SPGF39
MCID: SPR149
MIFTS: 16

Spermatogenic Failure 39 (SPGF39)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 39

MalaCards integrated aliases for Spermatogenic Failure 39:

Name: Spermatogenic Failure 39 56 6
Spgf39 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 56 618643
OMIM Phenotypic Series 56 PS258150

Summaries for Spermatogenic Failure 39

OMIM : 56 Spermatogenic failure-39 (SPGF39) is characterized by infertility due to asthenozoospermia. Patient spermatozoa exhibit multiple morphologic anomalies of the sperm flagellum (MMAF), including short, absent, irregularly shaped, and coiled flagella; abnormalities of the sperm head and midpiece have also been observed. Ultrastructural analysis shows a lack of the outer dynein arms (ODAs) in sperm cells (Whitfield et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618643)

MalaCards based summary : Spermatogenic Failure 39, is also known as spgf39. An important gene associated with Spermatogenic Failure 39 is DNAH17 (Dynein Axonemal Heavy Chain 17).

Symptoms & Phenotypes for Spermatogenic Failure 39

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
infertility
absence of outer dynein arms
coiled flagella
severely reduced to no progressive motility
tapered head
more

Clinical features from OMIM:

618643

Drugs & Therapeutics for Spermatogenic Failure 39

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 39

Genetic Tests for Spermatogenic Failure 39

Anatomical Context for Spermatogenic Failure 39

Publications for Spermatogenic Failure 39

Articles related to Spermatogenic Failure 39:

# Title Authors PMID Year
1
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia. 56 6
31178125 2019

Variations for Spermatogenic Failure 39

ClinVar genetic disease variations for Spermatogenic Failure 39:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAH17 NM_173628.4(DNAH17):c.5486G>A (p.Cys1829Tyr)SNV Pathogenic 692266 17:76496541-76496541 17:78500459-78500459
2 DNAH17 NM_173628.4(DNAH17):c.1291_1292TA[1] (p.Tyr431_Lys432delinsTer)short repeat Pathogenic 692267 17:76563239-76563240 17:78567157-78567158
3 DNAH17 NM_173628.4(DNAH17):c.7994_8012del (p.Gly2665fs)deletion Pathogenic 692268 17:76472796-76472814 17:78476714-78476732
4 DNAH17 NM_173628.4(DNAH17):c.10496C>T (p.Pro3499Leu)SNV no interpretation for the single variant 692326 17:76449458-76449458 17:78453376-78453376
5 DNAH17 NM_173628.4(DNAH17):c.10784T>C (p.Leu3595Pro)SNV no interpretation for the single variant 692327 17:76446879-76446879 17:78450797-78450797

Expression for Spermatogenic Failure 39

Search GEO for disease gene expression data for Spermatogenic Failure 39.

Pathways for Spermatogenic Failure 39

GO Terms for Spermatogenic Failure 39

Sources for Spermatogenic Failure 39

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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