RPRGL4
MCID: SPR089
MIFTS: 20

Spermatogenic Failure 4 (RPRGL4) malady

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 4

Aliases & Descriptions for Spermatogenic Failure 4:

Name: Spermatogenic Failure 4 54 24 66 13
Azoospermia Due to Perturbations of Meiosis 24 66
Azoospermia with Maturation Arrest 24 66
Pregnancy Loss, Recurrent, 4 66 29
Spermatogenesis Arrest 24 66
Arrest of Spermatogenesis 69
Rprgl4 66
Spgf4 66

Characteristics:

HPO:

32

Classifications:



External Ids:

OMIM 54 270960

Summaries for Spermatogenic Failure 4

OMIM : 54 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 abnormality of metabolism/homeostasis, azoospermia and recurrent spontaneous abortion. An important gene associated with Spermatogenic Failure 4 is SYCP3 (Synaptonemal Complex Protein 3).

UniProtKB/Swiss-Prot : 66 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

Symptoms & Phenotypes for Spermatogenic Failure 4

Symptoms by clinical synopsis from OMIM:

270960

Clinical features from OMIM:

270960

Human phenotypes related to Spermatogenic Failure 4:

32
id Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 azoospermia 32 HP:0000027
3 recurrent spontaneous abortion 32 HP:0200067

Drugs & Therapeutics for Spermatogenic Failure 4

Interventional clinical trials:


id Name Status NCT ID Phase
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:

id Genetic test Affiliating Genes
1 Recurrent Pregnancy Loss 4 29
2 Spermatogenic Failure 4 24 SYCP3

Anatomical Context for Spermatogenic Failure 4

Publications for Spermatogenic Failure 4

Variations for Spermatogenic Failure 4

ClinVar genetic disease variations for Spermatogenic Failure 4:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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