SPGF32
MCID: SPR135
MIFTS: 18

Spermatogenic Failure 32 (SPGF32)

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

Aliases & Classifications for Spermatogenic Failure 32

MalaCards integrated aliases for Spermatogenic Failure 32:

Name: Spermatogenic Failure 32 57 12 72 29 6
Spgf32 57 12 72
Spermatogenic Failure, Type 32 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
spermatogenic failure 32:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111925
OMIM® 57 618115
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248

Summaries for Spermatogenic Failure 32

OMIM® : 57 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) (Updated 05-Apr-2021)

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). Affiliated tissues include testes, and related phenotypes are azoospermia and infertility

Disease Ontology : 12 A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has material basis in heterozygous mutation in SOHLH1 on chromosome 9q34.3.

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 32: An autosomal dominant infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia.

Related Diseases for Spermatogenic Failure 32

Symptoms & Phenotypes for Spermatogenic Failure 32

Human phenotypes related to Spermatogenic Failure 32:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027
2 infertility 31 HP:0000789

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 32

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 32

Genetic Tests for Spermatogenic Failure 32

Genetic tests related to Spermatogenic Failure 32:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 32 29 SOHLH1

Anatomical Context for Spermatogenic Failure 32

MalaCards organs/tissues related to Spermatogenic Failure 32:

40
Testes

Publications for Spermatogenic Failure 32

Articles related to Spermatogenic Failure 32:

# Title Authors PMID Year
1
Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations. 57 6
28718531 2017
2
Mutations in SOHLH1 gene associate with nonobstructive azoospermia. 57 6
20506135 2010

Variations for Spermatogenic Failure 32

ClinVar genetic disease variations for Spermatogenic Failure 32:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOHLH1 NM_001101677.2(SOHLH1):c.346-1G>A SNV Pathogenic 560884 rs140132974 GRCh37: 9:138589474-138589474
GRCh38: 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
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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