Spermatogenic Failure 42 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spermatogenic Failure 42

MalaCards integrated aliases for Spermatogenic Failure 42:

Name: Spermatogenic Failure 42 ⁵⁶ ⁶

Spgf42 ⁵⁶

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618745

OMIM Phenotypic Series ⁵⁶ PS258150

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Summaries for Spermatogenic Failure 42

OMIM : ⁵⁶ Spermatogenic failure-42 (SPGF42) is characterized by infertility and spermatozoa with almost no progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece (Lores et al., 2019; Liu et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618745)

MalaCards based summary : Spermatogenic Failure 42, is also known as spgf42. An important gene associated with Spermatogenic Failure 42 is TTC29 (Tetratricopeptide Repeat Domain 29).

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Related Diseases for Spermatogenic Failure 42

Diseases in the Spermatogenic Failure 3 family:

Spermatogenic Failure 6	Spermatogenic Failure 2
Spermatogenic Failure 5	Spermatogenic Failure 1
Spermatogenic Failure 4	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 42

Symptoms via clinical synopsis from OMIM:

⁵⁶

Genitourinary Internal Genitalia Male:
infertility
reduced sperm motility
coiled sperm flagella
tapered sperm head
bent sperm flagella
more

Clinical features from OMIM:

618745

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Drugs & Therapeutics for Spermatogenic Failure 42

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 42

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Genetic Tests for Spermatogenic Failure 42

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Anatomical Context for Spermatogenic Failure 42

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Publications for Spermatogenic Failure 42

Articles related to Spermatogenic Failure 42:

#	Title	Authors	PMID	Year
1	Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility. ⁵⁶ ⁶	Lores P...Toure A	31735292	2019
2	Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice. ⁵⁶ ⁶	Liu C...Zhang F	31735294	2019
3	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 42

Genes related to Spermatogenic Failure 42 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TTC29	Tetratricopeptide Repeat Domain 29	Protein Coding	908.41	Molecular basis known ⁵⁶ Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	31735294 31735292

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Variations for Spermatogenic Failure 42

ClinVar genetic disease variations for Spermatogenic Failure 42:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	GRCh37 Pos	GRCh38 Pos
1	TTC29	NM_031956.3(TTC29):c.*334G>A	SNV	Pathogenic	805956	4:147627976-147627976	4:146706824-146706824
2	TTC29	NM_031956.3(TTC29):c.330_334del (p.Glu111fs)	deletion	Pathogenic	805957	4:147830244-147830248	4:146909092-146909096
3	TTC29	NM_031956.3(TTC29):c.750C>A (p.Tyr250Ter)	SNV	Pathogenic	805958	4:147795917-147795917	4:146874765-146874765
4	TTC29	NM_031956.3(TTC29):c.1107C>G (p.Tyr369Ter)	SNV	Pathogenic	805959	4:147724832-147724832	4:146803680-146803680
5	TTC29	NM_031956.3(TTC29):c.412_425del (p.Asp138fs)	deletion	Pathogenic	805960	4:147824857-147824870	4:146903705-146903718
6	TTC29	NM_031956.3(TTC29):c.977+1G>T	SNV	Pathogenic	805961	4:147754957-147754957	4:146833805-146833805

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Expression for Spermatogenic Failure 42

Search GEO for disease gene expression data for Spermatogenic Failure 42.

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Pathways for Spermatogenic Failure 42

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GO Terms for Spermatogenic Failure 42

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Sources for Spermatogenic Failure 42

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Spermatogenic Failure 42 (SPGF42)

Aliases & Classifications for Spermatogenic Failure 42

MalaCards integrated aliases for Spermatogenic Failure 42:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Spermatogenic Failure 42

Related Diseases for Spermatogenic Failure 42

Diseases in the Spermatogenic Failure 3 family:

Symptoms & Phenotypes for Spermatogenic Failure 42

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Spermatogenic Failure 42

Genetic Tests for Spermatogenic Failure 42

Anatomical Context for Spermatogenic Failure 42

Publications for Spermatogenic Failure 42

Articles related to Spermatogenic Failure 42:

Genes for Spermatogenic Failure 42

Genes related to Spermatogenic Failure 42 (1 elite genes):

Variations for Spermatogenic Failure 42

ClinVar genetic disease variations for Spermatogenic Failure 42:

Expression for Spermatogenic Failure 42

Pathways for Spermatogenic Failure 42

GO Terms for Spermatogenic Failure 42

Sources for Spermatogenic Failure 42