MCID: SPR110
MIFTS: 18

Spermatogenic Failure 17

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 17

MalaCards integrated aliases for Spermatogenic Failure 17:

Name: Spermatogenic Failure 17 57 75 6
Male Infertility Due to Oocyte Activation Failure 57 75
Spgf17 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spermatogenic failure 17:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617214
MeSH 44 D007248
SNOMED-CT via HPO 69 258211005 15296000 8619003

Summaries for Spermatogenic Failure 17

UniProtKB/Swiss-Prot : 75 Spermatogenic failure 17: An autosomal recessive infertility disorder due to failure of oocyte activation and fertilization by sperm that otherwise exhibits normal morphology.

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

Description from OMIM: 617214

Symptoms & Phenotypes for Spermatogenic Failure 17

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
infertility
oocyte activation failure


Clinical features from OMIM:

617214

Human phenotypes related to Spermatogenic Failure 17:

32
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789

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

26 (show all 17)
# 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 GR00301-A 9.61 PLCZ1
7 Decreased viability GR00402-S-2 9.61 PIK3C2G PLCZ1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.36 PLCZ1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.36 PLCZ1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.36 PLCZ1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.36 PLCZ1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.36 PIK3C2G PLCZ1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.36 PIK3C2G
14 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.36 PIK3C2G
15 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.36 PIK3C2G
16 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.36 PLCZ1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.36 PIK3C2G

Drugs & Therapeutics for Spermatogenic Failure 17

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 17

Genetic Tests for Spermatogenic Failure 17

Anatomical Context for Spermatogenic Failure 17

Publications for Spermatogenic Failure 17

Variations for Spermatogenic Failure 17

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

75
# Symbol AA change Variation ID SNP ID
1 PLCZ1 p.Ile489Phe VAR_077876 rs757326350

ClinVar genetic disease variations for Spermatogenic Failure 17:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLCZ1 NM_033123.3(PLCZ1): c.1465A> T (p.Ile489Phe) single nucleotide variant Pathogenic rs757326350 GRCh37 Chromosome 12, 18841149: 18841149
2 PLCZ1 NM_033123.3(PLCZ1): c.1465A> T (p.Ile489Phe) single nucleotide variant Pathogenic rs757326350 GRCh38 Chromosome 12, 18688215: 18688215

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

Sources for Spermatogenic Failure 17

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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