Male infertility with teratozoospermia

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Male infertility with teratozoospermia due to single gene mutation

ORPHA:399808Disease

What it is

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.

Key facts

Age of onset
Adolescent, Adult
Classified as
Disease

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes reported in subtypes

AKAP3ARMC12AURKCCATSPERTCFAP47CFAP61DNAH10DNHD1DPY19L2GGNGOPCIFT74PICK1PMFBP1PPP2R3CSEPTIN4SPATA16SUN5ZPBP

Orphanet records these genes on 3 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

ICD-10 codes

N46filed under a broader ICD-10 category — shared with 6 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0018394OMIM 102530OMIM 243060OMIM 301059OMIM 613958OMIM 615413OMIM 618420OMIM 619044OMIM 619094OMIM 619095OMIM 619102OMIM 619144OMIM 619145OMIM 619177OMIM 619258OMIM 619515OMIM 619585OMIM 619712OMIM 620353OMIM 620409OMIM 620744UMLS C4706677

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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