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 ⁵⁷ ⁶

Spgf25 ⁵⁷

Characteristics:

OMIM:

⁵⁷

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 ⁵⁷ 617960

Sources

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.

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

Sources

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

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:

⁴¹

Testes

Sources

Publications for Spermatogenic Failure 25

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	900	Molecular basis known ⁵⁷ Pathogenic ⁶	26199321 28355598

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		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

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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia