MCID: SPR089
MIFTS: 26

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 57 75 13
Spermatogenesis Arrest 57 76 53 75 29 55 6 40
Azoospermia Due to Perturbations of Meiosis 57 75
Azoospermia with Maturation Arrest 57 75
Pregnancy Loss, Recurrent, 4 57 75
Arrest of Spermatogenesis 53 73
Spgf4 57 75
Recurrent Pregnancy Loss 4 29
Rprgl4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32

Classifications:



External Ids:

OMIM 57 270960
UMLS 73 C0232981

Summaries for Spermatogenic Failure 4

OMIM : 57 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. An important gene associated with Spermatogenic Failure 4 is SYCP3 (Synaptonemal Complex Protein 3). Affiliated tissues include testis, and related phenotypes are azoospermia and abnormality of metabolism/homeostasis

UniProtKB/Swiss-Prot : 75 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 : 76 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:

57
GenitourinaryInternal GenitaliaMale:
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:

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 recurrent spontaneous abortion 32 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 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 29
2 Spermatogenesis Arrest 29 SYCP3

Anatomical Context for Spermatogenic Failure 4

MalaCards organs/tissues related to Spermatogenic Failure 4:

41
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.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

Sources for Spermatogenic Failure 4

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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