Spermatogenic Failure 29 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spermatogenic Failure 29

MalaCards integrated aliases for Spermatogenic Failure 29:

Name: Spermatogenic Failure 29 ⁵⁷ ¹² ⁷² ²⁹ ⁶

Spgf29 ⁵⁷ ¹² ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 affected brothers (last curated august 2018)
heterozygotes may exhibit oligoteratozoospermia with reduced fertility

HPO:

³¹

spermatogenic failure 29:
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:0111930

OMIM® ⁵⁷ 618091

OMIM Phenotypic Series ⁵⁷ PS258150

MeSH ⁴⁴ D007248

MedGen ⁴¹ C4748142 CN252705

SNOMED-CT via HPO ⁶⁸ 258211005 425558002 48188009

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Summaries for Spermatogenic Failure 29

OMIM® : ⁵⁷ Spermatogenic failure-29 is characterized by nonobstructive azoospermia or oligozoospermia. Sperm that are present are immotile and exhibit abnormal morphology, primarily defects of the acrosome and head-neck junction (Kherraf et al., 2017). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618091) (Updated 05-Apr-2021)

MalaCards based summary : Spermatogenic Failure 29, is also known as spgf29. An important gene associated with Spermatogenic Failure 29 is SPINK2 (Serine Peptidase Inhibitor Kazal Type 2). Related phenotype is azoospermia.

Disease Ontology : ¹² A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has material basis in homozygous or compound geterozygous mutation in SPINK2 on chromosome 4q12.

UniProtKB/Swiss-Prot : ⁷² Spermatogenic failure 29: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia or oligozoospermia. When produced, spermatozoa are immotile and have abnormal morphology, primarily defects of the acrosome and head-neck junction.

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Related Diseases for Spermatogenic Failure 29

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 29

Human phenotypes related to Spermatogenic Failure 29:

³¹

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Genitourinary Internal Genitalia Male:
azoospermia
immotile sperm
oligozoospermia
pin-shaped sperm heads
absent acrosome
more

Clinical features from OMIM®:

618091 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Spermatogenic Failure 29

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 29

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Genetic Tests for Spermatogenic Failure 29

Genetic tests related to Spermatogenic Failure 29:

#	Genetic test	Affiliating Genes
1	Spermatogenic Failure 29 ²⁹	SPINK2

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Anatomical Context for Spermatogenic Failure 29

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Publications for Spermatogenic Failure 29

Articles related to Spermatogenic Failure 29:

#	Title	Authors	PMID	Year
1	SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes. ⁵⁷ ⁶	Kherraf ZE...Arnoult C	28554943	2017

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Genes for Spermatogenic Failure 29

Genes related to Spermatogenic Failure 29 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SPINK2	Serine Peptidase Inhibitor Kazal Type 2	Protein Coding	1066.64	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	28554943

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Variations for Spermatogenic Failure 29

ClinVar genetic disease variations for Spermatogenic Failure 29:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SPINK2	NM_001271718.2(SPINK2):c.206-3C>G	SNV	Pathogenic	559843	rs577163578	GRCh37: 4:57686748-57686748 GRCh38: 4:56820582-56820582
2	SPINK2	NM_001271718.2(SPINK2):c.360-3C>T	SNV	Uncertain significance	1028720		GRCh37: 4:57676353-57676353 GRCh38: 4:56810187-56810187

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Expression for Spermatogenic Failure 29

Search GEO for disease gene expression data for Spermatogenic Failure 29.

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Pathways for Spermatogenic Failure 29

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GO Terms for Spermatogenic Failure 29

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Sources for Spermatogenic Failure 29

¹ BioSystems

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⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Spermatogenic Failure 29 (SPGF29)

Aliases & Classifications for Spermatogenic Failure 29

MalaCards integrated aliases for Spermatogenic Failure 29:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Spermatogenic Failure 29

Related Diseases for Spermatogenic Failure 29

Diseases in the Spermatogenic Failure 6 family:

Symptoms & Phenotypes for Spermatogenic Failure 29

Human phenotypes related to Spermatogenic Failure 29:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Spermatogenic Failure 29

Genetic Tests for Spermatogenic Failure 29

Genetic tests related to Spermatogenic Failure 29:

Anatomical Context for Spermatogenic Failure 29

Publications for Spermatogenic Failure 29

Articles related to Spermatogenic Failure 29:

Genes for Spermatogenic Failure 29

Genes related to Spermatogenic Failure 29 (1 elite genes):

Variations for Spermatogenic Failure 29

ClinVar genetic disease variations for Spermatogenic Failure 29:

Expression for Spermatogenic Failure 29

Pathways for Spermatogenic Failure 29

GO Terms for Spermatogenic Failure 29

Sources for Spermatogenic Failure 29