SPGF36
MCID: SPR141
MIFTS: 20

Spermatogenic Failure 36 (SPGF36)

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

Aliases & Classifications for Spermatogenic Failure 36

MalaCards integrated aliases for Spermatogenic Failure 36:

Name: Spermatogenic Failure 36 57 12 72 29 6
Spgf36 57 12 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
spermatogenic failure 36:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111921
OMIM® 57 618420
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 236817003 263681008 2904007

Summaries for Spermatogenic Failure 36

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Spermatogenic Failure 36, also known as spgf36, is related to gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy and gonadal dysgenesis. An important gene associated with Spermatogenic Failure 36 is PPP2R3C (Protein Phosphatase 2 Regulatory Subunit B''Gamma). Related phenotypes are male infertility and abnormal sperm morphology

Disease Ontology : 12 A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has material basis in heterozygous mutation in PPP2R3C on chromosome 14q13.2.

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 36: An autosomal dominant infertility disorder due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus.

Related Diseases for Spermatogenic Failure 36

Diseases in the Spermatogenic Failure 6 family:

Spermatogenic Failure 2 Spermatogenic Failure 5
Spermatogenic Failure 1 Spermatogenic Failure 4
Spermatogenic Failure 3 Spermatogenic Failure 7
Spermatogenic Failure 8 Spermatogenic Failure 9
Spermatogenic Failure 10 Spermatogenic Failure 11
Spermatogenic Failure 12 Spermatogenic Failure 13
Spermatogenic Failure 14 Spermatogenic Failure 15
Spermatogenic Failure 16 Spermatogenic Failure 17
Spermatogenic Failure 18 Spermatogenic Failure 19
Spermatogenic Failure 20 Spermatogenic Failure 21
Spermatogenic Failure 22 Spermatogenic Failure 23
Spermatogenic Failure 24 Spermatogenic Failure 25
Spermatogenic Failure 26 Spermatogenic Failure 27
Spermatogenic Failure 28 Spermatogenic Failure 29
Spermatogenic Failure 30 Spermatogenic Failure 31
Spermatogenic Failure 32 Spermatogenic Failure 33
Spermatogenic Failure 34 Spermatogenic Failure 35
Spermatogenic Failure 36 Spermatogenic Failure 37
Spermatogenic Failure 38 Spermatogenic Failure 39
Spermatogenic Failure 40 Spermatogenic Failure 41
Spermatogenic Failure 42 Spermatogenic Failure 43
Spermatogenic Failure 44 Spermatogenic Failure 45
Spermatogenic Failure 46 Spermatogenic Failure 47
Spermatogenic Failure 48 Spermatogenic Failure 49
Spermatogenic Failure 50 Spermatogenic Failure 51
Spermatogenic Failure 52 Spermatogenic Failure 53

Diseases related to Spermatogenic Failure 36 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 9.6 PPP2R3C LOC101927178
2 gonadal dysgenesis 9.5 PPP2R3C LOC101927178

Symptoms & Phenotypes for Spermatogenic Failure 36

Human phenotypes related to Spermatogenic Failure 36:

31
# Description HPO Frequency HPO Source Accession
1 male infertility 31 HP:0003251
2 abnormal sperm morphology 31 HP:0012864

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

Drugs & Therapeutics for Spermatogenic Failure 36

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 36

Genetic Tests for Spermatogenic Failure 36

Genetic tests related to Spermatogenic Failure 36:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 36 29 PPP2R3C

Anatomical Context for Spermatogenic Failure 36

Publications for Spermatogenic Failure 36

Articles related to Spermatogenic Failure 36:

# Title Authors PMID Year
1
PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans. 6 57
30893644 2019

Variations for Spermatogenic Failure 36

ClinVar genetic disease variations for Spermatogenic Failure 36:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPP2R3C , LOC101927178 NM_017917.3(PPP2R3C):c.1049T>C (p.Phe350Ser) SNV Pathogenic 627423 rs1566684983 GRCh37: 14:35560340-35560340
GRCh38: 14:35091134-35091134
2 PPP2R3C , LOC101927178 NM_017917.3(PPP2R3C):c.578T>C (p.Leu193Ser) SNV Pathogenic 627424 rs1566411552 GRCh37: 14:35568586-35568586
GRCh38: 14:35099380-35099380
3 PPP2R3C , LOC101927178 NM_017917.3(PPP2R3C):c.308T>C (p.Leu103Pro) SNV Pathogenic 627425 rs754106837 GRCh37: 14:35579121-35579121
GRCh38: 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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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