SPGF38
MCID: SPR143
MIFTS: 15

Spermatogenic Failure 38 (SPGF38)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 38

MalaCards integrated aliases for Spermatogenic Failure 38:

Name: Spermatogenic Failure 38 58 6
Spgf38 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 58 618433

Summaries for Spermatogenic Failure 38

OMIM : 58 Spermatogenic failure-38 (SPGF38) is characterized by primary infertility and asthenoteratozoospermia due to multiple morphologic abnormalities of the flagella (MMAF). Spermatozoa show total sperm motility below 10% and exhibit morphologic anomalies including short, absent, coiled, bent, or irregular-caliber flagella (Coutton et al., 2019). (618433)

MalaCards based summary : Spermatogenic Failure 38, is also known as spgf38. An important gene associated with Spermatogenic Failure 38 is ARMC2 (Armadillo Repeat Containing 2).

Symptoms & Phenotypes for Spermatogenic Failure 38

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
asthenoteratozoospermia
primary infertility
absent flagella
short flagella
coiled flagella
more

Clinical features from OMIM:

618433

Drugs & Therapeutics for Spermatogenic Failure 38

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 38

Genetic Tests for Spermatogenic Failure 38

Anatomical Context for Spermatogenic Failure 38

Publications for Spermatogenic Failure 38

Variations for Spermatogenic Failure 38

ClinVar genetic disease variations for Spermatogenic Failure 38:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARMC2 NM_032131.6(ARMC2): c.1023+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 6, 108904406: 108904406
2 ARMC2 NM_032131.6(ARMC2): c.1023+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 6, 109225609: 109225609
3 ARMC2 NM_032131.6(ARMC2): c.2279T> A (p.Ile760Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 108964306: 108964306
4 ARMC2 NM_032131.6(ARMC2): c.2279T> A (p.Ile760Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 109285509: 109285509
5 ARMC2 NM_032131.6(ARMC2): c.2353_2354del (p.Leu785Metfs) deletion Pathogenic GRCh37 Chromosome 6, 109286250: 109286251
6 ARMC2 NM_032131.6(ARMC2): c.2353_2354del (p.Leu785Metfs) deletion Pathogenic GRCh38 Chromosome 6, 108965047: 108965048
7 ARMC2 NM_001286609.1(ARMC2): c.789_793del (p.Lys263Asnfs) deletion Pathogenic GRCh37 Chromosome 6, 109233695: 109233699
8 ARMC2 NM_001286609.1(ARMC2): c.789_793del (p.Lys263Asnfs) deletion Pathogenic GRCh38 Chromosome 6, 108912492: 108912496
9 ARMC2 NM_032131.6(ARMC2): c.421C> T (p.Gln141Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 108868953: 108868953
10 ARMC2 NM_032131.6(ARMC2): c.421C> T (p.Gln141Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 109190156: 109190156

Expression for Spermatogenic Failure 38

Search GEO for disease gene expression data for Spermatogenic Failure 38.

Pathways for Spermatogenic Failure 38

GO Terms for Spermatogenic Failure 38

Sources for Spermatogenic Failure 38

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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