MCID: SPR113
MIFTS: 14

Spermatogenic Failure 18

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 18

MalaCards integrated aliases for Spermatogenic Failure 18:

Name: Spermatogenic Failure 18 57 75 6
Spgf18 57 75

Characteristics:

OMIM:

57
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


Classifications:



External Ids:

OMIM 57 617576
MeSH 44 D007248

Summaries for Spermatogenic Failure 18

UniProtKB/Swiss-Prot : 75 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, is also known as spgf18. An important gene associated with Spermatogenic Failure 18 is DNAH1 (Dynein Axonemal Heavy Chain 1).

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)

Symptoms & Phenotypes for Spermatogenic Failure 18

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
primary infertility
reduced or absent sperm motility
morphologic defects of sperm flagella
absent sperm flagella
short sperm flagella
more

Clinical features from OMIM:

617576

Drugs & Therapeutics for Spermatogenic Failure 18

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 18

Genetic Tests for Spermatogenic Failure 18

Anatomical Context for Spermatogenic Failure 18

Publications for Spermatogenic Failure 18

Variations for Spermatogenic Failure 18

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

75
# Symbol AA change Variation ID SNP ID
1 DNAH1 p.Val1287Gly VAR_079511
2 DNAH1 p.Asp1293Asn VAR_079512

ClinVar genetic disease variations for Spermatogenic Failure 18:

6
(show top 50) (show all 478)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAH1 NM_015512.4(DNAH1): c.1351A> G (p.Lys451Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs76591348 GRCh37 Chromosome 3, 52378570: 52378570
2 DNAH1 NM_015512.4(DNAH1): c.1351A> G (p.Lys451Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs76591348 GRCh38 Chromosome 3, 52344554: 52344554
3 DNAH1 NM_015512.4(DNAH1): c.11788-1G> A single nucleotide variant Pathogenic rs1131692234 GRCh38 Chromosome 3, 52397706: 52397706
4 DNAH1 NM_015512.4(DNAH1): c.11788-1G> A single nucleotide variant Pathogenic rs1131692234 GRCh37 Chromosome 3, 52431722: 52431722
5 DNAH1 NM_015512.4(DNAH1): c.3877G> A (p.Asp1293Asn) single nucleotide variant Pathogenic rs140883175 GRCh38 Chromosome 3, 52357632: 52357632
6 DNAH1 NM_015512.4(DNAH1): c.3877G> A (p.Asp1293Asn) single nucleotide variant Pathogenic rs140883175 GRCh37 Chromosome 3, 52391648: 52391648
7 DNAH1 NM_015512.4(DNAH1): c.8626-1G> A single nucleotide variant Pathogenic rs1131692250 GRCh38 Chromosome 3, 52386159: 52386159
8 DNAH1 NM_015512.4(DNAH1): c.8626-1G> A single nucleotide variant Pathogenic rs1131692250 GRCh37 Chromosome 3, 52420175: 52420175
9 DNAH1 NM_015512.4(DNAH1): c.3860T> G (p.Val1287Gly) single nucleotide variant Pathogenic rs1131692251 GRCh38 Chromosome 3, 52357615: 52357615
10 DNAH1 NM_015512.4(DNAH1): c.3860T> G (p.Val1287Gly) single nucleotide variant Pathogenic rs1131692251 GRCh37 Chromosome 3, 52391631: 52391631
11 DNAH1 NM_015512.4(DNAH1): c.11726_11727delCT (p.Pro3909Argfs) deletion Pathogenic rs779490893 GRCh37 Chromosome 3, 52430999: 52431000
12 DNAH1 NM_015512.4(DNAH1): c.11726_11727delCT (p.Pro3909Argfs) deletion Pathogenic rs779490893 GRCh38 Chromosome 3, 52396983: 52396984
13 DNAH1 NM_015512.4(DNAH1): c.569T> C (p.Ile190Thr) single nucleotide variant Benign rs61729450 GRCh37 Chromosome 3, 52360318: 52360318
14 DNAH1 NM_015512.4(DNAH1): c.569T> C (p.Ile190Thr) single nucleotide variant Benign rs61729450 GRCh38 Chromosome 3, 52326302: 52326302
15 DNAH1 NM_015512.4(DNAH1): c.1172A> G (p.Tyr391Cys) single nucleotide variant Benign rs181418923 GRCh37 Chromosome 3, 52366296: 52366296
16 DNAH1 NM_015512.4(DNAH1): c.1172A> G (p.Tyr391Cys) single nucleotide variant Benign rs181418923 GRCh38 Chromosome 3, 52332280: 52332280
17 DNAH1 NM_015512.4(DNAH1): c.1789C> T (p.Arg597Cys) single nucleotide variant Benign rs61734654 GRCh37 Chromosome 3, 52380620: 52380620
18 DNAH1 NM_015512.4(DNAH1): c.1789C> T (p.Arg597Cys) single nucleotide variant Benign rs61734654 GRCh38 Chromosome 3, 52346604: 52346604
19 DNAH1 NM_015512.4(DNAH1): c.1912G> A (p.Asp638Asn) single nucleotide variant Likely benign rs201988957 GRCh37 Chromosome 3, 52380743: 52380743
20 DNAH1 NM_015512.4(DNAH1): c.1912G> A (p.Asp638Asn) single nucleotide variant Likely benign rs201988957 GRCh38 Chromosome 3, 52346727: 52346727
21 DNAH1 NM_015512.4(DNAH1): c.1960C> T (p.Arg654Trp) single nucleotide variant Uncertain significance rs755225053 GRCh37 Chromosome 3, 52381844: 52381844
22 DNAH1 NM_015512.4(DNAH1): c.1960C> T (p.Arg654Trp) single nucleotide variant Uncertain significance rs755225053 GRCh38 Chromosome 3, 52347828: 52347828
23 DNAH1 NM_015512.4(DNAH1): c.1981A> G (p.Met661Val) single nucleotide variant Benign rs61734653 GRCh37 Chromosome 3, 52381865: 52381865
24 DNAH1 NM_015512.4(DNAH1): c.1981A> G (p.Met661Val) single nucleotide variant Benign rs61734653 GRCh38 Chromosome 3, 52347849: 52347849
25 DNAH1 NM_015512.4(DNAH1): c.2576A> G (p.Asn859Ser) single nucleotide variant Uncertain significance rs200428788 GRCh37 Chromosome 3, 52384054: 52384054
26 DNAH1 NM_015512.4(DNAH1): c.2576A> G (p.Asn859Ser) single nucleotide variant Uncertain significance rs200428788 GRCh38 Chromosome 3, 52350038: 52350038
27 DNAH1 NM_015512.4(DNAH1): c.3392C> A (p.Ala1131Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 52353545: 52353545
28 DNAH1 NM_015512.4(DNAH1): c.3392C> A (p.Ala1131Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 52387561: 52387561
29 DNAH1 NM_015512.4(DNAH1): c.3694-4C> G single nucleotide variant Benign rs550254957 GRCh37 Chromosome 3, 52390626: 52390626
30 DNAH1 NM_015512.4(DNAH1): c.3694-4C> G single nucleotide variant Benign rs550254957 GRCh38 Chromosome 3, 52356610: 52356610
31 DNAH1 NM_015512.4(DNAH1): c.4005A> G (p.Glu1335=) single nucleotide variant Likely benign GRCh38 Chromosome 3, 52357922: 52357922
32 DNAH1 NM_015512.4(DNAH1): c.4005A> G (p.Glu1335=) single nucleotide variant Likely benign GRCh37 Chromosome 3, 52391938: 52391938
33 DNAH1 NM_015512.4(DNAH1): c.5669G> T (p.Gly1890Val) single nucleotide variant Benign rs200859252 GRCh38 Chromosome 3, 52366791: 52366791
34 DNAH1 NM_015512.4(DNAH1): c.5669G> T (p.Gly1890Val) single nucleotide variant Benign rs200859252 GRCh37 Chromosome 3, 52400807: 52400807
35 DNAH1 NM_015512.4(DNAH1): c.6002C> T (p.Ser2001Phe) single nucleotide variant Uncertain significance rs772200369 GRCh38 Chromosome 3, 52369883: 52369883
36 DNAH1 NM_015512.4(DNAH1): c.6002C> T (p.Ser2001Phe) single nucleotide variant Uncertain significance rs772200369 GRCh37 Chromosome 3, 52403899: 52403899
37 DNAH1 NM_015512.4(DNAH1): c.7074dup (p.Arg2359Alafs) duplication Pathogenic GRCh38 Chromosome 3, 52375328: 52375328
38 DNAH1 NM_015512.4(DNAH1): c.7074dup (p.Arg2359Alafs) duplication Pathogenic GRCh37 Chromosome 3, 52409344: 52409344
39 DNAH1 NM_015512.4(DNAH1): c.7109A> C (p.Asp2370Ala) single nucleotide variant Likely benign rs202011102 GRCh37 Chromosome 3, 52409379: 52409379
40 DNAH1 NM_015512.4(DNAH1): c.7109A> C (p.Asp2370Ala) single nucleotide variant Likely benign rs202011102 GRCh38 Chromosome 3, 52375363: 52375363
41 DNAH1 NM_015512.4(DNAH1): c.8266G> A (p.Val2756Met) single nucleotide variant Benign rs61749019 GRCh37 Chromosome 3, 52417991: 52417991
42 DNAH1 NM_015512.4(DNAH1): c.8266G> A (p.Val2756Met) single nucleotide variant Benign rs61749019 GRCh38 Chromosome 3, 52383975: 52383975
43 DNAH1 NM_015512.4(DNAH1): c.8649G> C (p.Glu2883Asp) single nucleotide variant Likely benign rs79689614 GRCh38 Chromosome 3, 52386183: 52386183
44 DNAH1 NM_015512.4(DNAH1): c.8649G> C (p.Glu2883Asp) single nucleotide variant Likely benign rs79689614 GRCh37 Chromosome 3, 52420199: 52420199
45 DNAH1 NM_015512.4(DNAH1): c.9121C> T (p.Arg3041Cys) single nucleotide variant Benign rs61731638 GRCh38 Chromosome 3, 52388284: 52388284
46 DNAH1 NM_015512.4(DNAH1): c.9121C> T (p.Arg3041Cys) single nucleotide variant Benign rs61731638 GRCh37 Chromosome 3, 52422300: 52422300
47 DNAH1 NM_015512.4(DNAH1): c.9622-6C> T single nucleotide variant Uncertain significance rs946083803 GRCh38 Chromosome 3, 52390929: 52390929
48 DNAH1 NM_015512.4(DNAH1): c.9622-6C> T single nucleotide variant Uncertain significance rs946083803 GRCh37 Chromosome 3, 52424945: 52424945
49 DNAH1 NM_015512.4(DNAH1): c.9646C> G (p.Leu3216Val) single nucleotide variant Uncertain significance rs200158571 GRCh37 Chromosome 3, 52424975: 52424975
50 DNAH1 NM_015512.4(DNAH1): c.9646C> G (p.Leu3216Val) single nucleotide variant Uncertain significance rs200158571 GRCh38 Chromosome 3, 52390959: 52390959

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

Sources for Spermatogenic Failure 18

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