SPGF20
MCID: SPR114
MIFTS: 17

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 57 12 75 29 6
Spgf20 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 57 617593
Disease Ontology 12 DOID:0070166
MeSH 44 D007248
SNOMED-CT via HPO 69 15296000 8619003

Summaries for Spermatogenic Failure 20

OMIM : 57 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spermatogenic Failure 20:

32
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789

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 29 CFAP44

Anatomical Context for Spermatogenic Failure 20

Publications for Spermatogenic Failure 20

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 GRCh38 Chromosome 3, 113358866: 113358875
4 CFAP44 NM_001164496.1(CFAP44): c.2935_2944del (p.Asp979Terfs) deletion Pathogenic 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 GRCh37 Chromosome 3, 113063450: 113063450
10 CFAP44 NM_001164496.1(CFAP44): c.3175C> T (p.Arg1059Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 113344603: 113344603
11 CFAP44 NM_001164496.1(CFAP44): c.2818dup (p.Glu940Glyfs) duplication Pathogenic GRCh37 Chromosome 3, 113082108: 113082108
12 CFAP44 NM_001164496.1(CFAP44): c.2818dup (p.Glu940Glyfs) duplication Pathogenic 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 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
Content
Loading form....