SPGF52
MCID: SPR164
MIFTS: 15

Spermatogenic Failure 52 (SPGF52)

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

Aliases & Classifications for Spermatogenic Failure 52

MalaCards integrated aliases for Spermatogenic Failure 52:

Name: Spermatogenic Failure 52 57 12 6
Spgf52 57 12

Characteristics:

OMIM®:

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

Miscellaneous:
affected females have premature ovarian failure (see pof18, )


Classifications:



External Ids:

Disease Ontology 12 DOID:0112270
OMIM® 57 619202
OMIM Phenotypic Series 57 PS258150

Summaries for Spermatogenic Failure 52

OMIM® : 57 Spermatogenic failure-52 (SPGF52) is characterized by azoospermic infertility resulting from meiotic arrest at the spermatocyte stage (Fan et al., 2021). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (619202) (Updated 05-Apr-2021)

MalaCards based summary : Spermatogenic Failure 52, is also known as spgf52. An important gene associated with Spermatogenic Failure 52 is C14orf39 (Chromosome 14 Open Reading Frame 39).

Disease Ontology : 12 An azoospermia characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has material basis in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1.

Related Diseases for Spermatogenic Failure 52

Symptoms & Phenotypes for Spermatogenic Failure 52

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
azoospermia
infertility
meiotic arrest at spermatocyte stage

Clinical features from OMIM®:

619202 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 52

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 52

Genetic Tests for Spermatogenic Failure 52

Anatomical Context for Spermatogenic Failure 52

Publications for Spermatogenic Failure 52

Articles related to Spermatogenic Failure 52:

# Title Authors PMID Year
1
Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans. 6 57
33508233 2021

Variations for Spermatogenic Failure 52

ClinVar genetic disease variations for Spermatogenic Failure 52:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C14orf39 NM_174978.3(C14orf39):c.204_205del (p.His68fs) Deletion Pathogenic 992822 GRCh37: 14:60950437-60950438
GRCh38: 14:60483719-60483720
2 C14orf39 NM_174978.3(C14orf39):c.958G>T (p.Glu320Ter) SNV Pathogenic 992823 GRCh37: 14:60932711-60932711
GRCh38: 14:60465993-60465993
3 C14orf39 NM_174978.3(C14orf39):c.1180-3C>G SNV Pathogenic 992824 GRCh37: 14:60923816-60923816
GRCh38: 14:60457098-60457098

Expression for Spermatogenic Failure 52

Search GEO for disease gene expression data for Spermatogenic Failure 52.

Pathways for Spermatogenic Failure 52

GO Terms for Spermatogenic Failure 52

Sources for Spermatogenic Failure 52

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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