MCID: SPR043
MIFTS: 18

Spermatogenic Failure 9

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 9

MalaCards integrated aliases for Spermatogenic Failure 9:

Name: Spermatogenic Failure 9 53 71 28 13 69
Spgf9 53 71
Globozoospermia, Complete 53
Globozoospermia Complete 71
Globozoospermia, Total 53
Globozoospermia Total 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
spermatogenic failure 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613958
MedGen 39 C3151407
MeSH 41 D007248
SNOMED-CT via HPO 65 258211005 236818008
UMLS 69 C3151407

Summaries for Spermatogenic Failure 9

OMIM : 53 Spermatogenic failure-9 is associated with globozoospermia, a rare phenotype of primary male infertility characterized by the production of a majority of round-headed spermatozoa without an acrosome (summary by Harbuz et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (613958)

MalaCards based summary : Spermatogenic Failure 9, also known as spgf9, is related to spermatogenic failure 6, and has symptoms including globozoospermia An important gene associated with Spermatogenic Failure 9 is DPY19L2 (Dpy-19 Like 2).

UniProtKB/Swiss-Prot : 71 Spermatogenic failure 9: An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon.

Related Diseases for Spermatogenic Failure 9

Symptoms & Phenotypes for Spermatogenic Failure 9

Symptoms via clinical synopsis from OMIM:

53
Genitourinary Internal Genitalia Male:
globozoospermia
normal or near-normal sperm counts


Clinical features from OMIM:

613958

Human phenotypes related to Spermatogenic Failure 9:

31
# Description HPO Frequency HPO Source Accession
1 globozoospermia 31 HP:0012205

Drugs & Therapeutics for Spermatogenic Failure 9

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 9

Genetic Tests for Spermatogenic Failure 9

Genetic tests related to Spermatogenic Failure 9:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 9 28 DPY19L2

Anatomical Context for Spermatogenic Failure 9

Publications for Spermatogenic Failure 9

Variations for Spermatogenic Failure 9

ClinVar genetic disease variations for Spermatogenic Failure 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DPY19L2 NC_000012.12: g.(?_63558913)_(63669201_?)del deletion Pathogenic GRCh38 Chromosome 12, 63558913: 63669201
2 DPY19L2 NM_173812.4(DPY19L2): c.869G> A (p.Arg290His) single nucleotide variant Pathogenic rs147579680 GRCh37 Chromosome 12, 64017904: 64017904
3 DPY19L2 NM_173812.4(DPY19L2): c.2038A> T (p.Lys680Ter) single nucleotide variant Pathogenic rs587777205 GRCh37 Chromosome 12, 63963092: 63963092
4 DPY19L2 NM_173812.4(DPY19L2): c.1183delT (p.Ser395Leufs) deletion Pathogenic rs751879424 GRCh38 Chromosome 12, 63617339: 63617339
5 DPY19L2 NG_031909.1: g.(12232_26209)_(29173_47048)del deletion Pathogenic
6 DPY19L2 NM_173812.4(DPY19L2): c.892C> T (p.Arg298Cys) single nucleotide variant Pathogenic rs587777206 GRCh37 Chromosome 12, 64017881: 64017881
7 DPY19L2 NM_173812.4(DPY19L2): c.1218+1G> A single nucleotide variant Pathogenic rs868256749 GRCh37 Chromosome 12, 64011083: 64011083

Expression for Spermatogenic Failure 9

Search GEO for disease gene expression data for Spermatogenic Failure 9.

Pathways for Spermatogenic Failure 9

GO Terms for Spermatogenic Failure 9

Sources for Spermatogenic Failure 9

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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