SPGF10
MCID: SPR082
MIFTS: 20

Spermatogenic Failure 10 (SPGF10)

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

Aliases & Classifications for Spermatogenic Failure 10

MalaCards integrated aliases for Spermatogenic Failure 10:

Name: Spermatogenic Failure 10 57 12 72 29 13 6 70
Spermatogenic Failure with Defective Sperm Annulus 57 12 72
Spgf10 57 12 72
Spermatogenic Failure, Type 10 39

Characteristics:

OMIM®:

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


HPO:

31
spermatogenic failure 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070178
OMIM® 57 614822
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
UMLS 70 C3553793

Summaries for Spermatogenic Failure 10

OMIM® : 57 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) (Updated 20-May-2021)

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 : 72 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.

Related Diseases for Spermatogenic Failure 10

Symptoms & Phenotypes for Spermatogenic Failure 10

Human phenotypes related to Spermatogenic Failure 10:

31
# Description HPO Frequency HPO Source Accession
1 abnormal sperm morphology 31 occasional (7.5%) HP:0012864
2 infertility 31 HP:0000789

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
infertility
spermatogenic failure
teratozoospermia (in some patients)
asthenoteratozoospermia (in some patients)
oligoasthenozoospermia (in some patients)

Clinical features from OMIM®:

614822 (Updated 20-May-2021)

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 29 SEPTIN12

Anatomical Context for Spermatogenic Failure 10

Publications for Spermatogenic Failure 10

Articles related to Spermatogenic Failure 10:

# Title Authors PMID Year
1
SEPT12 mutations cause male infertility with defective sperm annulus. 57 6
22275165 2012
2
SEPTIN12 genetic variants confer susceptibility to teratozoospermia. 6 57
22479503 2012

Variations for Spermatogenic Failure 10

ClinVar genetic disease variations for Spermatogenic Failure 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SEPTIN12 NM_144605.5(SEPTIN12):c.610C>T (p.Arg204Ter) SNV Pathogenic 1032445 GRCh37: 16:4833670-4833670
GRCh38: 16:4783669-4783669
2 SEPTIN12 NM_144605.5(SEPTIN12):c.474G>A (p.Val158=) SNV risk factor 37113 rs759991 GRCh37: 16:4833970-4833970
GRCh38: 16:4783969-4783969
3 SEPTIN12 NM_144605.5(SEPTIN12):c.266C>T (p.Thr89Met) SNV risk factor 37114 rs199696526 GRCh37: 16:4836007-4836007
GRCh38: 16:4786006-4786006
4 SEPTIN12 NM_144605.5(SEPTIN12):c.589G>A (p.Asp197Asn) SNV risk factor 37115 rs371195126 GRCh37: 16:4833691-4833691
GRCh38: 16:4783690-4783690

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

72
# Symbol AA change Variation ID SNP ID
1 SEPTIN12 p.Thr89Met VAR_068097 rs199696526
2 SEPTIN12 p.Asp197Asn VAR_068098 rs371195126

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
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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