SPGF20
MCID: SPR114
MIFTS: 21

Spermatogenic Failure 20 (SPGF20)

Categories: Gastrointestinal diseases, 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 72 29 6
Spgf20 57 12 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
spermatogenic failure 20:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070166
OMIM® 57 617593
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 15296000 258211005 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) (Updated 20-May-2021)

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 phenotypes are infertility and absent sperm flagella

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 : 72 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.

Related Diseases for Spermatogenic Failure 20

Symptoms & Phenotypes for Spermatogenic Failure 20

Human phenotypes related to Spermatogenic Failure 20:

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 20-May-2021)
Genitourinary Internal Genitalia Male:
infertility
absent sperm flagella
short sperm flagella
coiled sperm flagella
reduced or absent sperm motility
more

Clinical features from OMIM®:

617593 (Updated 20-May-2021)

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

Articles related to Spermatogenic Failure 20:

# Title Authors PMID Year
1
Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF). 57 6
29277146 2019
2
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. 6 57
29449551 2018
3
Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. 6 57
28552195 2017

Variations for Spermatogenic Failure 20

ClinVar genetic disease variations for Spermatogenic Failure 20:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFAP44 NM_001164496.2(CFAP44):c.2005_2006del (p.Met669fs) Deletion Pathogenic 430938 rs780798708 GRCh37: 3:113099792-113099793
GRCh38: 3:113380945-113380946
2 CFAP44 NM_001164496.1(CFAP44):c.2935_2944del (p.Asp979Terfs) Deletion Pathogenic 523150 rs1553756374 GRCh37: 3:113077713-113077722
GRCh38: 3:113358866-113358875
3 CFAP44 NM_001164496.2(CFAP44):c.1769T>A (p.Leu590Gln) SNV Pathogenic 523151 rs762760856 GRCh37: 3:113115375-113115375
GRCh38: 3:113396528-113396528
4 CFAP44 NM_001164496.2(CFAP44):c.1387G>T (p.Glu463Ter) SNV Pathogenic 523152 rs866096259 GRCh37: 3:113119479-113119479
GRCh38: 3:113400632-113400632
5 CFAP44 NM_001164496.2(CFAP44):c.3175C>T (p.Arg1059Ter) SNV Pathogenic 523153 rs1262272674 GRCh37: 3:113063450-113063450
GRCh38: 3:113344603-113344603
6 CFAP44 NM_001164496.2(CFAP44):c.2818dup (p.Glu940fs) Duplication Pathogenic 523154 rs1553756824 GRCh37: 3:113082107-113082108
GRCh38: 3:113363260-113363261
7 CFAP44-AS1 , CFAP44 NM_001164496.2(CFAP44):c.652del (p.Arg218fs) Deletion Pathogenic 722480 rs772295550 GRCh37: 3:113135393-113135393
GRCh38: 3:113416546-113416546
8 CFAP44-AS1 , CFAP44 NM_001164496.2(CFAP44):c.316T>C (p.Ser106Pro) SNV Uncertain significance 1030243 GRCh37: 3:113145062-113145062
GRCh38: 3:113426215-113426215

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....