SPGF23
MCID: SPR125
MIFTS: 15

Spermatogenic Failure 23 (SPGF23)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 23

MalaCards integrated aliases for Spermatogenic Failure 23:

Name: Spermatogenic Failure 23 57 12 75 6
Spgf23 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 family (last curated september 2017)


Classifications:



External Ids:

OMIM 57 617707
Disease Ontology 12 DOID:0070181
MeSH 44 D007248

Summaries for Spermatogenic Failure 23

Disease Ontology : 12 An azoospermia characterized by autosomal recessive inhertitance of nonobstructive azoospermia that has material basis in mutation in the TEX14 gene on chromosome 17q23.

MalaCards based summary : Spermatogenic Failure 23, is also known as spgf23. An important gene associated with Spermatogenic Failure 23 is TEX14 (Testis Expressed 14, Intercellular Bridge Forming Factor). Related phenotypes are azoospermia and infertility

UniProtKB/Swiss-Prot : 75 Spermatogenic failure 23: An infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia.

Description from OMIM: 617707

Symptoms & Phenotypes for Spermatogenic Failure 23

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Male:
infertility
azoospermia, nonobstructive
no metaphase spermatocytes detected


Clinical features from OMIM:

617707

Human phenotypes related to Spermatogenic Failure 23:

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 infertility 32 HP:0000789

Drugs & Therapeutics for Spermatogenic Failure 23

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 23

Genetic Tests for Spermatogenic Failure 23

Anatomical Context for Spermatogenic Failure 23

Publications for Spermatogenic Failure 23

Variations for Spermatogenic Failure 23

ClinVar genetic disease variations for Spermatogenic Failure 23:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TEX14 NM_001201457.1(TEX14): c.2668_2678delAGCCACCGGCA (p.Ser890Glyfs) deletion Pathogenic GRCh38 Chromosome 17, 58587938: 58587948
2 TEX14 NM_001201457.1(TEX14): c.2668_2678delAGCCACCGGCA (p.Ser890Glyfs) deletion Pathogenic GRCh37 Chromosome 17, 56665299: 56665309

Expression for Spermatogenic Failure 23

Search GEO for disease gene expression data for Spermatogenic Failure 23.

Pathways for Spermatogenic Failure 23

GO Terms for Spermatogenic Failure 23

Sources for Spermatogenic Failure 23

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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