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HYPTRP
MCID: HYP187
MIFTS: 41
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Hypertryptophanemia (HYPTRP)
Categories:
Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Hypertryptophanemia:Characteristics:Orphanet epidemiological data:58
hypertryptophanemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 1 patient (last curated september 2017) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Nephrological diseases
ICD10:
33
Orphanet: 58
Inborn errors of metabolism External Ids:
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NIH Rare Diseases :
52
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, also known as hypertryptophanemia, familial, is related to joint laxity, short stature, and myopia and myopia. An important gene associated with Hypertryptophanemia is TDO2 (Tryptophan 2,3-Dioxygenase), and among its related pathways/superpathways are Neuroscience and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Affiliated tissues include cortex and brain, and related phenotypes are global developmental delay and hypertelorism Disease Ontology : 12 An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has material basis in homozygous or compound heterozygous mutation in TDO2 on chromosome 4q32.1. OMIM : 56 Congenital hypertryptophanemia, which is accompanied by hyperserotonemia, does not appear to have significant clinical consequences (Ferreira et al., 2017). (600627) UniProtKB/Swiss-Prot : 73 Hypertryptophanemia: An autosomal recessive condition characterized by persistent hypertryptophanemia and hyperserotoninemia. Wikipedia : 74 Hypertryptophanemia, is a rare autosomal recessive metabolic disorder that results in a massive buildup... more... |
Human phenotypes related to Hypertryptophanemia:31 (show all 19)
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Cochrane evidence based reviews: hypertryptophanemia, familial |
MalaCards organs/tissues related to Hypertryptophanemia:40
Cortex,
Brain
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Articles related to Hypertryptophanemia:
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Genes related to Hypertryptophanemia (1 elite genes):(show all 17) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Hypertryptophanemia:6
UniProtKB/Swiss-Prot genetic disease variations for Hypertryptophanemia:73
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Search
GEO
for disease gene expression data for Hypertryptophanemia.
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Pathways related to Hypertryptophanemia according to GeneCards Suite gene sharing:
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Cellular components related to Hypertryptophanemia according to GeneCards Suite gene sharing:
Biological processes related to Hypertryptophanemia according to GeneCards Suite gene sharing:
Molecular functions related to Hypertryptophanemia according to GeneCards Suite gene sharing:
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