SPGF15
MCID: SPR116
MIFTS: 17

Spermatogenic Failure 15 (SPGF15)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 15

MalaCards integrated aliases for Spermatogenic Failure 15:

Name: Spermatogenic Failure 15 56 12 29 6
Spgf15 56 12 73
Spermatogenic Failure, 15 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
two iranian-jewish brothers have been reported (last curated may 2016)


HPO:

31
spermatogenic failure 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070172
OMIM 56 616950
OMIM Phenotypic Series 56 PS258150
MeSH 43 D007248
SNOMED-CT via HPO 68 258211005 413585005 68052005

Summaries for Spermatogenic Failure 15

UniProtKB/Swiss-Prot : 73 Spermatogenic failure, 15: An infertility disorder caused by spermatogenesis defects and characterized by non-obstructive azoospermia due to complete meiotic maturation arrest. SPGF15 inheritance is autosomal recessive.

MalaCards based summary : Spermatogenic Failure 15, is also known as spgf15. An important gene associated with Spermatogenic Failure 15 is SYCE1 (Synaptonemal Complex Central Element Protein 1). Related phenotypes are aspiration and non-obstructive azoospermia

Disease Ontology : 12 An azoospermia characterized by autosomal recessive inheritance of azoospermia that has material basis in mutation in the SYCE1 gene on chromosome 10q26.

More information from OMIM: 616950 PS258150

Symptoms & Phenotypes for Spermatogenic Failure 15

Human phenotypes related to Spermatogenic Failure 15:

31
# Description HPO Frequency HPO Source Accession
1 aspiration 31 HP:0002835
2 non-obstructive azoospermia 31 HP:0011961

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
azoospermia, nonobstructive
primary spermatocytes only on testicular fine needle aspiration
complete meiotic maturation arrest

Clinical features from OMIM:

616950

Drugs & Therapeutics for Spermatogenic Failure 15

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 15

Genetic Tests for Spermatogenic Failure 15

Genetic tests related to Spermatogenic Failure 15:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 15 29 SYCE1

Anatomical Context for Spermatogenic Failure 15

Publications for Spermatogenic Failure 15

Articles related to Spermatogenic Failure 15:

# Title Authors PMID Year
1
Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia. 56 6
25899990 2015
2
A Screen for Genomic Disorders of Infertility Identifies MAST2 Duplications Associated with Nonobstructive Azoospermia in Humans. 56
26203179 2015

Variations for Spermatogenic Failure 15

ClinVar genetic disease variations for Spermatogenic Failure 15:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SYCE1 NM_001143763.1(SYCE1):c.197-2A>GSNV Pathogenic 226420 rs774225566 10:135372457-135372457 10:133558953-133558953

Expression for Spermatogenic Failure 15

Search GEO for disease gene expression data for Spermatogenic Failure 15.

Pathways for Spermatogenic Failure 15

GO Terms for Spermatogenic Failure 15

Sources for Spermatogenic Failure 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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