MCID: SPR127
MIFTS: 13

Spermatogenic Failure 24

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 24

MalaCards integrated aliases for Spermatogenic Failure 24:

Name: Spermatogenic Failure 24 57 6
Spgf24 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617959

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)

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).

Symptoms & Phenotypes for Spermatogenic Failure 24

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
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 GRCh38 Chromosome 7, 90271959: 90271959
2 CFAP69 NM_001039706.2(CFAP69): c.860+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 7, 89901273: 89901273
3 CFAP69 NM_001039706.2(CFAP69): c.763C> T (p.Gln255Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 90271861: 90271861
4 CFAP69 NM_001039706.2(CFAP69): c.763C> T (p.Gln255Ter) single nucleotide variant Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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