MCID: SPR096
MIFTS: 16

Spermatogenic Failure 13

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 13

MalaCards integrated aliases for Spermatogenic Failure 13:

Name: Spermatogenic Failure 13 57 75 6 73
Spgf13 57 75
Spermatogenic Failure, Type 13 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spermatogenic failure 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615841
SNOMED-CT via HPO 69 258211005 425558002 48188009
UMLS 73 C4014449

Summaries for Spermatogenic Failure 13

UniProtKB/Swiss-Prot : 75 Spermatogenic failure 13: A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.

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.

Description from OMIM: 615841

Symptoms & Phenotypes for Spermatogenic Failure 13

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
small testicles
azoospermia
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

Human phenotypes related to Spermatogenic Failure 13:

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

Drugs & Therapeutics for Spermatogenic Failure 13

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 13

Genetic Tests for Spermatogenic Failure 13

Anatomical Context for Spermatogenic Failure 13

Publications for Spermatogenic Failure 13

Variations for Spermatogenic Failure 13

ClinVar genetic disease variations for Spermatogenic Failure 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TAF4B NM_005640.2(TAF4B): c.1831C> T (p.Arg611Ter) single nucleotide variant Pathogenic rs587777427 GRCh38 Chromosome 18, 26293530: 26293530
2 TAF4B NM_005640.2(TAF4B): c.1831C> T (p.Arg611Ter) single nucleotide variant Pathogenic rs587777427 GRCh37 Chromosome 18, 23873494: 23873494

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 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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