Spermatogenic failure, y-linked, 1

Preferred Label : Spermatogenic failure, y-linked, 1;

Symbol : SPGFY1;

CISMeF acronym : SPGFY1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sertoli cell-only syndrome, y-linked; Sertoli cell-only syndrome, type I;

Included titles and symbols : Sertoli cell-only syndrome, type II; Hypospermatogenesis; Incomplete sertoli cell-only syndrome;

Description : 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 of tubules (SCO type II). It is believed that the latter variant arises from a failure to complete differentiation and maturation of spermatocytes and spermatids, leading to degeneration of germ cells within most tubules (Sargent et al., 1999). Another, possibly X-linked, form of Sertoli cell-only syndrome has also been reported (305700). - Heterogeneity of Spermatogenic Failure See 415000 for a general discussion of the AZF region of the Y chromosome and Y-linked nonobstructive spermatogenic failure. For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).;

Prefixed ID : #400042;

Details

Origin ID

400042;

UMLS CUI

C4551960;

Automatic exact mappings (from CISMeF team)
- Azoospermia [ICD-11 Subcategory]
- Hypospermatogenesis [NCIt concept]
- Hypospermatogenesis (finding) [SNOMED CT concept]
- incomplete sertoli Cell-Only syndrome [MeSH concept]
- incomplete sertoli Cell-Only syndrome [MeSH Supplementary Concept]
- oligospermia [MeSH Descriptor]
- sertoli Cell-Only syndrome, type II [MeSH concept]
- sertoli Cell-Only syndrome, type II [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Y-linked spermatogenic failure 1 [DO Concept]
- sertoli cell-only syndrome, Y-linked [MeSH concept]
- sertoli cell-only syndrome, Y-linked [MeSH Supplementary Concept]
DO Cross reference
- Y-linked spermatogenic failure 1 [DO Concept]
HPO term(s)
- Male infertility [HPO term]
- Reduced sperm motility [HPO term]
- Y-linked inheritance [HPO term]
ORDO concept(s)
- Partial chromosome Y deletion [ORDO Disease]
Related ORDO disease(s)
- Partial chromosome Y deletion [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- sertoli cell-only syndrome, Y-linked [MeSH Supplementary Concept]
- sertoli cell-only syndrome, Y-linked [MeSH concept]

Keyword's position in hierarchy(ies) :

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