raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:399808

Male infertility with teratozoospermia due to single gene mutation

Type
Disease
Group
Disorder
Age of onset
Adolescent, Adult
Status
active

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.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enMale infertility with teratozoospermia due to single gene mutation
frInfertilité masculine monogénique avec tératozoospermie
deMännliche Infertilität mit Teratozoospermie durch Mutation eines einzelnen Gens
esInfertilidad masculina con teratozoospermia por una única mutación genética
itSterilità maschile con teratozoospermia da mutazione di un singolo gene
nlMannelijke infertiliteit met teratozoöspermie door een enkele genmutatie
ptInfertilidade masculina com teratozoospermia por mutação num único gene
plNiepłodność męska z teratozoospermią z powodu mutacji pojedyńczego genu
csMužská neplodnost s teratozoospermií způsobená mutací v jednom genuMonogenní mužská neplodnost s teratozoospermií
ukЧоловіче безпліддя з тератозооспермією внаслідок мутації одного гена
zh男性不育伴单基因突变所致畸形性精子症
trTek gen mutasyonuna bağlı teratozoospermi ile seyreden erkek infertilitesi

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM102530BTNTvalidated
OMIM243060BTNTvalidated
OMIM301059BTNTvalidated
OMIM613958BTNTvalidated
OMIM615413BTNTvalidated
OMIM618420BTNTvalidated
OMIM619044BTNTvalidated
OMIM619094BTNTvalidated
OMIM619095BTNTvalidated
OMIM619102BTNTvalidated
OMIM619144BTNTvalidated
OMIM619145BTNTvalidated
OMIM619177BTNTvalidated
OMIM619258BTNTvalidated
OMIM619515NTBTvalidated
OMIM619585NTBTvalidated
OMIM619712NTBTvalidated
OMIM620353BTNTvalidated
OMIM620409BTNTvalidated
OMIM620744BTNTvalidated
ICD-10N46NTBTattributedvalidated
ICD-11GB04.YNTBTattributedvalidated
MONDO0018394Evalidated
UMLSC4706677Evalidated

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 (3):

Codes that Orphanet moved or referred to this one:

4

Genes

0 direct · 19 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

GeneSubtypeAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
GOPCORPHA:171709Male infertility due to globozoospermiaCandidate gene tested inNot yet assessedHGNC:17643ENSG000000479326068456q22.1golgi associated PDZ and coiled-coil motif containing22049801[PMID]
AKAP3ORPHA:137893Male infertility due to large-headed multiflagellar polyploid spermatozoaDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:373ENSG0000011125460468912p13.32A-kinase anchoring protein 335228300[PMID]
ARMC12ORPHA:137893Male infertility due to large-headed multiflagellar polyploid spermatozoaDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:21099ENSG000001573436203776p21.31armadillo repeat containing 1235534203[PMID]
AURKCORPHA:137893Male infertility due to large-headed multiflagellar polyploid spermatozoaDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:11391ENSG0000010514660349519q13.43aurora kinase C17435757[PMID]_21733974[PMID]
SEPTIN4ORPHA:171709Male infertility due to globozoospermiaDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:9165ENSG0000010838760369617q22septin 436135717[PMID]
CATSPERTORPHA:171709Male infertility due to globozoospermiaDisease-causing germline mutation(s) inAssessedHGNC:14438ENSG000001557546197762q33.1catsper channel auxiliary subunit tau31985809[PMID]
CFAP47ORPHA:137893Male infertility due to large-headed multiflagellar polyploid spermatozoaDisease-causing germline mutation(s) inAssessedHGNC:26708ENSG00000165164301057Xp21.1cilia and flagella associated protein 4733472045[PMID]
CFAP61ORPHA:137893Male infertility due to large-headed multiflagellar polyploid spermatozoaDisease-causing germline mutation(s) inAssessedHGNC:15872ENSG0000008910162038120p11.23cilia and flagella associated protein 6135387802[PMID]
DNAH10ORPHA:137893Male infertility due to large-headed multiflagellar polyploid spermatozoaDisease-causing germline mutation(s) inAssessedHGNC:2941ENSG0000019765360588412q24.31dynein axonemal heavy chain 1034237282[PMID]
DNHD1ORPHA:137893Male infertility due to large-headed multiflagellar polyploid spermatozoaDisease-causing germline mutation(s) inAssessedHGNC:26532ENSG0000017953261727711p15.4dynein heavy chain domain 134932939[PMID]
DPY19L2ORPHA:171709Male infertility due to globozoospermiaDisease-causing germline mutation(s) inAssessedHGNC:19414ENSG0000017799061389312q14.2dpy-19 like 221397063[PMID]_22571172[PMID]
GGNORPHA:171709Male infertility due to globozoospermiaDisease-causing germline mutation(s) inAssessedHGNC:18869ENSG0000017916860996619q13.2gametogenetin31985809[PMID]
IFT74ORPHA:137893Male infertility due to large-headed multiflagellar polyploid spermatozoaDisease-causing germline mutation(s) inAssessedHGNC:21424ENSG000000968726080409p21.2intraflagellar transport 7433689014[PMID]
PICK1ORPHA:171709Male infertility due to globozoospermiaDisease-causing germline mutation(s) inAssessedHGNC:9394ENSG0000010015160592622q13.1protein interacting with PRKCA 120562896[PMID]_22571172[PMID]
PMFBP1ORPHA:529970Male infertility due to acephalic spermatozoaDisease-causing germline mutation(s) inAssessedHGNC:17728ENSG0000011855761808516q22.2polyamine modulated factor 1 binding protein 130032984[PMID]
PPP2R3CORPHA:171709Male infertility due to globozoospermiaDisease-causing germline mutation(s) inAssessedHGNC:17485ENSG0000009202061590214q13.2protein phosphatase 2 regulatory subunit B''gamma30893644[PMID]
SPATA16ORPHA:171709Male infertility due to globozoospermiaDisease-causing germline mutation(s) inAssessedHGNC:29935ENSG000001449626098563q26.31spermatogenesis associated 1617847006[PMID]_22571172[PMID]
SUN5ORPHA:529970Male infertility due to acephalic spermatozoaDisease-causing germline mutation(s) inAssessedHGNC:16252ENSG0000016709861394220q11.21Sad1 and UNC84 domain containing 527640305[PMID]
ZPBPORPHA:171709Male infertility due to globozoospermiaDisease-causing germline mutation(s) inAssessedHGNC:15662ENSG000000428136084987p12.2zona pellucida binding protein31985809[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

8 annotations · validated 2016-01-06
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0012864Abnormal sperm morphology
HP:0008669Abnormal spermatogenesis
HP:0008734Decreased testicular size
HP:0012205Globozoospermia
HP:0000837Increased circulating gonadotropin level
HP:0011961Non-obstructive azoospermia
HP:0000118Phenotypic abnormality
HP:0012868Sperm tail anomaly

Run the differential on the 8 obligate / very frequent terms

Annotation source: 23315541[PMID]_21397063[PMID]_15533374[PMID]_21397064[PMID]_22653751[PMID]_16062000[PMID]_11726589[PMID]_21733974[PMID]_15533374[PMID]_6357995[PMID]_6380341[PMID]_17847006[PMID]_9207595[PMID]_17847006[PMID]_15533374[PMID]_9207595[PMID]_3338587[PMID]_15533374[PMID]_21397064[PMID]_23315541[PMID]_6380341[PMID]_4383[PMID]

7

Sources for this card