SPGF45
MCID: SPR157
MIFTS: 17

Spermatogenic Failure 45 (SPGF45)

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

Aliases & Classifications for Spermatogenic Failure 45

MalaCards integrated aliases for Spermatogenic Failure 45:

Name: Spermatogenic Failure 45 57 12 6
Spgf45 57 12

Characteristics:

OMIM®:

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


HPO:

31
spermatogenic failure 45:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112163
OMIM® 57 619094
OMIM Phenotypic Series 57 PS258150
SNOMED-CT via HPO 68 258211005 2904007

Summaries for Spermatogenic Failure 45

OMIM® : 57 Spermatogenic failure-45 (SPGF45) is characterized by male infertility due to severe teratozoospermia. Sperm in affected men exhibit multiple morphologic abnormalities of the flagella (MMAF), including flagella that are short, absent, coiled, angulated, and/or of irregular caliber; some sperm also show abnormalities of the head. Ultrastructural analysis shows severe disruption of the axonemal complex and mitochondrial sheath (Li et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (619094) (Updated 05-Apr-2021)

MalaCards based summary : Spermatogenic Failure 45, is also known as spgf45. An important gene associated with Spermatogenic Failure 45 is DNAH2 (Dynein Axonemal Heavy Chain 2). Related phenotypes are male infertility and reduced sperm motility

Disease Ontology : 12 A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has material basis in homozygous or compound heterozygous mutation in DNAH2 on chromosome 17p13.1.

Related Diseases for Spermatogenic Failure 45

Symptoms & Phenotypes for Spermatogenic Failure 45

Human phenotypes related to Spermatogenic Failure 45:

31
# Description HPO Frequency HPO Source Accession
1 male infertility 31 very rare (1%) HP:0003251
2 reduced sperm motility 31 very rare (1%) HP:0012207
3 absent sperm flagella 31 very rare (1%) HP:0032558
4 short sperm flagella 31 very rare (1%) HP:0032559
5 coiled sperm flagella 31 very rare (1%) HP:0032560

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
infertility
absent flagella
short flagella
coiled flagella
angulated flagella
more

Clinical features from OMIM®:

619094 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 45

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 45

Genetic Tests for Spermatogenic Failure 45

Anatomical Context for Spermatogenic Failure 45

Publications for Spermatogenic Failure 45

Articles related to Spermatogenic Failure 45:

# Title Authors PMID Year
1
DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella. 6 57
30811583 2019

Variations for Spermatogenic Failure 45

ClinVar genetic disease variations for Spermatogenic Failure 45:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAH2 NM_020877.5(DNAH2):c.9298C>T (p.Arg3100Trp) SNV Pathogenic 984732 GRCh37: 17:7708390-7708390
GRCh38: 17:7805072-7805072
2 DNAH2 NM_020877.5(DNAH2):c.5770C>T (p.Arg1924Cys) SNV Pathogenic 984733 GRCh37: 17:7683522-7683522
GRCh38: 17:7780204-7780204
3 DNAH2 NM_020877.5(DNAH2):c.11500C>T (p.Arg3834Ter) SNV Pathogenic 984734 GRCh37: 17:7727460-7727460
GRCh38: 17:7824142-7824142
4 DNAH2 NM_020877.5(DNAH2):c.6960C>A (p.Ser2320Arg) SNV Pathogenic 984735 GRCh37: 17:7695294-7695294
GRCh38: 17:7791976-7791976
5 DNAH2 NM_020877.5(DNAH2):c.11503T>C (p.Ser3835Pro) SNV Pathogenic 984736 GRCh37: 17:7727463-7727463
GRCh38: 17:7824145-7824145

Expression for Spermatogenic Failure 45

Search GEO for disease gene expression data for Spermatogenic Failure 45.

Pathways for Spermatogenic Failure 45

GO Terms for Spermatogenic Failure 45

Sources for Spermatogenic Failure 45

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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