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histidinemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

histidinemia

MONDO:0009345

Also known as:HIS deficiencyHal deficiencyHistidinuria

Overview

Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.

GeneticsAutosomal recessive, Autosomal dominant · HAL (chr 12)

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hyperhistidinemia. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	1	Elevated urinary N-tau-ribosylhistidine level
Brain and nerves

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HAL encodes histidine ammonia-lyase (657 aa). Highest expression in Liver (86.9 TPM) and Skin Sun Exposed Lower leg (39.0 TPM).

Histidinemia has limited evidence linking it to mutations in the HAL gene on chromosome 12.

The HAL protein participates in Dehalogenation of the poly-halogenated hydrocarbon Halothane to form the acylhalide Trifluoroacetlychloride and hydrogen bromide and histidine = urocanate + NH4+ pathways.

HAL is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for HAL is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for histidinemia.

4 publications have been identified in PubMed for histidinemia. Research spans Basic Science / Preclinical (75%) and Review / Meta-Analysis (25%).

Recent Publications

Park K (2026). [PMID: 41482036](https://pubmed.ncbi.nlm.nih.gov/41482036/). *J Dairy Sci*. [Basic Science / Preclinical]
Dörner C (2025). [PMID: 41002986](https://pubmed.ncbi.nlm.nih.gov/41002986/). *Metabolites*. [Review / Meta-Analysis]
Fiadjoe HK (2025). [PMID: 41313389](https://pubmed.ncbi.nlm.nih.gov/41313389/). *Discov Oncol*. [Basic Science / Preclinical]
Prajapati KP (2024). [PMID: 38564419](https://pubmed.ncbi.nlm.nih.gov/38564419/). *ACS Appl Mater Interfaces*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 5:29 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:235800

Orphanet

European rare disease database

Orphanet:2157

GARD

Genetic and Rare Diseases Info Center

GARD:6661

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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histidinemia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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