MCID: SPR128
MIFTS: 13

Spermatogenic Failure 25

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 25

MalaCards integrated aliases for Spermatogenic Failure 25:

Name: Spermatogenic Failure 25 57 6
Spgf25 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617960

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.

Symptoms & Phenotypes for Spermatogenic Failure 25

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
small testes
azoospermia, nonobstructive
oligozoospermia, severe
cryptozoospermia

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:

41
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 GRCh38 Chromosome 8, 30846599: 30846599
4 TEX15 NM_001350162.1(TEX15): c.3568A> T (p.Lys1190Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 30704115: 30704115
5 TEX15 NM_001350162.1(TEX15): c.4189del (p.Ser1397Leufs) deletion Pathogenic GRCh38 Chromosome 8, 30845978: 30845978
6 TEX15 NM_001350162.1(TEX15): c.4189del (p.Ser1397Leufs) deletion Pathogenic GRCh37 Chromosome 8, 30703494: 30703494
7 TEX15 NM_001350162.1(TEX15): c.8083C> T (p.Arg2695Ter) single nucleotide variant Pathogenic rs763654373 GRCh37 Chromosome 8, 30699600: 30699600
8 TEX15 NM_001350162.1(TEX15): c.8083C> T (p.Arg2695Ter) single nucleotide variant Pathogenic rs763654373 GRCh38 Chromosome 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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