SPGF53
MCID: SPR167
MIFTS: 12

Spermatogenic Failure 53 (SPGF53)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 53

MalaCards integrated aliases for Spermatogenic Failure 53:

Name: Spermatogenic Failure 53 57 6
Spgf53 57

Classifications:



External Ids:

OMIM® 57 619258
OMIM Phenotypic Series 57 PS258150

Summaries for Spermatogenic Failure 53

OMIM® : 57 Spermatogenic failure-53 (SPGF53) is characterized by oocyte fertilization failure due to lack of oocyte activation, associated with ultrastructural abnormalities of the sperm head (Dai et al., 2021). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (619258) (Updated 20-May-2021)

MalaCards based summary : Spermatogenic Failure 53, is also known as spgf53. An important gene associated with Spermatogenic Failure 53 is ACTL9 (Actin Like 9).

Related Diseases for Spermatogenic Failure 53

Symptoms & Phenotypes for Spermatogenic Failure 53

Clinical features from OMIM®:

619258 (Updated 20-May-2021)

Drugs & Therapeutics for Spermatogenic Failure 53

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 53

Genetic Tests for Spermatogenic Failure 53

Anatomical Context for Spermatogenic Failure 53

Publications for Spermatogenic Failure 53

Articles related to Spermatogenic Failure 53:

# Title Authors PMID Year
1
Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice. 6 57
33626338 2021

Variations for Spermatogenic Failure 53

ClinVar genetic disease variations for Spermatogenic Failure 53:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTL9 NM_178525.5(ACTL9):c.1034C>T (p.Ser345Leu) SNV Pathogenic 1048625 GRCh37: 19:8808018-8808018
GRCh38: 19:8697668-8697668
2 ACTL9 NM_178525.5(ACTL9):c.1138G>T (p.Val380Leu) SNV Pathogenic 1048626 GRCh37: 19:8807914-8807914
GRCh38: 19:8697564-8697564
3 ACTL9 NM_178525.5(ACTL9):c.1209C>G (p.Tyr403Ter) SNV Pathogenic 1048627 GRCh37: 19:8807843-8807843
GRCh38: 19:8697493-8697493

Expression for Spermatogenic Failure 53

Search GEO for disease gene expression data for Spermatogenic Failure 53.

Pathways for Spermatogenic Failure 53

GO Terms for Spermatogenic Failure 53

Sources for Spermatogenic Failure 53

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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