SPGF24
MCID: SPR127
MIFTS: 17

Spermatogenic Failure 24 (SPGF24)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 24

MalaCards integrated aliases for Spermatogenic Failure 24:

Name: Spermatogenic Failure 24 58 76 6
Spgf24 58 76
Spermatogenic Failure, Type 24 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 58 617959
MeSH 45 D007248

Summaries for Spermatogenic Failure 24

OMIM : 58 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)

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).

UniProtKB/Swiss-Prot : 76 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.

Symptoms & Phenotypes for Spermatogenic Failure 24

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
oligozoospermia
low sperm motility
low sperm vitality
absent flagella
short flagella
more

Clinical features from OMIM:

617959

Drugs & Therapeutics for Spermatogenic Failure 24

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 24

Genetic Tests for Spermatogenic Failure 24

Anatomical Context for Spermatogenic Failure 24

Publications for Spermatogenic Failure 24

Variations for Spermatogenic Failure 24

ClinVar genetic disease variations for Spermatogenic Failure 24:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CFAP69 NM_001039706.2(CFAP69): c.860+1G> A single nucleotide variant Pathogenic rs1554359685 GRCh38 Chromosome 7, 90271959: 90271959
2 CFAP69 NM_001039706.2(CFAP69): c.860+1G> A single nucleotide variant Pathogenic rs1554359685 GRCh37 Chromosome 7, 89901273: 89901273
3 CFAP69 NM_001039706.2(CFAP69): c.763C> T (p.Gln255Ter) single nucleotide variant Pathogenic rs1554359569 GRCh38 Chromosome 7, 90271861: 90271861
4 CFAP69 NM_001039706.2(CFAP69): c.763C> T (p.Gln255Ter) single nucleotide variant Pathogenic rs1554359569 GRCh37 Chromosome 7, 89901175: 89901175

Expression for Spermatogenic Failure 24

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

Pathways for Spermatogenic Failure 24

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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