SPGF8
MCID: SPR042
MIFTS: 20

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 57 12 74 29 13 6 72
Spgf8 57 12 74
Spermatogenic Failure, Type 8 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32

Classifications:



External Ids:

Disease Ontology 12 DOID:0070169
MeSH 44 D007248
MedGen 42 C3151406
UMLS 72 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, is also known as spgf8. An important gene associated with Spermatogenic Failure 8 is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1). Related phenotypes are azoospermia and cryptozoospermia

UniProtKB/Swiss-Prot : 74 Spermatogenic failure 8: An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia.

More information from OMIM: 613957 PS258150

Symptoms & Phenotypes for Spermatogenic Failure 8

Human phenotypes related to Spermatogenic Failure 8:

32 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 cryptozoospermia 32 HP:0030974

Symptoms via clinical synopsis from OMIM:

57
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

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:

(showing 2, show less)
# Title Authors PMID Year
1
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. 8 71
20887963 2010
2
Mutations in NR5A1 associated with ovarian insufficiency. 71
19246354 2009

Variations for Spermatogenic Failure 8

ClinVar genetic disease variations for Spermatogenic Failure 8:

6 (showing 4, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NR5A1 NM_004959.5(NR5A1): c.392C> T (p.Pro131Leu) single nucleotide variant Pathogenic rs387906690 9:127262847-127262847 9:124500568-124500568
2 NR5A1 NM_004959.5(NR5A1): c.634G> A (p.Gly212Ser) single nucleotide variant Pathogenic rs201095702 9:127262605-127262605 9:124500326-124500326
3 NR5A1 NM_004959.5(NR5A1): c.368G> C (p.Gly123Ala) single nucleotide variant no interpretation for the single variant rs200163795 9:127262871-127262871 9:124500592-124500592
4 NR5A1 NM_004959.5(NR5A1): c.386C> T (p.Pro129Leu) single nucleotide variant no interpretation for the single variant rs200749741 9:127262853-127262853 9:124500574-124500574

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

74 (showing 6, show less)
# 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

GO Terms for Spermatogenic Failure 8

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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