CILD6
MCID: CLR042
MIFTS: 34

Ciliary Dyskinesia, Primary, 6 (CILD6)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 6

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 6:

Name: Ciliary Dyskinesia, Primary, 6 57 72 29 13 6 70
Cild6 57 12 72
Primary Ciliary Dyskinesia 6 12 15
Dyskinesia, Ciliary, Primary, 6 39
Immotile Cilia Syndrome 6 72
Ics6 72

Characteristics:

OMIM®:

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

Miscellaneous:
genetic heterogeneity, see cild1


HPO:

31
ciliary dyskinesia, primary, 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110606
OMIM® 57 610852
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
MedGen 41 C1970506
UMLS 70 C1970506

Summaries for Ciliary Dyskinesia, Primary, 6

UniProtKB/Swiss-Prot : 72 Ciliary dyskinesia, primary, 6: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

MalaCards based summary : Ciliary Dyskinesia, Primary, 6, also known as cild6, is related to ciliary dyskinesia, primary, 13 and middle ear disease. An important gene associated with Ciliary Dyskinesia, Primary, 6 is NME8 (NME/NM23 Family Member 8). Affiliated tissues include heart and liver, and related phenotypes are recurrent respiratory infections and sinusitis

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has material basis in mutation in the TXNDC3 gene on the chromosome 7p14.1.

More information from OMIM: 610852 PS244400

Related Diseases for Ciliary Dyskinesia, Primary, 6

Diseases in the Primary Ciliary Dyskinesia family:

Ciliary Dyskinesia, Primary, 1 Ciliary Dyskinesia, Primary, 2
Ciliary Dyskinesia, Primary, 3 Ciliary Dyskinesia, Primary, 4
Ciliary Dyskinesia, Primary, 5 Ciliary Dyskinesia, Primary, 6
Ciliary Dyskinesia, Primary, 7 Ciliary Dyskinesia, Primary, 8
Ciliary Dyskinesia, Primary, 9 Ciliary Dyskinesia, Primary, 10
Ciliary Dyskinesia, Primary, 11 Ciliary Dyskinesia, Primary, 12
Ciliary Dyskinesia, Primary, 13 Ciliary Dyskinesia, Primary, 14
Ciliary Dyskinesia, Primary, 15 Ciliary Dyskinesia, Primary, 16
Ciliary Dyskinesia, Primary, 17 Ciliary Dyskinesia, Primary, 18
Ciliary Dyskinesia, Primary, 19 Ciliary Dyskinesia, Primary, 20
Ciliary Dyskinesia, Primary, 21 Ciliary Dyskinesia, Primary, 22
Ciliary Dyskinesia, Primary, 23 Ciliary Dyskinesia, Primary, 24
Ciliary Dyskinesia, Primary, 25 Ciliary Dyskinesia, Primary, 26
Ciliary Dyskinesia, Primary, 27 Ciliary Dyskinesia, Primary, 28
Ciliary Dyskinesia, Primary, 29 Ciliary Dyskinesia, Primary, 30
Ciliary Dyskinesia, Primary, 32 Ciliary Dyskinesia, Primary, 33
Ciliary Dyskinesia, Primary, 34 Ciliary Dyskinesia, Primary, 35
Ciliary Dyskinesia, Primary, 37 Ciliary Dyskinesia, Primary, 38
Ciliary Dyskinesia, Primary, 39 Ciliary Dyskinesia, Primary, 40
Ciliary Dyskinesia, Primary, 41 Ciliary Dyskinesia, Primary, 42
Ciliary Dyskinesia, Primary, 43 Ciliary Dyskinesia, Primary, 44
Ciliary Dyskinesia, Primary, 45 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules

Diseases related to Ciliary Dyskinesia, Primary, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 13 9.7 RSPH9 RSPH4A
2 middle ear disease 9.6 RSPH9 RSPH4A
3 paranasal sinus disease 9.6 RSPH9 RSPH4A
4 rigid spine muscular dystrophy 1 9.5 RSPH9 RSPH4A
5 ciliary dyskinesia, primary, 1 9.5 RSPH9 RSPH4A NME8
6 ciliary dyskinesia, primary, 10 9.5 RSPH9 RSPH4A NME8
7 ciliary dyskinesia, primary, 9 9.5 RSPH9 RSPH4A NME8
8 situs inversus 9.5 RSPH9 RSPH4A NME8
9 visceral heterotaxy 9.5 RSPH9 RSPH4A NME8
10 kartagener syndrome 9.4 RSPH9 RSPH4A NME8
11 bronchiectasis 9.4 RSPH9 RSPH4A
12 primary ciliary dyskinesia 9.2 TMX1 RSPH9 RSPH4A NME8

Graphical network of the top 20 diseases related to Ciliary Dyskinesia, Primary, 6:



Diseases related to Ciliary Dyskinesia, Primary, 6

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 6

Human phenotypes related to Ciliary Dyskinesia, Primary, 6:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 sinusitis 31 HP:0000246
3 ciliary dyskinesia 31 HP:0012265
4 recurrent sinusitis 31 HP:0011108
5 abnormal ciliary motility 31 HP:0012262
6 absent/shortened outer dynein arms 31 HP:0200109

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
recurrent sinusitis

Cardiovascular Heart:
centrally located heart

Respiratory Lung:
bronchiectasis due to poor ciliary clearance

Abdomen Liver:
centrally located liver

Head And Neck Ears:
recurrent serous otitis

Respiratory:
recurrent respiratory infections due to ciliary dysfunction
respiratory cilia have shortened or absent outer dynein arms

Abdomen:
situs ambiguus

Immunology:
recurrent infections due to ciliary dysfunction

Clinical features from OMIM®:

610852 (Updated 20-May-2021)

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 6

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 6

Genetic Tests for Ciliary Dyskinesia, Primary, 6

Genetic tests related to Ciliary Dyskinesia, Primary, 6:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 6 29 NME8

Anatomical Context for Ciliary Dyskinesia, Primary, 6

MalaCards organs/tissues related to Ciliary Dyskinesia, Primary, 6:

40
Heart, Liver

Publications for Ciliary Dyskinesia, Primary, 6

Articles related to Ciliary Dyskinesia, Primary, 6:

# Title Authors PMID Year
1
A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. 57 6
17360648 2007
2
Extending the interval between second vaccination and slaughter: II. Changes in the reproductive capacity of immunocastrated ram lambs. 61
30651155 2019
3
Extending the interval between second vaccination and slaughter: I. Effects on growth, scrotal size and stress responses of immunocastrated ram lambs. 61
30654851 2019
4
Sonographic Bedside Quantification of Pleural Effusion Compared to Computed Tomography Volumetry in ICU Patients. 61
30374471 2018

Variations for Ciliary Dyskinesia, Primary, 6

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 6:

6 (show top 50) (show all 91)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NME8 NM_016616.5(NME8):c.1277T>A (p.Leu426Ter) SNV Pathogenic 3256 rs121918300 GRCh37: 7:37927908-37927908
GRCh38: 7:37888306-37888306
2 NME8 NM_016616.5(NME8):c.303_304insTT (p.Asn102fs) Insertion Pathogenic 1033834 GRCh37: 7:37901662-37901663
GRCh38: 7:37862060-37862061
3 NME8 NM_016616.5(NME8):c.438dup (p.Pro147fs) Duplication Pathogenic 1033835 GRCh37: 7:37903047-37903048
GRCh38: 7:37863445-37863446
4 NME8 NM_016616.5(NME8):c.1657C>T (p.Arg553Ter) SNV Conflicting interpretations of pathogenicity 536823 rs145721687 GRCh37: 7:37936584-37936584
GRCh38: 7:37896982-37896982
5 NME8 NM_016616.5(NME8):c.1600C>T (p.Arg534Ter) SNV Conflicting interpretations of pathogenicity 696082 rs142525551 GRCh37: 7:37936527-37936527
GRCh38: 7:37896925-37896925
6 NME8 NM_016616.5(NME8):c.995A>G (p.Asp332Gly) SNV Uncertain significance 957206 GRCh37: 7:37923905-37923905
GRCh38: 7:37884303-37884303
7 NME8 NM_016616.5(NME8):c.953C>G (p.Thr318Arg) SNV Uncertain significance 1052344 GRCh37: 7:37916568-37916568
GRCh38: 7:37876966-37876966
8 NME8 NM_016616.5(NME8):c.171C>G (p.Asn57Lys) SNV Uncertain significance 1053075 GRCh37: 7:37890310-37890310
GRCh38: 7:37850708-37850708
9 NME8 NM_016616.5(NME8):c.1459T>A (p.Phe487Ile) SNV Uncertain significance 1053136 GRCh37: 7:37934127-37934127
GRCh38: 7:37894525-37894525
10 NME8 NM_016616.5(NME8):c.679G>A (p.Val227Ile) SNV Uncertain significance 1061153 GRCh37: 7:37907361-37907361
GRCh38: 7:37867759-37867759
11 NME8 NM_016616.5(NME8):c.244T>A (p.Cys82Ser) SNV Uncertain significance 643950 rs771622383 GRCh37: 7:37896921-37896921
GRCh38: 7:37857319-37857319
12 NME8 NM_016616.5(NME8):c.967C>A (p.Arg323=) SNV Uncertain significance 645844 rs374455803 GRCh37: 7:37916582-37916582
GRCh38: 7:37876980-37876980
13 NME8 NM_016616.5(NME8):c.1295A>G (p.Tyr432Cys) SNV Uncertain significance 861776 GRCh37: 7:37927926-37927926
GRCh38: 7:37888324-37888324
14 NME8 NM_016616.5(NME8):c.1545G>A (p.Val515=) SNV Uncertain significance 1013923 GRCh37: 7:37936472-37936472
GRCh38: 7:37896870-37896870
15 NME8 NM_016616.5(NME8):c.1299C>T (p.Gly433=) SNV Uncertain significance 1014712 GRCh37: 7:37927930-37927930
GRCh38: 7:37888328-37888328
16 NME8 NM_016616.5(NME8):c.1600C>G (p.Arg534Gly) SNV Uncertain significance 1017316 GRCh37: 7:37936527-37936527
GRCh38: 7:37896925-37896925
17 NME8 NM_016616.5(NME8):c.365C>G (p.Ala122Gly) SNV Uncertain significance 1019571 GRCh37: 7:37901724-37901724
GRCh38: 7:37862122-37862122
18 NME8 NM_016616.5(NME8):c.23T>A (p.Val8Asp) SNV Uncertain significance 1027035 GRCh37: 7:37889891-37889891
GRCh38: 7:37850289-37850289
19 NME8 NM_016616.5(NME8):c.1648G>T (p.Asp550Tyr) SNV Uncertain significance 468994 rs772853800 GRCh37: 7:37936575-37936575
GRCh38: 7:37896973-37896973
20 NME8 NM_016616.5(NME8):c.1341C>A (p.Phe447Leu) SNV Uncertain significance 578403 rs201867197 GRCh37: 7:37927972-37927972
GRCh38: 7:37888370-37888370
21 NME8 NM_016616.5(NME8):c.1519A>G (p.Lys507Glu) SNV Uncertain significance 834901 GRCh37: 7:37934187-37934187
GRCh38: 7:37894585-37894585
22 NME8 NM_016616.5(NME8):c.367G>T (p.Gly123Cys) SNV Uncertain significance 959315 GRCh37: 7:37901726-37901726
GRCh38: 7:37862124-37862124
23 NME8 NM_016616.5(NME8):c.468T>A (p.Ser156Arg) SNV Uncertain significance 848568 GRCh37: 7:37903963-37903963
GRCh38: 7:37864361-37864361
24 NME8 NM_016616.5(NME8):c.1169G>C (p.Arg390Thr) SNV Uncertain significance 863904 GRCh37: 7:37924776-37924776
GRCh38: 7:37885174-37885174
25 NME8 NM_016616.5(NME8):c.1563G>A (p.Met521Ile) SNV Uncertain significance 943861 GRCh37: 7:37936490-37936490
GRCh38: 7:37896888-37896888
26 NME8 NM_016616.5(NME8):c.819-3C>G SNV Uncertain significance 952315 GRCh37: 7:37916431-37916431
GRCh38: 7:37876829-37876829
27 NME8 NM_016616.5(NME8):c.53G>A (p.Ser18Asn) SNV Uncertain significance 963372 GRCh37: 7:37889999-37889999
GRCh38: 7:37850397-37850397
28 NME8 NM_016616.5(NME8):c.1624G>C (p.Glu542Gln) SNV Uncertain significance 1036346 GRCh37: 7:37936551-37936551
GRCh38: 7:37896949-37896949
29 NME8 NM_016616.5(NME8):c.706C>T (p.Pro236Ser) SNV Uncertain significance 1037079 GRCh37: 7:37907388-37907388
GRCh38: 7:37867786-37867786
30 NME8 NM_016616.5(NME8):c.994+6G>C SNV Uncertain significance 409676 rs1060502528 GRCh37: 7:37916615-37916615
GRCh38: 7:37877013-37877013
31 NME8 NM_016616.5(NME8):c.270+5G>A SNV Uncertain significance 536827 rs1263698487 GRCh37: 7:37896952-37896952
GRCh38: 7:37857350-37857350
32 NME8 NM_016616.5(NME8):c.311C>T (p.Pro104Leu) SNV Uncertain significance 565917 rs567620217 GRCh37: 7:37901670-37901670
GRCh38: 7:37862068-37862068
33 NME8 NM_016616.5(NME8):c.1735A>G (p.Asn579Asp) SNV Uncertain significance 580084 rs775868906 GRCh37: 7:37936662-37936662
GRCh38: 7:37897060-37897060
34 NME8 NM_016616.4(NME8):c.1400-?_*15+?dup Duplication Uncertain significance 241111 GRCh37:
GRCh38:
35 NME8 NM_016616.5(NME8):c.1684A>G (p.Lys562Glu) SNV Uncertain significance 409675 rs370146151 GRCh37: 7:37936611-37936611
GRCh38: 7:37897009-37897009
36 NME8 NM_016616.5(NME8):c.82G>T (p.Gly28Cys) SNV Uncertain significance 409678 rs780172047 GRCh37: 7:37890028-37890028
GRCh38: 7:37850426-37850426
37 NME8 NM_016616.5(NME8):c.77A>G (p.Asn26Ser) SNV Uncertain significance 468997 rs1554360744 GRCh37: 7:37890023-37890023
GRCh38: 7:37850421-37850421
38 NME8 NM_016616.5(NME8):c.749A>G (p.Glu250Gly) SNV Uncertain significance 468996 rs1554363589 GRCh37: 7:37907431-37907431
GRCh38: 7:37867829-37867829
39 NME8 NM_016616.5(NME8):c.1643C>T (p.Ser548Phe) SNV Uncertain significance 580841 rs199621229 GRCh37: 7:37936570-37936570
GRCh38: 7:37896968-37896968
40 NME8 NM_016616.5(NME8):c.743C>A (p.Pro248His) SNV Uncertain significance 837987 GRCh37: 7:37907425-37907425
GRCh38: 7:37867823-37867823
41 NME8 NM_016616.5(NME8):c.1588G>C (p.Ala530Pro) SNV Uncertain significance 651277 rs536891365 GRCh37: 7:37936515-37936515
GRCh38: 7:37896913-37896913
42 NME8 NM_016616.5(NME8):c.965T>C (p.Leu322Pro) SNV Uncertain significance 651928 rs1583637336 GRCh37: 7:37916580-37916580
GRCh38: 7:37876978-37876978
43 NME8 NM_016616.5(NME8):c.529A>T (p.Ile177Phe) SNV Uncertain significance 657867 rs372584831 GRCh37: 7:37905127-37905127
GRCh38: 7:37865525-37865525
44 NME8 NM_016616.5(NME8):c.989G>A (p.Arg330Lys) SNV Uncertain significance 658309 rs758607187 GRCh37: 7:37916604-37916604
GRCh38: 7:37877002-37877002
45 NME8 NM_016616.5(NME8):c.668A>G (p.Tyr223Cys) SNV Uncertain significance 662571 rs200582084 GRCh37: 7:37907350-37907350
GRCh38: 7:37867748-37867748
46 NME8 NM_016616.5(NME8):c.88A>G (p.Thr30Ala) SNV Uncertain significance 536824 rs199920317 GRCh37: 7:37890034-37890034
GRCh38: 7:37850432-37850432
47 NME8 NM_016616.5(NME8):c.1231G>A (p.Glu411Lys) SNV Uncertain significance 649144 rs778757785 GRCh37: 7:37924838-37924838
GRCh38: 7:37885236-37885236
48 NME8 NM_016616.5(NME8):c.1395_1396del (p.Glu467fs) Deletion Uncertain significance 936548 GRCh37: 7:37928025-37928026
GRCh38: 7:37888423-37888424
49 NME8 NM_016616.5(NME8):c.608G>A (p.Arg203Gln) SNV Uncertain significance 961377 GRCh37: 7:37905206-37905206
GRCh38: 7:37865604-37865604
50 NME8 NM_016616.5(NME8):c.772G>T (p.Val258Phe) SNV Uncertain significance 961378 GRCh37: 7:37907454-37907454
GRCh38: 7:37867852-37867852

Expression for Ciliary Dyskinesia, Primary, 6

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 6.

Pathways for Ciliary Dyskinesia, Primary, 6

GO Terms for Ciliary Dyskinesia, Primary, 6

Cellular components related to Ciliary Dyskinesia, Primary, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 motile cilium GO:0031514 9.16 RSPH9 RSPH4A
2 axoneme GO:0005930 9.13 RSPH9 RSPH4A NME8
3 radial spoke GO:0001534 8.62 RSPH9 RSPH4A

Biological processes related to Ciliary Dyskinesia, Primary, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.33 RSPH9 RSPH4A NME8
2 cell redox homeostasis GO:0045454 9.32 TMX1 NME8
3 cilium movement GO:0003341 9.26 RSPH9 RSPH4A
4 axoneme assembly GO:0035082 8.96 RSPH9 RSPH4A
5 cilium movement involved in cell motility GO:0060294 8.62 RSPH9 RSPH4A

Sources for Ciliary Dyskinesia, Primary, 6

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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