SPGF48
MCID: SPR160
MIFTS: 18

Spermatogenic Failure 48 (SPGF48)

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

Aliases & Classifications for Spermatogenic Failure 48

MalaCards integrated aliases for Spermatogenic Failure 48:

Name: Spermatogenic Failure 48 57 12 6
Spgf48 57 12

Characteristics:

OMIM®:

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


HPO:

31
spermatogenic failure 48:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0112176
OMIM® 57 619108
OMIM Phenotypic Series 57 PS258150

Summaries for Spermatogenic Failure 48

OMIM® : 57 Spermatogenic failure-48 (SPGF48) is characterized by male infertility due to a variable spectrum of severely impaired spermatogenesis, primarily at meiosis and resulting in azoospermia. However, sparse postmeiotic germ cell development and retrieval of sperm in some cases has been reported (Wyrwoll et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150. (619108) (Updated 05-Apr-2021)

MalaCards based summary : Spermatogenic Failure 48, is also known as spgf48. An important gene associated with Spermatogenic Failure 48 is M1AP (Meiosis 1 Associated Protein). Related phenotypes are azoospermia and male infertility

Disease Ontology : 12 An azoospermia characterized by impaired spermatogenesis, primarily occurring at meiosis that has material basis in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1.

Related Diseases for Spermatogenic Failure 48

Symptoms & Phenotypes for Spermatogenic Failure 48

Human phenotypes related to Spermatogenic Failure 48:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 very rare (1%) HP:0000027
2 male infertility 31 very rare (1%) HP:0003251
3 oligospermia 31 very rare (1%) HP:0000798
4 spermatogenesis maturation arrest 31 HP:0031038

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
azoospermia
infertility
cryptozoospermia
severe oligozoospermia
little to no progressive motility
more

Clinical features from OMIM®:

619108 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 48

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 48

Genetic Tests for Spermatogenic Failure 48

Anatomical Context for Spermatogenic Failure 48

Publications for Spermatogenic Failure 48

Articles related to Spermatogenic Failure 48:

# Title Authors PMID Year
1
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility. 57 6
32673564 2020
2
An M1AP homozygous splice-site mutation associated with severe oligozoospermia in a consanguineous family. 6 57
32017041 2020

Variations for Spermatogenic Failure 48

ClinVar genetic disease variations for Spermatogenic Failure 48:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 M1AP NM_138804.5(M1AP):c.1435-1G>A SNV Pathogenic 870128 GRCh37: 2:74786002-74786002
GRCh38: 2:74558875-74558875
2 M1AP NM_138804.4(M1AP):c.676dup (p.Trp226fs) Duplication Pathogenic 805830 rs144217347 GRCh37: 2:74808893-74808894
GRCh38: 2:74581766-74581767
3 M1AP NM_001321739.2(M1AP):c.797G>A (p.Arg266Gln) SNV Pathogenic 975854 GRCh37: 2:74803718-74803718
GRCh38: 2:74576591-74576591
4 M1AP NM_138804.4(M1AP):c.949G>A (p.Gly317Arg) SNV Pathogenic 805831 rs140179344 GRCh37: 2:74802690-74802690
GRCh38: 2:74575563-74575563
5 M1AP NM_138804.4(M1AP):c.1166C>T (p.Pro389Leu) SNV Pathogenic 805834 rs751126701 GRCh37: 2:74789459-74789459
GRCh38: 2:74562332-74562332

Expression for Spermatogenic Failure 48

Search GEO for disease gene expression data for Spermatogenic Failure 48.

Pathways for Spermatogenic Failure 48

GO Terms for Spermatogenic Failure 48

Sources for Spermatogenic Failure 48

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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