MCID: EPS019
MIFTS: 16

Epsilon-Trimethyllysine Hydroxylase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Epsilon-Trimethyllysine Hydroxylase Deficiency

About this section

Aliases & Descriptions for Epsilon-Trimethyllysine Hydroxylase Deficiency:

Name: Epsilon-Trimethyllysine Hydroxylase Deficiency 51 24 69 12 67
Autism, X-Linked 6 69 26
 
Tmlhed 69
Autsx6 69

Classifications:



External Ids:

OMIM51 300872

Summaries for Epsilon-Trimethyllysine Hydroxylase Deficiency

About this section
OMIM:51 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:69 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

About this section

Symptoms for Epsilon-Trimethyllysine Hydroxylase Deficiency

About this section


Clinical features from OMIM:

300872

Human phenotypes related to Epsilon-Trimethyllysine Hydroxylase Deficiency:

 63
id Description HPO Frequency HPO Source Accession
1 seizures63 rare (5%) HP:0001250
2 autism63 HP:0000717
3 intellectual disability63 HP:0001249

Drugs & Therapeutics for Epsilon-Trimethyllysine Hydroxylase Deficiency

About this section

Interventional clinical trials:

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

Genetic Tests for Epsilon-Trimethyllysine Hydroxylase Deficiency

About this section

Genetic tests related to Epsilon-Trimethyllysine Hydroxylase Deficiency:

id Genetic test Affiliating Genes
1 Autism, Susceptibility to, X-Linked 626
2 Epsilon-Trimethyllysine Hydroxylase Deficiency24 TMLHE

Anatomical Context for Epsilon-Trimethyllysine Hydroxylase Deficiency

About this section

Animal Models for Epsilon-Trimethyllysine Hydroxylase Deficiency or affiliated genes

About this section

Publications for Epsilon-Trimethyllysine Hydroxylase Deficiency

About this section

Variations for Epsilon-Trimethyllysine Hydroxylase Deficiency

About this section

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

69
id Symbol AA change Variation ID SNP ID
1TMLHEp.Asp244HisVAR_076251

Clinvar genetic disease variations for Epsilon-Trimethyllysine Hydroxylase Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TMLHENM_018196.3(TMLHE): c.229C> T (p.Arg77Ter)SNVPathogenic, risk factorrs781889971GRCh38Chr X, 155524585: 155524585
2TMLHENM_018196.3(TMLHE): c.730G> C (p.Asp244His)SNVrisk factorrs869320708GRCh37Chr X, 154741362: 154741362
3TMLHENM_018196.3(TMLHE): c.1107G> T (p.Glu369Asp)SNVrisk factorrs782001959GRCh37Chr X, 154722045: 154722045
4TMLHENM_018196.3(TMLHE): c.961_962delAT (p.Ile321Leufs)deletionrisk factorrs869320768GRCh37Chr X, 154736592: 154736593
5TMLHENG_021318.1: g.(5171_72686)_(72866_93329)deldeletionrisk factorGRCh38Chr X, 155524633: 155612791

Expression for genes affiliated with Epsilon-Trimethyllysine Hydroxylase Deficiency

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

Pathways for genes affiliated with Epsilon-Trimethyllysine Hydroxylase Deficiency

About this section

GO Terms for genes affiliated with Epsilon-Trimethyllysine Hydroxylase Deficiency

About this section

Sources for Epsilon-Trimethyllysine Hydroxylase Deficiency

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet