MCID: ATS358
MIFTS: 19

Autism X-Linked 6

Categories: Genetic diseases, Neuronal diseases, Mental 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 75 13 40 73
Autism, Susceptibility to, X-Linked 6 57 29 6
Autsx6 57 75
Tmlhed 57 75
Epsilon-Trimethyllysine Hydroxylase Deficiency; Tmlhed 57
Autism, X-Linked 6 75

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
patients may show favorable response to carnitine supplementation


HPO:

32
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)

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 intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Autism X-Linked 6:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 occasional (7.5%) HP:0001250
3 developmental regression 32 HP:0002376
4 delayed speech and language development 32 occasional (7.5%) HP:0000750
5 autism 32 HP:0000717

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

Publications for Autism X-Linked 6

Variations for Autism X-Linked 6

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

75
# 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 risk factor rs782624357 GRCh37 Chromosome X, 154736592: 154736593
9 TMLHE NM_018196.3(TMLHE): c.961_962delAT (p.Ile321Leufs) deletion risk factor 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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