SPGF10
MCID: SPR082
MIFTS: 19

Spermatogenic Failure 10 (SPGF10)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 10

MalaCards integrated aliases for Spermatogenic Failure 10:

Name: Spermatogenic Failure 10 58 12 76 30 13 6 74
Spermatogenic Failure with Defective Sperm Annulus 58 12 76
Spgf10 58 12 76
Spermatogenic Failure, Type 10 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
spermatogenic failure 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070178
OMIM 58 614822
MeSH 45 D007248
UMLS 74 C3553793

Summaries for Spermatogenic Failure 10

OMIM : 58 Spermatogenic failure-10 is associated with a defective annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. The firm attachment of the annulus to the flagellar membrane suggests that it may supply mechanical support and prevent displacement of the caudal mitochondrial helix (summary by Kuo et al., 2012). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (614822)

MalaCards based summary : Spermatogenic Failure 10, is also known as spermatogenic failure with defective sperm annulus. An important gene associated with Spermatogenic Failure 10 is SEPTIN12 (Septin 12). Related phenotypes are abnormal sperm morphology and infertility

Disease Ontology : 12 A male infertility characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has material basis in mutation in the SEPT12 gene on chromosome 16p13.

UniProtKB/Swiss-Prot : 76 Spermatogenic failure 10: An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. The most prominent feature is a defective sperm annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail.

Symptoms & Phenotypes for Spermatogenic Failure 10

Human phenotypes related to Spermatogenic Failure 10:

33
# Description HPO Frequency HPO Source Accession
1 abnormal sperm morphology 33 occasional (7.5%) HP:0012864
2 infertility 33 HP:0000789

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
infertility
spermatogenic failure
teratozoospermia (in some patients)
asthenoteratozoospermia (in some patients)
oligoasthenozoospermia (in some patients)

Clinical features from OMIM:

614822

Drugs & Therapeutics for Spermatogenic Failure 10

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 10

Genetic Tests for Spermatogenic Failure 10

Genetic tests related to Spermatogenic Failure 10:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 10 30 SEPTIN12

Anatomical Context for Spermatogenic Failure 10

Publications for Spermatogenic Failure 10

Articles related to Spermatogenic Failure 10:

# Title Authors Year
1
SEPT12 mutations cause male infertility with defective sperm annulus. ( 22275165 )
2012
2
SEPTIN12 genetic variants confer susceptibility to teratozoospermia. ( 22479503 )
2012

Variations for Spermatogenic Failure 10

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 10:

76
# Symbol AA change Variation ID SNP ID
1 SEPTIN12 p.Thr89Met VAR_068097 rs199696526
2 SEPTIN12 p.Asp197Asn VAR_068098 rs371195126

ClinVar genetic disease variations for Spermatogenic Failure 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SEPTIN12 NM_144605.4(SEPTIN12): c.474G> A (p.Val158=) single nucleotide variant risk factor GRCh37 Chromosome 16, 4833970: 4833970
2 SEPTIN12 NM_144605.4(SEPTIN12): c.474G> A (p.Val158=) single nucleotide variant risk factor GRCh38 Chromosome 16, 4783969: 4783969
3 SEPTIN12 NM_144605.4(SEPTIN12): c.266C> T (p.Thr89Met) single nucleotide variant risk factor rs199696526 GRCh37 Chromosome 16, 4836007: 4836007
4 SEPTIN12 NM_144605.4(SEPTIN12): c.266C> T (p.Thr89Met) single nucleotide variant risk factor rs199696526 GRCh38 Chromosome 16, 4786006: 4786006
5 SEPTIN12 NM_144605.4(SEPTIN12): c.589G> A (p.Asp197Asn) single nucleotide variant risk factor rs371195126 GRCh37 Chromosome 16, 4833691: 4833691
6 SEPTIN12 NM_144605.4(SEPTIN12): c.589G> A (p.Asp197Asn) single nucleotide variant risk factor rs371195126 GRCh38 Chromosome 16, 4783690: 4783690

Expression for Spermatogenic Failure 10

Search GEO for disease gene expression data for Spermatogenic Failure 10.

Pathways for Spermatogenic Failure 10

GO Terms for Spermatogenic Failure 10

Sources for Spermatogenic Failure 10

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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