MCID: SPR082
MIFTS: 17

Spermatogenic Failure 10

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 10

MalaCards integrated aliases for Spermatogenic Failure 10:

Name: Spermatogenic Failure 10 57 75 29 13 6 73
Spermatogenic Failure with Defective Sperm Annulus 57 75
Spgf10 57 75
Spermatogenic Failure, Type 10 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
spermatogenic failure 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614822
MeSH 44 D007248
UMLS 73 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)

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 SEPT12 (Septin 12). Related phenotypes are infertility and abnormal sperm morphology

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
infertility
spermatogenic failure
teratozoospermia (in some patients)
asthenoteratozoospermia (in some patients)
oligoasthenozoospermia (in some patients)


Clinical features from OMIM:

614822

Human phenotypes related to Spermatogenic Failure 10:

32
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789
2 abnormal sperm morphology 32 occasional (7.5%) HP:0012864

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 SEPT12

Anatomical Context for Spermatogenic Failure 10

Publications for Spermatogenic Failure 10

Variations for Spermatogenic Failure 10

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

75
# Symbol AA change Variation ID SNP ID
1 SEPT12 p.Thr89Met VAR_068097 rs199696526
2 SEPT12 p.Asp197Asn VAR_068098 rs371195126

ClinVar genetic disease variations for Spermatogenic Failure 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SEPT12 SEPT12, 474G-A single nucleotide variant risk factor
2 SEPT12 NM_144605.4(SEPT12): c.266C> T (p.Thr89Met) single nucleotide variant risk factor rs199696526 GRCh37 Chromosome 16, 4836007: 4836007
3 SEPT12 NM_144605.4(SEPT12): c.266C> T (p.Thr89Met) single nucleotide variant risk factor rs199696526 GRCh38 Chromosome 16, 4786006: 4786006
4 SEPT12 NM_144605.4(SEPT12): c.589G> A (p.Asp197Asn) single nucleotide variant risk factor rs371195126 GRCh37 Chromosome 16, 4833691: 4833691
5 SEPT12 NM_144605.4(SEPT12): 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 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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