SPGF38
MCID: SPR143
MIFTS: 21

Spermatogenic Failure 38 (SPGF38)

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

Aliases & Classifications for Spermatogenic Failure 38

MalaCards integrated aliases for Spermatogenic Failure 38:

Name: Spermatogenic Failure 38 57 12 72 29 6
Spgf38 57 12 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
spermatogenic failure 38:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111919
OMIM® 57 618433
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 258211005 2904007

Summaries for Spermatogenic Failure 38

OMIM® : 57 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). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618433) (Updated 20-May-2021)

MalaCards based summary : Spermatogenic Failure 38, also known as spgf38, is related to male infertility with teratozoospermia due to single gene mutation. An important gene associated with Spermatogenic Failure 38 is ARMC2 (Armadillo Repeat Containing 2). Related phenotypes are coiled sperm flagella and tapered sperm head

Disease Ontology : 12 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has material basis in homozygous or compound heterozygous mutation in ARMC2 on chromosome 6q21.

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 38: An autosomal recessive infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic abnormalities including short, absent, coiled, bent, or irregular- caliber flagella.

Related Diseases for Spermatogenic Failure 38

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

# Related Disease Score Top Affiliating Genes
1 male infertility with teratozoospermia due to single gene mutation 9.5 ARMC2-AS1 ARMC2

Symptoms & Phenotypes for Spermatogenic Failure 38

Human phenotypes related to Spermatogenic Failure 38:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 coiled sperm flagella 31 very rare (1%) HP:0032560
2 tapered sperm head 31 very rare (1%) HP:0032562
3 male infertility 31 HP:0003251
4 oligospermia 31 HP:0000798
5 reduced sperm motility 31 HP:0012207
6 abnormal axonemal organization of respiratory motile cilia 31 HP:0012258
7 absent sperm flagella 31 HP:0032558

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
asthenoteratozoospermia
absent flagella
short flagella
coiled flagella
irregular-caliber flagella
more

Clinical features from OMIM®:

618433 (Updated 20-May-2021)

Drugs & Therapeutics for Spermatogenic Failure 38

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 38

Genetic Tests for Spermatogenic Failure 38

Genetic tests related to Spermatogenic Failure 38:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 38 29 ARMC2

Anatomical Context for Spermatogenic Failure 38

Publications for Spermatogenic Failure 38

Articles related to Spermatogenic Failure 38:

# Title Authors PMID Year
1
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. 57 6
30686508 2019

Variations for Spermatogenic Failure 38

ClinVar genetic disease variations for Spermatogenic Failure 38:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARMC2 NM_032131.6(ARMC2):c.1023+1G>A SNV Pathogenic 617790 rs1562372417 GRCh37: 6:109225609-109225609
GRCh38: 6:108904406-108904406
2 ARMC2 NM_032131.6(ARMC2):c.2279T>A (p.Ile760Asn) SNV Pathogenic 627628 rs1562435988 GRCh37: 6:109285509-109285509
GRCh38: 6:108964306-108964306
3 ARMC2 NM_032131.6(ARMC2):c.2353_2354del (p.Leu785fs) Deletion Pathogenic 627629 rs1562436860 GRCh37: 6:109286249-109286250
GRCh38: 6:108965046-108965047
4 ARMC2-AS1 , ARMC2 NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs) Deletion Pathogenic 627630 rs1562381747 GRCh37: 6:109233692-109233696
GRCh38: 6:108912489-108912493
5 ARMC2 NM_032131.6(ARMC2):c.421C>T (p.Gln141Ter) SNV Pathogenic 627631 rs1562332833 GRCh37: 6:109190156-109190156
GRCh38: 6:108868953-108868953

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