MCID: RRM015
MIFTS: 13

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 58

Classifications:

Orphanet: 58  
Rare infertility disorders


External Ids:

UMLS via Orphanet 72 C0021364
Orphanet 58 ORPHA98048

Summaries for Rare Male Infertility

MalaCards based summary : Rare Male Infertility is related to rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin and rare male infertility due to hypothalamic-pituitary-gonadal axis disorder. An important gene associated with Rare Male Infertility is CLDN2 (Claudin 2). Affiliated tissues include pituitary.

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

MalaCards organs/tissues related to Rare Male Infertility:

40
Pituitary

Publications for Rare Male Infertility

Variations for Rare Male Infertility

ClinVar genetic disease variations for Rare Male Infertility:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLDN2 NM_020384.4(CLDN2):c.481G>C (p.Gly161Arg)SNV Pathogenic 488651 rs1555979575 X:106171939-106171939 X:106928709-106928709
2 HOXD13 NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)SNV Conflicting interpretations of pathogenicity 374019 rs200750564 2:176959246-176959246 2:176094518-176094518
3 CATSPER1 NM_053054.4(CATSPER1):c.883C>T (p.Arg295Trp)SNV Conflicting interpretations of pathogenicity 305439 rs150803613 11:65792968-65792968 11:66025497-66025497
4 CATSPER1 NM_053054.4(CATSPER1):c.1544-6C>TSNV Conflicting interpretations of pathogenicity 305424 rs147398525 11:65789120-65789120 11:66021649-66021649
5 CATSPER1 NM_053054.4(CATSPER1):c.333C>T (p.Tyr111=)SNV Conflicting interpretations of pathogenicity 305448 rs575875557 11:65793518-65793518 11:66026047-66026047
6 CATSPER1 NM_053054.4(CATSPER1):c.688C>T (p.Arg230Cys)SNV Conflicting interpretations of pathogenicity 305444 rs113202862 11:65793163-65793163 11:66025692-66025692
7 CATSPER1 NM_053054.4(CATSPER1):c.144C>T (p.His48=)SNV Conflicting interpretations of pathogenicity 305450 rs112725798 11:65793707-65793707 11:66026236-66026236
8 CATSPER1 NM_053054.4(CATSPER1):c.970C>G (p.Gln324Glu)SNV Uncertain significance 305437 rs773285320 11:65792881-65792881 11:66025410-66025410
9 CATSPER1 NM_053054.4(CATSPER1):c.2064+6G>ASNV Uncertain significance 305420 rs143930161 11:65787782-65787782 11:66020311-66020311
10 CATSPER1 NM_053054.4(CATSPER1):c.1542G>A (p.Leu514=)SNV Uncertain significance 305427 rs886048520 11:65789238-65789238 11:66021767-66021767
11 CATSPER1 NM_053054.4(CATSPER1):c.1444G>A (p.Ala482Thr)SNV Uncertain significance 305431 rs886048521 11:65789336-65789336 11:66021865-66021865
12 CATSPER1 NM_053054.4(CATSPER1):c.402G>A (p.Gly134=)SNV Uncertain significance 305446 rs370953416 11:65793449-65793449 11:66025978-66025978
13 CATSPER1 NM_053054.4(CATSPER1):c.55G>A (p.Ala19Thr)SNV Uncertain significance 305451 rs775284326 11:65793796-65793796 11:66026325-66026325
14 CATSPER1 NM_053054.4(CATSPER1):c.1884G>A (p.Thr628=)SNV Uncertain significance 305422 rs370158610 11:65788325-65788325 11:66020854-66020854
15 CATSPER1 NM_053054.4(CATSPER1):c.1445C>G (p.Ala482Gly)SNV Uncertain significance 305430 rs202004405 11:65789335-65789335 11:66021864-66021864
16 CATSPER1 NM_053054.4(CATSPER1):c.1045T>G (p.Phe349Val)SNV Uncertain significance 305436 rs754953178 11:65792806-65792806 11:66025335-66025335
17 CATSPER1 NM_053054.4(CATSPER1):c.947G>A (p.Gly316Asp)SNV Uncertain significance 305438 rs148686517 11:65792904-65792904 11:66025433-66025433
18 CATSPER1 NM_053054.4(CATSPER1):c.761G>T (p.Gly254Val)SNV Uncertain significance 305441 rs199940038 11:65793090-65793090 11:66025619-66025619
19 CATSPER1 NM_053054.4(CATSPER1):c.695A>T (p.His232Leu)SNV Uncertain significance 305443 rs149769183 11:65793156-65793156 11:66025685-66025685
20 CATSPER1 NM_053054.4(CATSPER1):c.-23deldeletion Uncertain significance 305453 rs886048524 11:65793873-65793873 11:66026402-66026402
21 CATSPER1 NM_053054.4(CATSPER1):c.2126-13T>CSNV Uncertain significance 305416 rs369959435 11:65786386-65786386 11:66018915-66018915
22 CATSPER1 NM_053054.4(CATSPER1):c.1544-10G>ASNV Uncertain significance 305425 rs764182570 11:65789124-65789124 11:66021653-66021653
23 CATSPER1 NM_053054.4(CATSPER1):c.1384G>A (p.Val462Ile)SNV Uncertain significance 305432 rs768194764 11:65790365-65790365 11:66022894-66022894
24 CATSPER1 NM_053054.4(CATSPER1):c.1195G>A (p.Gly399Arg)SNV Uncertain significance 305434 rs886048522 11:65792656-65792656 11:66025185-66025185
25 CATSPER1 NM_053054.4(CATSPER1):c.1069C>T (p.Arg357Trp)SNV Uncertain significance 305435 rs764233008 11:65792782-65792782 11:66025311-66025311
26 CATSPER1 NM_053054.4(CATSPER1):c.813T>C (p.Asp271=)SNV Uncertain significance 305440 rs371489713 11:65793038-65793038 11:66025567-66025567
27 CATSPER1 NM_053054.4(CATSPER1):c.504C>T (p.His168=)SNV Uncertain significance 305445 rs886048523 11:65793347-65793347 11:66025876-66025876
28 MYO6 NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr)SNV Uncertain significance 45153 rs202214380 6:76608128-76608128 6:75898411-75898411
29 46;XY;t(20;22)(q13.3;q11.2)Translocation Uncertain significance 267893
30 46;XY;t(12;14)(q15;q13)matTranslocation Uncertain significance 267936
31 46;XY;t(7;12)(q21;q21)dnTranslocation Uncertain significance 268031
32 CATSPER1 NM_053054.4(CATSPER1):c.*122_*123AG[1]short repeat Uncertain significance 305413 rs764701805 11:65784236-65784237 11:66016765-66016766
33 CATSPER1 NM_053054.4(CATSPER1):c.*23G>ASNV Uncertain significance 305415 rs373009756 11:65784338-65784338 11:66016867-66016867
34 CATSPER1 NM_053054.4(CATSPER1):c.2109G>A (p.Thr703=)SNV Uncertain significance 305417 rs139275824 11:65787627-65787627 11:66020156-66020156
35 CATSPER1 NM_053054.4(CATSPER1):c.1748T>G (p.Ile583Ser)SNV Uncertain significance 305423 rs760223439 11:65788600-65788600 11:66021129-66021129
36 CATSPER1 NM_053054.4(CATSPER1):c.292C>T (p.Leu98=)SNV Uncertain significance 305449 rs149064120 11:65793559-65793559 11:66026088-66026088
37 CATSPER1 NM_053054.4(CATSPER1):c.*96G>ASNV Uncertain significance 305414 rs1783566 11:65784265-65784265 11:66016794-66016794
38 CATSPER1 NM_053054.4(CATSPER1):c.2108C>T (p.Thr703Met)SNV Uncertain significance 305418 rs373771804 11:65787628-65787628 11:66020157-66020157
39 CATSPER1 NM_053054.4(CATSPER1):c.1544-11C>TSNV Uncertain significance 305426 rs567657527 11:65789125-65789125 11:66021654-66021654
40 CATSPER1 NM_053054.4(CATSPER1):c.1514C>T (p.Ser505Leu)SNV Uncertain significance 305428 rs74484098 11:65789266-65789266 11:66021795-66021795
41 CATSPER1 NM_053054.4(CATSPER1):c.54C>T (p.Asn18=)SNV Likely benign 305452 rs1893316 11:65793797-65793797 11:66026326-66026326
42 CATSPER1 NM_053054.4(CATSPER1):c.-92T>CSNV Likely benign 305455 rs947847 11:65793942-65793942 11:66026471-66026471
43 CATSPER1 NM_053054.4(CATSPER1):c.397G>A (p.Gly133Ser)SNV Likely benign 305447 rs1203998 11:65793454-65793454 11:66025983-66025983
44 CATSPER1 NM_053054.4(CATSPER1):c.2070C>T (p.Ala690=)SNV Likely benign 305419 rs3829937 11:65787666-65787666 11:66020195-66020195
45 CATSPER1 NM_053054.4(CATSPER1):c.1222C>A (p.Arg408=)SNV Likely benign 305433 rs2845570 11:65790527-65790527 11:66023056-66023056
46 CATSPER1 NM_053054.4(CATSPER1):c.730G>A (p.Gly244Arg)SNV Likely benign 305442 rs79062509 11:65793121-65793121 11:66025650-66025650
47 CATSPER1 NM_053054.4(CATSPER1):c.-25deldeletion Likely benign 305454 rs3841469 11:65793875-65793875 11:66026404-66026404
48 CATSPER1 NM_053054.4(CATSPER1):c.1467C>T (p.Cys489=)SNV Benign/Likely benign 305429 rs75366838 11:65789313-65789313 11:66021842-66021842
49 CATSPER1 NM_053054.4(CATSPER1):c.1954G>A (p.Val652Ile)SNV Benign 305421 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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