histidinemia
Findings
No curated finding names histidinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
Definition from the Mondo Disease Ontology (MONDO:0009345), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HistidinuriaHPOHP:0002927
- Obligate (100% of cases)
- HyperhistidinemiaHPOHP:0010906
- 50 of 50 reported patients
- Obligate (100% of cases)
- Abnormal speech patternHPOHP:0002167
- Very rare (1% to 4% of cases)
- Atypical behaviorHPOHP:0000708
- Very rare (1% to 4% of cases)
- HyperactivityHPOHP:0000752
- Very rare (1% to 4% of cases)
- Moderate global developmental delayHPOHP:0011343
- Very rare (1% to 4% of cases)
- Specific learning disability
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HALHGNC:4806
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · ClinGen · Autosomal recessive · 2023
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- Narrower terms (1)
Other names
6 names
Resolves to: histidinemia
- Also called
- Hal deficiencyHIS deficiencyhistidase deficiencyhistidine ammonia-lyase deficiencyHistidinuriahyperhistidinemia