SPGF13
MCID: SPR096
MIFTS: 18

Spermatogenic Failure 13 (SPGF13)

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

Aliases & Classifications for Spermatogenic Failure 13

MalaCards integrated aliases for Spermatogenic Failure 13:

Name: Spermatogenic Failure 13 57 12 72 29 6 70
Spgf13 57 12 72
Spermatogenic Failure, Type 13 39

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 1 consanguineous turkish family (last curated june 2014)


HPO:

31
spermatogenic failure 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070182
OMIM® 57 615841
OMIM Phenotypic Series 57 PS258150
SNOMED-CT via HPO 68 258211005 425558002 48188009
UMLS 70 C4014449

Summaries for Spermatogenic Failure 13

Disease Ontology : 12 A male infertility characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has material basis in mutation in the TAF4B gene on chromosome 18q11.

MalaCards based summary : Spermatogenic Failure 13, is also known as spgf13. An important gene associated with Spermatogenic Failure 13 is TAF4B (TATA-Box Binding Protein Associated Factor 4b). Related phenotype is azoospermia.

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 13: A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.

More information from OMIM: 615841 PS258150

Related Diseases for Spermatogenic Failure 13

Symptoms & Phenotypes for Spermatogenic Failure 13

Human phenotypes related to Spermatogenic Failure 13:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
azoospermia
small testicles
oligozoospermia (in some patients)

Endocrine Features:
elevated follicle-stimulating hormone (fsh) level
normal luteinizing hormone level
normal prolactin level
normal testosterone level

Clinical features from OMIM®:

615841 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 13

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 13

Genetic Tests for Spermatogenic Failure 13

Genetic tests related to Spermatogenic Failure 13:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 13 29 TAF4B

Anatomical Context for Spermatogenic Failure 13

Publications for Spermatogenic Failure 13

Articles related to Spermatogenic Failure 13:

# Title Authors PMID Year
1
Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia. 6 57
24431330 2014
2
Disturbed testicular expression of the estrogen-metabolizing enzymes CYP1A1 and COMT in infertile men with primary spermatogenic failure: possible negative implications on Sertoli cells. 61
28334509 2017

Variations for Spermatogenic Failure 13

ClinVar genetic disease variations for Spermatogenic Failure 13:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TAF4B NM_005640.3(TAF4B):c.1831C>T (p.Arg611Ter) SNV Pathogenic 135657 rs587777427 GRCh37: 18:23873494-23873494
GRCh38: 18:26293530-26293530

Expression for Spermatogenic Failure 13

Search GEO for disease gene expression data for Spermatogenic Failure 13.

Pathways for Spermatogenic Failure 13

GO Terms for Spermatogenic Failure 13

Sources for Spermatogenic Failure 13

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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