raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:399786

Male infertility with spermatogenesis disorder due to single gene mutation

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enMale infertility with spermatogenesis disorder due to single gene mutation
frInfertilité masculine avec anomalie de la spermatogenèse due à une mutation ponctuelle
deMännliche Infertilität mit Störung der Spermatogenese durch Mutation eines einzelnen Gens
esInfertilidad masculina con un trastorno de la espermatogénesis por una única mutación genética
itSterilità maschile con difetto della spermatogenesi da mutazione di un singolo gene
nlMannelijke onvruchtbaarheid met stoornis van spermatogenese door mutatie van een enkel gen
ptInfertilidade masculina com alteração de espermatogénese por mutação num único gene
plNiepłodność męska z zaburzeniami spermatogenezy z powodu mutacji pojedyńczego genu
csMužská neplodnost s poruchami spermatogeneze v důsledku mutace v jednom genuMonogenní mužská neplodnost s poruchami spermatogeneze
ukЧоловіче безпліддя з порушенням сперматогенезу внаслідок мутації одного гена
zh男性不育伴单基因突变所致生精障碍
trTek gen mutasyonuna bağlı spermatogenez bozukluğu ile seyreden erkek infertilitesi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO18392Evalidated
UMLSC5681166Evalidated
GARD12513Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (2):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card