Orphanet: Male infertility with teratozoospermia due to single gene mutation

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Male infertility with teratozoospermia due to single gene mutation

Disease 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.

ORPHA:399808

Classification level: Disorder

Synonym(s): -
Prevalence: -
Inheritance: -
Age of onset: Adolescent, Adult
ICD-10: N46
OMIM: 102530 243060 301059 613958 615413 619044 619094 619095 619102 619144 619145 619177 619258
UMLS: C4706677
MeSH: -
GARD: -
MedDRA: -

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Male infertility with teratozoospermia due to single gene mutation

ORPHA:399808

A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

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