SPGF22
MCID: SPR124
MIFTS: 20

Spermatogenic Failure 22 (SPGF22)

Categories: Gastrointestinal diseases, 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 72 29 6
Spgf22 57 12 72

Characteristics:

OMIM®:

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

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


HPO:

31
spermatogenic failure 22:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070177
OMIM® 57 617706
OMIM Phenotypic Series 57 PS258150
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-Fold). Related phenotypes are azoospermia and infertility

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 22: An infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia.

More information from OMIM: 617706 PS258150

Related Diseases for Spermatogenic Failure 22

Symptoms & Phenotypes for Spermatogenic Failure 22

Human phenotypes related to Spermatogenic Failure 22:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027
2 infertility 31 HP:0000789

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 22

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 22

Genetic Tests for Spermatogenic Failure 22

Genetic tests related to Spermatogenic Failure 22:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 22 29 MEIOB

Anatomical Context for Spermatogenic Failure 22

Publications for Spermatogenic Failure 22

Articles related to Spermatogenic Failure 22:

# Title Authors PMID Year
1
A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes. 57 6
28206990 2017

Variations for Spermatogenic Failure 22

ClinVar genetic disease variations for Spermatogenic Failure 22:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MEIOB NM_001163560.3(MEIOB):c.191A>T (p.Asn64Ile) SNV Pathogenic 440759 rs1555472691 GRCh37: 16:1912054-1912054
GRCh38: 16:1862053-1862053
2 FAHD1 , MEIOB NM_001163560.3(MEIOB):c.1198G>C (p.Glu400Gln) SNV Pathogenic 1033755 GRCh37: 16:1889276-1889276
GRCh38: 16:1839275-1839275
3 MEIOB NM_001163560.3(MEIOB):c.826G>T (p.Glu276Ter) SNV Pathogenic 1033756 GRCh37: 16:1894917-1894917
GRCh38: 16:1844916-1844916

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

72
# Symbol AA change Variation ID SNP ID
1 MEIOB p.Asn64Ile VAR_080034 rs155547269

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

Molecular functions related to Spermatogenic Failure 22 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 8.62 MEIOB FAHD1

Sources for Spermatogenic Failure 22

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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