Details of Disease

General Information of Disease (ID: DIS41350)

• Disease Name: Intellectual disability, autosomal recessive 51
• Synonyms: MRT51; HNMT autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive type 51; mental retardation, autosomal recessive 51; intellectual developmental disorder, autosomal recessive 51; mental retardation, autosomal recessive type 51; autosomal recessive non-syndromic intellectual disability caused by mutation in HNMT; intellectual disability, autosomal recessive 51
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DIS41350: Intellectual disability, autosomal recessive 51
• Disease Identifiers:
  MONDO ID: MONDO_0014759
  UMLS CUI: C4225220
  OMIM ID: 616739
  MedGen ID: 903243

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HNMT	TT2B6EV	Limited	Biomarker	[1]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HNMT	DE3PZ0I	Strong	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HNMT	OT9F303M	Strong	Autosomal recessive	[2]

References

• [1] Histamine N-Methyltransferase in the Brain.Int J Mol Sci. 2019 Feb 10;20(3):737. doi: 10.3390/ijms20030737.
• [2] Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. Hum Mol Genet. 2015 Oct 15;24(20):5697-710. doi: 10.1093/hmg/ddv286. Epub 2015 Jul 23.