SPGF46
MCID: SPR158
MIFTS: 21

Spermatogenic Failure 46 (SPGF46)

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

Aliases & Classifications for Spermatogenic Failure 46

MalaCards integrated aliases for Spermatogenic Failure 46:

Name: Spermatogenic Failure 46 57 12 6
Spgf46 57 12

Characteristics:

OMIM®:

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


HPO:

31
spermatogenic failure 46:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0112164
OMIM® 57 619095
OMIM Phenotypic Series 57 PS258150
SNOMED-CT via HPO 68 258211005 2904007

Summaries for Spermatogenic Failure 46

OMIM® : 57 Spermatogenic failure-46 (SPGF46) is characterized by male infertility due to asthenoteratozoospermia. Sperm of affected men exhibit multiple morphologic abnormalities of the flagella (MMAF), including flagella that are absent, short, coiled, angulated, and/or of irregular caliber. Ultrastructural analysis shows disorganization of axonemal and periaxonemal structures (Liu et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (619095) (Updated 05-Apr-2021)

MalaCards based summary : Spermatogenic Failure 46, also known as spgf46, is related to ciliary dyskinesia, primary, 1 and primary ciliary dyskinesia. An important gene associated with Spermatogenic Failure 46 is DNAH8 (Dynein Axonemal Heavy Chain 8). Related phenotypes are male infertility and reduced sperm motility

Disease Ontology : 12 A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has material basis in homozygous or compound heterozygous mutation in DNAH8 on chromosome 6p21.2.

Related Diseases for Spermatogenic Failure 46

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 46 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 1 9.6 DNAH8-AS1 DNAH8
2 primary ciliary dyskinesia 9.5 DNAH8-AS1 DNAH8

Symptoms & Phenotypes for Spermatogenic Failure 46

Human phenotypes related to Spermatogenic Failure 46:

31
# Description HPO Frequency HPO Source Accession
1 male infertility 31 very rare (1%) HP:0003251
2 reduced sperm motility 31 very rare (1%) HP:0012207
3 absent sperm flagella 31 very rare (1%) HP:0032558
4 short sperm flagella 31 very rare (1%) HP:0032559
5 coiled sperm flagella 31 very rare (1%) HP:0032560

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
infertility
absent outer dynein arms
absent flagella
short flagella
coiled flagella
more

Clinical features from OMIM®:

619095 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 46

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 46

Genetic Tests for Spermatogenic Failure 46

Anatomical Context for Spermatogenic Failure 46

Publications for Spermatogenic Failure 46

Articles related to Spermatogenic Failure 46:

# Title Authors PMID Year
1
Loss-of-function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella. 57 6
32681648 2020
2
Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility. 6 57
32619401 2020

Variations for Spermatogenic Failure 46

ClinVar genetic disease variations for Spermatogenic Failure 46:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAH8-AS1 , DNAH8 NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met) SNV Pathogenic 402771 rs61757218 GRCh37: 6:38905957-38905957
GRCh38: 6:38938181-38938181
2 DNAH8 NM_001206927.2(DNAH8):c.6689A>G (p.Lys2230Arg) SNV Pathogenic 984739 GRCh37: 6:38834648-38834648
GRCh38: 6:38866872-38866872
3 DNAH8-AS1 , DNAH8 NM_001206927.2(DNAH8):c.9427C>T (p.Arg3143Cys) SNV Pathogenic 641999 rs151313083 GRCh37: 6:38875810-38875810
GRCh38: 6:38908034-38908034
4 DNAH8 NM_001206927.2(DNAH8):c.12721G>A (p.Ala4241Thr) SNV Pathogenic 700134 rs369473998 GRCh37: 6:38942192-38942192
GRCh38: 6:38974416-38974416
5 DNAH8 NM_001206927.2(DNAH8):c.6962_6968del (p.His2321fs) Deletion Pathogenic 984742 GRCh37: 6:38838307-38838313
GRCh38: 6:38870531-38870537
6 DNAH8 NM_001206927.2(DNAH8):c.380_381del (p.Lys127fs) Deletion Pathogenic 984743 GRCh37: 6:38690963-38690964
GRCh38: 6:38723187-38723188
7 DNAH8 NM_001206927.2(DNAH8):c.3006A>T (p.Lys1002Asn) SNV Uncertain significance 996093 GRCh37: 6:38771059-38771059
GRCh38: 6:38803283-38803283
8 DNAH8 NM_001206927.2(DNAH8):c.665A>G (p.Tyr222Cys) SNV Uncertain significance 996094 GRCh37: 6:38702304-38702304
GRCh38: 6:38734528-38734528
9 DNAH8-AS1 , DNAH8 NM_001206927.2(DNAH8):c.11468C>T (p.Ala3823Val) SNV Uncertain significance 569635 rs185283741 GRCh37: 6:38903378-38903378
GRCh38: 6:38935602-38935602
10 DNAH8 NM_001206927.2(DNAH8):c.3601A>G (p.Lys1201Glu) SNV Uncertain significance 996095 GRCh37: 6:38790691-38790691
GRCh38: 6:38822915-38822915

Expression for Spermatogenic Failure 46

Search GEO for disease gene expression data for Spermatogenic Failure 46.

Pathways for Spermatogenic Failure 46

GO Terms for Spermatogenic Failure 46

Sources for Spermatogenic Failure 46

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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