SPGF18
MCID: SPR113
MIFTS: 32

Spermatogenic Failure 18 (SPGF18)

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

Aliases & Classifications for Spermatogenic Failure 18

MalaCards integrated aliases for Spermatogenic Failure 18:

Name: Spermatogenic Failure 18 57 12 72 29 6
Spgf18 57 12 72
Spermatogenic Failure, Type 18 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
homozygous females appear to be unaffected (1 such individual reported)
affected males do not exhibit any other features of primary ciliary dyskinesia


HPO:

31
spermatogenic failure 18:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070165
OMIM® 57 617576
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 15296000 258211005 8619003

Summaries for Spermatogenic Failure 18

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 18: An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF18 patients present with primary infertility and multiple morphological abnormalities of sperm flagella that result in impaired sperm mobility. Abnormalities include absent, short, coiled, bent, and irregular flagella. SPGF18 inheritance is autosomal recessive.

MalaCards based summary : Spermatogenic Failure 18, also known as spgf18, is related to male infertility and male infertility due to sperm motility disorder. An important gene associated with Spermatogenic Failure 18 is DNAH1 (Dynein Axonemal Heavy Chain 1). Related phenotypes are infertility and absent sperm flagella

Disease Ontology : 12 A male infertility characterized by sperm flagellar morphological abnormalities that has material basis in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21.

OMIM® : 57 Spermatogenic failure-18 is a form of male infertility caused by multiple morphologic abnormalities of the sperm flagella (Ben Khelifa et al., 2014). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (617576) (Updated 05-Apr-2021)

Related Diseases for Spermatogenic Failure 18

Diseases in the Spermatogenic Failure 6 family:

Spermatogenic Failure 2 Spermatogenic Failure 5
Spermatogenic Failure 1 Spermatogenic Failure 4
Spermatogenic Failure 3 Spermatogenic Failure 7
Spermatogenic Failure 8 Spermatogenic Failure 9
Spermatogenic Failure 10 Spermatogenic Failure 11
Spermatogenic Failure 12 Spermatogenic Failure 13
Spermatogenic Failure 14 Spermatogenic Failure 15
Spermatogenic Failure 16 Spermatogenic Failure 17
Spermatogenic Failure 18 Spermatogenic Failure 19
Spermatogenic Failure 20 Spermatogenic Failure 21
Spermatogenic Failure 22 Spermatogenic Failure 23
Spermatogenic Failure 24 Spermatogenic Failure 25
Spermatogenic Failure 26 Spermatogenic Failure 27
Spermatogenic Failure 28 Spermatogenic Failure 29
Spermatogenic Failure 30 Spermatogenic Failure 31
Spermatogenic Failure 32 Spermatogenic Failure 33
Spermatogenic Failure 34 Spermatogenic Failure 35
Spermatogenic Failure 36 Spermatogenic Failure 37
Spermatogenic Failure 38 Spermatogenic Failure 39
Spermatogenic Failure 40 Spermatogenic Failure 41
Spermatogenic Failure 42 Spermatogenic Failure 43
Spermatogenic Failure 44 Spermatogenic Failure 45
Spermatogenic Failure 46 Spermatogenic Failure 47
Spermatogenic Failure 48 Spermatogenic Failure 49
Spermatogenic Failure 50 Spermatogenic Failure 51
Spermatogenic Failure 52 Spermatogenic Failure 53

Diseases related to Spermatogenic Failure 18 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 male infertility 9.7 DNAH1 CFAP251
2 male infertility due to sperm motility disorder 9.7 DNAH1 CFAP251
3 infertility 9.6 DNAH1 CFAP251
4 non-syndromic male infertility due to sperm motility disorder 9.6 DNAH1 CFAP251
5 primary ciliary dyskinesia 9.5 DNAH1 CFAP251

Graphical network of the top 20 diseases related to Spermatogenic Failure 18:



Diseases related to Spermatogenic Failure 18

Symptoms & Phenotypes for Spermatogenic Failure 18

Human phenotypes related to Spermatogenic Failure 18:

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 05-Apr-2021)
Genitourinary Internal Genitalia Male:
absent sperm flagella
short sperm flagella
coiled sperm flagella
primary infertility
reduced or absent sperm motility
more

Clinical features from OMIM®:

617576 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 18

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 18

Genetic Tests for Spermatogenic Failure 18

Genetic tests related to Spermatogenic Failure 18:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 18 29 DNAH1

Anatomical Context for Spermatogenic Failure 18

Publications for Spermatogenic Failure 18

Articles related to Spermatogenic Failure 18:

# Title Authors PMID Year
1
Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese. 57 6
27573432 2017
2
Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations. 57 6
27798045 2016
3
Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. 57 6
24360805 2014
4
Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF). 57
29277146 2019
5
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. 57
29449551 2018
6
Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. 57
28552195 2017

Variations for Spermatogenic Failure 18

ClinVar genetic disease variations for Spermatogenic Failure 18:

6 (show top 50) (show all 609)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAH1 NM_015512.5(DNAH1):c.3860T>G (p.Val1287Gly) SNV Pathogenic 430858 rs1131692251 GRCh37: 3:52391631-52391631
GRCh38: 3:52357615-52357615
2 DNAH1 NM_015512.5(DNAH1):c.11788-1G>A SNV Pathogenic 430855 rs1131692234 GRCh37: 3:52431722-52431722
GRCh38: 3:52397706-52397706
3 DNAH1 NM_015512.5(DNAH1):c.3877G>A (p.Asp1293Asn) SNV Pathogenic 430856 rs140883175 GRCh37: 3:52391648-52391648
GRCh38: 3:52357632-52357632
4 DNAH1 NM_015512.5(DNAH1):c.8626-1G>A SNV Pathogenic 430857 rs1131692250 GRCh37: 3:52420175-52420175
GRCh38: 3:52386159-52386159
5 DNAH1 NM_015512.5(DNAH1):c.11726_11727del (p.Pro3909fs) Deletion Pathogenic 430860 rs779490893 GRCh37: 3:52430999-52431000
GRCh38: 3:52396983-52396984
6 DNAH1 NM_015512.5(DNAH1):c.1912_1913insGG (p.Asp638fs) Insertion Pathogenic 478375 rs557979163 GRCh37: 3:52380742-52380743
GRCh38: 3:52346726-52346727
7 DNAH1 NM_015512.5(DNAH1):c.12143del (p.Ala4048fs) Deletion Pathogenic 478373 rs746049858 GRCh37: 3:52432919-52432919
GRCh38: 3:52398903-52398903
8 DNAH1 NM_015512.5(DNAH1):c.7074dup (p.Arg2359fs) Duplication Pathogenic 478376 rs762545991 GRCh37: 3:52409343-52409344
GRCh38: 3:52375327-52375328
9 DNAH1 NM_015512.5(DNAH1):c.7676del (p.Val2559fs) Deletion Pathogenic 544627 rs765417610 GRCh37: 3:52415723-52415723
GRCh38: 3:52381707-52381707
10 DNAH1 NM_015512.5(DNAH1):c.1941_1944del (p.Asn648fs) Deletion Pathogenic 544604 rs1297408310 GRCh37: 3:52380772-52380775
GRCh38: 3:52346756-52346759
11 DNAH1 NM_015512.5(DNAH1):c.10636C>T (p.Arg3546Ter) SNV Pathogenic 544605 rs200416242 GRCh37: 3:52428490-52428490
GRCh38: 3:52394474-52394474
12 DNAH1 NM_015512.5(DNAH1):c.5104C>T (p.Arg1702Ter) SNV Pathogenic 568905 rs766323732 GRCh37: 3:52397020-52397020
GRCh38: 3:52363004-52363004
13 CFAP251 NM_144668.6(CFAP251):c.3007-4915_3338-930del Deletion Pathogenic 586974 GRCh37: 12:122432707-122440628
GRCh38: 12:121994801-122002722
14 DNAH1 NM_015512.5(DNAH1):c.9610C>T (p.Arg3204Ter) SNV Pathogenic 645523 rs759727960 GRCh37: 3:52423591-52423591
GRCh38: 3:52389575-52389575
15 DNAH1 NM_015512.5(DNAH1):c.9610C>T (p.Arg3204Ter) SNV Pathogenic 645523 rs759727960 GRCh37: 3:52423591-52423591
GRCh38: 3:52389575-52389575
16 DNAH1 NM_015512.5(DNAH1):c.6131del (p.Phe2044fs) Deletion Pathogenic 996332 GRCh37: 3:52404027-52404027
GRCh38: 3:52370011-52370011
17 DNAH1 NM_015512.5(DNAH1):c.10464_10465AG[2] (p.Arg3490fs) Microsatellite Pathogenic 578911 rs759646845 GRCh37: 3:52427031-52427034
GRCh38: 3:52393015-52393018
18 DNAH1 NM_015512.5(DNAH1):c.436del (p.Gln146fs) Deletion Pathogenic 856113 GRCh37: 3:52360184-52360184
GRCh38: 3:52326168-52326168
19 DNAH1 NM_015512.5(DNAH1):c.10002del (p.Glu3336fs) Deletion Pathogenic 946368 GRCh37: 3:52425569-52425569
GRCh38: 3:52391553-52391553
20 DNAH1 NM_015512.5(DNAH1):c.9340C>T (p.Gln3114Ter) SNV Pathogenic 869369 GRCh37: 3:52422602-52422602
GRCh38: 3:52388586-52388586
21 DNAH1 NM_015512.5(DNAH1):c.12339G>A (p.Trp4113Ter) SNV Pathogenic 478374 rs767196276 GRCh37: 3:52433115-52433115
GRCh38: 3:52399099-52399099
22 DNAH1 NM_015512.5(DNAH1):c.4900G>T (p.Glu1634Ter) SNV Pathogenic 1033361 GRCh37: 3:52395702-52395702
GRCh38: 3:52361686-52361686
23 DNAH1 NM_015512.5(DNAH1):c.11431-2A>G SNV Pathogenic 1029554 GRCh37: 3:52430632-52430632
GRCh38: 3:52396616-52396616
24 DNAH1 NM_015512.5(DNAH1):c.2602C>T (p.Arg868Ter) SNV Pathogenic 1029555 GRCh37: 3:52384080-52384080
GRCh38: 3:52350064-52350064
25 DNAH1 NM_015512.5(DNAH1):c.4167C>A (p.Tyr1389Ter) SNV Pathogenic 1030509 GRCh37: 3:52392654-52392654
GRCh38: 3:52358638-52358638
26 DNAH1 NM_015512.5(DNAH1):c.5755dup (p.Thr1919fs) Duplication Pathogenic 1030510 GRCh37: 3:52400892-52400893
GRCh38: 3:52366876-52366877
27 DNAH1 NM_015512.5(DNAH1):c.11610G>C (p.Lys3870Asn) SNV Likely pathogenic 869370 GRCh37: 3:52430813-52430813
GRCh38: 3:52396797-52396797
28 DNAH1 NM_015512.5(DNAH1):c.5244+1G>A SNV Likely pathogenic 950848 GRCh37: 3:52397161-52397161
GRCh38: 3:52363145-52363145
29 DNAH1 NM_015512.5(DNAH1):c.6644T>C (p.Met2215Thr) SNV Uncertain significance 951194 GRCh37: 3:52406080-52406080
GRCh38: 3:52372064-52372064
30 DNAH1 NM_015512.5(DNAH1):c.8633C>T (p.Thr2878Met) SNV Uncertain significance 953567 GRCh37: 3:52420183-52420183
GRCh38: 3:52386167-52386167
31 DNAH1 NM_015512.5(DNAH1):c.6343G>A (p.Val2115Met) SNV Uncertain significance 954412 GRCh37: 3:52404577-52404577
GRCh38: 3:52370561-52370561
32 DNAH1 NM_015512.5(DNAH1):c.8596G>A (p.Asp2866Asn) SNV Uncertain significance 956803 GRCh37: 3:52419434-52419434
GRCh38: 3:52385418-52385418
33 DNAH1 NM_015512.5(DNAH1):c.3071T>G (p.Leu1024Arg) SNV Uncertain significance 957289 GRCh37: 3:52387162-52387162
GRCh38: 3:52353146-52353146
34 DNAH1 NM_015512.5(DNAH1):c.6371G>A (p.Arg2124His) SNV Uncertain significance 957502 GRCh37: 3:52404605-52404605
GRCh38: 3:52370589-52370589
35 DNAH1 NM_015512.5(DNAH1):c.8315A>G (p.Gln2772Arg) SNV Uncertain significance 957503 GRCh37: 3:52418040-52418040
GRCh38: 3:52384024-52384024
36 DNAH1 NM_015512.5(DNAH1):c.7771G>A (p.Gly2591Ser) SNV Uncertain significance 964730 GRCh37: 3:52415818-52415818
GRCh38: 3:52381802-52381802
37 DNAH1 NM_015512.5(DNAH1):c.605T>C (p.Leu202Pro) SNV Uncertain significance 968249 GRCh37: 3:52360774-52360774
GRCh38: 3:52326758-52326758
38 DNAH1 NM_015512.5(DNAH1):c.6253A>G (p.Arg2085Gly) SNV Uncertain significance 970741 GRCh37: 3:52404240-52404240
GRCh38: 3:52370224-52370224
39 DNAH1 NM_015512.5(DNAH1):c.1135A>G (p.Asn379Asp) SNV Uncertain significance 972078 GRCh37: 3:52366259-52366259
GRCh38: 3:52332243-52332243
40 DNAH1 NM_015512.5(DNAH1):c.1006A>G (p.Ile336Val) SNV Uncertain significance 972491 GRCh37: 3:52365298-52365298
GRCh38: 3:52331282-52331282
41 DNAH1 NM_015512.5(DNAH1):c.9814C>T (p.Arg3272Cys) SNV Uncertain significance 569725 rs200784189 GRCh37: 3:52425267-52425267
GRCh38: 3:52391251-52391251
42 DNAH1 NM_015512.5(DNAH1):c.3260G>A (p.Arg1087His) SNV Uncertain significance 649146 rs145381093 GRCh37: 3:52387429-52387429
GRCh38: 3:52353413-52353413
43 DNAH1 NM_015512.5(DNAH1):c.11063A>G (p.Tyr3688Cys) SNV Uncertain significance 662165 rs369995851 GRCh37: 3:52429418-52429418
GRCh38: 3:52395402-52395402
44 DNAH1 NM_015512.5(DNAH1):c.9814C>T (p.Arg3272Cys) SNV Uncertain significance 569725 rs200784189 GRCh37: 3:52425267-52425267
GRCh38: 3:52391251-52391251
45 DNAH1 NM_015512.5(DNAH1):c.4619A>G (p.Glu1540Gly) SNV Uncertain significance 1034707 GRCh37: 3:52394374-52394374
GRCh38: 3:52360358-52360358
46 DNAH1 NM_015512.5(DNAH1):c.6436G>C (p.Glu2146Gln) SNV Uncertain significance 1035549 GRCh37: 3:52404752-52404752
GRCh38: 3:52370736-52370736
47 DNAH1 NM_015512.5(DNAH1):c.12191C>A (p.Ala4064Asp) SNV Uncertain significance 1036250 GRCh37: 3:52432967-52432967
GRCh38: 3:52398951-52398951
48 DNAH1 NM_015512.5(DNAH1):c.7759G>A (p.Val2587Met) SNV Uncertain significance 1036467 GRCh37: 3:52415806-52415806
GRCh38: 3:52381790-52381790
49 DNAH1 NM_015512.5(DNAH1):c.2532C>T (p.Cys844=) SNV Uncertain significance 1037545 GRCh37: 3:52384010-52384010
GRCh38: 3:52349994-52349994
50 DNAH1 NM_015512.5(DNAH1):c.9373G>C (p.Gly3125Arg) SNV Uncertain significance 1039420 GRCh37: 3:52422831-52422831
GRCh38: 3:52388815-52388815

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 18:

72
# Symbol AA change Variation ID SNP ID
1 DNAH1 p.Val1287Gly VAR_079511 rs113169225
2 DNAH1 p.Asp1293Asn VAR_079512 rs140883175

Expression for Spermatogenic Failure 18

Search GEO for disease gene expression data for Spermatogenic Failure 18.

Pathways for Spermatogenic Failure 18

GO Terms for Spermatogenic Failure 18

Cellular components related to Spermatogenic Failure 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.37 DNAH1 CFAP251
2 cell projection GO:0042995 9.32 DNAH1 CFAP251
3 cilium GO:0005929 9.26 DNAH1 CFAP251
4 motile cilium GO:0031514 9.16 DNAH1 CFAP251
5 axoneme GO:0005930 8.96 DNAH1 CFAP251
6 sperm flagellum GO:0036126 8.62 DNAH1 CFAP251

Biological processes related to Spermatogenic Failure 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 flagellated sperm motility GO:0030317 8.96 DNAH1 CFAP251
2 cilium movement GO:0003341 8.62 DNAH1 CFAP251

Sources for Spermatogenic Failure 18

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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