AUTSX6
MCID: ATS358
MIFTS: 24

Autism X-Linked 6 (AUTSX6)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autism X-Linked 6

MalaCards integrated aliases for Autism X-Linked 6:

Name: Autism X-Linked 6 57
Epsilon-Trimethyllysine Hydroxylase Deficiency 57 72 13 39 70
Autism, Susceptibility to, X-Linked 6 57 29 6
Autsx6 57 72
Tmlhed 57 72
Epsilon-Trimethyllysine Hydroxylase Deficiency; Tmlhed 57
Autism, X-Linked 6 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

Miscellaneous:
patients may show favorable response to carnitine supplementation


HPO:

31
autism x-linked 6:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Autism X-Linked 6

OMIM® : 57 X-linked autism-6 is a neurodevelopmental disorder that affects only males. Some patients may respond favorably to carnitine supplementation (summary by Ziats et al., 2015). Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of heterogeneity of autism, see 209850. (300872) (Updated 05-Apr-2021)

MalaCards based summary : Autism X-Linked 6, also known as epsilon-trimethyllysine hydroxylase deficiency, is related to autism. An important gene associated with Autism X-Linked 6 is TMLHE (Trimethyllysine Hydroxylase, Epsilon). Affiliated tissues include brain, and related phenotypes are delayed speech and language development and seizure

UniProtKB/Swiss-Prot : 72 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 Autism X-Linked 6

Diseases in the Autism X-Linked 2 family:

Autism X-Linked 1 Autism X-Linked 3
Autism X-Linked 4 Autism X-Linked 5
Autism X-Linked 6

Diseases related to Autism X-Linked 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autism 9.5 TMLHE-AS1 TMLHE

Symptoms & Phenotypes for Autism X-Linked 6

Human phenotypes related to Autism X-Linked 6:

31
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 occasional (7.5%) HP:0000750
2 seizure 31 occasional (7.5%) HP:0001250
3 intellectual disability 31 HP:0001249
4 developmental regression 31 HP:0002376
5 autism 31 HP:0000717

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
speech delay (in some patients)
developmental regression, episodic (in 1 patient)

Laboratory Abnormalities:
increased plasma trimethyllysine (tml) (in most patients)
plasma carnitine may be decreased or normal
increased tml-to-gamma butyrobetaine (gbb) ratio in plasma and urine

Neurologic Behavioral Psychiatric Manifestations:
autism

Clinical features from OMIM®:

300872 (Updated 05-Apr-2021)

Drugs & Therapeutics for Autism X-Linked 6

Search Clinical Trials , NIH Clinical Center for Autism X-Linked 6

Genetic Tests for Autism X-Linked 6

Genetic tests related to Autism X-Linked 6:

# Genetic test Affiliating Genes
1 Autism, Susceptibility to, X-Linked 6 29 TMLHE

Anatomical Context for Autism X-Linked 6

MalaCards organs/tissues related to Autism X-Linked 6:

40
Brain

Publications for Autism X-Linked 6

Articles related to Autism X-Linked 6:

# Title Authors PMID Year
1
Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. 6 57
25943046 2015
2
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. 57 6
23092983 2012
3
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. 57 6
22566635 2012
4
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. 6 57
21865298 2011
5
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. 57
18698615 2008
6
Evidence for multiple loci from a genome scan of autism kindreds. 57
16880825 2006
7
A genomic screen of autism: evidence for a multilocus etiology. 57
10417292 1999
8
Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. 57
8655659 1996

Variations for Autism X-Linked 6

ClinVar genetic disease variations for Autism X-Linked 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMLHE NM_018196.4(TMLHE):c.959_960AT[1] (p.Ile321fs) Microsatellite Pathogenic 225231 rs782624357 GRCh37: X:154736592-154736593
GRCh38: X:155506931-155506932
2 TMLHE-AS1 , TMLHE NM_018196.4(TMLHE):c.1107G>T (p.Glu369Asp) SNV risk factor 225230 rs782001959 GRCh37: X:154722045-154722045
GRCh38: X:155492384-155492384
3 TMLHE NM_018196.4(TMLHE):c.730G>C (p.Asp244His) SNV risk factor 225229 rs869320708 GRCh37: X:154741362-154741362
GRCh38: X:155511701-155511701
4 TMLHE and overlap with 1 gene(s) NC_000023.11:g.(155524633_155545096)_(155545276_155612791)del Deletion risk factor 31938 GRCh37:
GRCh38: X:155524633-155612791
5 TMLHE NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter) SNV risk factor 225228 rs781889971 GRCh37: X:154754246-154754246
GRCh38: X:155524585-155524585
6 TMLHE NM_018196.4(TMLHE):c.6G>T (p.Trp2Cys) SNV Uncertain significance 828134 rs782121512 GRCh37: X:154774932-154774932
GRCh38: X:155545271-155545271
7 TMLHE NM_018196.4(TMLHE):c.278G>A (p.Arg93His) SNV Uncertain significance 982862 GRCh37: X:154754197-154754197
GRCh38: X:155524536-155524536
8 TMLHE NM_018196.4(TMLHE):c.794C>T (p.Thr265Ile) SNV not provided 450888 rs1557332788 GRCh37: X:154736760-154736760
GRCh38: X:155507099-155507099

UniProtKB/Swiss-Prot genetic disease variations for Autism X-Linked 6:

72
# Symbol AA change Variation ID SNP ID
1 TMLHE p.Asp244His VAR_076251 rs869320708

Expression for Autism X-Linked 6

Search GEO for disease gene expression data for Autism X-Linked 6.

Pathways for Autism X-Linked 6

GO Terms for Autism X-Linked 6

Sources for Autism X-Linked 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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