SPERMATOGENIC FAILURE, X-LINKED, 1

General Information (adopted from Orphanet):

Synonyms, Signs: SPGFX1
DEL CASTILLO SYNDROME
GERMINAL CELL APLASIA
SERTOLI CELL-ONLY SYNDROME
Number of Symptoms 6
OrphanetNr:
OMIM Id: 305700
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:0000771) Gynecomastia 53 / 7739
2
(HPO:0000765) Abnormality of the thorax 64 / 7739
3
(HPO:0001513) Obesity 172 / 7739
4
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
5
(OMIM) Germinal cell aplasia on testicular biopsy 1 / 7739
6
(OMIM) Pubertal gynecomastia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) In the evaluation of male infertility, the Sertoli cell-only (SCO) syndrome is diagnosed on testicular biopsy when either no germ cells are visible in any seminiferous tubules (SCO type I) or germ cells are present in a minority ...
Clinical Description OMIM Edwards and Bannerman (1971) observed 2 brothers, aged 14 and 12, with gynecomastia and obesity. Their disorder might have been classified simply as adolescent or pubertal gynecomastia were it not for the existence of 2 maternal uncles with ...
Molecular genetics OMIM The USP26 gene (300309), which is specifically expressed in testis tissue, has been studied as a potential infertility gene. In 8 of 111 patients (7.2%) with Sertoli cell-only syndrome, Stouffs et al. (2005) found the same 3 changes ...