SPGF17
MCID: SPR110
MIFTS: 23

Spermatogenic Failure 17 (SPGF17)

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

Aliases & Classifications for Spermatogenic Failure 17

MalaCards integrated aliases for Spermatogenic Failure 17:

Name: Spermatogenic Failure 17 57 12 72 29 6
Male Infertility Due to Oocyte Activation Failure 57 12 72
Spgf17 57 12 72
Spermatogenic Failure, Type 17 39

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 1 family (last curated november 2016)


HPO:

31
spermatogenic failure 17:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070174
OMIM® 57 617214
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 15296000 258211005 8619003

Summaries for Spermatogenic Failure 17

Disease Ontology : 12 A male infertility characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has material basis in mutation in the PLCZ1 gene on chromosome 12p12.

MalaCards based summary : Spermatogenic Failure 17, is also known as male infertility due to oocyte activation failure. An important gene associated with Spermatogenic Failure 17 is PLCZ1 (Phospholipase C Zeta 1), and among its related pathways/superpathways are IL-2 Pathway and superpathway of inositol phosphate compounds. Related phenotypes are infertility and Decreased viability

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 17: An autosomal recessive infertility disorder due to failure of oocyte activation and fertilization by sperm that otherwise exhibits normal morphology.

More information from OMIM: 617214 PS258150

Related Diseases for Spermatogenic Failure 17

Symptoms & Phenotypes for Spermatogenic Failure 17

Human phenotypes related to Spermatogenic Failure 17:

31 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
infertility
oocyte activation failure

Clinical features from OMIM®:

617214 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Spermatogenic Failure 17 according to GeneCards Suite gene sharing:

26 (showing 24, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.61 PIK3C2G
2 Decreased viability GR00221-A-1 9.61 PIK3C2G PLCZ1
3 Decreased viability GR00221-A-2 9.61 PIK3C2G
4 Decreased viability GR00221-A-3 9.61 PLCZ1
5 Decreased viability GR00221-A-4 9.61 PIK3C2G
6 Decreased viability GR00249-S 9.61 PIK3C2G PLCZ1
7 Decreased viability GR00301-A 9.61 PLCZ1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.58 PLCZ1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.58 PLCZ1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.58 PLCZ1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.58 PLCZ1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.58 PIK3C2G
13 Increased shRNA abundance (Z-score > 2) GR00366-A-167 9.58 PIK3C2G
14 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.58 PIK3C2G PLCZ1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.58 PIK3C2G
16 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.58 PIK3C2G
17 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.58 PIK3C2G
18 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.58 PIK3C2G
19 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.58 PIK3C2G
20 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.58 PLCZ1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.58 PLCZ1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.58 PIK3C2G
23 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.58 PIK3C2G
24 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.58 PLCZ1

Drugs & Therapeutics for Spermatogenic Failure 17

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 17

Genetic Tests for Spermatogenic Failure 17

Genetic tests related to Spermatogenic Failure 17:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 17 29 PLCZ1

Anatomical Context for Spermatogenic Failure 17

Publications for Spermatogenic Failure 17

Articles related to Spermatogenic Failure 17:

(showing 2, show less)
# Title Authors PMID Year
1
Novel homozygous variations in PLCZ1 lead to poor or failed fertilization characterized by abnormal localization patterns of PLCĪ¶ in sperm. 6 57
31463947 2020
2
Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP. 6 57
26721930 2016

Variations for Spermatogenic Failure 17

ClinVar genetic disease variations for Spermatogenic Failure 17:

6 (showing 6, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIK3C2G , PLCZ1 NM_033123.4(PLCZ1):c.1465A>T (p.Ile489Phe) SNV Pathogenic 271283 rs757326350 GRCh37: 12:18841149-18841149
GRCh38: 12:18688215-18688215
2 PIK3C2G , PLCZ1 NM_033123.4(PLCZ1):c.588C>A (p.Cys196Ter) SNV Pathogenic 978089 GRCh37: 12:18865902-18865902
GRCh38: 12:18712968-18712968
3 PIK3C2G , PLCZ1 NM_033123.4(PLCZ1):c.1048T>C (p.Ser350Pro) SNV Pathogenic 978090 GRCh37: 12:18852854-18852854
GRCh38: 12:18699920-18699920
4 PIK3C2G , PLCZ1 NM_033123.4(PLCZ1):c.736C>T (p.Leu246Phe) SNV Pathogenic 978091 GRCh37: 12:18858228-18858228
GRCh38: 12:18705294-18705294
5 PIK3C2G , PLCZ1 NM_033123.4(PLCZ1):c.972_973del (p.Val326fs) Deletion Pathogenic 1031553 GRCh37: 12:18854479-18854480
GRCh38: 12:18701545-18701546
6 PIK3C2G , PLCZ1 NM_033123.4(PLCZ1):c.1154G>A (p.Arg385Gln) SNV Uncertain significance 1031034 GRCh37: 12:18852748-18852748
GRCh38: 12:18699814-18699814

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 17:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 PLCZ1 p.Ile489Phe VAR_077876 rs757326350

Expression for Spermatogenic Failure 17

Search GEO for disease gene expression data for Spermatogenic Failure 17.

Pathways for Spermatogenic Failure 17

GO Terms for Spermatogenic Failure 17

Biological processes related to Spermatogenic Failure 17 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-mediated signaling GO:0048015 8.62 PLCZ1 PIK3C2G

Sources for Spermatogenic Failure 17

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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