AUTSX6
MCID: EPS019
MIFTS: 17

Epsilon-Trimethyllysine Hydroxylase Deficiency (AUTSX6) malady

Category: Genetic diseases (common)

Aliases & Classifications for Epsilon-Trimethyllysine Hydroxylase Deficiency

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Aliases & Descriptions for Epsilon-Trimethyllysine Hydroxylase Deficiency:

Name: Epsilon-Trimethyllysine Hydroxylase Deficiency 52 24 70 12 68
Autism, X-Linked 6 70 27
Autism Susceptibility, X-Linked 6 24
 
Tmlhed 70
Autsx6 70

Classifications:



External Ids:

OMIM52 300872

Summaries for Epsilon-Trimethyllysine Hydroxylase Deficiency

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OMIM:52 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 autism, intellectual disability and seizures. An important gene associated with Epsilon-Trimethyllysine Hydroxylase Deficiency is TMLHE (Trimethyllysine Hydroxylase, Epsilon).

UniProtKB/Swiss-Prot:70 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

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Symptoms & Phenotypes for Epsilon-Trimethyllysine Hydroxylase Deficiency

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Clinical features from OMIM:

300872

Human phenotypes related to Epsilon-Trimethyllysine Hydroxylase Deficiency:

 64
id Description HPO Frequency HPO Source Accession
1 autism64 HP:0000717
2 intellectual disability64 HP:0001249
3 seizures64 HP:0001250

Drugs & Therapeutics for Epsilon-Trimethyllysine Hydroxylase Deficiency

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Interventional clinical trials:

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

Genetic Tests for Epsilon-Trimethyllysine Hydroxylase Deficiency

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Genetic tests related to Epsilon-Trimethyllysine Hydroxylase Deficiency:

id Genetic test Affiliating Genes
1 Autism, Susceptibility to, X-Linked 627
2 Epsilon-Trimethyllysine Hydroxylase Deficiency24 TMLHE

Anatomical Context for Epsilon-Trimethyllysine Hydroxylase Deficiency

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Publications for Epsilon-Trimethyllysine Hydroxylase Deficiency

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Variations for Epsilon-Trimethyllysine Hydroxylase Deficiency

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

70
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)SNVrisk 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 factorrs782624357GRCh37Chr 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

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

Pathways for genes affiliated with Epsilon-Trimethyllysine Hydroxylase Deficiency

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GO Terms for genes affiliated with Epsilon-Trimethyllysine Hydroxylase Deficiency

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Sources for Epsilon-Trimethyllysine Hydroxylase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet