Hypertryptophanemia (HYPTRP)

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OMIM 58 600627 MeSH 45 D000592 MESH via Orphanet 46 C538393 ICD10 via Orphanet 35 E70.8 UMLS via Orphanet 75 C2931837

Orphanet 60 ORPHA2224 MedGen 43 C1833562 C2931837 SNOMED-CT via HPO 70 128602000 18789002 18963009 194021007 202281000 203534009 21061000119107 22006008 22066006 224958001 246635007 248004009 258211005 35489007 397540003 53226007 57190000 60700002 61152003 61372001 73744004 78667006 7973008 more UMLS 74 C2931837

NIH Rare Diseases : ⁵⁴ 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 emotional lability

OMIM : ⁵⁸ Congenital hypertryptophanemia, which is accompanied by hyperserotonemia, does not appear to have significant clinical consequences (Ferreira et al., 2017). (600627)

UniProtKB/Swiss-Prot : ⁷⁶ Hypertryptophanemia: An autosomal recessive condition characterized by persistent hypertryptophanemia and hyperserotoninemia.

Wikipedia : ⁷⁷ Hypertryptophanemia, is a rare autosomal recessivemetabolic disorder that results in a massive buildup... more...

Clinical features from OMIM:

600627

Search Clinical Trials , NIH Clinical Center for Hypertryptophanemia

Search GEO for disease gene expression data for Hypertryptophanemia.