SPGF40
MCID: SPR150
MIFTS: 21

Spermatogenic Failure 40 (SPGF40)

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

Aliases & Classifications for Spermatogenic Failure 40

MalaCards integrated aliases for Spermatogenic Failure 40:

Name: Spermatogenic Failure 40 57 12 73 6
Spgf40 57 12 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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


HPO:

31
spermatogenic failure 40:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111918
OMIM® 57 618664
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 258211005 2904007

Summaries for Spermatogenic Failure 40

OMIM® : 57 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., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618664) (Updated 05-Mar-2021)

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). Related phenotypes are male infertility and oligospermia

Disease Ontology : 12 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has material basis in homozygous or compound heterozygous mutation in CFAP65 on chromosome 2q35.

UniProtKB/Swiss-Prot : 73 Spermatogenic failure 40: An autosomal recessive infertility disorder characterized by severely reduced or absent sperm motility, due to multiple morphologic anomalies such as absent, short, bent, coiled and irregular-caliber tails. Patient spermatozoa may also show morphologic defects of the sperm head.

Related Diseases for Spermatogenic Failure 40

Symptoms & Phenotypes for Spermatogenic Failure 40

Human phenotypes related to Spermatogenic Failure 40:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 male infertility 31 very rare (1%) HP:0003251
2 oligospermia 31 very rare (1%) HP:0000798
3 immotile sperm 31 very rare (1%) HP:0012208
4 absent sperm flagella 31 HP:0032558
5 short sperm flagella 31 HP:0032559
6 coiled sperm flagella 31 HP:0032560

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary Internal Genitalia Male:
infertility
immotile sperm
coiled flagella
irregular-caliber flagella
no progressive motility
more

Clinical features from OMIM®:

618664 (Updated 05-Mar-2021)

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
Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice. 57 6
31501240 2020
2
A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella. 6 57
31571197 2019
3
Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations. 57 6
31413122 2019
4
Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. 57 6
28552195 2017
5
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. 57
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.2284C>T (p.Arg762Ter) SNV Pathogenic 694535 rs756973049 2:219890809-219890809 2:219026087-219026087
2 CFAP65 NM_194302.4(CFAP65):c.1580del (p.Leu527fs) Deletion Pathogenic 694536 rs1574628422 2:219894195-219894195 2:219029473-219029473
3 CFAP65 NM_194302.4(CFAP65):c.2675G>A (p.Trp892Ter) SNV Pathogenic 694583 rs1457312523 2:219888074-219888074 2:219023352-219023352
4 CFAP65 NM_194302.4(CFAP65):c.5341G>T (p.Glu1781Ter) SNV Pathogenic 694534 rs1269179049 2:219868888-219868888 2:219004166-219004166

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
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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