SPGF33
MCID: SPR136
MIFTS: 20

Spermatogenic Failure 33 (SPGF33)

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

Aliases & Classifications for Spermatogenic Failure 33

MalaCards integrated aliases for Spermatogenic Failure 33:

Name: Spermatogenic Failure 33 57 12 72 29 6
Spgf33 57 12 72
Spermatogenic Failure, Type 33 39

Characteristics:

OMIM®:

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


HPO:

31
spermatogenic failure 33:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111915
OMIM® 57 618152
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 15296000 258211005 8619003

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) (Updated 05-Apr-2021)

MalaCards based summary : Spermatogenic Failure 33, is also known as spgf33. An important gene associated with Spermatogenic Failure 33 is CFAP251 (Cilia And Flagella Associated Protein 251). Related phenotypes are infertility and absent sperm flagella

Disease Ontology : 12 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has material basis in homozygous or compound heterozygous mutation in WDR66 on chromosome 12q24.31.

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Spermatogenic Failure 33

Symptoms & Phenotypes for Spermatogenic Failure 33

Human phenotypes related to Spermatogenic Failure 33:

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789
2 absent sperm flagella 31 HP:0032558
3 short sperm flagella 31 HP:0032559
4 coiled sperm flagella 31 HP:0032560

Symptoms via clinical synopsis from OMIM®:

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

Drugs & Therapeutics for Spermatogenic Failure 33

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 33

Genetic Tests for Spermatogenic Failure 33

Genetic tests related to Spermatogenic Failure 33:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 33 29 CFAP251

Anatomical Context for Spermatogenic Failure 33

Publications for Spermatogenic Failure 33

Articles related to Spermatogenic Failure 33:

# Title Authors PMID Year
1
Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men. 6 57
30122541 2018
2
A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility. 57 6
30122540 2018

Variations for Spermatogenic Failure 33

ClinVar genetic disease variations for Spermatogenic Failure 33:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFAP251 NM_144668.6(CFAP251):c.3007-4915_3338-930del Deletion Pathogenic 586974 GRCh37: 12:122432707-122440628
GRCh38: 12:121994801-122002722
2 CFAP251 NM_144668.6(CFAP251):c.123del (p.Asp42fs) Deletion Pathogenic 548450 rs749163856 GRCh37: 12:122359331-122359331
GRCh38: 12:121921425-121921425
3 CFAP251 NM_144668.6(CFAP251):c.1588_1589del (p.Leu530fs) Deletion Pathogenic 545693 rs1565912409 GRCh37: 12:122395032-122395033
GRCh38: 12:121957126-121957127
4 CFAP251 NM_144668.6(CFAP251):c.331G>T (p.Glu111Ter) SNV Pathogenic 548449 rs199671406 GRCh37: 12:122359542-122359542
GRCh38: 12:121921636-121921636

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
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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