SPGF2
MCID: SPR084
MIFTS: 27

Spermatogenic Failure 2 (SPGF2)

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

Aliases & Classifications for Spermatogenic Failure 2

MalaCards integrated aliases for Spermatogenic Failure 2:

Name: Spermatogenic Failure 2 57 12 13 15
Spgf2 57 12
Aspermiogenesis Factor; Asg 57
Aspermiogenesis Factor 57
Asg 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
spermatogenic failure 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070164
OMIM® 57 108420
OMIM Phenotypic Series 57 PS258150
MedGen 41 C1862459
SNOMED-CT via HPO 68 263681008 425558002 48188009

Summaries for Spermatogenic Failure 2

Disease Ontology : 12 A male infertility characterized by azoospermia or severe oligozoospermia that has material basis in inversions on chromosome 1.

MalaCards based summary : Spermatogenic Failure 2, also known as spgf2, is related to spermatogenic failure, y-linked, 2 and spermatogenic failure, x-linked, 2. An important gene associated with Spermatogenic Failure 2 is SPGF2 (Spermatogenic Failure), and among its related pathways/superpathways is Influenza Viral RNA Transcription and Replication. Affiliated tissues include prostate, and related phenotypes are azoospermia and oligospermia

More information from OMIM: 108420 PS258150

Related Diseases for Spermatogenic Failure 2

Diseases in the Spermatogenic Failure 6 family:

Spermatogenic Failure 2 Spermatogenic Failure 5
Spermatogenic Failure 1 Spermatogenic Failure 4
Spermatogenic Failure 3 Spermatogenic Failure 7
Spermatogenic Failure 8 Spermatogenic Failure 9
Spermatogenic Failure 10 Spermatogenic Failure 11
Spermatogenic Failure 12 Spermatogenic Failure 13
Spermatogenic Failure 14 Spermatogenic Failure 15
Spermatogenic Failure 16 Spermatogenic Failure 17
Spermatogenic Failure 18 Spermatogenic Failure 19
Spermatogenic Failure 20 Spermatogenic Failure 21
Spermatogenic Failure 22 Spermatogenic Failure 23
Spermatogenic Failure 24 Spermatogenic Failure 25
Spermatogenic Failure 26 Spermatogenic Failure 27
Spermatogenic Failure 28 Spermatogenic Failure 29
Spermatogenic Failure 30 Spermatogenic Failure 31
Spermatogenic Failure 32 Spermatogenic Failure 33
Spermatogenic Failure 34 Spermatogenic Failure 35
Spermatogenic Failure 36 Spermatogenic Failure 37
Spermatogenic Failure 38 Spermatogenic Failure 39
Spermatogenic Failure 40 Spermatogenic Failure 41
Spermatogenic Failure 42 Spermatogenic Failure 43
Spermatogenic Failure 44 Spermatogenic Failure 45
Spermatogenic Failure 46 Spermatogenic Failure 47
Spermatogenic Failure 48 Spermatogenic Failure 49
Spermatogenic Failure 50 Spermatogenic Failure 51
Spermatogenic Failure 52 Spermatogenic Failure 53

Diseases related to Spermatogenic Failure 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 spermatogenic failure, y-linked, 2 11.3
2 spermatogenic failure, x-linked, 2 11.2
3 prostate cancer 10.0
4 neutropenia 10.0
5 constipation 10.0
6 bladder cancer 9.9
7 pancreatic cancer 9.9
8 exanthem 9.9
9 thrombotic thrombocytopenic purpura 9.9
10 diarrhea 9.9
11 wernicke encephalopathy 9.9
12 glioblastoma 9.9
13 purpura 9.9
14 gastric adenocarcinoma 9.9
15 pancreatic adenocarcinoma 9.9
16 hyperglycemia 9.9
17 subacute delirium 9.9
18 hypoglycemia 9.9
19 mallory-weiss syndrome 9.9
20 spermatogenic failure 1 9.5 RPL8 RPL13A

Graphical network of the top 20 diseases related to Spermatogenic Failure 2:



Diseases related to Spermatogenic Failure 2

Symptoms & Phenotypes for Spermatogenic Failure 2

Human phenotypes related to Spermatogenic Failure 2:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027
2 oligospermia 31 HP:0000798

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
azoospermia
oligospermia

Laboratory Abnormalities:
pericentric inversion of chromosome 1

Clinical features from OMIM®:

108420 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Spermatogenic Failure 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell number GR00303-A 8.62 RPL13A RPL8

Drugs & Therapeutics for Spermatogenic Failure 2

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 2

Genetic Tests for Spermatogenic Failure 2

Anatomical Context for Spermatogenic Failure 2

MalaCards organs/tissues related to Spermatogenic Failure 2:

40
Prostate

Publications for Spermatogenic Failure 2

Articles related to Spermatogenic Failure 2:

# Title Authors PMID Year
1
An excess of chromosome 1 breakpoints in male infertility. 57
15367911 2004
2
Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest. 57
7966196 1994
3
Pericentric inversion and sterility. 57
3656377 1987
4
Pericentric inversion in human chromosome 1 and the risk for male sterility. 57
3612704 1987
5
Electron microscopic investigations of synaptonemal complexes in an infertile human male carrier of a pericentric inversion inv(1)(p32q42). Regular loop formation but defective synapsis including a possible interchromosomal effect. 57
3570302 1987
6
Familial inv(1)(p36.3q12) associated with sterility. 57
3950943 1986
7
Synapsis and synaptic adjustment in an infertile human male heterozygous for a pericentric inversion in chromosome 1. 57
3943869 1986
8
Familial inv(1) (p3500q21.3) associated with azoospermia. 57
6714976 1984
9
Pericentric inversion of chromosome 1 in an azoospermic man. 57
7120320 1982
10
Pericentric inversion of chromosome 1 in three sterile brothers. 57
7287009 1981

Variations for Spermatogenic Failure 2

Expression for Spermatogenic Failure 2

Search GEO for disease gene expression data for Spermatogenic Failure 2.

Pathways for Spermatogenic Failure 2

Pathways related to Spermatogenic Failure 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.27 RPL8 RPL13A

GO Terms for Spermatogenic Failure 2

Cellular components related to Spermatogenic Failure 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.26 RPL8 RPL13A
2 ribosome GO:0005840 9.16 RPL8 RPL13A
3 cytosolic large ribosomal subunit GO:0022625 8.96 RPL8 RPL13A
4 large ribosomal subunit GO:0015934 8.62 RPL8 RPL13A

Biological processes related to Spermatogenic Failure 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.32 RPL8 RPL13A
2 translational initiation GO:0006413 9.26 RPL8 RPL13A
3 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.16 RPL8 RPL13A
4 viral transcription GO:0019083 8.96 RPL8 RPL13A
5 SRP-dependent cotranslational protein targeting to membrane GO:0006614 8.62 RPL8 RPL13A

Molecular functions related to Spermatogenic Failure 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of ribosome GO:0003735 8.62 RPL8 RPL13A

Sources for Spermatogenic Failure 2

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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