MCID: SPR086
MIFTS: 21

Spermatogenic Failure 3

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 3

MalaCards integrated aliases for Spermatogenic Failure 3:

Name: Spermatogenic Failure 3 57 75 29 13 6
Spgf3 57 75
Spermatogenic Failure, Type 3 40
Azoospermia, Nonobstructive 73
Asthenozoospermia 44

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
spermatogenic failure 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 606766
MedGen 42 C1847540
MeSH 44 D053627
SNOMED-CT via HPO 69 263681008
UMLS 73 C1847540

Summaries for Spermatogenic Failure 3

UniProtKB/Swiss-Prot : 75 Spermatogenic failure 3: A disorder characterized by primary infertility, sperm morphologic abnormalities, and moderate to severe asthenozoospermia, condition in which the percentage of progressively motile sperm is abnormally low.

MalaCards based summary : Spermatogenic Failure 3, also known as spgf3, is related to spermatogenic failure 11 and non-syndromic male infertility due to sperm motility disorder. An important gene associated with Spermatogenic Failure 3 is SLC26A8 (Solute Carrier Family 26 Member 8).

OMIM : 57 In spermatogenic failure-3, primary infertility is associated with nonobstructive asthenozoospermia (Dirami et al., 2013). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (606766)

Related Diseases for Spermatogenic Failure 3

Graphical network of the top 20 diseases related to Spermatogenic Failure 3:



Diseases related to Spermatogenic Failure 3

Symptoms & Phenotypes for Spermatogenic Failure 3

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
infertility due to asthenozoospermia
flagellar defects
spermatozoa with coiled tails (in some patients)
abnormally shaped posterior part of sperm head (in some patients)
low sperm counts (in some patients)


Clinical features from OMIM:

606766

Drugs & Therapeutics for Spermatogenic Failure 3

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 3

Cochrane evidence based reviews: asthenozoospermia

Genetic Tests for Spermatogenic Failure 3

Genetic tests related to Spermatogenic Failure 3:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 3 29 SLC26A8

Anatomical Context for Spermatogenic Failure 3

Publications for Spermatogenic Failure 3

Variations for Spermatogenic Failure 3

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 3:

75
# Symbol AA change Variation ID SNP ID
1 SLC26A8 p.Arg87Gln VAR_070058 rs140210148
2 SLC26A8 p.Glu812Lys VAR_070059 rs142724470
3 SLC26A8 p.Arg954Cys VAR_070060 rs398123027

ClinVar genetic disease variations for Spermatogenic Failure 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A8 NM_052961.3(SLC26A8): c.260G> A (p.Arg87Gln) single nucleotide variant Pathogenic rs140210148 GRCh37 Chromosome 6, 35980078: 35980078
2 SLC26A8 NM_052961.3(SLC26A8): c.260G> A (p.Arg87Gln) single nucleotide variant Pathogenic rs140210148 GRCh38 Chromosome 6, 36012301: 36012301
3 SLC26A8 NM_052961.3(SLC26A8): c.2434G> A (p.Glu812Lys) single nucleotide variant Pathogenic rs142724470 GRCh37 Chromosome 6, 35918978: 35918978
4 SLC26A8 NM_052961.3(SLC26A8): c.2434G> A (p.Glu812Lys) single nucleotide variant Pathogenic rs142724470 GRCh38 Chromosome 6, 35951201: 35951201
5 SLC26A8 NM_052961.3(SLC26A8): c.2860C> T (p.Arg954Cys) single nucleotide variant Pathogenic rs398123027 GRCh37 Chromosome 6, 35911730: 35911730
6 SLC26A8 NM_052961.3(SLC26A8): c.2860C> T (p.Arg954Cys) single nucleotide variant Pathogenic rs398123027 GRCh38 Chromosome 6, 35943953: 35943953

Copy number variations for Spermatogenic Failure 3 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 266848 Y 11300000 57772954 Microdeletion Asthenozoospermia

Expression for Spermatogenic Failure 3

Search GEO for disease gene expression data for Spermatogenic Failure 3.

Pathways for Spermatogenic Failure 3

GO Terms for Spermatogenic Failure 3

Sources for Spermatogenic Failure 3

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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