SPGF40
MCID: SPR150
MIFTS: 18

Spermatogenic Failure 40 (SPGF40)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 40

MalaCards integrated aliases for Spermatogenic Failure 40:

Name: Spermatogenic Failure 40 56 6
Spgf40 56

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:



External Ids:

OMIM 56 618664
OMIM Phenotypic Series 56 PS258150

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).

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

Drugs & Therapeutics for Spermatogenic Failure 40

Search Clinical Trials , NIH Clinical Center 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:

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

Variations for Spermatogenic Failure 40

ClinVar genetic disease variations for Spermatogenic Failure 40:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID 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

Expression for Spermatogenic Failure 40

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

Pathways for Spermatogenic Failure 40

GO Terms for Spermatogenic Failure 40

Sources for Spermatogenic Failure 40

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
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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