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 ⁵⁶ ⁷³ ²⁹ ⁶

Spgf25 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 617960

OMIM Phenotypic Series ⁵⁶ PS258150

MeSH ⁴³ D007248

MedGen ⁴¹ C4693765 CN244572

SNOMED-CT via HPO ⁶⁸ 258211005 276411001 425558002 more

Sources

Summaries for Spermatogenic Failure 25

OMIM : ⁵⁶ 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 : ⁷³ 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 3 family:

Spermatogenic Failure 6	Spermatogenic Failure 2
Spermatogenic Failure 5	Spermatogenic Failure 1
Spermatogenic Failure 4	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	Spermatogenic Failure 39
Spermatogenic Failure 40	Spermatogenic Failure 41
Spermatogenic Failure 42	Spermatogenic Failure 43

Sources

Symptoms & Phenotypes for Spermatogenic Failure 25

Human phenotypes related to Spermatogenic Failure 25:

³¹

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

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Sources

Drugs & Therapeutics for Spermatogenic Failure 25

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 25

Sources

Genetic Tests for Spermatogenic Failure 25

Genetic tests related to Spermatogenic Failure 25:

#	Genetic test	Affiliating Genes
1	Spermatogenic Failure 25 ²⁹	TEX15

Sources

Anatomical Context for Spermatogenic Failure 25

MalaCards organs/tissues related to Spermatogenic Failure 25:

⁴⁰

Testes

Sources

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. ⁵⁶ ⁶	Wang X...Gao ZL	28303806	2018
2	Two Novel TEX15 Mutations in a Family with Nonobstructive Azoospermia. ⁵⁶ ⁶	Colombo R...Bini M	28355598	2017
3	Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family. ⁵⁶ ⁶	Okutman O...Viville S	26199321	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	1017.52	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26199321 28303806 28355598

Sources

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

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 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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spermatogenic Failure 25 (SPGF25)

Aliases & Classifications for Spermatogenic Failure 25

MalaCards integrated aliases for Spermatogenic Failure 25:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spermatogenic Failure 25

Related Diseases for Spermatogenic Failure 25

Diseases in the Spermatogenic Failure 3 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

Genetic tests related to 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