Hypertryptophanemia

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OMIM 57 600627 Orphanet 59 ORPHA2224 MESH via Orphanet 45 C538393 UMLS via Orphanet 74 C2931837 ICD10 via Orphanet 34 E70.8

MedGen 42 C2931837 C1833562 MeSH 44 D000592 SNOMED-CT via HPO 69 258211005 194021007 22006008 60700002 128602000 22066006 246635007 397540003 7973008 57190000 18963009 21061000119107 35489007 78667006 248004009 61372001 224958001 203534009 53226007 61152003 18789002 73744004 202281000 more UMLS 73 C2931837

NIH Rare Diseases : ⁵³ Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body's ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i.e. periodic mood swings, exaggerated emotional responses and abnormal sexual behavior). The underlying genetic cause of hypertryptophanemia is currently unknown; however, it appears to be inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Hypertryptophanemia, is also known as hypertryptophanemia, familial. An important gene associated with Hypertryptophanemia is TDO2 (Tryptophan 2,3-Dioxygenase). Related phenotypes are hypertelorism and sensorineural hearing impairment

OMIM : ⁵⁷ Congenital hypertryptophanemia, which is accompanied by hyperserotonemia, does not appear to have significant clinical consequences (Ferreira et al., 2017). (600627)

UniProtKB/Swiss-Prot : ⁷⁵ Hypertryptophanemia: An autosomal recessive condition characterized by persistent hypertryptophanemia and hyperserotoninemia.

Wikipedia : ⁷⁶ Hypertryptophanemia, also called familial hypertryptophanemia, is a rare autosomal recessivemetabolic... more...

Clinical features from OMIM:

600627

Search Clinical Trials , NIH Clinical Center for Hypertryptophanemia

Search GEO for disease gene expression data for Hypertryptophanemia.