SPGF26
MCID: SPR129
MIFTS: 17

Spermatogenic Failure 26 (SPGF26)

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

Aliases & Classifications for Spermatogenic Failure 26

MalaCards integrated aliases for Spermatogenic Failure 26:

Name: Spermatogenic Failure 26 57 12 72 29 6
Spgf26 57 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient (last curated may 2018)


HPO:

31
spermatogenic failure 26:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111924
OMIM® 57 617961
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 15296000 258211005 8619003

Summaries for Spermatogenic Failure 26

OMIM® : 57 Spermatogenic failure-26 is characterized by acephalic spermatozoa, due to breakage that occurs in the midpiece of the sperm (Sha et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (617961) (Updated 05-Apr-2021)

MalaCards based summary : Spermatogenic Failure 26, is also known as spgf26. An important gene associated with Spermatogenic Failure 26 is TSGA10 (Testis Specific 10). Related phenotypes are infertility and acephalic spermatozoa

Disease Ontology : 12 A spermatogenic failure characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has material basis in homozygous or compound heterozygous mutation in TSGA10 on chromosome 2q11.2.

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 26: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in acephalic spermatozoa.

Related Diseases for Spermatogenic Failure 26

Symptoms & Phenotypes for Spermatogenic Failure 26

Human phenotypes related to Spermatogenic Failure 26:

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789
2 acephalic spermatozoa 31 HP:0012869

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
infertility
acephalic spermatozoa
low sperm motility
breakage in midpiece of sperm
microcephalic spermatozoa (rare)
more

Clinical features from OMIM®:

617961 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 26

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 26

Genetic Tests for Spermatogenic Failure 26

Genetic tests related to Spermatogenic Failure 26:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 26 29 TSGA10

Anatomical Context for Spermatogenic Failure 26

Publications for Spermatogenic Failure 26

Articles related to Spermatogenic Failure 26:

# Title Authors PMID Year
1
TSGA10 is a novel candidate gene associated with acephalic spermatozoa. 57 6
28905369 2018

Variations for Spermatogenic Failure 26

ClinVar genetic disease variations for Spermatogenic Failure 26:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSGA10 NM_025244.4(TSGA10):c.211del (p.Ala71Hisfs) Deletion Pathogenic 523232 rs1553482689 GRCh37: 2:99722160-99722160
GRCh38: 2:99105697-99105697

Expression for Spermatogenic Failure 26

Search GEO for disease gene expression data for Spermatogenic Failure 26.

Pathways for Spermatogenic Failure 26

GO Terms for Spermatogenic Failure 26

Sources for Spermatogenic Failure 26

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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