SPGFY1
MCID: SPR092
MIFTS: 30

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 57 29 13
Sertoli Cell-Only Syndrome, Y-Linked 57 70
Y-Linked Spermatogenic Failure 1 12 15
Spgfy1 57 12
Y-Linked Sertoli Cell-Only Syndrome 12
Sertoli Cell-Only Syndrome, Type I 57
Type I Sertoli Cell-Only Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070186
OMIM® 57 400042
OMIM Phenotypic Series 57 PS258150
UMLS 70 C1839073

Summaries for Spermatogenic Failure, Y-Linked, 1

OMIM® : 57 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) (Updated 20-May-2021)

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 and epilepsy, idiopathic generalized 15. An important gene associated with Spermatogenic Failure, Y-Linked, 1 is DELYQ11 (Sertoli Cell-Only Syndrome, Y-Linked), and among its related pathways/superpathways are Signaling pathways regulating pluripotency of stem cells and Regulation of Wnt-mediated beta catenin signaling and target gene transcription. Affiliated tissues include skin, ovary and myeloid, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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

Graphical network of the top 20 diseases related to Spermatogenic Failure, Y-Linked, 1:



Diseases related to Spermatogenic Failure, Y-Linked, 1

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

Clinical features from OMIM®:

400042 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Spermatogenic Failure, Y-Linked, 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.23 KITLG
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.23 KLF4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.23 KLF4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.23 MYC
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-41 9.23 KITLG
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.23 KLF4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.23 KLF4 MYC

MGI Mouse Phenotypes related to Spermatogenic Failure, Y-Linked, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.26 KITLG KLF4 MYC POU5F1
2 integument MP:0010771 8.92 KITLG KLF4 MYC POU5F1

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 29

Anatomical Context for Spermatogenic Failure, Y-Linked, 1

MalaCards organs/tissues related to Spermatogenic Failure, Y-Linked, 1:

40
Skin, Ovary, Myeloid

Publications for Spermatogenic Failure, Y-Linked, 1

Articles related to Spermatogenic Failure, Y-Linked, 1:

(show all 16)
# Title Authors PMID Year
1
Spermatogenesis in a man with complete deletion of USP9Y. 57
19246359 2009
2
The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. 57
12525536 2003
3
Inhibin B: a marker for the functional state of the seminiferous epithelium in patients with azoospermia factor C microdeletions. 57
12466362 2002
4
High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. 57
11574668 2001
5
Sertoli cell function in infertile patients with and without microdeletions of the azoospermia factors on the Y chromosome long arm. 57
11397833 2001
6
Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome. 57
11095434 2000
7
Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. 57
11030762 2000
8
Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility. 57
10767340 2000
9
An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. 57
10581029 1999
10
The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences. 57
10507722 1999
11
High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. 57
9557827 1998
12
Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene. 57
9384609 1998
13
Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. 57
8817327 1996
14
Molecular scanning of Yq11 (interval 6) in men with Sertoli-cell-only syndrome. 57
2603934 1989
15
Syndrome produced by absence of the germinal epithelium without impairment of the Sertoli or Leydig cells. 57
20260948 1947
16
Biotechnological approaches to the treatment of aspermatogenic men. 61
23503966 2013

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

Biological processes related to Spermatogenic Failure, Y-Linked, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.43 POU5F1 MYC KLF4
2 positive regulation of gene expression GO:0010628 9.33 POU5F1 MYC KLF4
3 somatic stem cell population maintenance GO:0035019 8.96 POU5F1 KLF4
4 positive regulation of telomerase activity GO:0051973 8.62 MYC KLF4

Molecular functions related to Spermatogenic Failure, Y-Linked, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.33 POU5F1 MYC KLF4
2 proximal promoter sequence-specific DNA binding GO:0000987 8.96 POU5F1 KLF4
3 transcription factor binding GO:0008134 8.8 POU5F1 MYC KLF4

Sources for Spermatogenic Failure, Y-Linked, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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