Details of Disease

General Information of Disease (ID: DIS7EMCO)

• Disease Name: Male infertility due to globozoospermia
• Synonyms: globozoospermia; round-headed sperm syndrome; Male infertility due to round-headed spermatozoa; male infertility due to globozoospermia; male infertility due to round-headed spermatozoa
• Definition: Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent.
• Disease Hierarchy:
  DISY3YZZ: Male infertility
  DISPY5W6: Male infertility with teratozoospermia due to single gene mutation
  DIS7EMCO: Male infertility due to globozoospermia
• Disease Identifiers:
  MONDO ID: MONDO_0015746
  UMLS CUI: C5679591
  MedGen ID: 1826006
  Orphanet ID: 171709

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DPY19L2	OTXG3OGK	Supportive	Autosomal recessive	[1]
PICK1	OT8QE6EU	Supportive	Autosomal recessive	[2]
SPATA16	OT9GJBI3	Supportive	Autosomal recessive	[3]

References

• [1] DPY19L2 deletion as a major cause of globozoospermia. Am J Hum Genet. 2011 Mar 11;88(3):344-50. doi: 10.1016/j.ajhg.2011.01.018.
• [2] A newly discovered mutation in PICK1 in a human with globozoospermia. Asian J Androl. 2010 Jul;12(4):556-60. doi: 10.1038/aja.2010.47. Epub 2010 Jun 21.
• [3] Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet. 2007 Oct;81(4):813-20. doi: 10.1086/521314. Epub 2007 Aug 21.