CILD6
MCID: CLR042
MIFTS: 22

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 75 29 13 6 73
Cild6 57 12 75
Dyskinesia, Ciliary, Primary, 6 40
Primary Ciliary Dyskinesia 6 12
Immotile Cilia Syndrome 6 75
Ics6 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity, see cild1


HPO:

32
ciliary dyskinesia, primary, 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610852
Disease Ontology 12 DOID:0110606
ICD10 33 Q34.8
MedGen 42 C1970506
MeSH 44 D007619
UMLS 73 C1970506

Summaries for Ciliary Dyskinesia, Primary, 6

UniProtKB/Swiss-Prot : 75 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, is also known as cild6. An important gene associated with Ciliary Dyskinesia, Primary, 6 is NME8 (NME/NM23 Family Member 8). Affiliated tissues include liver and heart, 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.

Description from OMIM: 610852

Related Diseases for Ciliary Dyskinesia, Primary, 6

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 6

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
recurrent sinusitis

Cardiovascular Heart:
centrally located heart

Respiratory Lung:
brochiectasis 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

Human phenotypes related to Ciliary Dyskinesia, Primary, 6:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 sinusitis 32 HP:0000246
3 ciliary dyskinesia 32 HP:0012265
4 recurrent sinusitis 32 HP:0011108
5 abnormal ciliary motility 32 HP:0012262
6 absent/shortened outer dynein arms 32 HP:0200109

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:

41
Liver, Heart

Publications for Ciliary Dyskinesia, Primary, 6

Variations for Ciliary Dyskinesia, Primary, 6

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

6 (show top 50) (show all 89)
# Gene Variation Type Significance SNP ID Assembly Location
1 NME8 NM_016616.4(NME8): c.1277T> A (p.Leu426Ter) single nucleotide variant Pathogenic rs121918300 GRCh37 Chromosome 7, 37927908: 37927908
2 NME8 NM_016616.4(NME8): c.1277T> A (p.Leu426Ter) single nucleotide variant Pathogenic rs121918300 GRCh38 Chromosome 7, 37888306: 37888306
3 NME8 NM_016616.4(NME8): c.271-27C> T single nucleotide variant Conflicting interpretations of pathogenicity rs117149381 GRCh37 Chromosome 7, 37901603: 37901603
4 NME8 NM_016616.4(NME8): c.271-27C> T single nucleotide variant Conflicting interpretations of pathogenicity rs117149381 GRCh38 Chromosome 7, 37862001: 37862001
5 NME8 NM_016616.4(NME8): c.1013T> C (p.Ile338Thr) single nucleotide variant Benign rs62001870 GRCh37 Chromosome 7, 37923923: 37923923
6 NME8 NM_016616.4(NME8): c.1013T> C (p.Ile338Thr) single nucleotide variant Benign rs62001870 GRCh38 Chromosome 7, 37884321: 37884321
7 NME8 NM_016616.4(NME8): c.1405A> C (p.Ile469Leu) single nucleotide variant Benign/Likely benign rs147791304 GRCh37 Chromosome 7, 37934073: 37934073
8 NME8 NM_016616.4(NME8): c.1405A> C (p.Ile469Leu) single nucleotide variant Benign/Likely benign rs147791304 GRCh38 Chromosome 7, 37894471: 37894471
9 NME8 NM_016616.4(NME8): c.1729G> A (p.Val577Ile) single nucleotide variant Uncertain significance rs770045061 GRCh37 Chromosome 7, 37936656: 37936656
10 NME8 NM_016616.4(NME8): c.1729G> A (p.Val577Ile) single nucleotide variant Uncertain significance rs770045061 GRCh38 Chromosome 7, 37897054: 37897054
11 NME8 NM_016616.4(NME8): c.271-3T> C single nucleotide variant Benign/Likely benign rs191137504 GRCh37 Chromosome 7, 37901627: 37901627
12 NME8 NM_016616.4(NME8): c.271-3T> C single nucleotide variant Benign/Likely benign rs191137504 GRCh38 Chromosome 7, 37862025: 37862025
13 NME8 NM_016616.4(NME8): c.1478_1479delTAinsCT (p.Ile493Thr) indel Benign rs386712272 GRCh38 Chromosome 7, 37894544: 37894545
14 NME8 NM_016616.4(NME8): c.1478_1479delTAinsCT (p.Ile493Thr) indel Benign rs386712272 GRCh37 Chromosome 7, 37934146: 37934147
15 NME8 NM_016616.4(NME8): c.1007G> A (p.Arg336His) single nucleotide variant Benign rs62001869 GRCh38 Chromosome 7, 37884315: 37884315
16 NME8 NM_016616.4(NME8): c.1007G> A (p.Arg336His) single nucleotide variant Benign rs62001869 GRCh37 Chromosome 7, 37923917: 37923917
17 NME8 NM_016616.4(NME8): c.1400-?_*15+?dup duplication Uncertain significance
18 NME8 NM_016616.4(NME8): c.57G> A (p.Leu19=) single nucleotide variant Likely benign rs752092011 GRCh37 Chromosome 7, 37890003: 37890003
19 NME8 NM_016616.4(NME8): c.57G> A (p.Leu19=) single nucleotide variant Likely benign rs752092011 GRCh38 Chromosome 7, 37850401: 37850401
20 NME8 NM_016616.4(NME8): c.610A> G (p.Ile204Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146777129 GRCh37 Chromosome 7, 37905208: 37905208
21 NME8 NM_016616.4(NME8): c.610A> G (p.Ile204Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146777129 GRCh38 Chromosome 7, 37865606: 37865606
22 NME8 NM_016616.4(NME8): c.739G> A (p.Glu247Lys) single nucleotide variant Benign rs139516225 GRCh37 Chromosome 7, 37907421: 37907421
23 NME8 NM_016616.4(NME8): c.739G> A (p.Glu247Lys) single nucleotide variant Benign rs139516225 GRCh38 Chromosome 7, 37867819: 37867819
24 NME8 NM_016616.4(NME8): c.1077A> G (p.Gln359=) single nucleotide variant Benign/Likely benign rs142516478 GRCh37 Chromosome 7, 37923987: 37923987
25 NME8 NM_016616.4(NME8): c.1077A> G (p.Gln359=) single nucleotide variant Benign/Likely benign rs142516478 GRCh38 Chromosome 7, 37884385: 37884385
26 NME8 NM_016616.4(NME8): c.1710C> T (p.Asn570=) single nucleotide variant Likely benign rs190521566 GRCh37 Chromosome 7, 37936637: 37936637
27 NME8 NM_016616.4(NME8): c.1710C> T (p.Asn570=) single nucleotide variant Likely benign rs190521566 GRCh38 Chromosome 7, 37897035: 37897035
28 NME8 NM_016616.4(NME8): c.82G> T (p.Gly28Cys) single nucleotide variant Uncertain significance rs780172047 GRCh38 Chromosome 7, 37850426: 37850426
29 NME8 NM_016616.4(NME8): c.82G> T (p.Gly28Cys) single nucleotide variant Uncertain significance rs780172047 GRCh37 Chromosome 7, 37890028: 37890028
30 NME8 NM_016616.4(NME8): c.1684A> G (p.Lys562Glu) single nucleotide variant Uncertain significance rs370146151 GRCh38 Chromosome 7, 37897009: 37897009
31 NME8 NM_016616.4(NME8): c.1684A> G (p.Lys562Glu) single nucleotide variant Uncertain significance rs370146151 GRCh37 Chromosome 7, 37936611: 37936611
32 NME8 NM_016616.4(NME8): c.226C> A (p.Gln76Lys) single nucleotide variant Likely benign rs142570057 GRCh37 Chromosome 7, 37896903: 37896903
33 NME8 NM_016616.4(NME8): c.226C> A (p.Gln76Lys) single nucleotide variant Likely benign rs142570057 GRCh38 Chromosome 7, 37857301: 37857301
34 NME8 NM_016616.4(NME8): c.994+6G> C single nucleotide variant Uncertain significance rs1060502528 GRCh37 Chromosome 7, 37916615: 37916615
35 NME8 NM_016616.4(NME8): c.994+6G> C single nucleotide variant Uncertain significance rs1060502528 GRCh38 Chromosome 7, 37877013: 37877013
36 NME8 NM_016616.4(NME8): c.401C> T (p.Pro134Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs369201077 GRCh38 Chromosome 7, 37863409: 37863409
37 NME8 NM_016616.4(NME8): c.401C> T (p.Pro134Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs369201077 GRCh37 Chromosome 7, 37903011: 37903011
38 NME8 NM_016616.4(NME8): c.1467T> C (p.Thr489=) single nucleotide variant Likely benign rs141799366 GRCh37 Chromosome 7, 37934135: 37934135
39 NME8 NM_016616.4(NME8): c.1467T> C (p.Thr489=) single nucleotide variant Likely benign rs141799366 GRCh38 Chromosome 7, 37894533: 37894533
40 NME8 NM_016616.4(NME8): c.126C> T (p.Cys42=) single nucleotide variant Benign rs138311368 GRCh37 Chromosome 7, 37890265: 37890265
41 NME8 NM_016616.4(NME8): c.126C> T (p.Cys42=) single nucleotide variant Benign rs138311368 GRCh38 Chromosome 7, 37850663: 37850663
42 NME8 NM_016616.4(NME8): c.454C> T (p.Gln152Ter) single nucleotide variant Uncertain significance rs199901385 GRCh37 Chromosome 7, 37903064: 37903064
43 NME8 NM_016616.4(NME8): c.454C> T (p.Gln152Ter) single nucleotide variant Uncertain significance rs199901385 GRCh38 Chromosome 7, 37863462: 37863462
44 NME8 NM_016616.4(NME8): c.749A> G (p.Glu250Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 37907431: 37907431
45 NME8 NM_016616.4(NME8): c.749A> G (p.Glu250Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 37867829: 37867829
46 NME8 NM_016616.4(NME8): c.1648G> T (p.Asp550Tyr) single nucleotide variant Uncertain significance rs772853800 GRCh37 Chromosome 7, 37936575: 37936575
47 NME8 NM_016616.4(NME8): c.1648G> T (p.Asp550Tyr) single nucleotide variant Uncertain significance rs772853800 GRCh38 Chromosome 7, 37896973: 37896973
48 NME8 NM_016616.4(NME8): c.77A> G (p.Asn26Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 37890023: 37890023
49 NME8 NM_016616.4(NME8): c.77A> G (p.Asn26Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 37850421: 37850421
50 NME8 NM_016616.4(NME8): c.1630G> A (p.Ala544Thr) single nucleotide variant Likely benign rs140494494 GRCh37 Chromosome 7, 37936557: 37936557

Expression for Ciliary Dyskinesia, Primary, 6

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Pathways for Ciliary Dyskinesia, Primary, 6

GO Terms for Ciliary Dyskinesia, Primary, 6

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