MCID: RRM015
MIFTS: 12

Rare Male Infertility

Categories: Endocrine diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Rare Male Infertility

MalaCards integrated aliases for Rare Male Infertility:

Name: Rare Male Infertility 59

Classifications:

Orphanet: 59  
Rare infertility disorders


External Ids:

UMLS via Orphanet 73 C0021364
Orphanet 59 ORPHA98048

Summaries for Rare Male Infertility

Related Diseases for Rare Male Infertility

Graphical network of the top 20 diseases related to Rare Male Infertility:



Diseases related to Rare Male Infertility

Symptoms & Phenotypes for Rare Male Infertility

Drugs & Therapeutics for Rare Male Infertility

Search Clinical Trials , NIH Clinical Center for Rare Male Infertility

Genetic Tests for Rare Male Infertility

Anatomical Context for Rare Male Infertility

Publications for Rare Male Infertility

Variations for Rare Male Infertility

ClinVar genetic disease variations for Rare Male Infertility:

6 (show all 49)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CLDN2 NM_020384.4(CLDN2): c.481G> C (p.Gly161Arg) single nucleotide variant Pathogenic rs1555979575 X:106171939-106171939 X:106928709-106928709
2 HOXD13 NM_000523.4(HOXD13): c.820C> T (p.Arg274Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200750564 2:176959246-176959246 2:176094518-176094518
3 CATSPER1 NM_053054.4(CATSPER1): c.292C> T (p.Leu98=) single nucleotide variant Uncertain significance rs149064120 11:65793559-65793559 11:66026088-66026088
4 CATSPER1 NM_053054.4(CATSPER1): c.970C> G (p.Gln324Glu) single nucleotide variant Uncertain significance rs773285320 11:65792881-65792881 11:66025410-66025410
5 CATSPER1 NM_053054.4(CATSPER1): c.883C> T (p.Arg295Trp) single nucleotide variant Uncertain significance rs150803613 11:65792968-65792968 11:66025497-66025497
6 MYO6 NM_004999.4(MYO6): c.3176G> C (p.Arg1059Thr) single nucleotide variant Uncertain significance rs202214380 6:76608128-76608128 6:75898411-75898411
7 46;XY;t(20;22)(q13.3;q11.2) Translocation Uncertain significance
8 46;XY;t(12;14)(q15;q13)mat Translocation Uncertain significance
9 46;XY;t(7;12)(q21;q21)dn Translocation Uncertain significance
10 CATSPER1 NM_053054.4(CATSPER1): c.*122_*123AG[1] short repeat Uncertain significance rs764701805 11:65784236-65784237 11:66016765-66016766
11 CATSPER1 NM_053054.4(CATSPER1): c.*23G> A single nucleotide variant Uncertain significance rs373009756 11:65784338-65784338 11:66016867-66016867
12 CATSPER1 NM_053054.4(CATSPER1): c.2109G> A (p.Thr703=) single nucleotide variant Uncertain significance rs139275824 11:65787627-65787627 11:66020156-66020156
13 CATSPER1 NM_053054.4(CATSPER1): c.1748T> G (p.Ile583Ser) single nucleotide variant Uncertain significance rs760223439 11:65788600-65788600 11:66021129-66021129
14 CATSPER1 NM_053054.4(CATSPER1): c.1544-6C> T single nucleotide variant Uncertain significance rs147398525 11:65789120-65789120 11:66021649-66021649
15 CATSPER1 NM_053054.4(CATSPER1): c.1544-10G> A single nucleotide variant Uncertain significance rs764182570 11:65789124-65789124 11:66021653-66021653
16 CATSPER1 NM_053054.4(CATSPER1): c.1384G> A (p.Val462Ile) single nucleotide variant Uncertain significance rs768194764 11:65790365-65790365 11:66022894-66022894
17 CATSPER1 NM_053054.4(CATSPER1): c.1195G> A (p.Gly399Arg) single nucleotide variant Uncertain significance rs886048522 11:65792656-65792656 11:66025185-66025185
18 CATSPER1 NM_053054.4(CATSPER1): c.1069C> T (p.Arg357Trp) single nucleotide variant Uncertain significance rs764233008 11:65792782-65792782 11:66025311-66025311
19 CATSPER1 NM_053054.4(CATSPER1): c.813T> C (p.Asp271=) single nucleotide variant Uncertain significance rs371489713 11:65793038-65793038 11:66025567-66025567
20 CATSPER1 NM_053054.4(CATSPER1): c.504C> T (p.His168=) single nucleotide variant Uncertain significance rs886048523 11:65793347-65793347 11:66025876-66025876
21 CATSPER1 NM_053054.4(CATSPER1): c.333C> T (p.Tyr111=) single nucleotide variant Uncertain significance rs575875557 11:65793518-65793518 11:66026047-66026047
22 CATSPER1 NM_053054.4(CATSPER1): c.-23del deletion Uncertain significance rs886048524 11:65793873-65793873 11:66026402-66026402
23 CATSPER1 NM_053054.4(CATSPER1): c.2126-13T> C single nucleotide variant Uncertain significance rs369959435 11:65786386-65786386 11:66018915-66018915
24 CATSPER1 NM_053054.4(CATSPER1): c.402G> A (p.Gly134=) single nucleotide variant Uncertain significance rs370953416 11:65793449-65793449 11:66025978-66025978
25 CATSPER1 NM_053054.4(CATSPER1): c.55G> A (p.Ala19Thr) single nucleotide variant Uncertain significance rs775284326 11:65793796-65793796 11:66026325-66026325
26 CATSPER1 NM_053054.4(CATSPER1): c.1884G> A (p.Thr628=) single nucleotide variant Uncertain significance rs370158610 11:65788325-65788325 11:66020854-66020854
27 CATSPER1 NM_053054.4(CATSPER1): c.1445C> G (p.Ala482Gly) single nucleotide variant Uncertain significance rs202004405 11:65789335-65789335 11:66021864-66021864
28 CATSPER1 NM_053054.4(CATSPER1): c.1045T> G (p.Phe349Val) single nucleotide variant Uncertain significance rs754953178 11:65792806-65792806 11:66025335-66025335
29 CATSPER1 NM_053054.4(CATSPER1): c.947G> A (p.Gly316Asp) single nucleotide variant Uncertain significance rs148686517 11:65792904-65792904 11:66025433-66025433
30 CATSPER1 NM_053054.4(CATSPER1): c.761G> T (p.Gly254Val) single nucleotide variant Uncertain significance rs199940038 11:65793090-65793090 11:66025619-66025619
31 CATSPER1 NM_053054.4(CATSPER1): c.695A> T (p.His232Leu) single nucleotide variant Uncertain significance rs149769183 11:65793156-65793156 11:66025685-66025685
32 CATSPER1 NM_053054.4(CATSPER1): c.688C> T (p.Arg230Cys) single nucleotide variant Uncertain significance rs113202862 11:65793163-65793163 11:66025692-66025692
33 CATSPER1 NM_053054.4(CATSPER1): c.144C> T (p.His48=) single nucleotide variant Uncertain significance rs112725798 11:65793707-65793707 11:66026236-66026236
34 CATSPER1 NM_053054.4(CATSPER1): c.2064+6G> A single nucleotide variant Uncertain significance rs143930161 11:65787782-65787782 11:66020311-66020311
35 CATSPER1 NM_053054.4(CATSPER1): c.1542G> A (p.Leu514=) single nucleotide variant Uncertain significance rs886048520 11:65789238-65789238 11:66021767-66021767
36 CATSPER1 NM_053054.4(CATSPER1): c.1444G> A (p.Ala482Thr) single nucleotide variant Uncertain significance rs886048521 11:65789336-65789336 11:66021865-66021865
37 CATSPER1 NM_053054.4(CATSPER1): c.*96G> A single nucleotide variant Uncertain significance rs1783566 11:65784265-65784265 11:66016794-66016794
38 CATSPER1 NM_053054.4(CATSPER1): c.2108C> T (p.Thr703Met) single nucleotide variant Uncertain significance rs373771804 11:65787628-65787628 11:66020157-66020157
39 CATSPER1 NM_053054.4(CATSPER1): c.1544-11C> T single nucleotide variant Uncertain significance rs567657527 11:65789125-65789125 11:66021654-66021654
40 CATSPER1 NM_053054.4(CATSPER1): c.1514C> T (p.Ser505Leu) single nucleotide variant Uncertain significance rs74484098 11:65789266-65789266 11:66021795-66021795
41 CATSPER1 NM_053054.4(CATSPER1): c.1467C> T (p.Cys489=) single nucleotide variant Likely benign rs75366838 11:65789313-65789313 11:66021842-66021842
42 CATSPER1 NM_053054.4(CATSPER1): c.1222C> A (p.Arg408=) single nucleotide variant Likely benign rs2845570 11:65790527-65790527 11:66023056-66023056
43 CATSPER1 NM_053054.4(CATSPER1): c.-25del deletion Likely benign rs3841469 11:65793875-65793875 11:66026404-66026404
44 CATSPER1 NM_053054.4(CATSPER1): c.2070C> T (p.Ala690=) single nucleotide variant Likely benign rs3829937 11:65787666-65787666 11:66020195-66020195
45 CATSPER1 NM_053054.4(CATSPER1): c.397G> A (p.Gly133Ser) single nucleotide variant Likely benign rs1203998 11:65793454-65793454 11:66025983-66025983
46 CATSPER1 NM_053054.4(CATSPER1): c.730G> A (p.Gly244Arg) single nucleotide variant Likely benign rs79062509 11:65793121-65793121 11:66025650-66025650
47 CATSPER1 NM_053054.4(CATSPER1): c.54C> T (p.Asn18=) single nucleotide variant Likely benign rs1893316 11:65793797-65793797 11:66026326-66026326
48 CATSPER1 NM_053054.4(CATSPER1): c.-92T> C single nucleotide variant Likely benign rs947847 11:65793942-65793942 11:66026471-66026471
49 CATSPER1 NM_053054.4(CATSPER1): c.1954G> A (p.Val652Ile) single nucleotide variant Benign rs3814747 11:65788072-65788072 11:66020601-66020601

Expression for Rare Male Infertility

Search GEO for disease gene expression data for Rare Male Infertility.

Pathways for Rare Male Infertility

GO Terms for Rare Male Infertility

Sources for Rare Male Infertility

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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