MCID: SPR043
MIFTS: 18

Spermatogenic Failure 9

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 9

MalaCards integrated aliases for Spermatogenic Failure 9:

Name: Spermatogenic Failure 9 57 75 29 13 6 73
Spgf9 57 75
Spermatogenic Failure, Type 9 40
Globozoospermia, Complete 57
Globozoospermia Complete 75
Globozoospermia, Total 57
Globozoospermia Total 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spermatogenic failure 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613958
MedGen 42 C3151407
MeSH 44 D007248
SNOMED-CT via HPO 69 258211005 236818008
UMLS 73 C3151407

Summaries for Spermatogenic Failure 9

OMIM : 57 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. An important gene associated with Spermatogenic Failure 9 is DPY19L2 (Dpy-19 Like 2). Related phenotype is globozoospermia.

UniProtKB/Swiss-Prot : 75 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:

57
GenitourinaryInternal GenitaliaMale:
globozoospermia
normal or near-normal sperm counts


Clinical features from OMIM:

613958

Human phenotypes related to Spermatogenic Failure 9:

32
# Description HPO Frequency HPO Source Accession
1 globozoospermia 32 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 29 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
(show all 13)
# 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 NC_000012.12: g.(?_63558913)_(63669201_?)del deletion Pathogenic GRCh37 Chromosome 12, 63952693: 64062354
3 DPY19L2 NM_173812.4(DPY19L2): c.1218+1G> A single nucleotide variant Pathogenic rs868256749 GRCh38 Chromosome 12, 63617303: 63617303
4 DPY19L2 NM_173812.4(DPY19L2): c.869G> A (p.Arg290His) single nucleotide variant Pathogenic rs147579680 GRCh37 Chromosome 12, 64017904: 64017904
5 DPY19L2 NM_173812.4(DPY19L2): c.869G> A (p.Arg290His) single nucleotide variant Pathogenic rs147579680 GRCh38 Chromosome 12, 63624124: 63624124
6 DPY19L2 NM_173812.4(DPY19L2): c.2038A> T (p.Lys680Ter) single nucleotide variant Pathogenic rs587777205 GRCh37 Chromosome 12, 63963092: 63963092
7 DPY19L2 NM_173812.4(DPY19L2): c.2038A> T (p.Lys680Ter) single nucleotide variant Pathogenic rs587777205 GRCh38 Chromosome 12, 63569312: 63569312
8 DPY19L2 NM_173812.4(DPY19L2): c.1183delT (p.Ser395Leufs) deletion Pathogenic rs751879424 GRCh38 Chromosome 12, 63617339: 63617339
9 DPY19L2 NM_173812.4(DPY19L2): c.1183delT (p.Ser395Leufs) deletion Pathogenic rs751879424 GRCh37 Chromosome 12, 64011119: 64011119
10 DPY19L2 NG_031909.1: g.(12232_26209)_(29173_47048)del deletion Pathogenic
11 DPY19L2 NM_173812.4(DPY19L2): c.892C> T (p.Arg298Cys) single nucleotide variant Pathogenic rs587777206 GRCh37 Chromosome 12, 64017881: 64017881
12 DPY19L2 NM_173812.4(DPY19L2): c.892C> T (p.Arg298Cys) single nucleotide variant Pathogenic rs587777206 GRCh38 Chromosome 12, 63624101: 63624101
13 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
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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