SPGF51
MCID: SPR163
MIFTS: 16

Spermatogenic Failure 51 (SPGF51)

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

Aliases & Classifications for Spermatogenic Failure 51

MalaCards integrated aliases for Spermatogenic Failure 51:

Name: Spermatogenic Failure 51 57 12 6
Spgf51 57 12

Characteristics:

OMIM®:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0112273
OMIM® 57 619177
OMIM Phenotypic Series 57 PS258150

Summaries for Spermatogenic Failure 51

OMIM® : 57 Spermatogenic failure-51 (SPGF51) is characterized by male infertility due to severe asthenoteratozoospermia. Patients exhibit multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Abnormalities of the sperm head, base, and acrosome have also been observed (Martinez et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (619177) (Updated 05-Apr-2021)

MalaCards based summary : Spermatogenic Failure 51, is also known as spgf51. An important gene associated with Spermatogenic Failure 51 is CFAP91 (Cilia And Flagella Associated Protein 91).

Disease Ontology : 12 A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has material basis in homozygous or compound heterozygous mutation in CFAP91 on chromosome 3q13.33.

Related Diseases for Spermatogenic Failure 51

Symptoms & Phenotypes for Spermatogenic Failure 51

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
infertility
microcephalic sperm head
tapered sperm head
asthenoteratozoospermia
absent flagella
more

Clinical features from OMIM®:

619177 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 51

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 51

Genetic Tests for Spermatogenic Failure 51

Anatomical Context for Spermatogenic Failure 51

Publications for Spermatogenic Failure 51

Articles related to Spermatogenic Failure 51:

# Title Authors PMID Year
1
Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility. 57 6
32161152 2020

Variations for Spermatogenic Failure 51

ClinVar genetic disease variations for Spermatogenic Failure 51:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFAP91 NM_033364.4(CFAP91):c.682+1G>A SNV Pathogenic 812095 rs147597066 GRCh37: 3:119434591-119434591
GRCh38: 3:119715744-119715744
2 CFAP91 NM_033364.4(CFAP91):c.124G>C (p.Asp42His) SNV Pathogenic 812096 rs149348782 GRCh37: 3:119422069-119422069
GRCh38: 3:119703222-119703222

Expression for Spermatogenic Failure 51

Search GEO for disease gene expression data for Spermatogenic Failure 51.

Pathways for Spermatogenic Failure 51

GO Terms for Spermatogenic Failure 51

Sources for Spermatogenic Failure 51

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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