SPGF8
MCID: SPR042
MIFTS: 32

Spermatogenic Failure 8 (SPGF8)

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

Aliases & Classifications for Spermatogenic Failure 8

MalaCards integrated aliases for Spermatogenic Failure 8:

Name: Spermatogenic Failure 8 57 12 72 29 13 6 15 70
Spgf8 57 12 72
Spermatogenic Failure, Type 8 39

Characteristics:

OMIM®:

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


HPO:

31
spermatogenic failure 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070169
OMIM® 57 613957
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
MedGen 41 C3151406
SNOMED-CT via HPO 68 263681008 425558002 48188009
UMLS 70 C3151406

Summaries for Spermatogenic Failure 8

Disease Ontology : 12 A male infertility characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has material basis in heterozygous mutation in the NR5A1 gene on chromosome 9q33.

MalaCards based summary : Spermatogenic Failure 8, also known as spgf8, is related to 46,xy partial gonadal dysgenesis and nonsyndromic disorders of testicular development. An important gene associated with Spermatogenic Failure 8 is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1), and among its related pathways/superpathways is Coregulation of Androgen receptor activity. Related phenotypes are azoospermia and cryptozoospermia

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 8: An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia.

More information from OMIM: 613957 PS258150

Related Diseases for Spermatogenic Failure 8

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 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 46,xy partial gonadal dysgenesis 10.2 NR5A1 DMRT3
2 nonsyndromic disorders of testicular development 10.1 NR5A1 DMRT1
3 hypermobility syndrome 10.1 RLN2 RLN1
4 46,xy sex reversal 9 10.1 NR5A1 AR
5 46,xx sex reversal 10.1 NR5A1 DMRT1
6 spermatocytoma 10.0 DMRT3 DMRT1
7 sertoli cell tumor 10.0 NR5A1 AR
8 persistent mullerian duct syndrome 10.0 NR5A1 DMRT1
9 preterm premature rupture of the membranes 10.0 RLN2 RLN1
10 campomelic dysplasia 10.0 NR5A1 DMRT1
11 gonadoblastoma 10.0 NR5A1 DMRT3 DMRT1
12 spermatogenic failure 50 9.9 NR5A1 KDM4C DMRT1
13 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.9 NR5A1 DMRT3 DMRT1
14 aromatase excess syndrome 9.9 NR5A1 AR
15 gonadal dysgenesis 9.9 NR5A1 DMRT3 DMRT1
16 chromosome 9p deletion syndrome 9.9 RLN1 DMRT3 DMRT1
17 hermaphroditism 9.9 DMRT1 AR
18 disorder of sexual development 9.8 NR5A1 DMRT1 AR
19 testicular disease 9.8 KDM4C DMRT1 AR
20 cryptorchidism, unilateral or bilateral 9.8 NR5A1 DMRT1 AR
21 testicular germ cell cancer 9.8 RLN1 DMRT1 AR
22 androgen insensitivity syndrome 9.8 NR5A1 AR
23 testicular germ cell tumor 9.7 DMRT1 AR
24 46,xy sex reversal 9.7 NR5A1 DMRT3 DMRT1 AR
25 premature menopause 9.6 NR5A1 DMRT3 DMRT1 AR
26 germ cell cancer 9.6 RLN1 KDM4C DMRT1 AR
27 male infertility 9.6 ODF2 NR5A1 DMRT1 AR

Graphical network of the top 20 diseases related to Spermatogenic Failure 8:



Diseases related to Spermatogenic Failure 8

Symptoms & Phenotypes for Spermatogenic Failure 8

Human phenotypes related to Spermatogenic Failure 8:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027
2 cryptozoospermia 31 HP:0030974

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
azoospermia
cryptozoospermia
severe oligospermia
moderate oligospermia (rare)
sperm counts less than 1 x 10(6) per ml (in most patients)

Clinical features from OMIM®:

613957 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Spermatogenic Failure 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.43 AQP7 AR DMRT1 KDM4C NR5A1 RLN1
2 reproductive system MP:0005389 9.17 AQP7 AR DMRT1 DMRT3 NR5A1 ODF2

Drugs & Therapeutics for Spermatogenic Failure 8

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 8

Genetic Tests for Spermatogenic Failure 8

Genetic tests related to Spermatogenic Failure 8:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 8 29 NR5A1

Anatomical Context for Spermatogenic Failure 8

Publications for Spermatogenic Failure 8

Articles related to Spermatogenic Failure 8:

# Title Authors PMID Year
1
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. 57 6
20887963 2010
2
Mutations in NR5A1 associated with ovarian insufficiency. 6
19246354 2009

Variations for Spermatogenic Failure 8

ClinVar genetic disease variations for Spermatogenic Failure 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NR5A1 NM_004959.5(NR5A1):c.368G>C (p.Gly123Ala) SNV Pathogenic 12809 rs200163795 GRCh37: 9:127262871-127262871
GRCh38: 9:124500592-124500592
2 NR5A1 NM_004959.5(NR5A1):c.392C>T (p.Pro131Leu) SNV Pathogenic 29894 rs387906690 GRCh37: 9:127262847-127262847
GRCh38: 9:124500568-124500568
3 NR5A1 NM_004959.5(NR5A1):c.634G>A (p.Gly212Ser) SNV Pathogenic 29895 rs201095702 GRCh37: 9:127262605-127262605
GRCh38: 9:124500326-124500326

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 8:

72
# Symbol AA change Variation ID SNP ID
1 NR5A1 p.Gly123Ala VAR_062967 rs200163795
2 NR5A1 p.Pro129Leu VAR_062968 rs200749741
3 NR5A1 p.Pro131Leu VAR_065866 rs387906690
4 NR5A1 p.Arg191Cys VAR_065867 rs125332410
5 NR5A1 p.Gly212Ser VAR_065868 rs201095702
6 NR5A1 p.Asp238Asn VAR_065869 rs780568525

Expression for Spermatogenic Failure 8

Search GEO for disease gene expression data for Spermatogenic Failure 8.

Pathways for Spermatogenic Failure 8

Pathways related to Spermatogenic Failure 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.38 KDM4C AR

GO Terms for Spermatogenic Failure 8

Cellular components related to Spermatogenic Failure 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.02 NR5A1 KDM4C DMRT3 DMRT1 AR
2 sperm flagellum GO:0036126 8.96 TXNDC8 ODF2

Biological processes related to Spermatogenic Failure 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.77 TXNDC8 ODF2 NR5A1 DMRT3 DMRT1
2 positive regulation of gene expression GO:0010628 9.71 RLN2 NR5A1 KDM4C AR
3 male gonad development GO:0008584 9.5 NR5A1 DMRT1 AR
4 intracellular receptor signaling pathway GO:0030522 9.46 NR5A1 AR
5 sex differentiation GO:0007548 9.43 DMRT3 DMRT1
6 spermatogenesis GO:0007283 9.35 TXNDC8 TESK1 ODF2 DMRT1 AR
7 male sex determination GO:0030238 9.26 NR5A1 DMRT1
8 positive regulation of male gonad development GO:2000020 9.16 NR5A1 DMRT1
9 male sex differentiation GO:0046661 8.62 DMRT3 DMRT1

Molecular functions related to Spermatogenic Failure 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.46 NR5A1 DMRT3 DMRT1 AR
2 nuclear receptor activity GO:0004879 9.26 NR5A1 AR
3 sequence-specific DNA binding GO:0043565 9.26 NR5A1 DMRT3 DMRT1 AR
4 chromatin binding GO:0003682 8.92 NR5A1 KDM4C DMRT1 AR

Sources for Spermatogenic Failure 8

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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