Details of Disease

General Information of Disease (ID: DISPY5W6)

• Disease Name: Male infertility with teratozoospermia due to single gene mutation
• Definition: Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.
• Disease Hierarchy:
  DISY3YZZ: Male infertility
  DISPY5W6: Male infertility with teratozoospermia due to single gene mutation
• Disease Identifiers:
  MONDO ID: MONDO_0018394
  UMLS CUI: C4706677
  MedGen ID: 1643966
  Orphanet ID: 399808
  SNOMED CT ID: 764096006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NANOS1	OT3UNZZY	Disputed	GermlineCausalMutation	[1]
ARMC2	OTMCC01T	Strong	CausalMutation	[2]

References

• [1] Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia. J Med Genet. 2013 Mar;50(3):187-93. doi: 10.1136/jmedgenet-2012-101230. Epub 2013 Jan 12.
• [2] Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. Am J Hum Genet. 2019 Feb 7;104(2):331-340. doi: 10.1016/j.ajhg.2018.12.013. Epub 2019 Jan 24.