Epsilon-Trimethyllysine Hydroxylase Deficiency malady
Category: Genetic diseases (common)
Aliases & Descriptions for Epsilon-Trimethyllysine Hydroxylase Deficiency:
OMIM:50 Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is... (300872) more...
MalaCards based summary: Epsilon-Trimethyllysine Hydroxylase Deficiency, is also known as autism, x-linked 6, and has symptoms including seizures, autism and intellectual disability. An important gene associated with Epsilon-Trimethyllysine Hydroxylase Deficiency is TMLHE (Trimethyllysine Hydroxylase, Epsilon).
UniProtKB/Swiss-Prot:68 Autism, X-linked 6: A form of autism, a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. AUTSX6 patients may respond favorably to carnitine supplementation.
UniProtKB/Swiss-Prot genetic disease variations for Epsilon-Trimethyllysine Hydroxylase Deficiency:68
Clinvar genetic disease variations for Epsilon-Trimethyllysine Hydroxylase Deficiency:5
Search GEO for disease gene expression data for Epsilon-Trimethyllysine Hydroxylase Deficiency.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet