SPGF25
MCID: SPR128
MIFTS: 21

Spermatogenic Failure 25 (SPGF25)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 25

MalaCards integrated aliases for Spermatogenic Failure 25:

Name: Spermatogenic Failure 25 57 12 73 29 6
Spgf25 57 12 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
spermatogenic failure 25:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111920
OMIM® 57 617960
OMIM Phenotypic Series 57 PS258150
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) (Updated 05-Mar-2021)

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 azoospermia and decreased testicular size

Disease Ontology : 12 A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has material basis in homozygous or compound heterozygous mutation in TEX15 on chromosome 8p12.

UniProtKB/Swiss-Prot : 73 Spermatogenic failure 25: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in severe oligozoospermia or azoospermia.

Related Diseases for Spermatogenic Failure 25

Symptoms & Phenotypes for Spermatogenic Failure 25

Human phenotypes related to Spermatogenic Failure 25:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027
2 decreased testicular size 31 HP:0008734
3 cryptozoospermia 31 HP:0030974

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

40
Testes

Publications for Spermatogenic Failure 25

Articles related to Spermatogenic Failure 25:

# Title Authors PMID Year
1
Two Novel TEX15 Mutations in a Family with Nonobstructive Azoospermia. 57 6
28355598 2017
2
Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family. 6 57
26199321 2015
3
Case study of a patient with cryptozoospermia associated with a recessive TEX15 nonsense mutation. 57
28303806 2018

Variations for Spermatogenic Failure 25

ClinVar genetic disease variations for Spermatogenic Failure 25:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TEX15 NM_001350162.2(TEX15):c.3279T>G (p.Tyr1093Ter) SNV Pathogenic 190036 rs864309485 8:30704404-30704404 8:30846888-30846888
2 TEX15 NM_001350162.2(TEX15):c.3568A>T (p.Lys1190Ter) SNV Pathogenic 523229 rs1554492164 8:30704115-30704115 8:30846599-30846599
3 TEX15 NM_001350162.2(TEX15):c.4189del (p.Ser1397fs) Deletion Pathogenic 523230 rs1554491783 8:30703494-30703494 8:30845978-30845978
4 TEX15 NM_001350162.2(TEX15):c.8083C>T (p.Arg2695Ter) SNV Pathogenic 523231 rs763654373 8:30699600-30699600 8:30842084-30842084

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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