Details of Disease | DrugMAP

General Information of Disease (ID: DIS7LGS9)

Disease Name	Histidinemia
Synonyms	HIS deficiency; histidine ammonia-lyase deficiency; hyperhistidinemia; Hal deficiency; histidinuria; histidase deficiency; histidinemia; Histidinuria
Definition	Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
Disease Hierarchy	DISV7SE5: Inborn disorder of histidine metabolism DIS7LGS9: Histidinemia
Disease Identifiers	MONDO ID MONDO_0009345 MESH ID C538320 UMLS CUI C0220992 OMIM ID 235800 MedGen ID 113135 HPO ID HP:0010906 Orphanet ID 2157 SNOMED CT ID 124628005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HAL	TTXQOZW	Limited	GermlineCausalMutation	[1]
HAL	TTXQOZW	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HAL	OT1HXFCV	Supportive	Autosomal recessive	[1]
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References

1	Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene. Hum Genet. 2005 Apr;116(5):340-6. doi: 10.1007/s00439-004-1232-5. Epub 2005 Jan 27.