38 8
9199570 1997
11
Lysinuric Protein Intolerance 38 71
20301535 2006
12
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. 9 38 4
15776427 2005
13
Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. 9 38 4
12402335 2002
14
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report. 38 8
10451527 1999
15
Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance. 38 8
9931537 1999
16
Necropsy findings in lysinuric protein intolerance. 38 8
8655715 1996
17
Immune complex disease consistent with systemic lupus erythematosus in a patient with lysinuric protein intolerance. 38 8
8892019 1996
18
Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of four pediatric patients. 38 8
8163273 1994
19
Familial lysinuric protein intolerance presenting as coma in two adult siblings. 38 8
2732736 1989
20
Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes. 38 8
3143662 1988
21
Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy. 38 8
3917550 1985
22
Renal transport of lysine and arginine in lysinuric protein intolerance. 38 8
6819142 1982
23
Lysinuric protein intolerance. Basolateral transport defect in renal tubuli. 38 8
7204568 1981
24
Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine. 38 8
6777479 1980
25
Lysinuric protein intolerance. 38 8
1155480 1975
26
Lysinuric protein intolerance, an autosomal recessive disease. A genetic study of 10 Finnish families. 38 8
5146580 1971
27
Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions. 38 4
28087478 2017
28
Clinical and genetic features of lysinuric protein intolerance in Japan. 38 4
26865117 2016
29
Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI. 38 4
26122628 2016
30
Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance. 38 4
26608393 2016
31
Lung involvement in children with lysinuric protein intolerance. 38 4
25335805 2015
32
Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature. 38 4
28649527 2015
33
Lysinuric protein intolerance: reviewing concepts on a multisystem disease. 38 4
21308987 2011
34
First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance. 38 4
23430825 2011
35
Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance. 38 4
23430827 2011
36
Combined hyperlipidemia in patients with lysinuric protein intolerance. 38 4
20177788 2010
37
In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages. 38 4
21110863 2010
38
SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance. 38 4
20030831 2009
39
Carnitine deficiency and L-carnitine supplementation in lysinuric protein intolerance. 38 4
18328359 2008
40
Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report. 38 4
17386098 2007
41
First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis. 38 4
17666782 2007
42
Hazards associated with pregnancies and deliveries in lysinuric protein intolerance. 38 4
16423630 2006
43
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. 38 4
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. 38 4
10980538 2000
45
Hyperdibasicaminoaciduria in a mentally retarded homozygote with a peculiar response to phenothiazines. 8
4144453 1973
46
Familial protein intolerance. Possible nature of enzyme defect. 8
5553484 1971
47
Congenital lysinuria: a new inherited transport disorder of dibasic amino acids. 8
5431208 1970
48
Familial protein intolerance with deficient transport of basic amino acids. Report on an adult patient with chronic hyperammonemia. 8
5666624 1968
49
Familial protein intolerance with deficient transport of basic amino acids. An analysis of 10 patients. 8
6076999 1967
50
Protein intolerance with deficient transport of basic aminoacids. Another inborn error of metabolism. 8
4158034 1965

Variations for Lysinuric Protein Intolerance

ClinVar genetic disease variations for Lysinuric Protein Intolerance:

6 (show top 50) (show all 114)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC7A7 NM_001126105.2(SLC7A7): c.1122C> A (p.Cys374Ter) single nucleotide variant Pathogenic 14:23243686-23243686 14:22774477-22774477
2 SLC7A7 SLC7A7, IVS6AS, A-T, -2 single nucleotide variant Pathogenic
3 SLC7A7 SLC7A7, 455-BP DEL, NT197 deletion Pathogenic
4 SLC7A7 NM_001126105.2(SLC7A7): c.1A> C (p.Met1Leu) single nucleotide variant Pathogenic rs121908676 14:23282607-23282607 14:22813398-22813398
5 SLC7A7 NM_001126105.2(SLC7A7): c.1001T> G (p.Leu334Arg) single nucleotide variant Pathogenic rs72552272 14:23244747-23244747 14:22775538-22775538
6 SLC7A7 NM_001126105.2(SLC7A7): c.161G> T (p.Gly54Val) single nucleotide variant Pathogenic rs121908677 14:23282447-23282447 14:22813238-22813238
7 SLC7A7 NM_001126105.2(SLC7A7): c.1228C> T (p.Arg410Ter) single nucleotide variant Pathogenic rs121908678 14:23243580-23243580 14:22774371-22774371
8 SLC7A7 NM_001126105.2(SLC7A7): c.726G> A (p.Trp242Ter) single nucleotide variant Pathogenic rs121908679 14:23248046-23248046 14:22778837-22778837
9 SLC7A7 SLC7A7, EX6-11, DEL deletion Pathogenic
10 SLC7A7 NC_000014.8: g.(?_23242799)_(23245547_?)del deletion Pathogenic 14:23242799-23245547 14:22773590-22776338
11 SLC7A7 NM_001126105.2(SLC7A7): c.1185_1188del (p.Ser396fs) deletion Pathogenic rs386833800 14:23243620-23243623 14:22774411-22774414
12 SLC7A7 NM_001126105.2(SLC7A7): c.1387del (p.Val463fs) deletion Pathogenic rs386833806 14:23243184-23243184 14:22773975-22773975
13 SLC7A7 NM_001126105.2(SLC7A7): c.149T> A (p.Met50Lys) single nucleotide variant Pathogenic rs386833811 14:23282459-23282459 14:22813250-22813250
14 SLC7A7 NM_001126105.2(SLC7A7): c.1095+2del deletion Pathogenic rs1555320639 14:23244651-23244651 14:22775442-22775442
15 SLC7A7 NM_001126105.2(SLC7A7): c.1395del (p.Glu465fs) deletion Pathogenic 14:23243176-23243176 14:22773967-22773967
16 SLC7A7 GRCh37/hg19 14q11.2(chr14: 23242388-23245542) copy number loss Pathogenic 14:23242388-23245542 :0-0
17 SLC7A7 NM_001126105.2(SLC7A7): c.895-2_895delinsCCATT indel Pathogenic 14:23245145-23245147 14:22775936-22775938
18 SLC7A7 NC_000014.8: g.(?_23242799)_(23282627_?)del deletion Pathogenic 14:23242799-23282627 14:22773590-22813418
19 SLC7A7 NM_001126105.2(SLC7A7): c.625+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386833822 14:23249134-23249134 14:22779925-22779925
20 SLC7A7 NM_001126105.2(SLC7A7): c.1381_1384dup (p.Arg462fs) duplication Pathogenic/Likely pathogenic rs386833805 14:23243187-23243190 14:22773978-22773981
21 SLC7A7 NM_001126105.2(SLC7A7): c.1005_1008del (p.Phe335Leufs) deletion Pathogenic/Likely pathogenic rs386833794 14:23244740-23244743 14:22775531-22775534
22 SLC7A7 NM_001126105.2(SLC7A7): c.998+1G> T single nucleotide variant Likely pathogenic rs386833828 14:23245041-23245041 14:22775832-22775832
23 SLC7A7 NM_001126105.2(SLC7A7): c.14C> T (p.Thr5Ile) single nucleotide variant Likely pathogenic rs386833792 14:23282594-23282594 14:22813385-22813385
24 SLC7A7 NM_001126105.2(SLC7A7): c.158C> T (p.Ser53Leu) single nucleotide variant Likely pathogenic rs386833793 14:23282450-23282450 14:22813241-22813241
25 SLC7A7 NM_001126105.2(SLC7A7): c.211_212CT[2] (p.Ser72fs) short repeat Likely pathogenic rs386833812 14:23282390-23282393 14:22813181-22813184
26 SLC7A7 NM_001126105.2(SLC7A7): c.254_255del (p.Phe85fs) deletion Likely pathogenic rs386833813 14:23282353-23282354 14:22813144-22813145
27 SLC7A7 NM_001126105.2(SLC7A7): c.1402C> T (p.Arg468Ter) single nucleotide variant Likely pathogenic rs386833807 14:23243169-23243169 14:22773960-22773960
28 SLC7A7 NM_001126105.2(SLC7A7): c.1417C> T (p.Arg473Ter) single nucleotide variant Likely pathogenic rs386833808 14:23243154-23243154 14:22773945-22773945
29 SLC7A7 NM_001126105.2(SLC7A7): c.1460del (p.Cys487fs) deletion Likely pathogenic rs386833809 14:23242895-23242895 14:22773686-22773686
30 SLC7A7 NM_001126105.2(SLC7A7): c.1465T> C (p.Ser489Pro) single nucleotide variant Likely pathogenic rs386833810 14:23242890-23242890 14:22773681-22773681
31 SLC7A7 NM_001126105.2(SLC7A7): c.1262del (p.Pro421fs) deletion Likely pathogenic rs386833801 14:23243309-23243309 14:22774100-22774100
32 SLC7A7 NM_001126105.2(SLC7A7): c.1273T> C (p.Cys425Arg) single nucleotide variant Likely pathogenic rs386833802 14:23243298-23243298 14:22774089-22774089
33 SLC7A7 NM_001126105.2(SLC7A7): c.1344del (p.Ile449fs) deletion Likely pathogenic rs386833803 14:23243227-23243227 14:22774018-22774018
34 SLC7A7 NM_001126105.2(SLC7A7): c.1371C> A (p.Tyr457Ter) single nucleotide variant Likely pathogenic rs386833804 14:23243200-23243200 14:22773991-22773991
35 SLC7A7 NM_001126105.2(SLC7A7): c.106_108del (p.Glu36del) deletion Likely pathogenic rs386833796 14:23282501-23282503 14:22813292-22813294
36 SLC7A7 NM_001126105.2(SLC7A7): c.1093A> T (p.Asn365Tyr) single nucleotide variant Likely pathogenic rs386833797 14:23244655-23244655 14:22775446-22775446
37 SLC7A7 NM_001126105.2(SLC7A7): c.1147_1151dup (p.Tyr384Ter) duplication Likely pathogenic rs386833798 14:23243657-23243661 14:22774448-22774452
38 SLC7A7 NM_001126105.2(SLC7A7): c.1158C> A (p.Ser386Arg) single nucleotide variant Likely pathogenic rs386833799 14:23243650-23243650 14:22774441-22774441
39 SLC7A7 NM_001126105.2(SLC7A7): c.625+1G> C single nucleotide variant Likely pathogenic rs386833822 14:23249134-23249134 14:22779925-22779925
40 SLC7A7 NM_001126105.2(SLC7A7): c.713C> T (p.Ser238Phe) single nucleotide variant Likely pathogenic rs386833823 14:23248059-23248059 14:22778850-22778850
41 SLC7A7 NM_001126105.2(SLC7A7): c.753G> T (p.Glu251Asp) single nucleotide variant Likely pathogenic rs386833824 14:23248019-23248019 14:22778810-22778810
42 SLC7A7 NM_001126105.2(SLC7A7): c.782T> C (p.Leu261Pro) single nucleotide variant Likely pathogenic rs386833825 14:23245516-23245516 14:22776307-22776307
43 SLC7A7 NM_001126105.2(SLC7A7): c.820dup (p.Tyr274fs) duplication Likely pathogenic rs386833826 14:23245478-23245478 14:22776269-22776269
44 SLC7A7 NM_001126105.2(SLC7A7): c.894+1G> T single nucleotide variant Likely pathogenic rs386833827 14:23245403-23245403 14:22776194-22776194
45 SLC7A7 NM_001126105.2(SLC7A7): c.895-2A> G single nucleotide variant Likely pathogenic rs146582474 14:23245147-23245147 14:22775938-22775938
46 SLC7A7 NM_001126105.2(SLC7A7): c.998G> T (p.Arg333Met) single nucleotide variant Likely pathogenic rs386833829 14:23245042-23245042 14:22775833-22775833
47 SLC7A7 NM_001126105.2(SLC7A7): c.371T> C (p.Leu124Pro) single nucleotide variant Likely pathogenic rs386833814 14:23282237-23282237 14:22813028-22813028
48 SLC7A7 NM_001126105.2(SLC7A7): c.418G> C (p.Ala140Pro) single nucleotide variant Likely pathogenic rs386833815 14:23282190-23282190 14:22812981-22812981
49 SLC7A7 NM_001126105.2(SLC7A7): c.454T> C (p.Phe152Leu) single nucleotide variant Likely pathogenic rs386833816 14:23282154-23282154 14:22812945-22812945
50 SLC7A7 NM_001126105.2(SLC7A7): c.499+1G> A single nucleotide variant Likely pathogenic rs386833817 14:23282108-23282108 14:22812899-22812899

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

74 (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 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:

37
# 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 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A2 SLC7A11
2
Show member pathways
12.88 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11 SLC3A2
3
Show member pathways
12.43 SLC7A8 SLC7A7 SLC3A2 SLC3A1
4 12.16 SLC7A5 SLC7A11 SLC3A2 ASS1
5
Show member pathways
11.88 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11 SLC3A2
6 11.08 SLC7A11 SLC3A2
7
Show member pathways
10.87 OTC ASS1
8 10.85 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11 SLC3A2
9
Show member pathways
10.81 OTC ASS1
10
Show member pathways
10.74 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A2 SLC7A11

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 integral component of membrane GO:0016021 9.86 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A2 SLC7A11
2 plasma membrane GO:0005886 9.56 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A2 SLC7A11
3 integral component of plasma membrane GO:0005887 9.55 SLC7A8 SLC7A7 SLC7A6 SLC7A2 SLC3A1
4 brush border membrane GO:0031526 9.32 SLC7A11 SLC3A1
5 basolateral plasma membrane GO:0016323 8.8 SLC7A8 SLC7A7 SLC7A6

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.85 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A2 SLC7A11
2 leukocyte migration GO:0050900 9.8 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11 SLC3A2
3 response to toxic substance GO:0009636 9.65 SLC7A8 SLC7A11 ASS1
4 amino acid transmembrane transport GO:0003333 9.65 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A11
5 cellular amino acid biosynthetic process GO:0008652 9.55 OTC ASS1
6 response to zinc ion GO:0010043 9.54 OTC ASS1
7 neutral amino acid transport GO:0015804 9.52 SLC7A8 SLC7A5
8 urea cycle GO:0000050 9.51 OTC ASS1
9 cellular amino acid metabolic process GO:0006520 9.5 SLC7A8 SLC7A7 SLC7A6 SLC7A5 SLC7A2 SLC3A1
10 midgut development GO:0007494 9.49 OTC ASS1
11 arginine biosynthetic process GO:0006526 9.46 OTC ASS1
12 L-alpha-amino acid transmembrane transport GO:1902475 9.46 SLC7A8 SLC7A7 SLC7A6 SLC7A5
13 basic amino acid transmembrane transport GO:1990822 9.43 SLC7A7 SLC3A1
14 L-amino acid transport GO:0015807 9.4 SLC7A8 SLC7A5
15 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 neutral amino acid transmembrane transporter activity GO:0015175 9.5 SLC7A8 SLC7A5 SLC3A2
3 basic amino acid transmembrane transporter activity GO:0015174 9.43 SLC7A7 SLC7A2 SLC3A1
4 peptide antigen binding GO:0042605 9.4 SLC7A8 SLC7A5
5 amino acid binding GO:0016597 9.37 OTC ASS1
6 amino acid transmembrane transporter activity GO:0015171 9.35 SLC7A8 SLC7A6 SLC7A5 SLC7A2 SLC3A1
7 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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