SPGF43
MCID: SPR153
MIFTS: 21

Spermatogenic Failure 43 (SPGF43)

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

Aliases & Classifications for Spermatogenic Failure 43

MalaCards integrated aliases for Spermatogenic Failure 43:

Name: Spermatogenic Failure 43 57 12 73 29 6
Spgf43 57 12 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
spermatogenic failure 43:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111917
OMIM® 57 618751
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 258211005 2904007

Summaries for Spermatogenic Failure 43

OMIM® : 57 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). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618751) (Updated 05-Mar-2021)

MalaCards based summary : Spermatogenic Failure 43, is also known as spgf43. An important gene associated with Spermatogenic Failure 43 is SPEF2 (Sperm Flagellar 2). Related phenotypes are male infertility and reduced sperm motility

Disease Ontology : 12 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in ansence of forward motility in spermatozoa and infertility that has material basis in homozygous or compound heterozygous mutation in SPEF2 on chromosome 5p13.2.

UniProtKB/Swiss-Prot : 73 Spermatogenic failure 43: An autosomal recessive infertility disorder characterized by asthenospermia due to multiple morphologic abnormalities of sperm flagella, including short, absent, coiled, and bent flagella.

Related Diseases for Spermatogenic Failure 43

Symptoms & Phenotypes for Spermatogenic Failure 43

Human phenotypes related to Spermatogenic Failure 43:

31
# Description HPO Frequency HPO Source Accession
1 male infertility 31 HP:0003251
2 reduced sperm motility 31 HP:0012207
3 absent sperm flagella 31 HP:0032558
4 coiled sperm flagella 31 HP:0032560

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary Internal Genitalia Male:
infertility
coiled sperm flagella
bent sperm flagella
low sperm count (in some patients)
no progressive sperm motility
more

Clinical features from OMIM®:

618751 (Updated 05-Mar-2021)

Drugs & Therapeutics for Spermatogenic Failure 43

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 43

Genetic Tests for Spermatogenic Failure 43

Genetic tests related to Spermatogenic Failure 43:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 43 29 SPEF2

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. 6 57
31048344 2020
2
Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype. 6 57
31278745 2019
3
Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF). 6 57
31151990 2019
4
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. 57
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 rs1391102782 5:35618111-35618111 5:35618009-35618009
2 SPEF2 NM_024867.4(SPEF2):c.1745-2A>G SNV Pathogenic 805987 rs1375975527 5:35692670-35692670 5:35692568-35692568
3 SPEF2 NM_024867.4(SPEF2):c.4102G>T (p.Glu1368Ter) SNV Pathogenic 805988 rs1230916222 5:35776382-35776382 5:35776280-35776280
4 SPEF2 NM_024867.4(SPEF2):c.4326dup (p.Val1443fs) Duplication Pathogenic 805989 rs1580704451 5:35779323-35779324 5:35779221-35779222
5 SPEF2 NM_024867.4(SPEF2):c.2735del (p.Pro912fs) Deletion Pathogenic 805990 rs1580383744 5:35709118-35709118 5:35709016-35709016
6 SPEF2 NM_024867.4(SPEF2):c.4952del (p.Val1651fs) Deletion Pathogenic 805991 rs1580783651 5:35800191-35800191 5:35800089-35800089
7 SPEF2 NM_024867.4(SPEF2):c.3240del (p.Phe1080fs) Deletion Pathogenic 805992 rs1580529760 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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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