MCID: SPR136
MIFTS: 11

Spermatogenic Failure 33

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 33

MalaCards integrated aliases for Spermatogenic Failure 33:

Name: Spermatogenic Failure 33 57 6
Spgf33 57

Classifications:



External Ids:

OMIM 57 618152

Summaries for Spermatogenic Failure 33

OMIM : 57 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).

Symptoms & Phenotypes for Spermatogenic Failure 33

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 rs199671406 GRCh37 Chromosome 12, 122359542: 122359542
4 WDR66 NM_144668.5(WDR66): c.331G> T (p.Glu111Ter) single nucleotide variant Pathogenic rs199671406 GRCh38 Chromosome 12, 121921636: 121921636
5 WDR66 NM_144668.5(WDR66): c.123delA (p.Asp42Metfs) deletion Pathogenic rs749163856 GRCh38 Chromosome 12, 121921428: 121921428
6 WDR66 NM_144668.5(WDR66): c.123delA (p.Asp42Metfs) deletion Pathogenic rs749163856 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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