Male infertility due to NANOS1 mutation

General Information (adopted from Orphanet):

Synonyms, Signs: SPGF12
Number of Symptoms 5
OrphanetNr: 352613
OMIM Id: 615413
ICD-10: N46
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: autosomal dominant
Autosomal dominant inheritance
[Omim]
Age of onset: Adulthood
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000027) Azoospermia 28 / 7739
2
(HPO:0000789) Infertility 74 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Sertoli cell-only seminiferous tubule histology 1 / 7739
5
(OMIM) Oligoasthenoteratozoospermia (noted in 1 patient) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Kusz-Zamelczyk et al. (2013) screened 195 infertile Polish men with nonobstructive azoospermia or severe oligozoospermia, who were known to be negative for azoospermia factor (AZF) microdeletions (see 415000), and identified heterozygous mutations in 4 unrelated azoospermic patients (608226.0001 ...