SPGF24
MCID: SPR127
MIFTS: 23

Spermatogenic Failure 24 (SPGF24)

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

Aliases & Classifications for Spermatogenic Failure 24

MalaCards integrated aliases for Spermatogenic Failure 24:

Name: Spermatogenic Failure 24 57 12 72 29 6 15
Spgf24 57 12 72
Spermatogenic Failure, Type 24 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 unrelated patients (last curated may 2018)


HPO:

31
spermatogenic failure 24:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111929
OMIM® 57 617959
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 258211005

Summaries for Spermatogenic Failure 24

OMIM® : 57 Spermatogenic failure-24 is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella. Malformations of the sperm head have also been observed. In addition, patients exhibit very low sperm concentrations and total sperm counts per ejaculate (Dong et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (617959) (Updated 20-May-2021)

MalaCards based summary : Spermatogenic Failure 24, is also known as spgf24. An important gene associated with Spermatogenic Failure 24 is CFAP69 (Cilia And Flagella Associated Protein 69), and among its related pathways/superpathways is Eicosanoid ligand-binding receptors. Related phenotypes are reduced sperm motility and short sperm flagella

Disease Ontology : 12 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has material basis in homozygous or compound heterozygous mutation in CFAP69 on chromosome 7q21.13.

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 24: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella. Malformations of the sperm head have also been observed. In addition, patients exhibit very low sperm concentrations and total sperm counts per ejaculate.

Related Diseases for Spermatogenic Failure 24

Symptoms & Phenotypes for Spermatogenic Failure 24

Human phenotypes related to Spermatogenic Failure 24:

31
# Description HPO Frequency HPO Source Accession
1 reduced sperm motility 31 very rare (1%) HP:0012207
2 short sperm flagella 31 HP:0032559
3 coiled sperm flagella 31 HP:0032560
4 microcephalic sperm head 31 HP:0032561
5 tapered sperm head 31 HP:0032562

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
microcephalic sperm head
tapered sperm head
oligozoospermia
absent flagella
short flagella
more

Clinical features from OMIM®:

617959 (Updated 20-May-2021)

Drugs & Therapeutics for Spermatogenic Failure 24

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 24

Genetic Tests for Spermatogenic Failure 24

Genetic tests related to Spermatogenic Failure 24:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 24 29 CFAP69

Anatomical Context for Spermatogenic Failure 24

Publications for Spermatogenic Failure 24

Articles related to Spermatogenic Failure 24:

# Title Authors PMID Year
1
Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella. 57 6
30415212 2019
2
Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse. 6 57
29606301 2018

Variations for Spermatogenic Failure 24

ClinVar genetic disease variations for Spermatogenic Failure 24:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFAP69 NM_001039706.3(CFAP69):c.860+1G>A SNV Pathogenic 523226 rs1554359685 GRCh37: 7:89901273-89901273
GRCh38: 7:90271959-90271959
2 CFAP69 NM_001039706.3(CFAP69):c.763C>T (p.Gln255Ter) SNV Pathogenic 523227 rs1554359569 GRCh37: 7:89901175-89901175
GRCh38: 7:90271861-90271861
3 CFAP69 NM_001039706.3(CFAP69):c.1069_1070insAC (p.Leu357fs) Insertion Pathogenic 626908 rs764048407 GRCh37: 7:89906561-89906562
GRCh38: 7:90277247-90277248
4 CFAP69 NM_001039706.3(CFAP69):c.647G>A (p.Trp216Ter) SNV Pathogenic 626909 rs1355278372 GRCh37: 7:89900954-89900954
GRCh38: 7:90271640-90271640
5 CFAP69 NM_001039706.3(CFAP69):c.2755C>T (p.Arg919Ter) SNV Pathogenic 998191 GRCh37: 7:89939481-89939481
GRCh38: 7:90310167-90310167

Expression for Spermatogenic Failure 24

Search GEO for disease gene expression data for Spermatogenic Failure 24.

Pathways for Spermatogenic Failure 24

Pathways related to Spermatogenic Failure 24 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.3 PTGDR MTNR1B

GO Terms for Spermatogenic Failure 24

Sources for Spermatogenic Failure 24

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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