Details of Disease

General Information of Disease (ID: DIS5F4A8)

• Disease Name: Lysinuric protein intolerance
• Synonyms: lysinuric PROTEIN intolerance; dibasic aminoaciduria 2; dibasic amino aciduria 2; Dibasicamino aciduria II; lysinuric protein intolerance; hyperdibasic aminoaciduria type 2; dibasic amino aciduria II; LPI; hyperdibasic aminoaciduria
• Definition: Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.
• Disease Hierarchy:
  DIS1BLHT: Inborn disorder of amino acid transport
  DIS5F4A8: Lysinuric protein intolerance
• Disease Identifiers:
  MONDO ID: MONDO_0009109
  MESH ID: C562687
  UMLS CUI: C0268647
  OMIM ID: 222700
  MedGen ID: 75704
  Orphanet ID: 470
  SNOMED CT ID: 303852004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MYH7	TTNIMDP	Strong	Biomarker	[1]
OAT	TTTSCQ2	Strong	Biomarker	[2]
SLC3A2	TT5CZSM	Strong	Biomarker	[3]
SLC7A5	TTPH2JB	Strong	Genetic Variation	[4]

This Disease Is Related to 5 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC7A2	DTWY9RT	Strong	Biomarker	[5]
SLC7A7	DTE4HJ8	Strong	Genetic Variation	[6]
SLC7A8	DTJF3DX	Strong	Altered Expression	[7]
SLC7A9	DTP7AEQ	Strong	Biomarker	[8]
SLC7A7	DTE4HJ8	Definitive	Autosomal recessive	[9]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NAGS	DEGI1A9	Strong	Biomarker	[10]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LAT	OTZC1XZ1	Strong	Genetic Variation	[4]
SLC7A7	OTYNABBR	Definitive	Autosomal recessive	[9]

References

• [1] Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report.Prenat Diagn. 1999 Aug;19(8):771-3.
• [2] Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts.J Inherit Metab Dis. 1989;12(1):33-40. doi: 10.1007/BF01805528.
• [3] Prioritization of SNPs in y+LAT-1 culpable of Lysinuric protein intolerance and their mutational impacts using protein-protein docking and molecular dynamics simulation studies.J Cell Biochem. 2019 Oct;120(10):18496-18508. doi: 10.1002/jcb.29172. Epub 2019 Jun 18.
• [4] Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease.Int J Mol Sci. 2019 Oct 24;20(21):5294. doi: 10.3390/ijms20215294.
• [5] Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance.Hum Genet. 1997 Jul;100(1):80-3. doi: 10.1007/s004390050469.
• [6] y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance.J Cell Mol Med. 2020 Jan;24(1):921-929. doi: 10.1111/jcmm.14801. Epub 2019 Nov 9.
• [7] SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family.Genomics. 1999 Dec 1;62(2):297-303. doi: 10.1006/geno.1999.5978.
• [8] The molecular bases of cystinuria and lysinuric protein intolerance.Curr Opin Genet Dev. 2001 Jun;11(3):328-35. doi: 10.1016/s0959-437x(00)00198-2.
• [9] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [10] Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.Orphanet J Rare Dis. 2018 Oct 1;13(1):174. doi: 10.1186/s13023-018-0908-1.