Details of Disease

General Information of Disease (ID: DISK0GXF)

• Disease Name: Intellectual disability, autosomal recessive 46
• Synonyms: mental retardation, autosomal recessive 46; MRT46; NDST1 autosomal recessive non-syndromic intellectual disability; mental retardation, autosomal recessive type 46; intellectual disability, autosomal recessive type 46; intellectual disability, autosomal recessive 46; autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DISK0GXF: Intellectual disability, autosomal recessive 46
• Disease Identifiers:
  MONDO ID: MONDO_0014499
  UMLS CUI: C4015283
  OMIM ID: 616116
  MedGen ID: 863720

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NDST1	OT9E10W2	Strong	Autosomal recessive	[1]

References

• [1] Mice deficient in heparan sulfate N-deacetylase/N-sulfotransferase 1. Prog Mol Biol Transl Sci. 2010;93:35-58. doi: 10.1016/S1877-1173(10)93003-2.