SPGF19
MCID: SPR115
MIFTS: 21

Spermatogenic Failure 19 (SPGF19)

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

Aliases & Classifications for Spermatogenic Failure 19

MalaCards integrated aliases for Spermatogenic Failure 19:

Name: Spermatogenic Failure 19 57 12 72 29 6
Spgf19 57 12 72
Spermatogenic Failure, Type 19 39

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 3 unrelated men (last curated july 2017)


HPO:

31
spermatogenic failure 19:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070170
OMIM® 57 617592
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 15296000 258211005 8619003

Summaries for Spermatogenic Failure 19

OMIM® : 57 Spermatogenic failure-19 is characterized by multiple morphologic abnormalities of the flagella (MMAF), 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). (617592) (Updated 20-May-2021)

MalaCards based summary : Spermatogenic Failure 19, is also known as spgf19. An important gene associated with Spermatogenic Failure 19 is CFAP43 (Cilia And Flagella Associated Protein 43). 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 CFAP43 gene on chromosome 10q25.

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 19: An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF19 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility.

Related Diseases for Spermatogenic Failure 19

Symptoms & Phenotypes for Spermatogenic Failure 19

Human phenotypes related to Spermatogenic Failure 19:

31 (showing 4, show less)
# 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
no progressive motility
more

Clinical features from OMIM®:

617592 (Updated 20-May-2021)

Drugs & Therapeutics for Spermatogenic Failure 19

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 19

Genetic Tests for Spermatogenic Failure 19

Genetic tests related to Spermatogenic Failure 19:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 19 29 CFAP43

Anatomical Context for Spermatogenic Failure 19

Publications for Spermatogenic Failure 19

Articles related to Spermatogenic Failure 19:

(showing 3, show less)
# 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 19

ClinVar genetic disease variations for Spermatogenic Failure 19:

6 (showing 13, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFAP43 NM_025145.6(CFAP43):c.2802T>A (p.Cys934Ter) SNV Pathogenic 430933 rs373911488 GRCh37: 10:105927385-105927385
GRCh38: 10:104167627-104167627
2 CFAP43 NM_025145.6(CFAP43):c.253C>T (p.Arg85Trp) SNV Pathogenic 430936 rs376788209 GRCh37: 10:105990414-105990414
GRCh38: 10:104230656-104230656
3 CFAP43 NM_025145.6(CFAP43):c.4132C>T (p.Arg1378Ter) SNV Pathogenic 430934 rs768831533 GRCh37: 10:105903210-105903210
GRCh38: 10:104143452-104143452
4 CFAP43 NM_025145.6(CFAP43):c.386C>A (p.Ser129Tyr) SNV Pathogenic 430935 rs1131692266 GRCh37: 10:105985249-105985249
GRCh38: 10:104225491-104225491
5 CFAP43 NM_025145.6(CFAP43):c.3661-2del Deletion Pathogenic 523144 rs1554861288 GRCh37: 10:105907758-105907758
GRCh38: 10:104148000-104148000
6 CFAP43 NM_025145.6(CFAP43):c.3541-2A>C SNV Pathogenic 523145 rs1554862953 GRCh37: 10:105912486-105912486
GRCh38: 10:104152728-104152728
7 CFAP43 NM_025145.6(CFAP43):c.1238_1239GT[1] (p.Val414fs) Microsatellite Pathogenic 523146 rs753300178 GRCh37: 10:105956663-105956664
GRCh38: 10:104196905-104196906
8 CFAP43 NM_025145.6(CFAP43):c.3352C>T (p.Arg1118Ter) SNV Pathogenic 523147 rs760609580 GRCh37: 10:105921781-105921781
GRCh38: 10:104162023-104162023
9 CFAP43 NM_025145.6(CFAP43):c.1302dup (p.Leu435fs) Duplication Pathogenic 523148 rs1554882484 GRCh37: 10:105953763-105953764
GRCh38: 10:104194005-104194006
10 CFAP43 NM_025145.6(CFAP43):c.1040T>C (p.Val347Ala) SNV Pathogenic 523149 rs147356105 GRCh37: 10:105963485-105963485
GRCh38: 10:104203727-104203727
11 CFAP43 NM_025145.7(CFAP43):c.944del (p.Gly315fs) Deletion Pathogenic 1030905 GRCh37: 10:105965740-105965740
GRCh38: 10:104205982-104205982
12 CFAP43 NM_025145.6(CFAP43):c.3945-263_4431+252del Deletion Pathogenic 430937 GRCh37: 10:105900348-105903660
GRCh38: 10:104140590-104143902
13 CFAP43 NM_025145.7(CFAP43):c.929T>C (p.Val310Ala) SNV Uncertain significance 1030904 GRCh37: 10:105965755-105965755
GRCh38: 10:104205997-104205997

Expression for Spermatogenic Failure 19

Search GEO for disease gene expression data for Spermatogenic Failure 19.

Pathways for Spermatogenic Failure 19

GO Terms for Spermatogenic Failure 19

Sources for Spermatogenic Failure 19

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
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