SPGF43
MCID: SPR153
MIFTS: 14

Spermatogenic Failure 43 (SPGF43)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 43

MalaCards integrated aliases for Spermatogenic Failure 43:

Name: Spermatogenic Failure 43 56 6
Spgf43 56

Classifications:



External Ids:

OMIM 56 618751
OMIM Phenotypic Series 56 PS258150

Summaries for Spermatogenic Failure 43

OMIM : 56 Spermatogenic failure-43 (SPGF43) is characterized by infertility and spermatozoa lacking progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Most flagella lack the central pair (9+0 configuration) on ultrastructural analysis (Liu et al., 2019; Sha et al., 2019; Liu et al., 2020). (618751)

MalaCards based summary : Spermatogenic Failure 43, is also known as spgf43. An important gene associated with Spermatogenic Failure 43 is SPEF2 (Sperm Flagellar 2).

Symptoms & Phenotypes for Spermatogenic Failure 43

Clinical features from OMIM:

618751

Drugs & Therapeutics for Spermatogenic Failure 43

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 43

Genetic Tests for Spermatogenic Failure 43

Anatomical Context for Spermatogenic Failure 43

Publications for Spermatogenic Failure 43

Articles related to Spermatogenic Failure 43:

# Title Authors PMID Year
1
Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility. 56 6
31048344 2020
2
Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype. 56 6
31278745 2019
3
Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF). 56 6
31151990 2019
4
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. 56
29449551 2018

Variations for Spermatogenic Failure 43

ClinVar genetic disease variations for Spermatogenic Failure 43:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPEF2 NM_024867.4(SPEF2):c.13del (p.Leu5fs)deletion Pathogenic 805986 5:35618111-35618111 5:35618009-35618009
2 SPEF2 NM_024867.4(SPEF2):c.1745-2A>GSNV Pathogenic 805987 5:35692670-35692670 5:35692568-35692568
3 SPEF2 NM_024867.4(SPEF2):c.4102G>T (p.Glu1368Ter)SNV Pathogenic 805988 5:35776382-35776382 5:35776280-35776280
4 SPEF2 NM_024867.4(SPEF2):c.4326dup (p.Val1443fs)duplication Pathogenic 805989 5:35779323-35779324 5:35779221-35779222
5 SPEF2 NM_024867.4(SPEF2):c.2735del (p.Pro912fs)deletion Pathogenic 805990 5:35709118-35709118 5:35709016-35709016
6 SPEF2 NM_024867.4(SPEF2):c.4952del (p.Val1651fs)deletion Pathogenic 805991 5:35800191-35800191 5:35800089-35800089
7 SPEF2 NM_024867.4(SPEF2):c.3240del (p.Phe1080fs)deletion Pathogenic 805992 5:35740276-35740276 5:35740174-35740174

Expression for Spermatogenic Failure 43

Search GEO for disease gene expression data for Spermatogenic Failure 43.

Pathways for Spermatogenic Failure 43

GO Terms for Spermatogenic Failure 43

Sources for Spermatogenic Failure 43

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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