SPGFY1
MCID: SPR092
MIFTS: 14

Spermatogenic Failure, Y-Linked, 1 (SPGFY1)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure, Y-Linked, 1

MalaCards integrated aliases for Spermatogenic Failure, Y-Linked, 1:

Name: Spermatogenic Failure, Y-Linked, 1 58 30
Sertoli Cell-Only Syndrome, Y-Linked 58 74
Spgfy1 58 12
Y-Linked Sertoli Cell-Only Syndrome 12
Sertoli Cell-Only Syndrome, Type I 58
Type I Sertoli Cell-Only Syndrome 12
Y-Linked Spermatogenic Failure 1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070186
OMIM 58 400042
MedGen 43 C4551960
UMLS 74 C1839073

Summaries for Spermatogenic Failure, Y-Linked, 1

OMIM : 58 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). (400042)

MalaCards based summary : Spermatogenic Failure, Y-Linked, 1, also known as sertoli cell-only syndrome, y-linked, is related to spermatogenic failure, x-linked, 1. An important gene associated with Spermatogenic Failure, Y-Linked, 1 is DELYQ11 (Sertoli Cell-Only Syndrome, Y-Linked).

Disease Ontology : 12 A Sertoli cell-only syndrome that has material basis in deletions in the Yq11 chromosomal region.

Related Diseases for Spermatogenic Failure, Y-Linked, 1

Diseases in the Spermatogenic Failure, Y-Linked, 2 family:

Spermatogenic Failure, X-Linked, 1 Spermatogenic Failure, X-Linked, 2
Spermatogenic Failure, Y-Linked, 1

Diseases related to Spermatogenic Failure, Y-Linked, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spermatogenic failure, x-linked, 1 11.2

Symptoms & Phenotypes for Spermatogenic Failure, Y-Linked, 1

Clinical features from OMIM:

400042

Drugs & Therapeutics for Spermatogenic Failure, Y-Linked, 1

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure, Y-Linked, 1

Genetic Tests for Spermatogenic Failure, Y-Linked, 1

Genetic tests related to Spermatogenic Failure, Y-Linked, 1:

# Genetic test Affiliating Genes
1 Spermatogenic Failure, Y-Linked, 1 30

Anatomical Context for Spermatogenic Failure, Y-Linked, 1

Publications for Spermatogenic Failure, Y-Linked, 1

Variations for Spermatogenic Failure, Y-Linked, 1

Expression for Spermatogenic Failure, Y-Linked, 1

Search GEO for disease gene expression data for Spermatogenic Failure, Y-Linked, 1.

Pathways for Spermatogenic Failure, Y-Linked, 1

GO Terms for Spermatogenic Failure, Y-Linked, 1

Sources for Spermatogenic Failure, Y-Linked, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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