Porphyria, acute hepatic

Preferred Label : Porphyria, acute hepatic;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Delta-aminolevulinate dehydratase deficiency; Alad deficiency; Porphyria, alad; Porphobilinogen synthase deficiency; Doss porphyria;

Included titles and symbols : Lead poisoning, susceptibility to;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the delta-aminolevulinate dehydratase gene (ALAD, 125270.0001);

Laboratory abnormalities : Erythrocyte delta-aminolevulinate dehydratase (ALAD) deficiency; Elevated urinary delta-aminolevulinic acid and porphyrins;

Prefixed ID : #612740;

Details

Origin ID

612740;

UMLS CUI

C0268328;

Automatic exact mappings (from CISMeF team)
- ALAD porphyria [MedDRA LLT]
- Porphobilinogen synthase deficiency (disorder) [SNOMED CT concept]
- porphobilinogen synthase deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- ALAD porphyria [ICD-11 More detail]
- Acute Hepatic Porphyria [NCIt concept]
- Acute hepatic porphyria [ORDO Disease]
- Porphyria due to ALA dehydratase deficiency [ORDO Disease]
- porphyria, acute hepatic [MeSH concept]
- porphyria, acute hepatic [MeSH Supplementary Concept]
DO Cross reference
- acute porphyria [DO Concept]
Genes related to phenotype
- Delta-aminolevulinate dehydratase [OMIM gene]
HPO term(s)
- Abdominal colic [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elevated urinary delta-aminolevulinic acid [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Hemolytic anemia [HPO term]
- Hypotonia [HPO term]
- Paralysis [HPO term]
- Paresthesia [HPO term]
- Respiratory paralysis [HPO term]
- Vomiting [HPO term]
Matching ORDO disease(s)
- Acute hepatic porphyria [ORDO Disease]
ORDO concept(s)
- Porphyria due to ALA dehydratase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALAD porphyria [ICD-11 More detail]
- ALAD porphyria [MedDRA LLT]
- Acute Hepatic Porphyria [NCIt concept]
- Acute hepatic porphyria [ORDO Disease]
- Acute hepatic porphyria [MedDRA LLT]
- Porphobilinogen synthase deficiency (disorder) [SNOMED CT concept]
- Porphyria due to ALA dehydratase deficiency [ORDO Disease]
- porphobilinogen synthase deficiency [SNOMED Notion]
- porphyria, acute hepatic [MeSH Supplementary Concept]
- porphyria, acute hepatic [MeSH concept]

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