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 ¹² ⁷² ²⁹ ⁶

Spgf25 ⁵⁷ ¹² ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

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 Gastrointestinal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111920

OMIM® ⁵⁷ 617960

OMIM Phenotypic Series ⁵⁷ PS258150

MeSH ⁴⁴ D007248

MedGen ⁴¹ C4693765 CN244572

SNOMED-CT via HPO ⁶⁸ 258211005 276411001 425558002 more

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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) (Updated 20-May-2021)

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 azoospermia and decreased testicular size

Disease Ontology : ¹² A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has material basis in homozygous or compound heterozygous mutation in TEX15 on chromosome 8p12.

UniProtKB/Swiss-Prot : ⁷² 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 6 family:

Spermatogenic Failure 2	Spermatogenic Failure 5
Spermatogenic Failure 1	Spermatogenic Failure 4
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	Spermatogenic Failure 39
Spermatogenic Failure 40	Spermatogenic Failure 41
Spermatogenic Failure 42	Spermatogenic Failure 43
Spermatogenic Failure 44	Spermatogenic Failure 45
Spermatogenic Failure 46	Spermatogenic Failure 47
Spermatogenic Failure 48	Spermatogenic Failure 49
Spermatogenic Failure 50	Spermatogenic Failure 51
Spermatogenic Failure 52	Spermatogenic Failure 53

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Symptoms & Phenotypes for Spermatogenic Failure 25

Human phenotypes related to Spermatogenic Failure 25:

³¹

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

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 (Updated 20-May-2021)

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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

Genetic tests related to Spermatogenic Failure 25:

#	Genetic test	Affiliating Genes
1	Spermatogenic Failure 25 ²⁹	TEX15

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Anatomical Context for Spermatogenic Failure 25

MalaCards organs/tissues related to Spermatogenic Failure 25:

⁴⁰

Testes

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Publications for Spermatogenic Failure 25

Articles related to Spermatogenic Failure 25:

#	Title	Authors	PMID	Year
1	Two Novel TEX15 Mutations in a Family with Nonobstructive Azoospermia. ⁵⁷ ⁶	Colombo R...Bini M	28355598	2017
2	Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family. ⁶ ⁵⁷	Okutman O...Viville S	26199321	2015
3	Case study of a patient with cryptozoospermia associated with a recessive TEX15 nonsense mutation. ⁵⁷	Wang X...Gao ZL	28303806	2018

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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	PubMed IDs
1	TEX15	Testis Expressed 15, Meiosis And Synapsis Associated	Protein Coding	1017.43	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26199321

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Variations for Spermatogenic Failure 25

ClinVar genetic disease variations for Spermatogenic Failure 25:

⁶ (show all 12)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TEX15	NM_001350162.2(TEX15):c.3279T>G (p.Tyr1093Ter)	SNV	Pathogenic	190036	rs864309485	GRCh37: 8:30704404-30704404 GRCh38: 8:30846888-30846888
2	TEX15	NM_001350162.2(TEX15):c.3568A>T (p.Lys1190Ter)	SNV	Pathogenic	523229	rs1554492164	GRCh37: 8:30704115-30704115 GRCh38: 8:30846599-30846599
3	TEX15	NM_001350162.2(TEX15):c.4189del (p.Ser1397fs)	Deletion	Pathogenic	523230	rs1554491783	GRCh37: 8:30703494-30703494 GRCh38: 8:30845978-30845978
4	TEX15	NM_001350162.2(TEX15):c.8083C>T (p.Arg2695Ter)	SNV	Pathogenic	523231	rs763654373	GRCh37: 8:30699600-30699600 GRCh38: 8:30842084-30842084
5	TEX15	NM_001350162.2(TEX15):c.1355T>G (p.Leu452Ter)	SNV	Pathogenic	998364		GRCh37: 8:30706328-30706328 GRCh38: 8:30848812-30848812
6	TEX15	NM_001350162.2(TEX15):c.3248del (p.Asn1083fs)	Deletion	Pathogenic	1030431		GRCh37: 8:30704435-30704435 GRCh38: 8:30846919-30846919
7	TEX15	NM_001350162.2(TEX15):c.4036C>T (p.Arg1346Ter)	SNV	Pathogenic	1030432		GRCh37: 8:30703647-30703647 GRCh38: 8:30846131-30846131
8	TEX15	NM_001350162.2(TEX15):c.4064del (p.Lys1355fs)	Deletion	Pathogenic	1030433		GRCh37: 8:30703619-30703619 GRCh38: 8:30846103-30846103
9	TEX15	NM_001350162.2(TEX15):c.5544_5547del (p.Gln1849fs)	Deletion	Pathogenic	1030434		GRCh37: 8:30702136-30702139 GRCh38: 8:30844620-30844623
10	TEX15	NM_001350162.2(TEX15):c.4534C>T (p.Gln1512Ter)	SNV	Pathogenic	1032738		GRCh37: 8:30703149-30703149 GRCh38: 8:30845633-30845633
11	TEX15	NM_001350162.2(TEX15):c.6848_6849del (p.Arg2283fs)	Microsatellite	Pathogenic	1032922		GRCh37: 8:30700834-30700835 GRCh38: 8:30843318-30843319
12	TEX15	NM_001350162.2(TEX15):c.3323T>C (p.Leu1108Pro)	SNV	Uncertain significance	1030942		GRCh37: 8:30704360-30704360 GRCh38: 8:30846844-30846844

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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

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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 6 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