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.