SPGF22
MCID: SPR124
MIFTS: 15

Spermatogenic Failure 22 (SPGF22)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 22

MalaCards integrated aliases for Spermatogenic Failure 22:

Name: Spermatogenic Failure 22 57 12 75 6
Spgf22 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 family (last curated september 2017)


Classifications:



External Ids:

OMIM 57 617706
Disease Ontology 12 DOID:0070177
MeSH 44 D007248

Summaries for Spermatogenic Failure 22

Disease Ontology : 12 An azoospermia characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has material basis in mutation in the MEIOB gene on chromosome 16p13.

MalaCards based summary : Spermatogenic Failure 22, is also known as spgf22. An important gene associated with Spermatogenic Failure 22 is MEIOB (Meiosis Specific With OB Domains). Related phenotypes are azoospermia and infertility

UniProtKB/Swiss-Prot : 75 Spermatogenic failure 22: An infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia.

Description from OMIM: 617706

Symptoms & Phenotypes for Spermatogenic Failure 22

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Male:
infertility
azoospermia, nonobstructive
very low percentage of xy chromosome bivalents
low percentage of metaphase spermatocytes
pyknotic nuclei in testicular tubules


Clinical features from OMIM:

617706

Human phenotypes related to Spermatogenic Failure 22:

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 infertility 32 HP:0000789

Drugs & Therapeutics for Spermatogenic Failure 22

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 22

Genetic Tests for Spermatogenic Failure 22

Anatomical Context for Spermatogenic Failure 22

Publications for Spermatogenic Failure 22

Variations for Spermatogenic Failure 22

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 22:

75
# Symbol AA change Variation ID SNP ID
1 MEIOB p.Asn64Ile VAR_080034

ClinVar genetic disease variations for Spermatogenic Failure 22:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MEIOB NM_001163560.2(MEIOB): c.191A> T (p.Asn64Ile) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 1862053: 1862053
2 MEIOB NM_001163560.2(MEIOB): c.191A> T (p.Asn64Ile) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 1912054: 1912054

Expression for Spermatogenic Failure 22

Search GEO for disease gene expression data for Spermatogenic Failure 22.

Pathways for Spermatogenic Failure 22

GO Terms for Spermatogenic Failure 22

Sources for Spermatogenic Failure 22

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
Content
Loading form....