SPGF20
MCID: SPR114
MIFTS: 19

Spermatogenic Failure 20 (SPGF20)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 20

MalaCards integrated aliases for Spermatogenic Failure 20:

Name: Spermatogenic Failure 20 58 12 76 30 6
Spgf20 58 12 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


Classifications:



External Ids:

Disease Ontology 12 DOID:0070166
OMIM 58 617593
MeSH 45 D007248
SNOMED-CT via HPO 70 15296000 8619003

Summaries for Spermatogenic Failure 20

OMIM : 58 Spermatogenic failure-20 is characterized by multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella (Tang et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (617593)

MalaCards based summary : Spermatogenic Failure 20, is also known as spgf20. An important gene associated with Spermatogenic Failure 20 is CFAP44 (Cilia And Flagella Associated Protein 44). Related phenotype is infertility.

Disease Ontology : 12 A male infertility characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has material basis in mutation in the CFAP44 gene on chromosome 3q13.

UniProtKB/Swiss-Prot : 76 Spermatogenic failure 20: An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF20 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility.

Symptoms & Phenotypes for Spermatogenic Failure 20

Human phenotypes related to Spermatogenic Failure 20:

33
# Description HPO Frequency HPO Source Accession
1 infertility 33 HP:0000789

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
infertility
reduced or absent sperm motility
absent sperm flagella
short sperm flagella
bent sperm flagella
more

Clinical features from OMIM:

617593

Drugs & Therapeutics for Spermatogenic Failure 20

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 20

Genetic Tests for Spermatogenic Failure 20

Genetic tests related to Spermatogenic Failure 20:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 20 30 CFAP44

Anatomical Context for Spermatogenic Failure 20

Publications for Spermatogenic Failure 20

Articles related to Spermatogenic Failure 20:

# Title Authors Year
1
Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF). ( 29277146 )
2019
2
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. ( 29449551 )
2018
3
Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. ( 28552195 )
2017

Variations for Spermatogenic Failure 20

ClinVar genetic disease variations for Spermatogenic Failure 20:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 CFAP44 NM_018338.3(CFAP44): c.2005_2006delAT (p.Met669Valfs) deletion Pathogenic rs780798708 GRCh37 Chromosome 3, 113099792: 113099793
2 CFAP44 NM_018338.3(CFAP44): c.2005_2006delAT (p.Met669Valfs) deletion Pathogenic rs780798708 GRCh38 Chromosome 3, 113380945: 113380946
3 CFAP44 NM_001164496.1(CFAP44): c.2935_2944del (p.Asp979Terfs) deletion Pathogenic rs1553756374 GRCh38 Chromosome 3, 113358866: 113358875
4 CFAP44 NM_001164496.1(CFAP44): c.2935_2944del (p.Asp979Terfs) deletion Pathogenic rs1553756374 GRCh37 Chromosome 3, 113077713: 113077722
5 CFAP44 NM_001164496.1(CFAP44): c.1769T> A (p.Leu590Gln) single nucleotide variant Pathogenic rs762760856 GRCh37 Chromosome 3, 113115375: 113115375
6 CFAP44 NM_001164496.1(CFAP44): c.1769T> A (p.Leu590Gln) single nucleotide variant Pathogenic rs762760856 GRCh38 Chromosome 3, 113396528: 113396528
7 CFAP44 NM_001164496.1(CFAP44): c.1387G> T (p.Glu463Ter) single nucleotide variant Pathogenic rs866096259 GRCh37 Chromosome 3, 113119479: 113119479
8 CFAP44 NM_001164496.1(CFAP44): c.1387G> T (p.Glu463Ter) single nucleotide variant Pathogenic rs866096259 GRCh38 Chromosome 3, 113400632: 113400632
9 CFAP44 NM_001164496.1(CFAP44): c.3175C> T (p.Arg1059Ter) single nucleotide variant Pathogenic rs1262272674 GRCh37 Chromosome 3, 113063450: 113063450
10 CFAP44 NM_001164496.1(CFAP44): c.3175C> T (p.Arg1059Ter) single nucleotide variant Pathogenic rs1262272674 GRCh38 Chromosome 3, 113344603: 113344603
11 CFAP44 NM_001164496.1(CFAP44): c.2818dup (p.Glu940Glyfs) duplication Pathogenic rs1553756824 GRCh37 Chromosome 3, 113082108: 113082108
12 CFAP44 NM_001164496.1(CFAP44): c.2818dup (p.Glu940Glyfs) duplication Pathogenic rs1553756824 GRCh38 Chromosome 3, 113363261: 113363261

Expression for Spermatogenic Failure 20

Search GEO for disease gene expression data for Spermatogenic Failure 20.

Pathways for Spermatogenic Failure 20

GO Terms for Spermatogenic Failure 20

Sources for Spermatogenic Failure 20

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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