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

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Aliases & Classifications for Spermatogenic Failure 25

MalaCards integrated aliases for Spermatogenic Failure 25:

Name: Spermatogenic Failure 25 ⁵⁷ ⁷⁵ ⁶

Spgf25 ⁵⁷ ⁷⁵

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

MedGen ⁴² CN244572

MeSH ⁴⁴ D007248

SNOMED-CT via HPO ⁶⁹ 425558002 48188009 276411001

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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, and related phenotypes are decreased testicular size and azoospermia

UniProtKB/Swiss-Prot : ⁷⁵ Spermatogenic failure 25: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in severe oligozoospermia or azoospermia.

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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

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Symptoms & Phenotypes for Spermatogenic Failure 25

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Spermatogenic Failure 25:

³²

#	Description	HPO Source Accession
1	decreased testicular size ³²	HP:0008734
2	azoospermia ³²	HP:0000027
3	cryptozoospermia ³²	HP:0030974

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Drugs & Therapeutics for Spermatogenic Failure 25

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 25

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Genetic Tests for Spermatogenic Failure 25

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Anatomical Context for Spermatogenic Failure 25

MalaCards organs/tissues related to Spermatogenic Failure 25:

⁴¹

Testes

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Publications for Spermatogenic Failure 25

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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	927.33	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	26199321 28355598 28303806

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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		GRCh37	Chromosome 8, 30703494: 30703494
6	TEX15	NM_001350162.1(TEX15): c.4189del (p.Ser1397Leufs)	deletion	Pathogenic		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

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Expression for Spermatogenic Failure 25

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

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Pathways for Spermatogenic Failure 25

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GO Terms for Spermatogenic Failure 25

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Sources for Spermatogenic Failure 25

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁸ Cochrane Library

⁹ Cosmic

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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²⁷ GEO DataSets

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³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

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³⁶ IUPHAR

³⁷ KEGG

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⁴⁰ LOVD

⁴¹ MalaCards

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

SPGF25 MCID: SPR128 MIFTS: 17	Spermatogenic Failure 25 (SPGF25) Categories: Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Spermatogenic Failure 25:

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

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