Details of Disease

General Information of Disease (ID: DIS6SM2M)

Disease Name Epsilon-trimethyllysine hydroxylase deficiency
Synonyms
autism, susceptibility to, X-linked 6; EPSILON-trimethyllysine HYDROXYLASE deficiency; TMLHED; susceptibility to X-linked autism 6; AUTSX6; autism, susceptibility to, X-linked 6, X-linked recessive; epsilon-trimethyllysine hydroxylase deficiency
Disease Hierarchy
DISRAMZ3: Autism, susceptiblity to
DIS6SM2M: Epsilon-trimethyllysine hydroxylase deficiency
Disease Identifiers
MONDO ID
MONDO_0010469
UMLS CUI
C3550875
OMIM ID
300872
MedGen ID
763789

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TMLHE OTH4ZLJP Limited Unknown [1]
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References

1 Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Hum Mol Genet. 2011 Nov 15;20(22):4360-70. doi: 10.1093/hmg/ddr363. Epub 2011 Aug 24.