SPGF8
MCID: SPR042
MIFTS: 32

Spermatogenic Failure 8 (SPGF8)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 8

MalaCards integrated aliases for Spermatogenic Failure 8:

Name: Spermatogenic Failure 8 56 12 73 29 13 6 15 71
Spgf8 56 12 73
Spermatogenic Failure, Type 8 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31

Classifications:



External Ids:

Disease Ontology 12 DOID:0070169
OMIM 56 613957
OMIM Phenotypic Series 56 PS258150
MeSH 43 D007248
MedGen 41 C3151406
UMLS 71 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 : 73 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

Diseases related to Spermatogenic Failure 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# 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 spermatocytoma 10.1 DMRT3 DMRT1
5 46,xy sex reversal 9 10.0 NR5A1 AR
6 46,xx sex reversal 10.0 NR5A1 DMRT1
7 persistent mullerian duct syndrome 10.0 NR5A1 DMRT1
8 gonadoblastoma 9.9 NR5A1 DMRT3 DMRT1
9 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.9 NR5A1 DMRT3 DMRT1
10 sertoli cell tumor 9.9 NR5A1 AR
11 chromosome 9p deletion syndrome 9.9 RLN1 DMRT3 DMRT1
12 hermaphroditism 9.8 DMRT1 AR
13 androgen insensitivity syndrome 9.8 NR5A1 AR
14 disorders of sexual development 9.7 NR5A1 DMRT1 AR
15 testicular disease 9.7 KDM4C DMRT1 AR
16 testicular germ cell cancer 9.7 RLN1 DMRT1 AR
17 premature ovarian failure 1 9.7 NR5A1 DMRT1 AR
18 cryptorchidism, unilateral or bilateral 9.7 NR5A1 DMRT1 AR
19 infertility 9.6 ODF2 NR5A1 AR
20 male infertility 9.6 NR5A1 DMRT1 AR
21 46,xy sex reversal 9.5 NR5A1 DMRT3 DMRT1 AR
22 germ cell cancer 9.5 RLN1 KDM4C DMRT1 AR
23 testicular germ cell tumor 9.5 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:

56
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

MGI Mouse Phenotypes related to Spermatogenic Failure 8:

45
# 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. 6 56
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 GRCh37 Pos GRCh38 Pos
1 NR5A1 NM_004959.5(NR5A1):c.392C>T (p.Pro131Leu)SNV Pathogenic 29894 rs387906690 9:127262847-127262847 9:124500568-124500568
2 NR5A1 NM_004959.5(NR5A1):c.634G>A (p.Gly212Ser)SNV Pathogenic 29895 rs201095702 9:127262605-127262605 9:124500326-124500326
3 NR5A1 NM_004959.5(NR5A1):c.368G>C (p.Gly123Ala)SNV no interpretation for the single variant 242792 rs200163795 9:127262871-127262871 9:124500592-124500592
4 NR5A1 NM_004959.5(NR5A1):c.386C>T (p.Pro129Leu)SNV no interpretation for the single variant 242720 rs200749741 9:127262853-127262853 9:124500574-124500574

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

73
# 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 nuclear chromatin GO:0000790 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 steroid hormone mediated signaling pathway GO:0043401 9.48 NR5A1 AR
4 intracellular receptor signaling pathway GO:0030522 9.46 NR5A1 AR
5 sex differentiation GO:0007548 9.43 DMRT3 DMRT1
6 male gonad development GO:0008584 9.43 NR5A1 DMRT1 AR
7 male sex determination GO:0030238 9.32 NR5A1 DMRT1
8 positive regulation of male gonad development GO:2000020 9.16 NR5A1 DMRT1
9 spermatogenesis GO:0007283 9.02 TXNDC8 TESK1 ODF2 DMRT1 AR
10 male sex differentiation GO:0046661 8.96 DMRT3 DMRT1

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

# Name GO ID Score Top Affiliating Genes
1 steroid hormone receptor activity GO:0003707 9.26 NR5A1 AR
2 sequence-specific DNA binding GO:0043565 9.26 NR5A1 DMRT3 DMRT1 AR
3 nuclear receptor activity GO:0004879 9.16 NR5A1 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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