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 ⁵⁷ ¹² ⁷² ²⁹ ⁶

Spgf32 ⁵⁷ ¹² ⁷²

Spermatogenic Failure, Type 32 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal dominant

HPO:

³¹

spermatogenic failure 32:
Inheritance autosomal dominant 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:0111925

OMIM® ⁵⁷ 618115

OMIM Phenotypic Series ⁵⁷ PS258150

MeSH ⁴⁴ D007248

MedGen ⁴¹ C4748253 CN253828

SNOMED-CT via HPO ⁶⁸ 15296000 263681008 425558002 more

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Summaries for Spermatogenic Failure 32

OMIM® : ⁵⁷ 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) (Updated 05-Apr-2021)

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). Affiliated tissues include testes, and related phenotypes are azoospermia and infertility

Disease Ontology : ¹² A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has material basis in heterozygous mutation in SOHLH1 on chromosome 9q34.3.

UniProtKB/Swiss-Prot : ⁷² 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 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 32

Human phenotypes related to Spermatogenic Failure 32:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	azoospermia ³¹		HP:0000027
2	infertility ³¹		HP:0000789

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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 (Updated 05-Apr-2021)

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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

Genetic tests related to Spermatogenic Failure 32:

#	Genetic test	Affiliating Genes
1	Spermatogenic Failure 32 ²⁹	SOHLH1

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Anatomical Context for Spermatogenic Failure 32

MalaCards organs/tissues related to Spermatogenic Failure 32:

⁴⁰

Testes

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Publications for Spermatogenic Failure 32

Articles related to Spermatogenic Failure 32:

#	Title	Authors	PMID	Year
1	Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations. ⁵⁷ ⁶	Nakamura S...Fukami M	28718531	2017
2	Mutations in SOHLH1 gene associate with nonobstructive azoospermia. ⁵⁷ ⁶	Choi Y...Shim SH	20506135	2010

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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	PubMed IDs
1	SOHLH1	Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 1	Protein Coding	1016.83	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ 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	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SOHLH1	NM_001101677.2(SOHLH1):c.346-1G>A	SNV	Pathogenic	560884	rs140132974	GRCh37: 9:138589474-138589474 GRCh38: 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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⁷³ Wikipedia

Spermatogenic Failure 32 (SPGF32)

Aliases & Classifications for Spermatogenic Failure 32

MalaCards integrated aliases for Spermatogenic Failure 32:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Spermatogenic Failure 32

Related Diseases for Spermatogenic Failure 32

Diseases in the Spermatogenic Failure 6 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

Genetic tests related to Spermatogenic Failure 32:

Anatomical Context for Spermatogenic Failure 32

MalaCards organs/tissues related to Spermatogenic Failure 32:

Publications for Spermatogenic Failure 32

Articles related to 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