Spermatogenic Failure 40 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spermatogenic Failure 40

MalaCards integrated aliases for Spermatogenic Failure 40:

Name: Spermatogenic Failure 40 ⁵⁶ ⁷³ ⁶

Spgf40 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
rare patients report symptoms consistent with primary ciliary dyskinesia (pcd), but a definitive diagnosis of pcd has not been confirmed in patients with cfap65-associated infertility

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618664

OMIM Phenotypic Series ⁵⁶ PS258150

MeSH ⁴³ D007248

MedGen ⁴¹ CN262872

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Summaries for Spermatogenic Failure 40

OMIM : ⁵⁶ Spermatogenic failure-40 (SPGF40) is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Patient spermatozoa may also show morphologic defects of the sperm head, with acrosomal hypoplasia or aplasia (Wang et al., 2019; Li et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618664)

MalaCards based summary : Spermatogenic Failure 40, is also known as spgf40. An important gene associated with Spermatogenic Failure 40 is CFAP65 (Cilia And Flagella Associated Protein 65).

UniProtKB/Swiss-Prot : ⁷³ Spermatogenic failure 40: An autosomal recessive infertility disorder characterized by severely reduced or absent sperm motility, due to multiple morphologic anomalies such as absent, short, bent, coiled and irregular-caliber tails. Patient spermatozoa may also show morphologic defects of the sperm head.

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Related Diseases for Spermatogenic Failure 40

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 40

Symptoms via clinical synopsis from OMIM:

⁵⁶

Genitourinary Internal Genitalia Male:
infertility
immotile sperm
no progressive motility
coiled flagella
bent flagella
more

Clinical features from OMIM:

618664

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Drugs & Therapeutics for Spermatogenic Failure 40

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 40

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Genetic Tests for Spermatogenic Failure 40

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Anatomical Context for Spermatogenic Failure 40

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Publications for Spermatogenic Failure 40

Articles related to Spermatogenic Failure 40:

#	Title	Authors	PMID	Year
1	A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella. ⁵⁶ ⁶	Zhang X...Yang Y	31571197	2019
2	Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations. ⁶ ⁵⁶	Wang W...Tan YQ	31413122	2019
3	Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. ⁶ ⁵⁶	Tang S...Zhang F	28552195	2017
4	Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice. ⁶	Li W...Zhang F	31501240	2020
5	Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. ⁵⁶	Coutton C...Ray PF	30686508	2019

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Genes for Spermatogenic Failure 40

Genes related to Spermatogenic Failure 40 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CFAP65	Cilia And Flagella Associated Protein 65	Protein Coding	917.49	Molecular basis known ⁵⁶ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	31413122 31571197 31501240 (more) 28552195
2	LOC100129175	Uncharacterized LOC100129175	RNA Gene	7.37	GeneCards inferred via : Variants (show sections)

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Variations for Spermatogenic Failure 40

ClinVar genetic disease variations for Spermatogenic Failure 40:

⁶ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	GRCh37 Pos	GRCh38 Pos
1	CFAP65	NM_194302.4(CFAP65):c.5341G>T (p.Glu1781Ter)	SNV	Pathogenic	694534	2:219868888-219868888	2:219004166-219004166
2	CFAP65	NM_194302.4(CFAP65):c.2284C>T (p.Arg762Ter)	SNV	Pathogenic	694535	2:219890809-219890809	2:219026087-219026087
3	CFAP65	NM_194302.4(CFAP65):c.1580del (p.Leu527fs)	deletion	Pathogenic	694536	2:219894195-219894195	2:219029473-219029473
4	CFAP65	NM_194302.4(CFAP65):c.2675G>A (p.Trp892Ter)	SNV	Pathogenic	694583	2:219888074-219888074	2:219023352-219023352

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Expression for Spermatogenic Failure 40

Search GEO for disease gene expression data for Spermatogenic Failure 40.

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Pathways for Spermatogenic Failure 40

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GO Terms for Spermatogenic Failure 40

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Sources for Spermatogenic Failure 40

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Spermatogenic Failure 40 (SPGF40)

Aliases & Classifications for Spermatogenic Failure 40

MalaCards integrated aliases for Spermatogenic Failure 40:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Spermatogenic Failure 40

Related Diseases for Spermatogenic Failure 40

Diseases in the Spermatogenic Failure 6 family:

Symptoms & Phenotypes for Spermatogenic Failure 40

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Spermatogenic Failure 40

Genetic Tests for Spermatogenic Failure 40

Anatomical Context for Spermatogenic Failure 40

Publications for Spermatogenic Failure 40

Articles related to Spermatogenic Failure 40:

Genes for Spermatogenic Failure 40

Genes related to Spermatogenic Failure 40 (1 elite genes):

Variations for Spermatogenic Failure 40

ClinVar genetic disease variations for Spermatogenic Failure 40:

Expression for Spermatogenic Failure 40

Pathways for Spermatogenic Failure 40

GO Terms for Spermatogenic Failure 40

Sources for Spermatogenic Failure 40