Details of Disease

General Information of Disease (ID: DIS7WS7S)

• Disease Name: Autosomal dominant primary microcephaly
• Synonyms: microcephaly with autosomal dominant inheritance; microcephaly, autosomal dominant; microcephaly autosomal dominant; autosomal dominant microcephaly; autosomal dominant primary microcephaly; microcephaly (disease), autosomal dominant
• Definition: Autosomal dominant form of microcephaly (disease).
• Disease Hierarchy:
  DISUXHZ6: Isolated congenital microcephaly
  DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
  DIS2BIP8: Congenital nervous system disorder
  DISYOKTG: Mendelian neurodevelopmental disorder
  DIS3HIWD: Autosomal dominant disease
  DIS7WS7S: Autosomal dominant primary microcephaly
• Disease Identifiers:
  MONDO ID: MONDO_0007988
  MESH ID: C537323
  UMLS CUI: C0220693
  OMIM ID: 156580
  MedGen ID: 66319
  Orphanet ID: 2514

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
KIF11	TTBGTCW	Strong	Genetic Variation	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DPP6	OTWW3H0K	Supportive	Autosomal dominant	[2]
LMNB1	OT100T3P	Supportive	Autosomal dominant	[3]

References

• [1] Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26.
• [2] Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation. Eur J Med Genet. 2013 Sep;56(9):484-9. doi: 10.1016/j.ejmg.2013.06.008. Epub 2013 Jul 5.
• [3] De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. Am J Hum Genet. 2020 Oct 1;107(4):753-762. doi: 10.1016/j.ajhg.2020.08.015. Epub 2020 Sep 9.