SPGF32
MCID: SPR135
MIFTS: 16

Spermatogenic Failure 32 (SPGF32)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 32

MalaCards integrated aliases for Spermatogenic Failure 32:

Name: Spermatogenic Failure 32 58 76 6
Spgf32 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 58 618115
MeSH 45 D007248
MedGen 43 CN253828

Summaries for Spermatogenic Failure 32

OMIM : 58 Spermatogenic failure-32 is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy has shown absence of spermatogenic cells and a Sertoli cell-only pattern (Choi et al., 2010). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see 258150. (618115)

MalaCards based summary : Spermatogenic Failure 32, is also known as spgf32. An important gene associated with Spermatogenic Failure 32 is SOHLH1 (Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 1). Related phenotypes are azoospermia and infertility

UniProtKB/Swiss-Prot : 76 Spermatogenic failure 32: An autosomal dominant infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia.

Symptoms & Phenotypes for Spermatogenic Failure 32

Human phenotypes related to Spermatogenic Failure 32:

33
# Description HPO Frequency HPO Source Accession
1 azoospermia 33 HP:0000027
2 infertility 33 HP:0000789

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
infertility
nonobstructive azoospermia
no spermatogenic cells seen on testicular biopsy
sertoli cell-only pattern seen on testicular biopsy

Clinical features from OMIM:

618115

Drugs & Therapeutics for Spermatogenic Failure 32

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 32

Genetic Tests for Spermatogenic Failure 32

Anatomical Context for Spermatogenic Failure 32

Publications for Spermatogenic Failure 32

Variations for Spermatogenic Failure 32

ClinVar genetic disease variations for Spermatogenic Failure 32:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SOHLH1 NM_001012415.2(SOHLH1): c.346-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 9, 138589474: 138589474
2 SOHLH1 NM_001012415.2(SOHLH1): c.346-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 9, 135697628: 135697628

Expression for Spermatogenic Failure 32

Search GEO for disease gene expression data for Spermatogenic Failure 32.

Pathways for Spermatogenic Failure 32

GO Terms for Spermatogenic Failure 32

Sources for Spermatogenic Failure 32

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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