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 58 76 30 13 6 74
Cild6 58 12 76
Dyskinesia, Ciliary, Primary, 6 41
Primary Ciliary Dyskinesia 6 12
Immotile Cilia Syndrome 6 76
Ics6 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity, see cild1


HPO:

33
ciliary dyskinesia, primary, 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110606
OMIM 58 610852
MeSH 45 D007619
ICD10 34 Q34.8
MedGen 43 C1970506
UMLS 74 C1970506

Summaries for Ciliary Dyskinesia, Primary, 6

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Ciliary Dyskinesia, Primary, 6:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 33 HP:0002205
2 sinusitis 33 HP:0000246
3 ciliary dyskinesia 33 HP:0012265
4 recurrent sinusitis 33 HP:0011108
5 abnormal ciliary motility 33 HP:0012262
6 absent/shortened outer dynein arms 33 HP:0200109

Symptoms via clinical synopsis from OMIM:

58
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

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 30 NME8

Anatomical Context for Ciliary Dyskinesia, Primary, 6

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

42
Liver, Heart

Publications for Ciliary Dyskinesia, Primary, 6

Articles related to Ciliary Dyskinesia, Primary, 6:

# Title Authors Year
1
A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. ( 17360648 )
2007

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.1405A> C (p.Ile469Leu) single nucleotide variant Benign/Likely benign rs147791304 GRCh37 Chromosome 7, 37934073: 37934073
6 NME8 NM_016616.4(NME8): c.1405A> C (p.Ile469Leu) single nucleotide variant Benign/Likely benign rs147791304 GRCh38 Chromosome 7, 37894471: 37894471
7 NME8 NM_016616.4(NME8): c.271-3T> C single nucleotide variant Benign/Likely benign rs191137504 GRCh37 Chromosome 7, 37901627: 37901627
8 NME8 NM_016616.4(NME8): c.271-3T> C single nucleotide variant Benign/Likely benign rs191137504 GRCh38 Chromosome 7, 37862025: 37862025
9 NME8 NM_016616.4(NME8): c.1007G> A (p.Arg336His) single nucleotide variant Benign rs62001869 GRCh38 Chromosome 7, 37884315: 37884315
10 NME8 NM_016616.4(NME8): c.1007G> A (p.Arg336His) single nucleotide variant Benign rs62001869 GRCh37 Chromosome 7, 37923917: 37923917
11 NME8 NM_016616.4(NME8): c.1400-?_*15+?dup duplication Uncertain significance
12 NME8 NM_016616.4(NME8): c.57G> A (p.Leu19=) single nucleotide variant Likely benign rs752092011 GRCh37 Chromosome 7, 37890003: 37890003
13 NME8 NM_016616.4(NME8): c.57G> A (p.Leu19=) single nucleotide variant Likely benign rs752092011 GRCh38 Chromosome 7, 37850401: 37850401
14 NME8 NM_016616.4(NME8): c.610A> G (p.Ile204Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146777129 GRCh37 Chromosome 7, 37905208: 37905208
15 NME8 NM_016616.4(NME8): c.610A> G (p.Ile204Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146777129 GRCh38 Chromosome 7, 37865606: 37865606
16 NME8 NM_016616.4(NME8): c.82G> T (p.Gly28Cys) single nucleotide variant Uncertain significance rs780172047 GRCh38 Chromosome 7, 37850426: 37850426
17 NME8 NM_016616.4(NME8): c.82G> T (p.Gly28Cys) single nucleotide variant Uncertain significance rs780172047 GRCh37 Chromosome 7, 37890028: 37890028
18 NME8 NM_016616.4(NME8): c.1684A> G (p.Lys562Glu) single nucleotide variant Uncertain significance rs370146151 GRCh38 Chromosome 7, 37897009: 37897009
19 NME8 NM_016616.4(NME8): c.1684A> G (p.Lys562Glu) single nucleotide variant Uncertain significance rs370146151 GRCh37 Chromosome 7, 37936611: 37936611
20 NME8 NM_016616.4(NME8): c.226C> A (p.Gln76Lys) single nucleotide variant Likely benign rs142570057 GRCh37 Chromosome 7, 37896903: 37896903
21 NME8 NM_016616.4(NME8): c.226C> A (p.Gln76Lys) single nucleotide variant Likely benign rs142570057 GRCh38 Chromosome 7, 37857301: 37857301
22 NME8 NM_016616.4(NME8): c.994+6G> C single nucleotide variant Uncertain significance rs1060502528 GRCh37 Chromosome 7, 37916615: 37916615
23 NME8 NM_016616.4(NME8): c.994+6G> C single nucleotide variant Uncertain significance rs1060502528 GRCh38 Chromosome 7, 37877013: 37877013
24 NME8 NM_016616.4(NME8): c.126C> T (p.Cys42=) single nucleotide variant Benign rs138311368 GRCh37 Chromosome 7, 37890265: 37890265
25 NME8 NM_016616.4(NME8): c.126C> T (p.Cys42=) single nucleotide variant Benign rs138311368 GRCh38 Chromosome 7, 37850663: 37850663
26 NME8 NM_016616.4(NME8): c.454C> T (p.Gln152Ter) single nucleotide variant Uncertain significance rs199901385 GRCh37 Chromosome 7, 37903064: 37903064
27 NME8 NM_016616.4(NME8): c.454C> T (p.Gln152Ter) single nucleotide variant Uncertain significance rs199901385 GRCh38 Chromosome 7, 37863462: 37863462
28 NME8 NM_016616.4(NME8): c.749A> G (p.Glu250Gly) single nucleotide variant Uncertain significance rs1554363589 GRCh37 Chromosome 7, 37907431: 37907431
29 NME8 NM_016616.4(NME8): c.749A> G (p.Glu250Gly) single nucleotide variant Uncertain significance rs1554363589 GRCh38 Chromosome 7, 37867829: 37867829
30 NME8 NM_016616.4(NME8): c.1648G> T (p.Asp550Tyr) single nucleotide variant Uncertain significance rs772853800 GRCh38 Chromosome 7, 37896973: 37896973
31 NME8 NM_016616.4(NME8): c.1648G> T (p.Asp550Tyr) single nucleotide variant Uncertain significance rs772853800 GRCh37 Chromosome 7, 37936575: 37936575
32 NME8 NM_016616.4(NME8): c.77A> G (p.Asn26Ser) single nucleotide variant Uncertain significance rs1554360744 GRCh37 Chromosome 7, 37890023: 37890023
33 NME8 NM_016616.4(NME8): c.77A> G (p.Asn26Ser) single nucleotide variant Uncertain significance rs1554360744 GRCh38 Chromosome 7, 37850421: 37850421
34 NME8 NM_016616.4(NME8): c.1630G> A (p.Ala544Thr) single nucleotide variant Likely benign rs140494494 GRCh37 Chromosome 7, 37936557: 37936557
35 NME8 NM_016616.4(NME8): c.1630G> A (p.Ala544Thr) single nucleotide variant Likely benign rs140494494 GRCh38 Chromosome 7, 37896955: 37896955
36 NME8 NM_016616.4(NME8): c.198C> T (p.Val66=) single nucleotide variant Uncertain significance rs748684004 GRCh38 Chromosome 7, 37850735: 37850735
37 NME8 NM_016616.4(NME8): c.198C> T (p.Val66=) single nucleotide variant Uncertain significance rs748684004 GRCh37 Chromosome 7, 37890337: 37890337
38 NME8 NM_016616.4(NME8): c.83_85delGCTinsACA (p.Gly28_Leu29delinsAspIle) indel Uncertain significance rs1554360745 GRCh37 Chromosome 7, 37890029: 37890031
39 NME8 NM_016616.4(NME8): c.83_85delGCTinsACA (p.Gly28_Leu29delinsAspIle) indel Uncertain significance rs1554360745 GRCh38 Chromosome 7, 37850427: 37850429
40 NME8 NM_016616.4(NME8): c.1269G> A (p.Met423Ile) single nucleotide variant Uncertain significance rs761626831 GRCh38 Chromosome 7, 37888298: 37888298
41 NME8 NM_016616.4(NME8): c.1269G> A (p.Met423Ile) single nucleotide variant Uncertain significance rs761626831 GRCh37 Chromosome 7, 37927900: 37927900
42 NME8 NM_016616.4(NME8): c.1657C> T (p.Arg553Ter) single nucleotide variant Uncertain significance rs145721687 GRCh38 Chromosome 7, 37896982: 37896982
43 NME8 NM_016616.4(NME8): c.1657C> T (p.Arg553Ter) single nucleotide variant Uncertain significance rs145721687 GRCh37 Chromosome 7, 37936584: 37936584
44 NME8 NM_016616.4(NME8): c.1666T> A (p.Phe556Ile) single nucleotide variant Uncertain significance rs757432890 GRCh37 Chromosome 7, 37936593: 37936593
45 NME8 NM_016616.4(NME8): c.1666T> A (p.Phe556Ile) single nucleotide variant Uncertain significance rs757432890 GRCh38 Chromosome 7, 37896991: 37896991
46 NME8 NM_016616.4(NME8): c.88A> G (p.Thr30Ala) single nucleotide variant Uncertain significance rs199920317 GRCh37 Chromosome 7, 37890034: 37890034
47 NME8 NM_016616.4(NME8): c.88A> G (p.Thr30Ala) single nucleotide variant Uncertain significance rs199920317 GRCh38 Chromosome 7, 37850432: 37850432
48 NME8 NM_016616.4(NME8): c.33+8T> G single nucleotide variant Likely benign rs1554360728 GRCh38 Chromosome 7, 37850307: 37850307
49 NME8 NM_016616.4(NME8): c.33+8T> G single nucleotide variant Likely benign rs1554360728 GRCh37 Chromosome 7, 37889909: 37889909
50 NME8 NM_016616.4(NME8): c.343G> A (p.Asp115Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 37901702: 37901702

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

Sources for Ciliary Dyskinesia, Primary, 6

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