SPGF29
MCID: SPR132
MIFTS: 18

Spermatogenic Failure 29 (SPGF29)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 29

MalaCards integrated aliases for Spermatogenic Failure 29:

Name: Spermatogenic Failure 29 57 12 72 29 6
Spgf29 57 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
spermatogenic failure 29:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111930
OMIM® 57 618091
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 258211005 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) (Updated 05-Apr-2021)

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.

Disease Ontology : 12 A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has material basis in homozygous or compound geterozygous mutation in SPINK2 on chromosome 4q12.

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Spermatogenic Failure 29

Symptoms & Phenotypes for Spermatogenic Failure 29

Human phenotypes related to Spermatogenic Failure 29:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
azoospermia
immotile sperm
oligozoospermia
pin-shaped sperm heads
absent acrosome
more

Clinical features from OMIM®:

618091 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 29

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 29

Genetic Tests for Spermatogenic Failure 29

Genetic tests related to Spermatogenic Failure 29:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 29 29 SPINK2

Anatomical Context for Spermatogenic Failure 29

Publications for Spermatogenic Failure 29

Articles related to Spermatogenic Failure 29:

# Title Authors PMID Year
1
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes. 57 6
28554943 2017

Variations for Spermatogenic Failure 29

ClinVar genetic disease variations for Spermatogenic Failure 29:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPINK2 NM_001271718.2(SPINK2):c.206-3C>G SNV Pathogenic 559843 rs577163578 GRCh37: 4:57686748-57686748
GRCh38: 4:56820582-56820582
2 SPINK2 NM_001271718.2(SPINK2):c.360-3C>T SNV Uncertain significance 1028720 GRCh37: 4:57676353-57676353
GRCh38: 4:56810187-56810187

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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