MCID: SPR089
MIFTS: 27

Spermatogenic Failure 4

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 4

MalaCards integrated aliases for Spermatogenic Failure 4:

Name: Spermatogenic Failure 4 53 71 13
Spermatogenesis Arrest 53 72 49 71 28 51
Azoospermia Due to Perturbations of Meiosis 53 71
Azoospermia with Maturation Arrest 53 71
Pregnancy Loss, Recurrent, 4 53 71
Arrest of Spermatogenesis 49 69
Spgf4 53 71
Recurrent Pregnancy Loss 4 28
Rprgl4 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31

Classifications:



External Ids:

OMIM 53 270960
UMLS 69 C0232981

Summaries for Spermatogenic Failure 4

OMIM : 53 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 male reproductive system disease and azoospermia, and has symptoms including azoospermia, abnormality of metabolism/homeostasis and recurrent spontaneous abortion. An important gene associated with Spermatogenic Failure 4 is SYCP3 (Synaptonemal Complex Protein 3). Affiliated tissues include testis.

UniProtKB/Swiss-Prot : 71 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 : 72 Spermatogenesis arrest is a complex process of interruption in the differentiation of germinal cells of... more...

Related Diseases for Spermatogenic Failure 4

Symptoms & Phenotypes for Spermatogenic Failure 4

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Spermatogenic Failure 4:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027
2 abnormality of metabolism/homeostasis 31 HP:0001939
3 recurrent spontaneous abortion 31 HP:0200067

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

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 28
2 Spermatogenesis Arrest 28 SYCP3

Anatomical Context for Spermatogenic Failure 4

MalaCards organs/tissues related to Spermatogenic Failure 4:

38
Testis

Publications for Spermatogenic Failure 4

Articles related to Spermatogenic Failure 4:

# Title Authors Year
1
Spermatogenesis arrest caused by conditional deletion of Hsp90I+ in adult mice. ( 23213375 )
2012
2
Thin-trimming of the scrotal reconstruction flap: long-term follow-up shows reversal of spermatogenesis arrest. ( 18786872 )
2009
3
Rescue of spermatogenesis arrest in azoospermic men after long-term gonadotropin treatment. ( 16753161 )
2006

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.657T> C (p.Thr219=) single nucleotide variant Pathogenic rs769825641 GRCh37 Chromosome 12, 102122887: 102122887

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

Sources for Spermatogenic Failure 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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