SPERMATOGENIC FAILURE 4

General Information (adopted from Orphanet):

Synonyms, Signs: AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS
SPERMATOGENESIS ARREST PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 4
AZOOSPERMIA WITH MATURATION ARREST
RPRGL4
SPGF4
Number of Symptoms 7
OrphanetNr:
OMIM Id: 270960
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant 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:0000027) Azoospermia 28 / 7739
2
(HPO:0200067) Recurrent spontaneous abortion 6 / 7739
3
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Fetal loss after 6 to 10 weeks of gestation 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Testicular histology shows arrest of spermatogenesis at the pachytene stage of primary spermatocytes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Azoospermia, a condition in which there are no sperm present in the ejaculate, has historically been divided into 2 broad categories, obstructive (e.g., 277180) and nonobstructive. Among the genetically based, inherited nonobstructive causes are defects of spermatogenesis, which ...
Clinical Description OMIM Chaganti and German (1979) reported a family in which infertility due to azoospermia or oligospermia affected 3 men related through their mothers. Testicular tissue obtained from the 46,XY phenotypically male but azoospermic propositus exhibited normal zygotene and pachytene ...
Molecular genetics OMIM Miyamoto et al. (2003) screened for mutations in the SYCP3 (604759) gene in DNA from 19 unrelated azoospermic patients with maturation arrest and 75 normal pregnancy-proven fertile men. In 2 patients they identified a heterozygous 1-bp deletion (643delA; ...