SPERMATOGENIC FAILURE, Y-LINKED, 2

General Information (adopted from Orphanet):

Synonyms, Signs: AZOOSPERMIA, NONOBSTRUCTIVE, Y-LINKED
AZF REGIONS, INCLUDED
OLIGOSPERMIA, NONOBSTRUCTIVE, Y-LINKED
SPERMATOGENIC ARREST, Y-LINKED AZOOSPERMIA FACTOR REGIONS, INCLUDED
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
SPGFY2
OLIGOZOOSPERMIA, NONOBSTRUCTIVE, Y-LINKED
Number of Symptoms 4
OrphanetNr:
OMIM Id: 415000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000027) Azoospermia 28 / 7739
2
(OMIM) Azoospermia factor (AZF) 1 / 7739
3
(HPO:0001450) Y-linked inheritance 8 / 7739
4
(OMIM) Nonobstructive oligo- or azoospermia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) About 2 to 3% of human males are infertile because of defects in sperm function, primarily due to oligozoospermia (defined as less than 10-15 million sperm per mL of semen) or azoospermia (Hull et al., 1985).

...

Clinical Description OMIM Tiepolo and Zuffardi (1976) observed the involvement of Yq deletions in male infertility when they were analyzing cells from idiopathic infertile males. Molecular studies (Reijo et al., 1995; Vogt et al., 1996; Pryor et al., 1997, Foresta et ...
Molecular genetics OMIM Ma et al. (1993) reported the isolation and characterization of a gene family located within interval 6 (subinterval XII-XIV) of Yq11.23, a region of approximately 200 kb that, when deleted, is associated with azoospermia or severe oligospermia (see ...