SPGF36
MCID: SPR141
MIFTS: 13

Spermatogenic Failure 36 (SPGF36)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 36

MalaCards integrated aliases for Spermatogenic Failure 36:

Name: Spermatogenic Failure 36 58 6
Spgf36 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 3 unrelated turkish men (last curated may 2019)


Classifications:



External Ids:

OMIM 58 618420

Summaries for Spermatogenic Failure 36

OMIM : 58 Spermatogenic failure-36 (SPGF36) is characterized by reduced fertility due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus (Guran et al., 2019). For a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618420)

MalaCards based summary : Spermatogenic Failure 36, is also known as spgf36. An important gene associated with Spermatogenic Failure 36 is PPP2R3C (Protein Phosphatase 2 Regulatory Subunit B''Gamma).

Symptoms & Phenotypes for Spermatogenic Failure 36

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
infertility or reduced fertility
teratozoospermia
anomalies of head of sperm, mild to severe
severe acrosomal anomalies
severe nuclear anomalies

Clinical features from OMIM:

618420

Drugs & Therapeutics for Spermatogenic Failure 36

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 36

Genetic Tests for Spermatogenic Failure 36

Anatomical Context for Spermatogenic Failure 36

Publications for Spermatogenic Failure 36

Variations for Spermatogenic Failure 36

ClinVar genetic disease variations for Spermatogenic Failure 36:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PPP2R3C NM_017917.3(PPP2R3C): c.1049T> C (p.Phe350Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 35091134: 35091134
2 PPP2R3C NM_017917.3(PPP2R3C): c.1049T> C (p.Phe350Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 35560340: 35560340
3 PPP2R3C NM_017917.3(PPP2R3C): c.578T> C (p.Leu193Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 35568586: 35568586
4 PPP2R3C NM_017917.3(PPP2R3C): c.578T> C (p.Leu193Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 35099380: 35099380
5 PPP2R3C NM_017917.3(PPP2R3C): c.308T> C (p.Leu103Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 35579121: 35579121
6 PPP2R3C NM_017917.3(PPP2R3C): c.308T> C (p.Leu103Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 35109915: 35109915

Expression for Spermatogenic Failure 36

Search GEO for disease gene expression data for Spermatogenic Failure 36.

Pathways for Spermatogenic Failure 36

GO Terms for Spermatogenic Failure 36

Sources for Spermatogenic Failure 36

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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