SPGF29
MCID: SPR132
MIFTS: 17

Spermatogenic Failure 29 (SPGF29)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 29

MalaCards integrated aliases for Spermatogenic Failure 29:

Name: Spermatogenic Failure 29 58 76 6
Spgf29 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 affected brothers (last curated august 2018)
heterozygotes may exhibit oligoteratozoospermia with reduced fertility


Classifications:



External Ids:

OMIM 58 618091
MeSH 45 D007248
MedGen 43 CN252705
SNOMED-CT via HPO 70 425558002 48188009

Summaries for Spermatogenic Failure 29

OMIM : 58 Spermatogenic failure-29 is characterized by nonobstructive azoospermia or oligozoospermia. Sperm that are present are immotile and exhibit abnormal morphology, primarily defects of the acrosome and head-neck junction (Kherraf et al., 2017). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618091)

MalaCards based summary : Spermatogenic Failure 29, is also known as spgf29. An important gene associated with Spermatogenic Failure 29 is SPINK2 (Serine Peptidase Inhibitor, Kazal Type 2). Related phenotype is azoospermia.

UniProtKB/Swiss-Prot : 76 Spermatogenic failure 29: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia or oligozoospermia. When produced, spermatozoa are immotile and have abnormal morphology, primarily defects of the acrosome and head-neck junction.

Symptoms & Phenotypes for Spermatogenic Failure 29

Human phenotypes related to Spermatogenic Failure 29:

33
# Description HPO Frequency HPO Source Accession
1 azoospermia 33 HP:0000027

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
azoospermia
immotile sperm
oligozoospermia
pin-shaped sperm heads
absent acrosome
more

Clinical features from OMIM:

618091

Drugs & Therapeutics for Spermatogenic Failure 29

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 29

Genetic Tests for Spermatogenic Failure 29

Anatomical Context for Spermatogenic Failure 29

Publications for Spermatogenic Failure 29

Articles related to Spermatogenic Failure 29:

# Title Authors Year
1
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes. ( 28554943 )
2017

Variations for Spermatogenic Failure 29

ClinVar genetic disease variations for Spermatogenic Failure 29:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPINK2 NM_021114.3(SPINK2): c.56-3C> G single nucleotide variant Pathogenic rs577163578 GRCh37 Chromosome 4, 57686748: 57686748
2 SPINK2 NM_021114.3(SPINK2): c.56-3C> G single nucleotide variant Pathogenic rs577163578 GRCh38 Chromosome 4, 56820582: 56820582

Expression for Spermatogenic Failure 29

Search GEO for disease gene expression data for Spermatogenic Failure 29.

Pathways for Spermatogenic Failure 29

GO Terms for Spermatogenic Failure 29

Sources for Spermatogenic Failure 29

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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