Hyperlysinemia, type I

Preferred Label : Hyperlysinemia, type I;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lysine:alpha-ketoglutarate reductase deficiency; Alpha-aminoadipic semialdehyde synthase deficiency; L-lysine:nad-oxido-reductase deficiency; Lysine intolerance;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-aminoadipic semialdehyde synthase gene (AASS, 605113.0001);

Laboratory abnormalities : Increased plasma and urinary pipecolic acid; Saccharopine dehydrogenase deficiency; Aminoadipic semialdehyde synthase (AASS) deficiency; Lysine-ketoglutarate reductase deficiency; Decreased plasma and urinary ornithine; Increased serum, urinary, and CSF saccharopine (in some patients); Increased serum, urinary, and CSF lysine;

Prefixed ID : #238700;

Details

Origin ID

238700;

UMLS CUI

C0543533;

Automatic exact mappings (from CISMeF team)
- Disorders of lysine and hydroxylysine metabolism [ICD-10 Sub-category (who)]
- Hyperlysinaemia [MedDRA Preferred Term]
- Hyperlysinemia [MedDRA LLT]
- Lysine intolerance (disorder) [SNOMED CT concept]
- Saccharopinuria [MeSH concept]
- lysine intolerance [MeSH concept]
- lysine intolerance [MeSH Supplementary Concept]
- saccharopinuria [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Hyperlysinaemia [ICD-11 More detail]
- Hyperlysinemia [NCIt concept]
- Hyperlysinemia [PASCAL descriptor]
- Hyperlysinemia [HPO term]
- Hyperlysinemia [ORDO Disease]
- Hyperlysinemia (disorder) [SNOMED CT concept]
- hyperlysinaemia [Disease (Nov.)]
- hyperlysinemia [DO Concept]
- hyperlysinemia, nos [SNOMED Notion]
- hyperlysinemias [MeSH Descriptor]
- hyperlysinemias [MeSH concept]
DO Cross reference
- hyperlysinemia [DO Concept]
Genes related to phenotype
- Alpha-aminoadipic semialdehyde synthase [OMIM gene]
HPO term(s)
- Abnormality of the genitourinary system [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cognitive impairment [HPO term]
- Delayed speech and language development [HPO term]
- Ectopia lentis [HPO term]
- Hyperactivity [HPO term]
- Hyperlysinemia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Mild anemia [HPO term]
- Seizure [HPO term]
- Short attention span [HPO term]
ORDO concept(s)
- Hyperlysinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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