SPGF25
MCID: SPR128
MIFTS: 17

Spermatogenic Failure 25 (SPGF25)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 25

MalaCards integrated aliases for Spermatogenic Failure 25:

Name: Spermatogenic Failure 25 58 76 6
Spgf25 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
heterozygous males are fertile, with normal testicular volumes and sperm concentrations


Classifications:



External Ids:

OMIM 58 617960
MeSH 45 D007248
SNOMED-CT via HPO 70 276411001 425558002 48188009

Summaries for Spermatogenic Failure 25

OMIM : 58 Spermatogenic failure-25 is characterized by small testes and infertility, with severe oligozoospermia or azoospermia due to maturation arrest at the primary spermatocyte stage (Okutman et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (617960)

MalaCards based summary : Spermatogenic Failure 25, is also known as spgf25. An important gene associated with Spermatogenic Failure 25 is TEX15 (Testis Expressed 15, Meiosis And Synapsis Associated). Affiliated tissues include testes, and related phenotypes are decreased testicular size and azoospermia

UniProtKB/Swiss-Prot : 76 Spermatogenic failure 25: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in severe oligozoospermia or azoospermia.

Symptoms & Phenotypes for Spermatogenic Failure 25

Human phenotypes related to Spermatogenic Failure 25:

33
# Description HPO Frequency HPO Source Accession
1 decreased testicular size 33 HP:0008734
2 azoospermia 33 HP:0000027
3 cryptozoospermia 33 HP:0030974

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
small testes
cryptozoospermia
azoospermia, nonobstructive
oligozoospermia, severe

Endocrine Features:
increased follicle-stimulating hormone (fsh) levels
increased luteinizing hormone (lh) levels
reduced testosterone levels
reduced inhibin b levels

Clinical features from OMIM:

617960

Drugs & Therapeutics for Spermatogenic Failure 25

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 25

Genetic Tests for Spermatogenic Failure 25

Anatomical Context for Spermatogenic Failure 25

MalaCards organs/tissues related to Spermatogenic Failure 25:

42
Testes

Publications for Spermatogenic Failure 25

Variations for Spermatogenic Failure 25

ClinVar genetic disease variations for Spermatogenic Failure 25:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TEX15 NM_001350162.1(TEX15): c.3279T> G (p.Tyr1093Ter) single nucleotide variant Pathogenic rs864309485 GRCh37 Chromosome 8, 30704404: 30704404
2 TEX15 NM_001350162.1(TEX15): c.3279T> G (p.Tyr1093Ter) single nucleotide variant Pathogenic rs864309485 GRCh38 Chromosome 8, 30846888: 30846888
3 TEX15 NM_001350162.1(TEX15): c.3568A> T (p.Lys1190Ter) single nucleotide variant Pathogenic rs1554492164 GRCh38 Chromosome 8, 30846599: 30846599
4 TEX15 NM_001350162.1(TEX15): c.3568A> T (p.Lys1190Ter) single nucleotide variant Pathogenic rs1554492164 GRCh37 Chromosome 8, 30704115: 30704115
5 TEX15 NM_001350162.1(TEX15): c.4189del (p.Ser1397Leufs) deletion Pathogenic rs1554491783 GRCh37 Chromosome 8, 30703494: 30703494
6 TEX15 NM_001350162.1(TEX15): c.4189del (p.Ser1397Leufs) deletion Pathogenic rs1554491783 GRCh38 Chromosome 8, 30845978: 30845978
7 TEX15 NM_001350162.1(TEX15): c.8083C> T (p.Arg2695Ter) single nucleotide variant Pathogenic rs763654373 GRCh38 Chromosome 8, 30842084: 30842084
8 TEX15 NM_001350162.1(TEX15): c.8083C> T (p.Arg2695Ter) single nucleotide variant Pathogenic rs763654373 GRCh37 Chromosome 8, 30699600: 30699600

Expression for Spermatogenic Failure 25

Search GEO for disease gene expression data for Spermatogenic Failure 25.

Pathways for Spermatogenic Failure 25

GO Terms for Spermatogenic Failure 25

Sources for Spermatogenic Failure 25

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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