Spermatogenic Failure 25 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Reproductive diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 617960

MeSH ⁴⁵ D007248

MedGen ⁴³ C4693765 CN244572

SNOMED-CT via HPO ⁷⁰ 276411001 425558002 48188009

Sources

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.

Sources

Related Diseases for Spermatogenic Failure 25

Diseases in the Spermatogenic Failure 4 family:

Spermatogenic Failure 6	Spermatogenic Failure 2
Spermatogenic Failure 5	Spermatogenic Failure 1
Spermatogenic Failure 3	Spermatogenic Failure 7
Spermatogenic Failure 8	Spermatogenic Failure 9
Spermatogenic Failure 10	Spermatogenic Failure 11
Spermatogenic Failure 12	Spermatogenic Failure 13
Spermatogenic Failure 14	Spermatogenic Failure 15
Spermatogenic Failure 16	Spermatogenic Failure 17
Spermatogenic Failure 18	Spermatogenic Failure 19
Spermatogenic Failure 20	Spermatogenic Failure 21
Spermatogenic Failure 22	Spermatogenic Failure 23
Spermatogenic Failure 24	Spermatogenic Failure 25
Spermatogenic Failure 26	Spermatogenic Failure 27
Spermatogenic Failure 28	Spermatogenic Failure 29
Spermatogenic Failure 30	Spermatogenic Failure 31
Spermatogenic Failure 32	Spermatogenic Failure 33
Spermatogenic Failure 34	Spermatogenic Failure 35
Spermatogenic Failure 36	Spermatogenic Failure 37
Spermatogenic Failure 38

Sources

Symptoms & Phenotypes for Spermatogenic Failure 25

Human phenotypes related to Spermatogenic Failure 25:

³³

#	Description	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

Sources

Drugs & Therapeutics for Spermatogenic Failure 25

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 25

Sources

Genetic Tests for Spermatogenic Failure 25

Sources

Anatomical Context for Spermatogenic Failure 25

MalaCards organs/tissues related to Spermatogenic Failure 25:

⁴²

Testes

Sources

Publications for Spermatogenic Failure 25

Articles related to Spermatogenic Failure 25:

#	Title	Authors	Year
1	Case study of a patient with cryptozoospermia associated with a recessive TEX15 nonsense mutation. ( 28303806 )	Wang X...Gao ZL	2018
2	Two Novel TEX15 Mutations in a Family with Nonobstructive Azoospermia. ( 28355598 )	Colombo R...Bini M	2017
3	Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family. ( 26199321 )	Okutman O...Viville S	2015

Sources

Genes for Spermatogenic Failure 25

Genes related to Spermatogenic Failure 25 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TEX15	Testis Expressed 15, Meiosis And Synapsis Associated	Protein Coding	927.66	Molecular basis known ⁵⁸ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	26199321 28355598 28303806

Sources

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

Sources

Expression for Spermatogenic Failure 25

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

Sources

Pathways for Spermatogenic Failure 25

Sources

GO Terms for Spermatogenic Failure 25

Sources

Sources for Spermatogenic Failure 25

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Spermatogenic Failure 25 (SPGF25)

Aliases & Classifications for Spermatogenic Failure 25

MalaCards integrated aliases for Spermatogenic Failure 25:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Spermatogenic Failure 25

Related Diseases for Spermatogenic Failure 25

Diseases in the Spermatogenic Failure 4 family:

Symptoms & Phenotypes for Spermatogenic Failure 25

Human phenotypes related to Spermatogenic Failure 25:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Spermatogenic Failure 25

Genetic Tests for Spermatogenic Failure 25

Anatomical Context for Spermatogenic Failure 25

MalaCards organs/tissues related to Spermatogenic Failure 25:

Publications for Spermatogenic Failure 25

Articles related to Spermatogenic Failure 25:

Genes for Spermatogenic Failure 25

Genes related to Spermatogenic Failure 25 (1 elite genes):

Variations for Spermatogenic Failure 25

ClinVar genetic disease variations for Spermatogenic Failure 25:

Expression for Spermatogenic Failure 25

Pathways for Spermatogenic Failure 25

GO Terms for Spermatogenic Failure 25

Sources for Spermatogenic Failure 25