SPGF49
MCID: SPR161
MIFTS: 16

Spermatogenic Failure 49 (SPGF49)

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

Aliases & Classifications for Spermatogenic Failure 49

MalaCards integrated aliases for Spermatogenic Failure 49:

Name: Spermatogenic Failure 49 57 12 6
Spgf49 57
Spgf98 12

Characteristics:

HPO:

31
spermatogenic failure 49:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0112271
OMIM® 57 619144
OMIM Phenotypic Series 57 PS258150
SNOMED-CT via HPO 68 258211005 2904007

Summaries for Spermatogenic Failure 49

OMIM® : 57 Spermatogenic failure-49 (SPGF49) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), primarily coiled and short flagella, with markedly reduced or no progressive motility (He et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150. (619144) (Updated 05-Apr-2021)

MalaCards based summary : Spermatogenic Failure 49, is also known as spgf49. An important gene associated with Spermatogenic Failure 49 is CFAP58 (Cilia And Flagella Associated Protein 58). Related phenotypes are male infertility and reduced sperm motility

Disease Ontology : 12 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has material basis in homozygous or compound heterozygous mutation in CFAP58 on chromosome 10q25.1.

Related Diseases for Spermatogenic Failure 49

Symptoms & Phenotypes for Spermatogenic Failure 49

Human phenotypes related to Spermatogenic Failure 49:

31
# Description HPO Frequency HPO Source Accession
1 male infertility 31 very rare (1%) HP:0003251
2 reduced sperm motility 31 very rare (1%) HP:0012207
3 absent sperm flagella 31 very rare (1%) HP:0032558
4 short sperm flagella 31 very rare (1%) HP:0032559
5 coiled sperm flagella 31 very rare (1%) HP:0032560

Clinical features from OMIM®:

619144 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 49

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 49

Genetic Tests for Spermatogenic Failure 49

Anatomical Context for Spermatogenic Failure 49

Publications for Spermatogenic Failure 49

Articles related to Spermatogenic Failure 49:

# Title Authors PMID Year
1
Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice. 6 57
32791035 2020

Variations for Spermatogenic Failure 49

ClinVar genetic disease variations for Spermatogenic Failure 49:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFAP58 NM_001008723.2(CFAP58):c.2092C>T (p.Arg698Ter) SNV Pathogenic 992189 GRCh37: 10:106163539-106163539
GRCh38: 10:104403781-104403781
2 CFAP58 NM_001008723.2(CFAP58):c.2052del (p.His685fs) Deletion Pathogenic 992191 GRCh37: 10:106163494-106163494
GRCh38: 10:104403736-104403736
3 CFAP58 NM_001008723.2(CFAP58):c.1696C>T (p.Gln566Ter) SNV Pathogenic 992192 GRCh37: 10:106159139-106159139
GRCh38: 10:104399381-104399381
4 CFAP58 NM_001008723.2(CFAP58):c.2274C>A (p.Tyr758Ter) SNV Pathogenic 992193 GRCh37: 10:106207473-106207473
GRCh38: 10:104447715-104447715
5 CFAP58 NM_001008723.2(CFAP58):c.1429del (p.Lys476_Ile477insTer) Deletion Pathogenic 992190 GRCh37: 10:106152048-106152048
GRCh38: 10:104392290-104392290

Expression for Spermatogenic Failure 49

Search GEO for disease gene expression data for Spermatogenic Failure 49.

Pathways for Spermatogenic Failure 49

GO Terms for Spermatogenic Failure 49

Sources for Spermatogenic Failure 49

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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