MCID: SPR089
MIFTS: 21

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 50 68 12
Azoospermia Due to Perturbations of Meiosis 23 68
Azoospermia with Maturation Arrest 23 68
Pregnancy Loss, Recurrent, 4 68 25
 
Spermatogenesis Arrest 23 68
Arrest of Spermatogenesis 66
Rprgl4 68
Spgf4 68

Characteristics:

HPO:

62


Classifications:



External Ids:

OMIM50 270960

Summaries for Spermatogenic Failure 4

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OMIM:50 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 complete spermatogenic arrest, incomplete spermatogenic arrest and infertility/subfertility male. An important gene associated with Spermatogenic Failure 4 is SYCP3 (Synaptonemal Complex Protein 3). Affiliated tissues include testis.

UniProtKB/Swiss-Prot:68 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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Diseases in the Spermatogenic Failure 6 family:

Spermatogenic Failure 2 Spermatogenic Failure 3
Spermatogenic Failure 8 Spermatogenic Failure 12
Spermatogenic Failure 7 Spermatogenic Failure 9
spermatogenic failure 4 Spermatogenic Failure 10
Spermatogenic Failure 14 Spermatogenic Failure 11
Spermatogenic Failure 13 Spermatogenic Failure 5

Diseases related to Spermatogenic Failure 4 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1spermatogenesis arrest12.5
2pregnancy loss, recurrent 110.0

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 azoospermia HP:0000027
2 abnormality of metabolism/homeostasis HP:0001939
3 recurrent spontaneous abortion HP:0200067

UMLS symptoms related to Spermatogenic Failure 4:


complete spermatogenic arrest, incomplete spermatogenic arrest, infertility/subfertility male

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 Recurrent Pregnancy Loss 425
2 Azoospermia Due to Perturbations of Meiosis23 SYCP3

Anatomical Context for Spermatogenic Failure 4

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MalaCards organs/tissues related to Spermatogenic Failure 4:

34
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
2NM_153694.4(SYCP3): c.553-21_553-18delACTTdeletionPathogenicrs587776620GRCh37Chr 12, 102123009: 102123012
3NM_153694.4(SYCP3): c.657T> C (p.Thr219=)single 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet