SPGF25
MCID: SPR128
MIFTS: 20

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 57 74 29 6
Spgf25 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spermatogenic failure 25:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D007248

Summaries for Spermatogenic Failure 25

OMIM : 57 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 : 74 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:

32
# Description HPO Frequency HPO Source Accession
1 decreased testicular size 32 HP:0008734
2 azoospermia 32 HP:0000027
3 cryptozoospermia 32 HP:0030974

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Male:
cryptozoospermia
small testes
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

Genetic tests related to Spermatogenic Failure 25:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 25 29 TEX15

Anatomical Context for Spermatogenic Failure 25

MalaCards organs/tissues related to Spermatogenic Failure 25:

41
Testes

Publications for Spermatogenic Failure 25

Articles related to Spermatogenic Failure 25:

# Title Authors PMID Year
1
Case study of a patient with cryptozoospermia associated with a recessive TEX15 nonsense mutation. 8 71
28303806 2018
2
Two Novel TEX15 Mutations in a Family with Nonobstructive Azoospermia. 8 71
28355598 2017
3
Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family. 8 71
26199321 2015

Variations for Spermatogenic Failure 25

ClinVar genetic disease variations for Spermatogenic Failure 25:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TEX15 NM_001350162.2(TEX15): c.3568A> T (p.Lys1190Ter) single nucleotide variant Pathogenic rs1554492164 8:30704115-30704115 8:30846599-30846599
2 TEX15 NM_001350162.2(TEX15): c.4189del (p.Ser1397fs) deletion Pathogenic rs1554491783 8:30703494-30703494 8:30845978-30845978
3 TEX15 NM_001350162.2(TEX15): c.8083C> T (p.Arg2695Ter) single nucleotide variant Pathogenic rs763654373 8:30699600-30699600 8:30842084-30842084
4 TEX15 NM_001350162.2(TEX15): c.3279T> G (p.Tyr1093Ter) single nucleotide variant Pathogenic rs864309485 8:30704404-30704404 8:30846888-30846888

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
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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