Lysinuric protein intolerance

Preferred Label : Lysinuric protein intolerance;

Symbol : LPI;

CISMeF acronym : LPI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dibasic amino aciduria II;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 7 (cationic amino acid transporter, y system), member 7 gene (SLC7A7, 603593.0001);

Laboratory abnormalities : Urinary excretion of cationic amino acids (lysine, arginine, ornithine); Decreased blood levels of cationic amino acids; Hyperammonemia after protein intake; Orotic aciduria; Increased serum lactate hydrogenase; Increased serum ferritin;

Prefixed ID : #222700;

Details

Origin ID

222700;

UMLS CUI

C0268647;

Automatic exact mappings (from CISMeF team)
- Lymphoplasmacytic Infiltrate [NCIt concept]
- SLC7A7 wt Allele [NCIt concept]
- symbol withdrawn LPI [HGNC gene]
Currated CISMeF NLP mapping
- Hyperdibasic aminoaciduria type 2 [ICD-11 More detail]
- Lysinuric Protein Intolerance [NCIt concept]
- Lysinuric protein intolerance [ICD-11 More detail]
- Lysinuric protein intolerance [MedDRA Preferred Term]
- Lysinuric protein intolerance [ORDO Disease]
- Lysinuric protein intolerance (disorder) [Inactive SNOMED CT concept]
- Lysinuric protein intolerance (disorder) [SNOMED CT concept]
- lysinuric protein intolerance [DO Concept]
- lysinuric protein intolerance [Disease (Nov.)]
- lysinuric protein intolerance [MeSH concept]
- lysinuric protein intolerance [MeSH Supplementary Concept]
- lysinuric protein intolerance, nos [SNOMED Notion]
DO Cross reference
- lysinuric protein intolerance [DO Concept]
Genes related to phenotype
- Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic renal failure [HPO term]
- Coma [HPO term]
- Cutis laxa [HPO term]
- Delayed skeletal maturation [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Fine hair [HPO term]
- Generalized hypotonia [HPO term]
- Hemophagocytosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Hyperextensible skin [HPO term]
- Hypotonia [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Intraalveolar phospholipid accumulation [HPO term]
- Leukopenia [HPO term]
- Malnutrition [HPO term]
- Muscle weakness [HPO term]
- Nausea [HPO term]
- Oroticaciduria [HPO term]
- Osteoporosis [HPO term]
- Pancreatitis [HPO term]
- Psychotic episodes [HPO term]
- Pulmonary hemorrhage [HPO term]
- Recurrent fractures [HPO term]
- Respiratory insufficiency [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Sparse hair [HPO term]
- Sparse, fine hair [HPO term]
- Splenomegaly [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Thin hair [HPO term]
- Thrombocytopenia [HPO term]
- Truncal obesity [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Lysinuric protein intolerance [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperdibasic aminoaciduria type 2 [ICD-11 More detail]
- Lysinuric Protein Intolerance [NCIt concept]
- Lysinuric protein intolerance [MedDRA Preferred Term]
- Lysinuric protein intolerance [ORDO Disease]
- Lysinuric protein intolerance [ICD-11 More detail]
- Lysinuric protein intolerance (disorder) [SNOMED CT concept]
- lysinuric protein intolerance [MeSH Supplementary Concept]
- lysinuric protein intolerance [MeSH concept]
- lysinuric protein intolerance [DO Concept]
- lysinuric protein intolerance [Disease (Nov.)]
- lysinuric protein intolerance, nos [SNOMED Notion]

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