MCID: LYS003
MIFTS: 53

Lysinuric Protein Intolerance

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Lysinuric Protein Intolerance

MalaCards integrated aliases for Lysinuric Protein Intolerance:

Name: Lysinuric Protein Intolerance 54 12 23 50 24 25 56 71 29 13 52 42 14 69
Lpi 12 50 24 25 56 71
Hyperdibasic Aminoaciduria 12 25
Dibasic Amino Aciduria Ii 12 71
Cationic Aminoaciduria 23 24
Lpi - Lysinuric Protein Intolerance 25
Hyperdibasic Aminoaciduria Type 2 56
Dibasicamino Aciduria Ii 50
Dibasic Aminoaciduria 2 50
Congenital Lysinuria 25

Characteristics:

Orphanet epidemiological data:

56
lysinuric protein intolerance
Prevalence: 1-9/100000 (Italy),1-9/100000 (Finland); Age of onset: Infancy,Neonatal;

OMIM:

54
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:
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


Summaries for Lysinuric Protein Intolerance

NIH Rare Diseases : 50 lysinuric protein intolerance is a metabolic disorder caused by the body's inability to digest and use the amino acids lysine, arginine, and ornithine. because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting protein. other features associated with protein intolerance may also occur, including short stature, muscle weakness, impaired immune function, and osteoporosis. a lung disorder called pulmonary alveolar proteinosis may develop in some individuals, as can end-stage renal disease, coma and intellectual disability. symptoms usually develop after infants are weaned and begin to eat solid foods. lysinuric protein intolerance is caused by mutations in the slc7a7 gene. it is inherited in an autosomal recessive manner. last updated: 11/15/2010

MalaCards based summary : Lysinuric Protein Intolerance, also known as lpi, is related to cystinuria and orotic aciduria, and has symptoms including short stature, failure to thrive 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 glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include kidney, lung and skin, and related phenotype is immune system.

Disease Ontology : 12 An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has material basis in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11.

Genetics Home Reference : 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.

OMIM : 54
Lysinuric protein intolerance is caused by defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in kidney and intestine. Metabolic derangement is characterized by increased renal excretion of CAA, reduced CAA absorption from intestine, and orotic aciduria (Borsani et al., 1999). See also dibasic amino aciduria I (222690). (222700)

UniProtKB/Swiss-Prot : 71 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 : 72 Lysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria type 2,cationic... more...

GeneReviews: NBK1361

Related Diseases for Lysinuric Protein Intolerance

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



Diseases related to Lysinuric Protein Intolerance

Symptoms & Phenotypes for Lysinuric Protein Intolerance

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive
centripetal obesity
thin extremities

Skeletal:
delayed bone age
osteoporosis
frequent fractures

Abdomen- Liver:
hepatomegaly

Hematology:
thrombocytopenia
anemia
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

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

Abdomen- Spleen:
splenomegaly

Abdomen- Pancreas:
pancreatitis

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

Skin Nails & Hair- Hair:
thin, sparse hair

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

Human phenotypes related to Lysinuric Protein Intolerance:

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

UMLS symptoms related to Lysinuric Protein Intolerance:


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

MGI Mouse Phenotypes related to Lysinuric Protein Intolerance:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.1 ASL ASS1 SLC3A1 SLC3A2 SLC7A2 SLC7A7

Drugs & Therapeutics for Lysinuric Protein Intolerance

Search Clinical Trials , NIH Clinical Center for Lysinuric Protein Intolerance

Cochrane evidence based reviews: lysinuric protein intolerance

Genetic Tests for Lysinuric Protein Intolerance

Genetic tests related to Lysinuric Protein Intolerance:

id Genetic test Affiliating Genes
1 Lysinuric Protein Intolerance 29 24 SLC7A7

Anatomical Context for Lysinuric Protein Intolerance

MalaCards organs/tissues related to Lysinuric Protein Intolerance:

39
Kidney, Lung, Skin, Bone, Bone Marrow, Breast, Skeletal Muscle

Publications for Lysinuric Protein Intolerance

Articles related to Lysinuric Protein Intolerance:

(show top 50) (show all 151)
id Title Authors Year
1
Renal involvement in Lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions. ( 28087478 )
2017
2
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood. ( 28057010 )
2017
3
Biochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance. ( 28028301 )
2016
4
Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance. ( 27783330 )
2016
5
Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI). ( 27506743 )
2016
6
Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy. ( 27567650 )
2016
7
Clinical and genetic features of Japanese patients with lysinuric protein intolerance. ( 26865117 )
2016
8
Unusual association between lysinuric protein intolerance and moyamoya vasculopathy. ( 27321952 )
2016
9
Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature. ( 25614305 )
2015
10
1471 delTTCT a Common Mutation of Tunisian Patients with Lysinuric Protein Intolerance. ( 26882824 )
2015
11
Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature. ( 28649527 )
2015
12
Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance. ( 26608393 )
2015
13
Lysinuric Protein Intolerance Presenting with Multiple Fractures. ( 25419514 )
2014
14
Fanconi syndrome with lysinuric protein intolerance. ( 25859380 )
2014
15
Lung involvement in children with lysinuric protein intolerance. ( 25335805 )
2014
16
Interactions of y+LAT1 and 4F2hc in the y+l amino acid transporter complex: consequences of lysinuric protein intolerance-causing mutations. ( 23940088 )
2013
17
Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance. ( 23358709 )
2013
18
Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance. ( 24142278 )
2013
19
Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance. ( 23542076 )
2013
20
Pregnancy delivery and puerperium in a patient with lysinuric protein intolerance--a case report. ( 24032281 )
2013
21
Lysinuric protein intolerance can be misdiagnosed as food protein-induced enterocolitis syndrome. ( 23772603 )
2013
22
Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder. ( 22402328 )
2012
23
Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance. ( 22325938 )
2012
24
Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI). ( 22221392 )
2012
25
The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence. ( 22876067 )
2012
26
Early-onset hepatic fibrosis in lysinuric protein intolerance. ( 21716135 )
2011
27
Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance. ( 23430827 )
2011
28
Lysinuric protein intolerance: reviewing concepts on a multisystem disease. ( 21308987 )
2011
29
First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance. ( 23430825 )
2011
30
Combined hyperlipidemia in patients with lysinuric protein intolerance. ( 20177788 )
2010
31
In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages. ( 21110863 )
2010
32
Breast milk and gene delivery: is lysinuric protein intolerance an exemplar? ( 20674423 )
2010
33
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. ( 18716612 )
2009
34
SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance. ( 20030831 )
2009
35
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. ( 18846669 )
2008
36
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. ( 18846673 )
2008
37
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. ( 18846672 )
2008
38
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. ( 18846671 )
2008
39
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. ( 18846670 )
2008
40
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. ( 18846668 )
2008
41
Carnitine deficiency and L-carnitine supplementation in lysinuric protein intolerance. ( 18328359 )
2008
42
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. ( 17764084 )
2008
43
Nutrient intake in lysinuric protein intolerance. ( 17588131 )
2007
44
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. ( 17376816 )
2007
45
Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance. ( 17530437 )
2007
46
Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report. ( 17386098 )
2007
47
Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance. ( 17517249 )
2007
48
Haemophagocytosis by myeloid precursors in lysinuric protein intolerance. ( 17474972 )
2007
49
Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7. ( 17196863 )
2007
50
First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis. ( 17666782 )
2007

Variations for Lysinuric Protein Intolerance

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

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

ClinVar genetic disease variations for Lysinuric Protein Intolerance:

6 (show top 50) (show all 52)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC7A7 SLC7A7, IVS6AS, A-T, -2 single nucleotide variant Pathogenic
2 SLC7A7 SLC7A7, 455-BP DEL, NT197 deletion Pathogenic
3 SLC7A7 SLC7A7, 4-BP INS, 1384ATCA insertion Pathogenic
4 SLC7A7 NM_001126105.2(SLC7A7): c.1A> C (p.Met1Leu) single nucleotide variant Pathogenic rs121908676 GRCh37 Chromosome 14, 23282607: 23282607
5 SLC7A7 NM_001126105.2(SLC7A7): c.1001T> G (p.Leu334Arg) single nucleotide variant Pathogenic rs72552272 GRCh37 Chromosome 14, 23244747: 23244747
6 SLC7A7 SLC7A7, 4-BP DEL, 1005CTTT deletion Pathogenic
7 SLC7A7 NM_001126105.2(SLC7A7): c.161G> T (p.Gly54Val) single nucleotide variant Pathogenic rs121908677 GRCh37 Chromosome 14, 23282447: 23282447
8 SLC7A7 NM_001126105.2(SLC7A7): c.1228C> T (p.Arg410Ter) single nucleotide variant Pathogenic rs121908678 GRCh37 Chromosome 14, 23243580: 23243580
9 SLC7A7 SLC7A7, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
10 SLC7A7 NM_001126105.2(SLC7A7): c.726G> A (p.Trp242Ter) single nucleotide variant Pathogenic rs121908679 GRCh37 Chromosome 14, 23248046: 23248046
11 SLC7A7 SLC7A7, EX6-11, DEL deletion Pathogenic
12 SLC7A7 NM_001126105.2(SLC7A7): c.14C> T (p.Thr5Ile) single nucleotide variant Likely pathogenic rs386833792 GRCh37 Chromosome 14, 23282594: 23282594
13 SLC7A7 NM_001126105.2(SLC7A7): c.158C> T (p.Ser53Leu) single nucleotide variant Likely pathogenic rs386833793 GRCh37 Chromosome 14, 23282450: 23282450
14 SLC7A7 NM_001126105.2(SLC7A7): c.1005_1008delCTTT (p.Phe335Leufs) deletion Likely pathogenic rs386833794 GRCh37 Chromosome 14, 23244740: 23244743
15 SLC7A7 NM_001126105.2(SLC7A7): c.1013G> A (p.Gly338Asp) single nucleotide variant Likely pathogenic rs386833795 GRCh37 Chromosome 14, 23244735: 23244735
16 SLC7A7 NM_001126105.2(SLC7A7): c.105_107delGGA (p.Glu36del) deletion Likely pathogenic rs386833796 GRCh37 Chromosome 14, 23282501: 23282503
17 SLC7A7 NM_001126105.2(SLC7A7): c.1093A> T (p.Asn365Tyr) single nucleotide variant Likely pathogenic rs386833797 GRCh37 Chromosome 14, 23244655: 23244655
18 SLC7A7 NM_001126105.2(SLC7A7): c.1147_1151dupAACTA (p.Tyr384Terfs) duplication Likely pathogenic rs386833798 GRCh37 Chromosome 14, 23243657: 23243661
19 SLC7A7 NM_001126105.2(SLC7A7): c.1158C> A (p.Ser386Arg) single nucleotide variant Likely pathogenic rs386833799 GRCh37 Chromosome 14, 23243650: 23243650
20 SLC7A7 NM_001126105.2(SLC7A7): c.1185_1188delTTCT (p.Ser396Leufs) deletion Likely pathogenic rs386833800 GRCh37 Chromosome 14, 23243620: 23243623
21 SLC7A7 NM_001126105.2(SLC7A7): c.1262delC (p.Pro421Argfs) deletion Likely pathogenic rs386833801 GRCh37 Chromosome 14, 23243309: 23243309
22 SLC7A7 NM_001126105.2(SLC7A7): c.1273T> C (p.Cys425Arg) single nucleotide variant Likely pathogenic rs386833802 GRCh37 Chromosome 14, 23243298: 23243298
23 SLC7A7 NM_001126105.2(SLC7A7): c.1344delC (p.Ile449Leufs) deletion Likely pathogenic rs386833803 GRCh37 Chromosome 14, 23243227: 23243227
24 SLC7A7 NM_001126105.2(SLC7A7): c.1371C> A (p.Tyr457Ter) single nucleotide variant Likely pathogenic rs386833804 GRCh37 Chromosome 14, 23243200: 23243200
25 SLC7A7 NM_001126105.2(SLC7A7): c.1381_1384dupATCA (p.Arg462Asnfs) duplication Likely pathogenic rs386833805 GRCh37 Chromosome 14, 23243187: 23243190
26 SLC7A7 NM_001126105.2(SLC7A7): c.1387delG (p.Val463Cysfs) deletion Likely pathogenic rs386833806 GRCh37 Chromosome 14, 23243184: 23243184
27 SLC7A7 NM_001126105.2(SLC7A7): c.1402C> T (p.Arg468Ter) single nucleotide variant Likely pathogenic rs386833807 GRCh37 Chromosome 14, 23243169: 23243169
28 SLC7A7 NM_001126105.2(SLC7A7): c.1417C> T (p.Arg473Ter) single nucleotide variant Likely pathogenic rs386833808 GRCh37 Chromosome 14, 23243154: 23243154
29 SLC7A7 NM_001126105.2(SLC7A7): c.1460delG (p.Cys487Leufs) deletion Likely pathogenic rs386833809 GRCh37 Chromosome 14, 23242895: 23242895
30 SLC7A7 NM_001126105.2(SLC7A7): c.895-2A> G single nucleotide variant Likely pathogenic rs146582474 GRCh37 Chromosome 14, 23245147: 23245147
31 SLC7A7 NM_001126105.2(SLC7A7): c.1465T> C (p.Ser489Pro) single nucleotide variant Likely pathogenic rs386833810 GRCh37 Chromosome 14, 23242890: 23242890
32 SLC7A7 NM_001126105.2(SLC7A7): c.149T> A (p.Met50Lys) single nucleotide variant Likely pathogenic rs386833811 GRCh37 Chromosome 14, 23282459: 23282459
33 SLC7A7 NM_001126105.2(SLC7A7): c.215_218delCTCT (p.Ser72Trpfs) deletion Likely pathogenic rs386833812 GRCh37 Chromosome 14, 23282390: 23282393
34 SLC7A7 NM_001126105.2(SLC7A7): c.254_255delTT (p.Phe85Trpfs) deletion Likely pathogenic rs386833813 GRCh37 Chromosome 14, 23282353: 23282354
35 SLC7A7 NM_001126105.2(SLC7A7): c.371T> C (p.Leu124Pro) single nucleotide variant Likely pathogenic rs386833814 GRCh37 Chromosome 14, 23282237: 23282237
36 SLC7A7 NM_001126105.2(SLC7A7): c.418G> C (p.Ala140Pro) single nucleotide variant Likely pathogenic rs386833815 GRCh37 Chromosome 14, 23282190: 23282190
37 SLC7A7 NM_001126105.2(SLC7A7): c.454T> C (p.Phe152Leu) single nucleotide variant Likely pathogenic rs386833816 GRCh37 Chromosome 14, 23282154: 23282154
38 SLC7A7 NM_001126105.2(SLC7A7): c.499+1G> A single nucleotide variant Likely pathogenic rs386833817 GRCh37 Chromosome 14, 23282108: 23282108
39 SLC7A7 NM_001126105.2(SLC7A7): c.545dupT (p.Val183Glyfs) duplication Likely pathogenic rs386833818 GRCh37 Chromosome 14, 23249215: 23249215
40 SLC7A7 NM_001126105.2(SLC7A7): c.563C> T (p.Thr188Ile) single nucleotide variant Likely pathogenic rs386833819 GRCh37 Chromosome 14, 23249197: 23249197
41 SLC7A7 NM_001126105.2(SLC7A7): c.571A> G (p.Lys191Glu) single nucleotide variant Likely pathogenic rs386833820 GRCh37 Chromosome 14, 23249189: 23249189
42 SLC7A7 NM_001126105.2(SLC7A7): c.622C> T (p.Gln208Ter) single nucleotide variant Likely pathogenic rs386833821 GRCh37 Chromosome 14, 23249138: 23249138
43 SLC7A7 NM_001126105.2(SLC7A7): c.625+1G> A single nucleotide variant Likely pathogenic rs386833822 GRCh37 Chromosome 14, 23249134: 23249134
44 SLC7A7 NM_001126105.2(SLC7A7): c.625+1G> C single nucleotide variant Likely pathogenic rs386833822 GRCh37 Chromosome 14, 23249134: 23249134
45 SLC7A7 NM_001126105.2(SLC7A7): c.713C> T (p.Ser238Phe) single nucleotide variant Likely pathogenic rs386833823 GRCh37 Chromosome 14, 23248059: 23248059
46 SLC7A7 NM_001126105.2(SLC7A7): c.753G> T (p.Glu251Asp) single nucleotide variant Likely pathogenic rs386833824 GRCh37 Chromosome 14, 23248019: 23248019
47 SLC7A7 NM_001126105.2(SLC7A7): c.782T> C (p.Leu261Pro) single nucleotide variant Likely pathogenic rs386833825 GRCh37 Chromosome 14, 23245516: 23245516
48 SLC7A7 NM_001126105.2(SLC7A7): c.820dupT (p.Tyr274Leufs) duplication Likely pathogenic rs386833826 GRCh37 Chromosome 14, 23245478: 23245478
49 SLC7A7 NM_001126105.2(SLC7A7): c.894+1G> T single nucleotide variant Likely pathogenic rs386833827 GRCh37 Chromosome 14, 23245403: 23245403
50 SLC7A7 NM_001126105.2(SLC7A7): c.998+1G> T single nucleotide variant Likely pathogenic rs386833828 GRCh37 Chromosome 14, 23245041: 23245041

Copy number variations for Lysinuric Protein Intolerance from CNVD:

7
id 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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 SLC3A1 SLC3A2 SLC7A2 SLC7A5 SLC7A6 SLC7A7
2
Show member pathways
12.88 SLC3A2 SLC7A5 SLC7A6 SLC7A7 SLC7A8
3
Show member pathways
12.39 SLC3A1 SLC3A2 SLC7A7 SLC7A8
4
Show member pathways
11.81 SLC3A2 SLC7A5 SLC7A6 SLC7A7 SLC7A8
5 11.02 ASL ASS1
6
Show member pathways
10.96 ASL ASS1
7
Show member pathways
10.81 ASL ASS1
8 10.79 SLC3A2 SLC7A5 SLC7A6 SLC7A7 SLC7A8
9
Show member pathways
10.69 SLC3A1 SLC3A2 SLC7A2 SLC7A5 SLC7A6 SLC7A7
10
Show member pathways
10.44 ASL ASS1

GO Terms for Lysinuric Protein Intolerance

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.8 SLC3A1 SLC3A2 SLC7A2 SLC7A5 SLC7A6 SLC7A7
2 extracellular exosome GO:0070062 9.63 ASL ASS1 SLC3A1 SLC3A2 SLC7A5 SLC7A8
3 basolateral plasma membrane GO:0016323 9.13 SLC7A6 SLC7A7 SLC7A8
4 integral component of plasma membrane GO:0005887 9.1 SLC3A1 SLC7A2 SLC7A5 SLC7A6 SLC7A7 SLC7A8

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.95 SLC3A1 SLC3A2 SLC7A2 SLC7A5 SLC7A6 SLC7A7
2 leukocyte migration GO:0050900 9.77 SLC3A2 SLC7A5 SLC7A6 SLC7A7 SLC7A8
3 L-amino acid transport GO:0015807 9.56 SLC7A5 SLC7A6 SLC7A7 SLC7A8
4 L-alpha-amino acid transmembrane transport GO:1902475 9.55 SLC3A2 SLC7A5 SLC7A6 SLC7A7 SLC7A8
5 cellular amino acid biosynthetic process GO:0008652 9.51 ASL ASS1
6 basic amino acid transmembrane transport GO:1990822 9.5 SLC3A1 SLC7A2 SLC7A7
7 amino acid transmembrane transport GO:0003333 9.49 SLC7A2 SLC7A7
8 neutral amino acid transport GO:0015804 9.48 SLC7A5 SLC7A8
9 urea cycle GO:0000050 9.46 ASL ASS1
10 arginine biosynthetic process GO:0006526 9.43 ASL ASS1
11 cellular amino acid metabolic process GO:0006520 9.43 SLC3A1 SLC7A2 SLC7A5 SLC7A6 SLC7A7 SLC7A8
12 amino acid transport GO:0006865 9.17 SLC3A1 SLC3A2 SLC7A2 SLC7A5 SLC7A6 SLC7A7

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

id Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.58 ASL SLC3A1 SLC3A2
2 antiporter activity GO:0015297 9.56 SLC7A5 SLC7A6 SLC7A7 SLC7A8
3 neutral amino acid transmembrane transporter activity GO:0015175 9.5 SLC3A2 SLC7A5 SLC7A8
4 peptide antigen binding GO:0042605 9.37 SLC7A5 SLC7A8
5 basic amino acid transmembrane transporter activity GO:0015174 9.33 SLC3A1 SLC7A2 SLC7A7
6 L-amino acid transmembrane transporter activity GO:0015179 9.26 SLC7A5 SLC7A6 SLC7A7 SLC7A8
7 amino acid transmembrane transporter activity GO:0015171 9.1 SLC3A1 SLC7A2 SLC7A5 SLC7A6 SLC7A7 SLC7A8

Sources for Lysinuric Protein Intolerance

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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