raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:529970

Male infertility due to acephalic spermatozoa

Synonyms: Acephalic spermatozoa syndrome

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
Autosomal recessive
Age of onset
Adult
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enMale infertility due to acephalic spermatozoaAcephalic spermatozoa syndrome
frInfertilité masculine avec spermatozoides acéphaliques
deMännliche Infertilität durch kopflose SpermatozoenKopflose Spermatozoen-Syndrom
esInfertilidad masculina por espermatozoides acefálicosSíndrome de espermatozoides acefálicos
itInfertilità maschile da spermatozoi acefali
nlMannelijke onvruchtbaarheid door acefalische spermatozoaAcefalische spermatozoa syndroom
ptInfertilidade masculina por espermatozóides acéfalosSíndrome de espermatozóides acéfalos
plNiepłodność męska z powodu acefalicznych spermatocytów= en
csMužská neplodnost způsobená acefalickými spermiemiSyndrom acefalických spermií
ukЧоловіче безпліддя, зумовлене ацефальними сперматозоїдамиСиндром ацефалічних сперматозоїдів
zh无精导致的男性不育症无头精子综合征
trAsefalik spermatozoaya bağlı erkek infertilitesiAsefalik spermatozoa sendromu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM617187BTNTvalidated
OMIM618112BTNTvalidated
ICD-10N46NTBTattributedvalidated
MONDO0035153Evalidated

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):

No children.

4

Genes

2 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
PMFBP1Disease-causing germline mutation(s) inAssessedHGNC:17728ENSG0000011855761808516q22.2polyamine modulated factor 1 binding protein 130032984[PMID]
SUN5Disease-causing germline mutation(s) inAssessedHGNC:16252ENSG0000016709861394220q11.21Sad1 and UNC84 domain containing 527640305[PMID]
5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyValidatedORPHANET_27640305[PMID]_30032984[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

7 annotations · validated 2019-01-09
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0012869Acephalic spermatozoa
HP:0003251Male infertility
Frequent (79-30%)
HP:0000798Oligozoospermia
HP:0012207Reduced sperm motility
Occasional (29-5%)
HP:0012867Sperm mid-piece anomaly
Excluded (0%)
HP:0002916Abnormality of chromosome segregation
HP:0008226Androgen insufficiency

Run the differential on the 2 obligate / very frequent terms

Annotation source: 27640305[PMID]_30032984[PMID]_10402395[PMID]_29298896[PMID]

7

Sources for this card