SPERMATOGENIC FAILURE 1

General Information (adopted from Orphanet):

Synonyms, Signs: OLIGOCHIASMATIC INFERTILITY
OLIGOSYNAPTIC INFERTILITY
SPGF1
Number of Symptoms 4
OrphanetNr:
OMIM Id: 258150
ICD-10:
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:0000789) Infertility 74 / 7739
2
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
3
(OMIM) Deficiency of chiasmas in male meiosis 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The histologic picture of meiotic arrest is rather constant. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n but are then unable to proceed further. This results ...
Clinical Description OMIM Eight cases of infertility are known (Ferguson-Smith, 1973) in which a deficiency in synapsis during meiosis is evident by a deficiency of chiasmas in meiotic preparations from the testes. Since 3 of the males had first-cousin parents, the ...