Spermatogenic Failure 32 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spermatogenic Failure 32

MalaCards integrated aliases for Spermatogenic Failure 32:

Name: Spermatogenic Failure 32 ⁵⁸ ⁷⁶ ⁶

Spgf32 ⁵⁸ ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 618115

MeSH ⁴⁵ D007248

MedGen ⁴³ CN253828

SNOMED-CT via HPO ⁷⁰ 15296000 425558002 48188009 more

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Summaries for Spermatogenic Failure 32

OMIM : ⁵⁸ Spermatogenic failure-32 is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy has shown absence of spermatogenic cells and a Sertoli cell-only pattern (Choi et al., 2010). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see 258150. (618115)

MalaCards based summary : Spermatogenic Failure 32, is also known as spgf32. An important gene associated with Spermatogenic Failure 32 is SOHLH1 (Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 1). Related phenotypes are azoospermia and infertility

UniProtKB/Swiss-Prot : ⁷⁶ Spermatogenic failure 32: An autosomal dominant infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia.

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Related Diseases for Spermatogenic Failure 32

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

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Symptoms & Phenotypes for Spermatogenic Failure 32

Human phenotypes related to Spermatogenic Failure 32:

³³

#	Description	HPO Frequency	HPO Source Accession
1	azoospermia ³³		HP:0000027
2	infertility ³³		HP:0000789

Symptoms via clinical synopsis from OMIM:

⁵⁸

Genitourinary Internal Genitalia Male:
infertility
nonobstructive azoospermia
no spermatogenic cells seen on testicular biopsy
sertoli cell-only pattern seen on testicular biopsy

Clinical features from OMIM:

618115

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Drugs & Therapeutics for Spermatogenic Failure 32

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 32

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Genetic Tests for Spermatogenic Failure 32

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Anatomical Context for Spermatogenic Failure 32

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Publications for Spermatogenic Failure 32

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Genes for Spermatogenic Failure 32

Genes related to Spermatogenic Failure 32 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SOHLH1	Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 1	Protein Coding	927.4	Molecular basis known ⁵⁸ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	20506135 28718531

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Variations for Spermatogenic Failure 32

ClinVar genetic disease variations for Spermatogenic Failure 32:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SOHLH1	NM_001012415.2(SOHLH1): c.346-1G> A	single nucleotide variant	Pathogenic		GRCh37	Chromosome 9, 138589474: 138589474
2	SOHLH1	NM_001012415.2(SOHLH1): c.346-1G> A	single nucleotide variant	Pathogenic		GRCh38	Chromosome 9, 135697628: 135697628

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Expression for Spermatogenic Failure 32

Search GEO for disease gene expression data for Spermatogenic Failure 32.

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Pathways for Spermatogenic Failure 32

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GO Terms for Spermatogenic Failure 32

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Sources for Spermatogenic Failure 32

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Spermatogenic Failure 32 (SPGF32)

Aliases & Classifications for Spermatogenic Failure 32

MalaCards integrated aliases for Spermatogenic Failure 32:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Spermatogenic Failure 32

Related Diseases for Spermatogenic Failure 32

Diseases in the Spermatogenic Failure 4 family:

Symptoms & Phenotypes for Spermatogenic Failure 32

Human phenotypes related to Spermatogenic Failure 32:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Spermatogenic Failure 32

Genetic Tests for Spermatogenic Failure 32

Anatomical Context for Spermatogenic Failure 32

Publications for Spermatogenic Failure 32

Genes for Spermatogenic Failure 32

Genes related to Spermatogenic Failure 32 (1 elite genes):

Variations for Spermatogenic Failure 32

ClinVar genetic disease variations for Spermatogenic Failure 32:

Expression for Spermatogenic Failure 32

Pathways for Spermatogenic Failure 32

GO Terms for Spermatogenic Failure 32

Sources for Spermatogenic Failure 32