AUTSX6
MCID: ATS358
MIFTS: 18

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 58
Epsilon-Trimethyllysine Hydroxylase Deficiency 58 76 13 41 74
Autism, Susceptibility to, X-Linked 6 58 30 6
Autsx6 58 76
Tmlhed 58 76
Epsilon-Trimethyllysine Hydroxylase Deficiency; Tmlhed 58
Autism, X-Linked 6 76

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
patients may show favorable response to carnitine supplementation


HPO:

33
autism x-linked 6:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Autism X-Linked 6

OMIM : 58 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)

MalaCards based summary : Autism X-Linked 6, is also known as epsilon-trimethyllysine hydroxylase deficiency. An important gene associated with Autism X-Linked 6 is TMLHE (Trimethyllysine Hydroxylase, Epsilon). Related phenotypes are seizures and delayed speech and language development

UniProtKB/Swiss-Prot : 76 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

Symptoms & Phenotypes for Autism X-Linked 6

Human phenotypes related to Autism X-Linked 6:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 delayed speech and language development 33 occasional (7.5%) HP:0000750
3 intellectual disability 33 HP:0001249
4 developmental regression 33 HP:0002376
5 autism 33 HP:0000717

Symptoms via clinical synopsis from OMIM:

58
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

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 30 TMLHE

Anatomical Context for Autism X-Linked 6

Publications for Autism X-Linked 6

Variations for Autism X-Linked 6

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

76
# Symbol AA change Variation ID SNP ID
1 TMLHE p.Asp244His VAR_076251 rs869320708

ClinVar genetic disease variations for Autism X-Linked 6:

6
# 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 Uncertain significance rs781889971 GRCh38 Chromosome X, 155524585: 155524585
3 TMLHE NM_018196.3(TMLHE): c.229C> T (p.Arg77Ter) single nucleotide variant Uncertain significance rs781889971 GRCh37 Chromosome X, 154754246: 154754246
4 TMLHE NM_018196.3(TMLHE): c.730G> C (p.Asp244His) single nucleotide variant risk factor rs869320708 GRCh37 Chromosome X, 154741362: 154741362
5 TMLHE NM_018196.3(TMLHE): c.730G> C (p.Asp244His) single nucleotide variant risk factor rs869320708 GRCh38 Chromosome X, 155511701: 155511701
6 TMLHE NM_018196.3(TMLHE): c.1107G> T (p.Glu369Asp) single nucleotide variant risk factor rs782001959 GRCh37 Chromosome X, 154722045: 154722045
7 TMLHE NM_018196.3(TMLHE): c.1107G> T (p.Glu369Asp) single nucleotide variant risk factor rs782001959 GRCh38 Chromosome X, 155492384: 155492384
8 TMLHE NM_018196.3(TMLHE): c.961_962delAT (p.Ile321Leufs) deletion Pathogenic rs782624357 GRCh37 Chromosome X, 154736592: 154736593
9 TMLHE NM_018196.3(TMLHE): c.961_962delAT (p.Ile321Leufs) deletion Pathogenic rs782624357 GRCh38 Chromosome X, 155506931: 155506932

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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