MCID: SPR132
MIFTS: 15

Spermatogenic Failure 29

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 29

MalaCards integrated aliases for Spermatogenic Failure 29:

Name: Spermatogenic Failure 29 57 6
Spgf29 57

Characteristics:

OMIM:

57
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 57 618091
SNOMED-CT via HPO 69 425558002 48188009

Summaries for Spermatogenic Failure 29

OMIM : 57 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.

Symptoms & Phenotypes for Spermatogenic Failure 29

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Male:
azoospermia
immotile sperm
oligozoospermia
pin-shaped sperm heads
absent acrosome
more

Clinical features from OMIM:

618091

Human phenotypes related to Spermatogenic Failure 29:

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027

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

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 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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