AUTSX6
MCID: EPS019
MIFTS: 17

Epsilon-Trimethyllysine Hydroxylase Deficiency (AUTSX6) malady

Categories: Genetic diseases

Aliases & Classifications for Epsilon-Trimethyllysine Hydroxylase Deficiency

Aliases & Descriptions for Epsilon-Trimethyllysine Hydroxylase Deficiency:

Name: Epsilon-Trimethyllysine Hydroxylase Deficiency 54 24 66 13 69
Autism, X-Linked 6 66 29
Autism Susceptibility, X-Linked 6 24
Tmlhed 66
Autsx6 66

Classifications:



External Ids:

OMIM 54 300872

Summaries for Epsilon-Trimethyllysine Hydroxylase Deficiency

OMIM : 54 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, intellectual disability and autism. An important gene associated with Epsilon-Trimethyllysine Hydroxylase Deficiency is TMLHE (Trimethyllysine Hydroxylase, Epsilon).

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Epsilon-Trimethyllysine Hydroxylase Deficiency

Symptoms & Phenotypes for Epsilon-Trimethyllysine Hydroxylase Deficiency

Clinical features from OMIM:

300872

Human phenotypes related to Epsilon-Trimethyllysine Hydroxylase Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 intellectual disability 32 HP:0001249
3 autism 32 HP:0000717

Drugs & Therapeutics for Epsilon-Trimethyllysine Hydroxylase Deficiency

Search Clinical Trials , NIH Clinical Center for Epsilon-Trimethyllysine Hydroxylase Deficiency

Genetic Tests for Epsilon-Trimethyllysine Hydroxylase Deficiency

Genetic tests related to Epsilon-Trimethyllysine Hydroxylase Deficiency:

id Genetic test Affiliating Genes
1 Autism, Susceptibility to, X-Linked 6 29
2 Epsilon-Trimethyllysine Hydroxylase Deficiency 24 TMLHE

Anatomical Context for Epsilon-Trimethyllysine Hydroxylase Deficiency

Publications for Epsilon-Trimethyllysine Hydroxylase Deficiency

Variations for Epsilon-Trimethyllysine Hydroxylase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Epsilon-Trimethyllysine Hydroxylase Deficiency:

66
id Symbol AA change Variation ID SNP ID
1 TMLHE p.Asp244His VAR_076251

ClinVar genetic disease variations for Epsilon-Trimethyllysine Hydroxylase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TMLHE NG_021318.1: g.(5171_72686)_(72866_93329)del deletion risk factor GRCh38 Chromosome X, 155524633: 155612791
2 TMLHE NM_018196.3(TMLHE): c.229C> T (p.Arg77Ter) single nucleotide variant risk factor rs781889971 GRCh38 Chromosome X, 155524585: 155524585
3 TMLHE NM_018196.3(TMLHE): c.730G> C (p.Asp244His) single nucleotide variant risk factor rs869320708 GRCh37 Chromosome X, 154741362: 154741362
4 TMLHE NM_018196.3(TMLHE): c.1107G> T (p.Glu369Asp) single nucleotide variant risk factor rs782001959 GRCh37 Chromosome X, 154722045: 154722045
5 TMLHE NM_018196.3(TMLHE): c.961_962delAT (p.Ile321Leufs) deletion risk factor rs782624357 GRCh37 Chromosome X, 154736592: 154736593

Expression for Epsilon-Trimethyllysine Hydroxylase Deficiency

Search GEO for disease gene expression data for Epsilon-Trimethyllysine Hydroxylase Deficiency.

Pathways for Epsilon-Trimethyllysine Hydroxylase Deficiency

GO Terms for Epsilon-Trimethyllysine Hydroxylase Deficiency

Sources for Epsilon-Trimethyllysine Hydroxylase Deficiency

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