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 58 12 30 6
Spgf15 58 12 76
Spermatogenic Failure, 15 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
spermatogenic failure 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070172
OMIM 58 616950
MeSH 45 D007248
SNOMED-CT via HPO 70 258211005 413585005 68052005

Summaries for Spermatogenic Failure 15

UniProtKB/Swiss-Prot : 76 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 non-obstructive azoospermia and aspiration

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.

Description from OMIM: 616950

Symptoms & Phenotypes for Spermatogenic Failure 15

Human phenotypes related to Spermatogenic Failure 15:

33
# Description HPO Frequency HPO Source Accession
1 non-obstructive azoospermia 33 HP:0011961
2 aspiration 33 HP:0002835

Symptoms via clinical synopsis from OMIM:

58
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 30 SYCE1

Anatomical Context for Spermatogenic Failure 15

Publications for Spermatogenic Failure 15

Articles related to Spermatogenic Failure 15:

# Title Authors Year
1
Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia. ( 25899990 )
2015

Variations for Spermatogenic Failure 15

ClinVar genetic disease variations for Spermatogenic Failure 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SYCE1 NM_001143763.1(SYCE1): c.197-2A> G single nucleotide variant Pathogenic rs774225566 GRCh38 Chromosome 10, 133558953: 133558953
2 SYCE1 NM_001143763.1(SYCE1): c.197-2A> G single nucleotide variant Pathogenic rs774225566 GRCh37 Chromosome 10, 135372457: 135372457

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
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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