SPGF33
MCID: SPR136
MIFTS: 16

Spermatogenic Failure 33 (SPGF33)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 33

MalaCards integrated aliases for Spermatogenic Failure 33:

Name: Spermatogenic Failure 33 58 76 6
Spgf33 58 76
Spermatogenic Failure, Type 33 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 58 618152
MeSH 45 D007248

Summaries for Spermatogenic Failure 33

OMIM : 58 Spermatogenic failure-33 is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Short and irregular-caliber flagella are primarily observed, as well as absent and coiled flagella, and abnormalities of the acrosome, head, and base are also present (Kherraf et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618152)

MalaCards based summary : Spermatogenic Failure 33, is also known as spgf33. An important gene associated with Spermatogenic Failure 33 is WDR66 (WD Repeat Domain 66).

UniProtKB/Swiss-Prot : 76 Spermatogenic failure 33: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum, including short, bent, curled, thick, or absent flagella.

Symptoms & Phenotypes for Spermatogenic Failure 33

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
infertility
absent sperm flagella
short sperm flagella
coiled sperm flagella
irregular width of sperm flagella
more

Clinical features from OMIM:

618152

Drugs & Therapeutics for Spermatogenic Failure 33

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 33

Genetic Tests for Spermatogenic Failure 33

Anatomical Context for Spermatogenic Failure 33

Publications for Spermatogenic Failure 33

Variations for Spermatogenic Failure 33

ClinVar genetic disease variations for Spermatogenic Failure 33:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR66 NM_144668.5(WDR66): c.1588_1589delCT (p.Leu530Valfs) deletion Pathogenic GRCh37 Chromosome 12, 122395032: 122395033
2 WDR66 NM_144668.5(WDR66): c.1588_1589delCT (p.Leu530Valfs) deletion Pathogenic GRCh38 Chromosome 12, 121957126: 121957127
3 WDR66 NM_144668.5(WDR66): c.331G> T (p.Glu111Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 122359542: 122359542
4 WDR66 NM_144668.5(WDR66): c.331G> T (p.Glu111Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 121921636: 121921636
5 WDR66 NM_144668.5(WDR66): c.123delA (p.Asp42Metfs) deletion Pathogenic GRCh38 Chromosome 12, 121921428: 121921428
6 WDR66 NM_144668.5(WDR66): c.123delA (p.Asp42Metfs) deletion Pathogenic GRCh37 Chromosome 12, 122359334: 122359334
7 WDR66 NG_021364.1: g.81245_89166del deletion Pathogenic

Expression for Spermatogenic Failure 33

Search GEO for disease gene expression data for Spermatogenic Failure 33.

Pathways for Spermatogenic Failure 33

GO Terms for Spermatogenic Failure 33

Sources for Spermatogenic Failure 33

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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