MCID: SPR115
MIFTS: 15

Spermatogenic Failure 19

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 19

MalaCards integrated aliases for Spermatogenic Failure 19:

Name: Spermatogenic Failure 19 57 75 6
Spgf19 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617592
MeSH 44 D007248

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)

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).

UniProtKB/Swiss-Prot : 75 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.

Symptoms & Phenotypes for Spermatogenic Failure 19

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
infertility
reduced or absent sperm motility
no progressive motility
morphologic defects of most sperm flagella
absent sperm flagella
more

Clinical features from OMIM:

617592

Drugs & Therapeutics for Spermatogenic Failure 19

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 19

Genetic Tests for Spermatogenic Failure 19

Anatomical Context for Spermatogenic Failure 19

Publications for Spermatogenic Failure 19

Variations for Spermatogenic Failure 19

ClinVar genetic disease variations for Spermatogenic Failure 19:

6
(show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 CFAP43 NM_025145.6(CFAP43): c.4132C> T (p.Arg1378Ter) single nucleotide variant Pathogenic rs768831533 GRCh38 Chromosome 10, 104143452: 104143452
2 CFAP43 NM_025145.6(CFAP43): c.2802T> A (p.Cys934Ter) single nucleotide variant Pathogenic rs373911488 GRCh38 Chromosome 10, 104167627: 104167627
3 CFAP43 NM_025145.6(CFAP43): c.2802T> A (p.Cys934Ter) single nucleotide variant Pathogenic rs373911488 GRCh37 Chromosome 10, 105927385: 105927385
4 CFAP43 NM_025145.6(CFAP43): c.4132C> T (p.Arg1378Ter) single nucleotide variant Pathogenic rs768831533 GRCh37 Chromosome 10, 105903210: 105903210
5 CFAP43 NM_025145.6(CFAP43): c.386C> A (p.Ser129Tyr) single nucleotide variant Pathogenic rs1131692266 GRCh37 Chromosome 10, 105985249: 105985249
6 CFAP43 NM_025145.6(CFAP43): c.386C> A (p.Ser129Tyr) single nucleotide variant Pathogenic rs1131692266 GRCh38 Chromosome 10, 104225491: 104225491
7 CFAP43 NM_025145.6(CFAP43): c.253C> T (p.Arg85Trp) single nucleotide variant Pathogenic rs376788209 GRCh38 Chromosome 10, 104230656: 104230656
8 CFAP43 NM_025145.6(CFAP43): c.253C> T (p.Arg85Trp) single nucleotide variant Pathogenic rs376788209 GRCh37 Chromosome 10, 105990414: 105990414
9 CFAP43 NG_051581.1: g.93474_96786del deletion Pathogenic
10 CFAP43 NM_025145.6(CFAP43): c.3661-2del deletion Pathogenic GRCh38 Chromosome 10, 104148000: 104148000
11 CFAP43 NM_025145.6(CFAP43): c.3661-2del deletion Pathogenic GRCh37 Chromosome 10, 105907758: 105907758
12 CFAP43 NM_025145.6(CFAP43): c.3541-2A> C single nucleotide variant Pathogenic GRCh38 Chromosome 10, 104152728: 104152728
13 CFAP43 NM_025145.6(CFAP43): c.3541-2A> C single nucleotide variant Pathogenic GRCh37 Chromosome 10, 105912486: 105912486
14 CFAP43 NM_025145.6(CFAP43): c.1240_1241delGT (p.Val414Leufs) deletion Pathogenic GRCh38 Chromosome 10, 104196905: 104196906
15 CFAP43 NM_025145.6(CFAP43): c.1240_1241delGT (p.Val414Leufs) deletion Pathogenic GRCh37 Chromosome 10, 105956663: 105956664
16 CFAP43 NM_025145.6(CFAP43): c.3352C> T (p.Arg1118Ter) single nucleotide variant Pathogenic rs760609580 GRCh37 Chromosome 10, 105921781: 105921781
17 CFAP43 NM_025145.6(CFAP43): c.3352C> T (p.Arg1118Ter) single nucleotide variant Pathogenic rs760609580 GRCh38 Chromosome 10, 104162023: 104162023
18 CFAP43 NM_025145.6(CFAP43): c.1302dup (p.Leu435Serfs) duplication Pathogenic GRCh38 Chromosome 10, 104194006: 104194006
19 CFAP43 NM_025145.6(CFAP43): c.1302dup (p.Leu435Serfs) duplication Pathogenic GRCh37 Chromosome 10, 105953764: 105953764
20 CFAP43 NM_025145.6(CFAP43): c.1040T> C (p.Val347Ala) single nucleotide variant Pathogenic rs147356105 GRCh37 Chromosome 10, 105963485: 105963485
21 CFAP43 NM_025145.6(CFAP43): c.1040T> C (p.Val347Ala) single nucleotide variant Pathogenic rs147356105 GRCh38 Chromosome 10, 104203727: 104203727

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 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
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