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 57 12 29 6
Spgf15 57 12 74
Spermatogenic Failure, 15 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spermatogenic failure 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070172
MeSH 44 D007248

Summaries for Spermatogenic Failure 15

UniProtKB/Swiss-Prot : 74 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:

32
# Description HPO Frequency HPO Source Accession
1 aspiration 32 HP:0002835
2 non-obstructive azoospermia 32 HP:0011961

Symptoms via clinical synopsis from OMIM:

57
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. 8 71
25899990 2015
2
A Screen for Genomic Disorders of Infertility Identifies MAST2 Duplications Associated with Nonobstructive Azoospermia in Humans. 8
26203179 2015

Variations for Spermatogenic Failure 15

ClinVar genetic disease variations for Spermatogenic Failure 15:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SYCE1 NM_001143763.1(SYCE1): c.197-2A> G single nucleotide variant Pathogenic 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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