SPGF23
MCID: SPR125
MIFTS: 18

Spermatogenic Failure 23 (SPGF23)

Categories: Gastrointestinal diseases, 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 72 29 6
Spgf23 57 12 72

Characteristics:

OMIM®:

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


HPO:

31
spermatogenic failure 23:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070181
OMIM® 57 617707
OMIM Phenotypic Series 57 PS258150
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 : 72 Spermatogenic failure 23: An infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia.

More information from OMIM: 617707 PS258150

Related Diseases for Spermatogenic Failure 23

Symptoms & Phenotypes for Spermatogenic Failure 23

Human phenotypes related to Spermatogenic Failure 23:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027
2 infertility 31 HP:0000789

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
infertility
azoospermia, nonobstructive
maturation arrest seen on testicular biopsy
no metaphase spermatocytes detected

Clinical features from OMIM®:

617707 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 23

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 23

Genetic Tests for Spermatogenic Failure 23

Genetic tests related to Spermatogenic Failure 23:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 23 29 TEX14

Anatomical Context for Spermatogenic Failure 23

Publications for Spermatogenic Failure 23

Articles related to Spermatogenic Failure 23:

# Title Authors PMID Year
1
Point-of-care whole-exome sequencing of idiopathic male infertility. 57 6
29790874 2018
2
A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes. 57 6
28206990 2017

Variations for Spermatogenic Failure 23

ClinVar genetic disease variations for Spermatogenic Failure 23:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TEX14 NM_031272.4(TEX14):c.2650_2660del (p.Ser884fs) Deletion Pathogenic 440758 rs1555568575 GRCh37: 17:56665299-56665309
GRCh38: 17:58587938-58587948
2 TEX14 NM_031272.4(TEX14):c.254G>T (p.Arg85Leu) SNV Pathogenic 635288 rs761592042 GRCh37: 17:56700371-56700371
GRCh38: 17:58623010-58623010

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 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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