SPGF26
MCID: SPR129
MIFTS: 16

Spermatogenic Failure 26 (SPGF26)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 26

MalaCards integrated aliases for Spermatogenic Failure 26:

Name: Spermatogenic Failure 26 57 75 6
Spgf26 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617961
MedGen 42 CN244573
MeSH 44 D007248
SNOMED-CT via HPO 69 15296000 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)

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

UniProtKB/Swiss-Prot : 75 Spermatogenic failure 26: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in acephalic spermatozoa.

Symptoms & Phenotypes for Spermatogenic Failure 26

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

617961

Human phenotypes related to Spermatogenic Failure 26:

32
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789
2 acephalic spermatozoa 32 HP:0012869

Drugs & Therapeutics for Spermatogenic Failure 26

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 26

Genetic Tests for Spermatogenic Failure 26

Anatomical Context for Spermatogenic Failure 26

Publications for Spermatogenic Failure 26

Variations for Spermatogenic Failure 26

ClinVar genetic disease variations for Spermatogenic Failure 26:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TSGA10 NM_025244.3(TSGA10): c.211del (p.Ala71Hisfs) deletion Pathogenic GRCh38 Chromosome 2, 99105697: 99105697
2 TSGA10 NM_025244.3(TSGA10): c.211del (p.Ala71Hisfs) deletion Pathogenic GRCh37 Chromosome 2, 99722160: 99722160

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 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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