RPRGL4
MCID: SPR089
MIFTS: 28

Spermatogenic Failure 4 (RPRGL4)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 4

MalaCards integrated aliases for Spermatogenic Failure 4:

Name: Spermatogenic Failure 4 58 12 76 13
Spermatogenesis Arrest 58 77 54 76 30 56 6 41
Spgf4 58 12 76
Azoospermia Due to Perturbations of Meiosis 58 76
Azoospermia with Maturation Arrest 58 76
Pregnancy Loss, Recurrent, 4 58 76
Arrest of Spermatogenesis 54 74
Recurrent Pregnancy Loss 4 30
Rprgl4 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
affected males are infertile, whereas affected females have recurrent pregnancy loss


HPO:

33

Classifications:



External Ids:

Disease Ontology 12 DOID:0070176
OMIM 58 270960
UMLS 74 C0232981

Summaries for Spermatogenic Failure 4

OMIM : 58 Azoospermia, a condition in which there are no sperm present in the ejaculate, has historically been divided into 2 broad categories, obstructive (e.g., 277180) and nonobstructive. Among the genetically based, inherited nonobstructive causes are defects of spermatogenesis, which may interrupt the development of the sperm at various stages, either before (e.g., 415000) or during meiosis. SPGF4 is a form of azoospermia due to perturbations of meiosis. For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (270960)

MalaCards based summary : Spermatogenic Failure 4, also known as spermatogenesis arrest, is related to infertility and azoospermia. An important gene associated with Spermatogenic Failure 4 is SYCP3 (Synaptonemal Complex Protein 3). Affiliated tissues include testis, and related phenotypes are abnormality of metabolism/homeostasis and azoospermia

Disease Ontology : 12 An azoospermia characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has material basis in mutation in the SYCP3 gene on chromosome 12q23.

UniProtKB/Swiss-Prot : 76 Pregnancy loss, recurrent, 4: A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. Spermatogenic failure 4: An infertility disorder characterized by azoospermia, a condition of having no sperm present in the ejaculate. Testicular histology shows arrest of spermatogenesis at the pachytene stage of primary spermatocytes.

Wikipedia : 77 Spermatogenesis arrest is known as the interruption of germinal cells of specific cellular type, which... more...

Symptoms & Phenotypes for Spermatogenic Failure 4

Human phenotypes related to Spermatogenic Failure 4:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 33 HP:0001939
2 azoospermia 33 HP:0000027
3 recurrent spontaneous abortion 33 HP:0200067

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
azoospermia
testicular histology shows arrest of spermatogenesis at the pachytene stage of primary spermatocytes

Genitourinary Internal Genitalia Female:
spontaneous abortion, recurrent
fetal loss after 6 to 10 weeks of gestation

Clinical features from OMIM:

270960

Drugs & Therapeutics for Spermatogenic Failure 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Identification of Predictive Markers for Testis Cancer in a Population of Men With High Risk Terminated NCT00820287 Not Applicable

Search NIH Clinical Center for Spermatogenic Failure 4

Genetic Tests for Spermatogenic Failure 4

Genetic tests related to Spermatogenic Failure 4:

# Genetic test Affiliating Genes
1 Recurrent Pregnancy Loss 4 30
2 Spermatogenesis Arrest 30 SYCP3

Anatomical Context for Spermatogenic Failure 4

MalaCards organs/tissues related to Spermatogenic Failure 4:

42
Testis

Publications for Spermatogenic Failure 4

Articles related to Spermatogenic Failure 4:

# Title Authors Year
1
Heterozygous mutation of eEF1A1b resulted in spermatogenesis arrest and infertility in male tilapia, Oreochromis niloticus. ( 28266557 )
2017
2
Spermatogenesis arrest caused by conditional deletion of Hsp90α in adult mice. ( 23213375 )
2012
3
Thin-trimming of the scrotal reconstruction flap: long-term follow-up shows reversal of spermatogenesis arrest. ( 18786872 )
2009
4
Mutations of the SYCP3 gene in women with recurrent pregnancy loss. ( 19110213 )
2009
5
Rescue of spermatogenesis arrest in azoospermic men after long-term gonadotropin treatment. ( 16753161 )
2006
6
Azoospermia in patients heterozygous for a mutation in SYCP3. ( 14643120 )
2003

Variations for Spermatogenic Failure 4

ClinVar genetic disease variations for Spermatogenic Failure 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SYCP3 SYCP3, 1-BP DEL, 643A deletion Pathogenic
2 SYCP3 NM_153694.4(SYCP3): c.553-21_553-18delACTT deletion Pathogenic rs587776620 GRCh37 Chromosome 12, 102123009: 102123012
3 SYCP3 NM_153694.4(SYCP3): c.553-21_553-18delACTT deletion Pathogenic rs587776620 GRCh38 Chromosome 12, 101729231: 101729234
4 SYCP3 NM_153694.4(SYCP3): c.657T> C (p.Thr219=) single nucleotide variant Pathogenic rs769825641 GRCh37 Chromosome 12, 102122887: 102122887
5 SYCP3 NM_153694.4(SYCP3): c.657T> C (p.Thr219=) single nucleotide variant Pathogenic rs769825641 GRCh38 Chromosome 12, 101729109: 101729109

Expression for Spermatogenic Failure 4

Search GEO for disease gene expression data for Spermatogenic Failure 4.

Pathways for Spermatogenic Failure 4

GO Terms for Spermatogenic Failure 4

Biological processes related to Spermatogenic Failure 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spermatogenesis GO:0007283 8.62 AR SYCP3

Sources for Spermatogenic Failure 4

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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