Spermatogenic Failure 27 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spermatogenic Failure 27

MalaCards integrated aliases for Spermatogenic Failure 27:

Name: Spermatogenic Failure 27 ⁵⁶ ⁷³ ²⁹ ⁶

Spgf27 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 brothers (last curated may 2018)

HPO:

³¹

spermatogenic failure 27:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 617965

OMIM Phenotypic Series ⁵⁶ PS258150

MeSH ⁴³ D007248

MedGen ⁴¹ C4693784 CN244916

SNOMED-CT via HPO ⁶⁸ 15296000 258211005 8619003

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Summaries for Spermatogenic Failure 27

OMIM : ⁵⁶ Spermatogenic failure-27 (SPGF27) is characterized by infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), a phenotype also designated as 'dysplasia of the fibrous sheath,' 'short tails,' or 'stump tails.' Spermatozoa in the ejaculate exhibit short, irregular, coiled, or absent flagella. Ultrastructural analysis shows loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization (Lores et al., 2018). For a discussion of the phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (617965)

MalaCards based summary : Spermatogenic Failure 27, is also known as spgf27. An important gene associated with Spermatogenic Failure 27 is AK7 (Adenylate Kinase 7). Related phenotype is infertility.

UniProtKB/Swiss-Prot : ⁷³ Spermatogenic failure 27: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple morphologic abnormalities of the sperm flagella, including short, irregular, coiled, or absent flagella.

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Related Diseases for Spermatogenic Failure 27

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

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Symptoms & Phenotypes for Spermatogenic Failure 27

Human phenotypes related to Spermatogenic Failure 27:

³¹

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

Symptoms via clinical synopsis from OMIM:

⁵⁶

Genitourinary Internal Genitalia Male:
infertility
absent flagella
short flagella
coiled flagella
bent flagella
more

Clinical features from OMIM:

617965

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Drugs & Therapeutics for Spermatogenic Failure 27

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 27

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Genetic Tests for Spermatogenic Failure 27

Genetic tests related to Spermatogenic Failure 27:

#	Genetic test	Affiliating Genes
1	Spermatogenic Failure 27 ²⁹	AK7

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Anatomical Context for Spermatogenic Failure 27

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Publications for Spermatogenic Failure 27

Articles related to Spermatogenic Failure 27:

#	Title	Authors	PMID	Year
1	Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia. ⁶ ⁵⁶	Lores P...Toure A	29365104	2018

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Genes for Spermatogenic Failure 27

Genes related to Spermatogenic Failure 27 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AK7	Adenylate Kinase 7	Protein Coding	1367.16	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	29365104

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Variations for Spermatogenic Failure 27

ClinVar genetic disease variations for Spermatogenic Failure 27:

⁶ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	AK7	NM_152327.5(AK7):c.2018T>G (p.Leu673Arg)	SNV	Pathogenic	523614	rs116298211	14:96953278-96953278	14:96486941-96486941
2	AK7	NM_152327.5(AK7):c.2018T>C (p.Leu673Pro)	SNV	Likely pathogenic	617939	rs116298211	14:96953278-96953278	14:96486941-96486941

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 27:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	AK7	p.Leu673Pro	VAR_080917	rs116298211

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Expression for Spermatogenic Failure 27

Search GEO for disease gene expression data for Spermatogenic Failure 27.

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Pathways for Spermatogenic Failure 27

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GO Terms for Spermatogenic Failure 27

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Sources for Spermatogenic Failure 27

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spermatogenic Failure 27 (SPGF27)

Aliases & Classifications for Spermatogenic Failure 27

MalaCards integrated aliases for Spermatogenic Failure 27:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spermatogenic Failure 27

Related Diseases for Spermatogenic Failure 27

Diseases in the Spermatogenic Failure 6 family:

Symptoms & Phenotypes for Spermatogenic Failure 27

Human phenotypes related to Spermatogenic Failure 27:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Spermatogenic Failure 27

Genetic Tests for Spermatogenic Failure 27

Genetic tests related to Spermatogenic Failure 27:

Anatomical Context for Spermatogenic Failure 27

Publications for Spermatogenic Failure 27

Articles related to Spermatogenic Failure 27:

Genes for Spermatogenic Failure 27

Genes related to Spermatogenic Failure 27 (1 elite genes):

Variations for Spermatogenic Failure 27

ClinVar genetic disease variations for Spermatogenic Failure 27:

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 27:

Expression for Spermatogenic Failure 27

Pathways for Spermatogenic Failure 27

GO Terms for Spermatogenic Failure 27

Sources for Spermatogenic Failure 27