Histidinemia - CISMeF

Preferred Label : Histidinemia;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Histidine ammonia-lyase deficiency; Hal deficiency; His deficiency; Histidase deficiency;

Description : Histidinemia is an autosomal recessive metabolic disorder characterized by increased levels of histidine in blood, urine, and cerebrospinal fluid, and decreased levels of the metabolite urocanic acid in blood, urine, and skin cells. Although histidinemia was originally associated with mental retardation and speech defects, it is generally considered to be a benign disorder (Levy et al., 2001). However, it is possible that histidinemia may be a risk factor for developmental disorders in certain individuals under specific circumstances, such as perinatal events (Ishikawa, 1987).;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the histidine ammonia lyase gene (HAL, 609457.0001);

Laboratory abnormalities : Increased histidine in blood, urine, and CSF; Decreased or absent histidase activity; Decreased urocanic acid in blood, urine, and skin cells;

Prefixed ID : #235800;

Details

Origin ID

235800;

UMLS CUI

C0220992;

Currated CISMeF NLP mapping
- Deficiency of histidine ammonia-lyase (disorder) [SNOMED CT concept]
- Histidinaemia [ICD-11 Sub-sub category]
- Histidinemia [PASCAL descriptor]
- Histidinemia [MeSH concept]
- Histidinemia [ORDO Disease]
- Histidinemia (disorder) [SNOMED CT concept]
- Hyperhistidinemia [HPO term]
- histidine ammonia-lyase deficiency [SNOMED Notion]
- histidinemia [DO Concept]
- histidinemia [Disease (Nov.)]
- histidinemia [MeSH Supplementary Concept]
DO Cross reference
- histidinemia [DO Concept]
Genes related to phenotype
- Histidine ammonia-lyase [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Histidinuria [HPO term]
- Hyperhistidinemia [HPO term]
- Intellectual disability [HPO term]
- Neurological speech impairment [HPO term]
ORDO concept(s)
- Histidinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of histidine ammonia-lyase (disorder) [SNOMED CT concept]
- Histidinaemia [ICD-11 Sub-sub category]
- Histidinemia [ORDO Disease]
- Histidinemia [MeSH concept]
- Histidinemia [PASCAL descriptor]
- Histidinemia (disorder) [SNOMED CT concept]
- Hyperhistidinemia [HPO term]
- histidine ammonia-lyase deficiency [SNOMED Notion]
- histidinemia [MeSH Supplementary Concept]
- histidinemia [DO Concept]
- histidinemia [Disease (Nov.)]

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