Details of Disease | DrugMAP

General Information of Disease (ID: DIS2U2A0)

Disease Name	Spermatogenic failure 5
Synonyms	macrozoospermia; infertility associated with multitailed spermatozoa and excessive DNA; SPGF5; infertility associated with multi-tailed spermatozoa and excessive DNA; male infertility due to macrozoospermia; male infertility due to large-headed multiflagellar polyploid spermatozoa; male infertility with large-headed, multiflagellar, polyploid spermatozoa; macrocephalic sperm head syndrome; spermatogenic failure 5; spermatogenic failure type 5
Definition	Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).
Disease Hierarchy	DISPY5W6: Male infertility with teratozoospermia due to single gene mutation DIS3D1AI: Spermatogenic failure DIS2U2A0: Spermatogenic failure 5
Disease Identifiers	MONDO ID MONDO_0009461 MESH ID C562903 UMLS CUI C0403812 OMIM ID 243060 MedGen ID 98020 Orphanet ID 137893 SNOMED CT ID 236806004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AURKC	TTLYXIT	Strong	Autosomal recessive	[1]
AURKC	TTLYXIT	Strong	GermlineCausalMutation	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DNAH8	OTGES2OU	Moderate	Autosomal recessive	[3]
AURKC	OTJMOW9V	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis.Mol Hum Reprod. 2011 Dec;17(12):762-8. doi: 10.1093/molehr/gar050. Epub 2011 Jul 6.
3	Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility. Am J Hum Genet. 2020 Aug 6;107(2):330-341. doi: 10.1016/j.ajhg.2020.06.004. Epub 2020 Jul 2.