Details of Disease | DrugMAP

General Information of Disease (ID: DIS13N99)

Disease Name	Intellectual disability, autosomal recessive 54
Synonyms	TNIK autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive 54; autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK; intellectual disability, autosomal recessive type 54; intellectual developmental disorder 54; MRT54; mental retardation, autosomal recessive type 54; mental retardation, autosomal recessive 54
Definition	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene.
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DIS13N99: Intellectual disability, autosomal recessive 54
Disease Identifiers	MONDO ID MONDO_0014876 UMLS CUI C4310755 OMIM ID 617028 MedGen ID 934722

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TNIK	TTPB1W3	Limited	Autosomal recessive	[1]
TNIK	TTPB1W3	moderate	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TNIK	OTDZBJ4K	Limited	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	A null mutation in TNIK defines a novel locus for intellectual disability. Hum Genet. 2016 Jul;135(7):773-8. doi: 10.1007/s00439-016-1671-9. Epub 2016 Apr 22.