Male infertility associated with large-headed multiflagellar polyploid spermatozoa

General Information (adopted from Orphanet):

Synonyms, Signs: INFERTILITY ASSOCIATED WITH MULTI-TAILED SPERMATOZOA AND EXCESSIVE DNA
MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA
SPGF5
Number of Symptoms 7
OrphanetNr: 137893
OMIM Id: 243060
ICD-10: N46
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003251) Male infertility 14 / 7739
2
(HPO:0000025) Functional abnormality of male internal genitalia 2 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(OMIM) Multi-tailed spermatozoa 1 / 7739
5
(OMIM) Irregularly shaped sperm heads 1 / 7739
6
(OMIM) Large spermatozoa 1 / 7739
7
(OMIM) Polyploid sperm heads 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In the son of Libyan first-cousin parents, German et al. (1981) found infertility apparently related to an abnormality of spermatozoa manifested morphologically by bulky, irregularly shaped heads and as many as 4 tails. Sperm heads showed excessive DNA, ...
Molecular genetics OMIM Dieterich et al. (2007) carried out a genomewide microsatellite scan of 10 infertile men with a large-headed sperm phenotype. Four were unrelated French citizens of African descent, all born from first-degree cousins, leading to a suspicion of autosomal ...