MCID: SPR089
MIFTS: 22

Spermatogenic Failure 4 malady

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 4

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Aliases & Descriptions for Spermatogenic Failure 4:

Name: Spermatogenic Failure 4 49 11 67
Azoospermia Due to Perturbations of Meiosis 22 67
Azoospermia with Maturation Arrest 22 67
Pregnancy Loss, Recurrent, 4 67 24
 
Spermatogenesis Arrest 22 67
Arrest of Spermatogenesis 65
Rprgl4 67
Spgf4 67

Characteristics:

HPO:

61


Classifications:



External Ids:

OMIM49 270960
UMLS65 C0232981

Summaries for Spermatogenic Failure 4

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OMIM:49 Azoospermia, a condition in which there are no sperm present in the ejaculate, has historically been divided into 2... (270960) more...

MalaCards based summary: Spermatogenic Failure 4, also known as azoospermia due to perturbations of meiosis, is related to spermatogenesis arrest and pregnancy loss, recurrent 1, and has symptoms including recurrent spontaneous abortion, abnormality of metabolism/homeostasis and azoospermia. An important gene associated with Spermatogenic Failure 4 is SYCP3 (Synaptonemal Complex Protein 3). Affiliated tissues include testis.

UniProtKB/Swiss-Prot:67 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.

Related Diseases for Spermatogenic Failure 4

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Symptoms for Spermatogenic Failure 4

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Symptoms by clinical synopsis from OMIM:

270960

Clinical features from OMIM:

270960

HPO human phenotypes related to Spermatogenic Failure 4:

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

Drugs & Therapeutics for Spermatogenic Failure 4

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Identification of Predictive Markers for Testis Cancer in a Population of Men With High RiskTerminatedNCT00820287

Search NIH Clinical Center for Spermatogenic Failure 4

Genetic Tests for Spermatogenic Failure 4

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Genetic tests related to Spermatogenic Failure 4:

id Genetic test Affiliating Genes
1 Azoospermia Due to Perturbations of Meiosis22 SYCP3

Anatomical Context for Spermatogenic Failure 4

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MalaCards organs/tissues related to Spermatogenic Failure 4:

33
Testis

Animal Models for Spermatogenic Failure 4 or affiliated genes

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Publications for Spermatogenic Failure 4

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Variations for Spermatogenic Failure 4

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Clinvar genetic disease variations for Spermatogenic Failure 4:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SYCP3SYCP3, 1-BP DEL, 643AdeletionPathogenic
2SYCP3NM_153694.4(SYCP3): c.553-21_553-18delACTTdeletionPathogenicrs587776620GRCh37Chr 12, 102123009: 102123012
3SYCP3NM_153694.4(SYCP3): c.657T> Csingle nucleotide variantPathogenicrs769825641GRCh37Chr 12, 102122887: 102122887

Expression for genes affiliated with Spermatogenic Failure 4

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

Pathways for genes affiliated with Spermatogenic Failure 4

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GO Terms for genes affiliated with Spermatogenic Failure 4

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Sources for Spermatogenic Failure 4

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet