Details of Disease | DrugMAP

General Information of Disease (ID: DISDJM7Y)

Disease Name	Familial hypertryptophanemia
Synonyms	HYPTRP; hypertryptophanemia, familial; hypertryptophanemia; familial hypertryptophanemia
Definition	Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.
Disease Hierarchy	DISERPI1: Inborn disorder of tryptophan metabolism DISDJM7Y: Familial hypertryptophanemia
Disease Identifiers	MONDO ID MONDO_0010907 MESH ID C563467 UMLS CUI C2931837 OMIM ID 600627 MedGen ID 419177 Orphanet ID 2224 SNOMED CT ID 721838005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TDO2	TTXNCBV	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
TDO2	DEGH1QU	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
TDO2	OTV5HKJ4	Supportive	Autosomal recessive	[1]
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References

1	Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency. Mol Genet Metab. 2017 Apr;120(4):317-324. doi: 10.1016/j.ymgme.2017.02.009. Epub 2017 Mar 1.