SPGF7
MCID: SPR088
MIFTS: 32

Spermatogenic Failure 7 (SPGF7)

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

Aliases & Classifications for Spermatogenic Failure 7

MalaCards integrated aliases for Spermatogenic Failure 7:

Name: Spermatogenic Failure 7 57 12 72 29 13 6 44 70
Spgf7 57 12 72
Miar 57 72
Male Infertility, Nonsyndromic, Autosomal Recessive; Miar 57
Male Infertility, Nonsyndromic, Autosomal Recessive 57
Male Infertility Non-Syndromic Autosomal Recessive 72
Spermatogenic Failure, Type 7 39

Characteristics:

OMIM®:

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

Miscellaneous:
based on 2 men from 2 unrelated consanguineous iranian families


HPO:

31
spermatogenic failure 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070173
OMIM® 57 612997
OMIM Phenotypic Series 57 PS258150
MedGen 41 C2751811
SNOMED-CT via HPO 68 258211005 2904007
UMLS 70 C2751811

Summaries for Spermatogenic Failure 7

Disease Ontology : 12 A male infertility characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has material basis in mutation in the CATSPER1 gene on chromosome 11q13.

MalaCards based summary : Spermatogenic Failure 7, also known as spgf7, is related to oligoasthenoteratozoospermia and deafness-infertility syndrome. An important gene associated with Spermatogenic Failure 7 is CATSPER1 (Cation Channel Sperm Associated 1), and among its related pathways/superpathways is Reproduction. Related phenotypes are male infertility and oligospermia

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 7: An infertility disorder characterized by non-motile sperm or sperm motility below the normal threshold, low sperm count, increased abnormally structured spermatozoa, and reduced semen volume.

More information from OMIM: 612997 PS258150

Related Diseases for Spermatogenic Failure 7

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

# Related Disease Score Top Affiliating Genes
1 oligoasthenoteratozoospermia 9.7 CATSPER2 CATSPER1
2 deafness-infertility syndrome 9.7 STRC CATSPER2
3 deafness, autosomal recessive 16 9.7 STRC CATSPER2
4 non-syndromic male infertility due to sperm motility disorder 9.5 STRC CATSPER1
5 rare genetic deafness 9.5 STRC CATSPER2
6 catsper-related male infertility 9.4 STRC CATSPER2 CATSPER1
7 male infertility 9.4 STRC CATSPER2 CATSPER1
8 infertility 9.4 STRC CATSPER2 CATSPER1

Graphical network of the top 20 diseases related to Spermatogenic Failure 7:



Diseases related to Spermatogenic Failure 7

Symptoms & Phenotypes for Spermatogenic Failure 7

Human phenotypes related to Spermatogenic Failure 7:

31
# Description HPO Frequency HPO Source Accession
1 male infertility 31 HP:0003251
2 oligospermia 31 HP:0000798
3 reduced sperm motility 31 HP:0012207
4 immotile sperm 31 HP:0012208

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
infertility
nonmotile sperm
decreased sperm motility
low sperm count
reduced semen volume
more

Clinical features from OMIM®:

612997 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 7

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 7

Cochrane evidence based reviews: spermatogenic failure 7

Genetic Tests for Spermatogenic Failure 7

Genetic tests related to Spermatogenic Failure 7:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 7 29 CATSPER1 CATSPER2 STRC

Anatomical Context for Spermatogenic Failure 7

Publications for Spermatogenic Failure 7

Articles related to Spermatogenic Failure 7:

# Title Authors PMID Year
1
Human male infertility caused by mutations in the CATSPER1 channel protein. 57 6
19344877 2009
2
A sperm ion channel required for sperm motility and male fertility. 57
11595941 2001
3
Giving a nutritional fast hug in the intensive care unit. 61
25929396 2015
4
Branched artificial nanofinger arrays by mesoporous interfacial atomic rearrangement. 61
25764364 2015
5
Impact of pretreatment nasal symptoms on treatment outcome in allergic rhinitis. 61
20172384 2010
6
The correlation between nasal symptom and mucociliary clearance in allergic rhinitis. 61
19507239 2009
7
Alkaline phosphatase inhibition by levamisole prevents 1,25-dihydroxyvitamin D3-stimulated bone mineralization in the mouse. 61
3087604 1986
8
Inhibition by aminohydroxypropylidene bisphosphonate (AHPrBP) of 1,25(OH)2 vitamin D3-induced stimulated bone turnover in the mouse. 61
3926276 1985

Variations for Spermatogenic Failure 7

ClinVar genetic disease variations for Spermatogenic Failure 7:

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CATSPER1 NM_053054.4(CATSPER1):c.944_948dup (p.Asp317fs) Duplication Pathogenic 4401 rs193929391 GRCh37: 11:65792902-65792903
GRCh38: 11:66025431-66025432
2 CATSPER1 NM_053054.4(CATSPER1):c.539dup (p.His182fs) Duplication Pathogenic 4400 rs193929390 GRCh37: 11:65793311-65793312
GRCh38: 11:66025840-66025841
3 CATSPER1 NM_053054.4(CATSPER1):c.2033del (p.Leu678fs) Deletion Pathogenic 1033025 GRCh37: 11:65787819-65787819
GRCh38: 11:66020348-66020348
4 STRC NM_153700.2(STRC):c.4219-1G>A SNV Likely pathogenic 505435 rs748854592 GRCh37: 15:43896351-43896351
GRCh38: 15:43604153-43604153
5 CATSPER1 NM_053054.4(CATSPER1):c.1457T>A (p.Ile486Lys) SNV Uncertain significance 877855 GRCh37: 11:65789323-65789323
GRCh38: 11:66021852-66021852
6 CATSPER1 NM_053054.4(CATSPER1):c.1270T>C (p.Trp424Arg) SNV Uncertain significance 877856 GRCh37: 11:65790479-65790479
GRCh38: 11:66023008-66023008
7 CATSPER1 NM_053054.4(CATSPER1):c.310G>A (p.Ala104Thr) SNV Uncertain significance 877899 GRCh37: 11:65793541-65793541
GRCh38: 11:66026070-66026070
8 CATSPER1 NM_053054.4(CATSPER1):c.261C>T (p.His87=) SNV Uncertain significance 877900 GRCh37: 11:65793590-65793590
GRCh38: 11:66026119-66026119
9 CATSPER1 NM_053054.4(CATSPER1):c.216C>T (p.Ser72=) SNV Uncertain significance 877901 GRCh37: 11:65793635-65793635
GRCh38: 11:66026164-66026164
10 CATSPER1 NM_053054.4(CATSPER1):c.148G>A (p.Val50Met) SNV Uncertain significance 877902 GRCh37: 11:65793703-65793703
GRCh38: 11:66026232-66026232
11 CATSPER1 NM_053054.4(CATSPER1):c.145G>A (p.Gly49Ser) SNV Uncertain significance 877903 GRCh37: 11:65793706-65793706
GRCh38: 11:66026235-66026235
12 CATSPER1 NM_053054.4(CATSPER1):c.129C>T (p.Tyr43=) SNV Uncertain significance 877904 GRCh37: 11:65793722-65793722
GRCh38: 11:66026251-66026251
13 CATSPER1 NM_053054.4(CATSPER1):c.1077G>A (p.Ser359=) SNV Uncertain significance 878017 GRCh37: 11:65792774-65792774
GRCh38: 11:66025303-66025303
14 CATSPER1 NM_053054.4(CATSPER1):c.1544-10G>A SNV Uncertain significance 305425 rs764182570 GRCh37: 11:65789124-65789124
GRCh38: 11:66021653-66021653
15 CATSPER1 NM_053054.4(CATSPER1):c.1884G>A (p.Thr628=) SNV Uncertain significance 305422 rs370158610 GRCh37: 11:65788325-65788325
GRCh38: 11:66020854-66020854
16 CATSPER1 NM_053054.4(CATSPER1):c.333C>T (p.Tyr111=) SNV Uncertain significance 305448 rs575875557 GRCh37: 11:65793518-65793518
GRCh38: 11:66026047-66026047
17 CATSPER1 NM_053054.4(CATSPER1):c.*96G>A SNV Uncertain significance 305414 rs1783566 GRCh37: 11:65784265-65784265
GRCh38: 11:66016794-66016794
18 CATSPER1 NM_053054.4(CATSPER1):c.1195G>A (p.Gly399Arg) SNV Uncertain significance 305434 rs886048522 GRCh37: 11:65792656-65792656
GRCh38: 11:66025185-66025185
19 CATSPER1 NM_053054.4(CATSPER1):c.1444G>A (p.Ala482Thr) SNV Uncertain significance 305431 rs886048521 GRCh37: 11:65789336-65789336
GRCh38: 11:66021865-66021865
20 CATSPER1 NM_053054.4(CATSPER1):c.55G>A (p.Ala19Thr) SNV Uncertain significance 305451 rs775284326 GRCh37: 11:65793796-65793796
GRCh38: 11:66026325-66026325
21 CATSPER1 NM_053054.4(CATSPER1):c.1514C>T (p.Ser505Leu) SNV Uncertain significance 305428 rs74484098 GRCh37: 11:65789266-65789266
GRCh38: 11:66021795-66021795
22 CATSPER1 NM_053054.4(CATSPER1):c.853_854CA[3] (p.Gln287fs) Microsatellite Uncertain significance 561180 rs1565074167 GRCh37: 11:65792991-65792992
GRCh38: 11:66025520-66025521
23 CATSPER1 NM_053054.4(CATSPER1):c.813T>C (p.Asp271=) SNV Uncertain significance 305440 rs371489713 GRCh37: 11:65793038-65793038
GRCh38: 11:66025567-66025567
24 CATSPER1 NM_053054.4(CATSPER1):c.970C>G (p.Gln324Glu) SNV Uncertain significance 305437 rs773285320 GRCh37: 11:65792881-65792881
GRCh38: 11:66025410-66025410
25 CATSPER1 NM_053054.4(CATSPER1):c.2064+6G>A SNV Uncertain significance 305420 rs143930161 GRCh37: 11:65787782-65787782
GRCh38: 11:66020311-66020311
26 CATSPER1 NM_053054.4(CATSPER1):c.2109G>A (p.Thr703=) SNV Uncertain significance 305417 rs139275824 GRCh37: 11:65787627-65787627
GRCh38: 11:66020156-66020156
27 CATSPER1 NM_053054.4(CATSPER1):c.402G>A (p.Gly134=) SNV Uncertain significance 305446 rs370953416 GRCh37: 11:65793449-65793449
GRCh38: 11:66025978-66025978
28 CATSPER1 NM_053054.4(CATSPER1):c.695A>T (p.His232Leu) SNV Uncertain significance 305443 rs149769183 GRCh37: 11:65793156-65793156
GRCh38: 11:66025685-66025685
29 CATSPER1 NM_053054.4(CATSPER1):c.1544-11C>T SNV Uncertain significance 305426 rs567657527 GRCh37: 11:65789125-65789125
GRCh38: 11:66021654-66021654
30 CATSPER1 NM_053054.4(CATSPER1):c.1748T>G (p.Ile583Ser) SNV Uncertain significance 305423 rs760223439 GRCh37: 11:65788600-65788600
GRCh38: 11:66021129-66021129
31 CATSPER1 NM_053054.4(CATSPER1):c.292C>T (p.Leu98=) SNV Uncertain significance 305449 rs149064120 GRCh37: 11:65793559-65793559
GRCh38: 11:66026088-66026088
32 CATSPER1 NM_053054.4(CATSPER1):c.*23G>A SNV Uncertain significance 305415 rs373009756 GRCh37: 11:65784338-65784338
GRCh38: 11:66016867-66016867
33 CATSPER1 NM_053054.4(CATSPER1):c.1069C>T (p.Arg357Trp) SNV Uncertain significance 305435 rs764233008 GRCh37: 11:65792782-65792782
GRCh38: 11:66025311-66025311
34 CATSPER1 NM_053054.4(CATSPER1):c.1384G>A (p.Val462Ile) SNV Uncertain significance 305432 rs768194764 GRCh37: 11:65790365-65790365
GRCh38: 11:66022894-66022894
35 CATSPER1 NM_053054.4(CATSPER1):c.688C>T (p.Arg230Cys) SNV Uncertain significance 305444 rs113202862 GRCh37: 11:65793163-65793163
GRCh38: 11:66025692-66025692
36 CATSPER1 NM_053054.4(CATSPER1):c.761G>T (p.Gly254Val) SNV Uncertain significance 305441 rs199940038 GRCh37: 11:65793090-65793090
GRCh38: 11:66025619-66025619
37 CATSPER1 NM_053054.4(CATSPER1):c.947G>A (p.Gly316Asp) SNV Uncertain significance 305438 rs148686517 GRCh37: 11:65792904-65792904
GRCh38: 11:66025433-66025433
38 CATSPER1 NM_053054.4(CATSPER1):c.1544-6C>T SNV Uncertain significance 305424 rs147398525 GRCh37: 11:65789120-65789120
GRCh38: 11:66021649-66021649
39 CATSPER1 NM_053054.4(CATSPER1):c.1542G>A (p.Leu514=) SNV Uncertain significance 305427 rs886048520 GRCh37: 11:65789238-65789238
GRCh38: 11:66021767-66021767
40 CATSPER1 NM_053054.4(CATSPER1):c.144C>T (p.His48=) SNV Uncertain significance 305450 rs112725798 GRCh37: 11:65793707-65793707
GRCh38: 11:66026236-66026236
41 CATSPER1 NM_053054.4(CATSPER1):c.2126-13T>C SNV Uncertain significance 305416 rs369959435 GRCh37: 11:65786386-65786386
GRCh38: 11:66018915-66018915
42 CATSPER1 NM_053054.4(CATSPER1):c.996G>C (p.Arg332=) SNV Uncertain significance 711064 rs114764419 GRCh37: 11:65792855-65792855
GRCh38: 11:66025384-66025384
43 CATSPER1 NM_053054.4(CATSPER1):c.995G>A (p.Arg332Gln) SNV Uncertain significance 878018 GRCh37: 11:65792856-65792856
GRCh38: 11:66025385-66025385
44 CATSPER1 NM_053054.4(CATSPER1):c.-8G>A SNV Uncertain significance 878069 GRCh37: 11:65793858-65793858
GRCh38: 11:66026387-66026387
45 CATSPER1 NC_000011.10:g.66026515C>T SNV Uncertain significance 878070 GRCh37: 11:65793986-65793986
GRCh38: 11:66026515-66026515
46 CATSPER1 NM_053054.4(CATSPER1):c.*63G>A SNV Uncertain significance 878837 GRCh37: 11:65784298-65784298
GRCh38: 11:66016827-66016827
47 CATSPER1 NM_053054.4(CATSPER1):c.2269C>T (p.Arg757Cys) SNV Uncertain significance 878838 GRCh37: 11:65784578-65784578
GRCh38: 11:66017107-66017107
48 CATSPER1 NM_053054.4(CATSPER1):c.2244C>T (p.Ser748=) SNV Uncertain significance 878839 GRCh37: 11:65784603-65784603
GRCh38: 11:66017132-66017132
49 CATSPER1 NM_053054.4(CATSPER1):c.2202-8A>C SNV Uncertain significance 878840 GRCh37: 11:65784653-65784653
GRCh38: 11:66017182-66017182
50 CATSPER1 NM_053054.4(CATSPER1):c.1950C>T (p.Ile650=) SNV Uncertain significance 879419 GRCh37: 11:65788076-65788076
GRCh38: 11:66020605-66020605

Expression for Spermatogenic Failure 7

Search GEO for disease gene expression data for Spermatogenic Failure 7.

Pathways for Spermatogenic Failure 7

Pathways related to Spermatogenic Failure 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.51 CATSPER2 CATSPER1

GO Terms for Spermatogenic Failure 7

Cellular components related to Spermatogenic Failure 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.33 STRC CATSPER2 CATSPER1
2 motile cilium GO:0031514 9.26 CATSPER2 CATSPER1
3 cilium GO:0005929 9.13 STRC CATSPER2 CATSPER1
4 CatSper complex GO:0036128 8.62 CATSPER2 CATSPER1

Biological processes related to Spermatogenic Failure 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spermatogenesis GO:0007283 9.4 CATSPER2 CATSPER1
2 regulation of ion transmembrane transport GO:0034765 9.37 CATSPER2 CATSPER1
3 calcium ion transport GO:0006816 9.32 CATSPER2 CATSPER1
4 calcium ion transmembrane transport GO:0070588 9.26 CATSPER2 CATSPER1
5 flagellated sperm motility GO:0030317 9.16 CATSPER2 CATSPER1
6 response to progesterone GO:0032570 8.96 CATSPER2 CATSPER1
7 sperm-egg recognition GO:0035036 8.62 CATSPER2 CATSPER1

Molecular functions related to Spermatogenic Failure 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.26 CATSPER2 CATSPER1
2 voltage-gated ion channel activity GO:0005244 9.16 CATSPER2 CATSPER1
3 calcium channel activity GO:0005262 8.96 CATSPER2 CATSPER1
4 calcium activated cation channel activity GO:0005227 8.62 CATSPER2 CATSPER1

Sources for Spermatogenic Failure 7

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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