CILD29
MCID: CLR116
MIFTS: 29

Ciliary Dyskinesia, Primary, 29 (CILD29)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 29

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 29:

Name: Ciliary Dyskinesia, Primary, 29 56 73 29 6 71
Cild29 56 12 73
Primary Ciliary Dyskinesia 29 12 15
Ciliary Dyskinesia, Primary, 29, Without Situs Inversus 56
Primary Ciliary Dyskinesia 29 Without Situs Inversus 12
Primary Ciliary Dyskinesia Without Situs Inversus 73
Dyskinesia, Ciliary, Primary, Type 29 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early childhood


HPO:

31
ciliary dyskinesia, primary, 29:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0110600
OMIM 56 615872
OMIM Phenotypic Series 56 PS244400
MeSH 43 D007619
ICD10 32 Q34.8
UMLS 71 C4014534

Summaries for Ciliary Dyskinesia, Primary, 29

UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 29: 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. CILD29 patients do not exhibit situs inversus, a congenital abnormality in which visceral organs are opposite to their normal positions (situs solitus) due to lateral transposition.

MalaCards based summary : Ciliary Dyskinesia, Primary, 29, also known as cild29, is related to primary ciliary dyskinesia and situs inversus. An important gene associated with Ciliary Dyskinesia, Primary, 29 is CCNO (Cyclin O). Affiliated tissues include lung, and related phenotypes are infertility and recurrent respiratory infections

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has material basis in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15.

OMIM : 56 Primary ciliary dyskinesia-29 is an autosomal recessive disorder characterized by early childhood onset of recurrent respiratory infections due to defective mucociliary clearance. Patients do not have situs inversus (summary by Wallmeier et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. (615872)

Related Diseases for Ciliary Dyskinesia, Primary, 29

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, Due to Transposition of Ciliary Microtubules

Diseases related to Ciliary Dyskinesia, Primary, 29 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 primary ciliary dyskinesia 29.1 MCIDAS CCNO
2 situs inversus 10.3
3 ciliary dyskinesia, primary, 1 9.4 MCIDAS CCNO
4 kartagener syndrome 9.3 MCIDAS CCNO

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 29

Human phenotypes related to Ciliary Dyskinesia, Primary, 29:

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 occasional (7.5%) HP:0000789
2 recurrent respiratory infections 31 HP:0002205
3 atelectasis 31 HP:0100750
4 bronchiectasis 31 HP:0002110
5 ciliary dyskinesia 31 HP:0012265

Symptoms via clinical synopsis from OMIM:

56
Respiratory Lung:
atelectasis
bronchiectasis
deterioration of lung function

Genitourinary Internal Genitalia Female:
infertility (in some patients)

Abdomen:
no situs inversus

Respiratory:
respiratory infections, recurrent
decreased numbers of motile cilia in respiratory epithelial cells

Laboratory Abnormalities:
decreased nasal nitric oxide

Clinical features from OMIM:

615872

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 29

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 29

Genetic Tests for Ciliary Dyskinesia, Primary, 29

Genetic tests related to Ciliary Dyskinesia, Primary, 29:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 29 29 CCNO

Anatomical Context for Ciliary Dyskinesia, Primary, 29

MalaCards organs/tissues related to Ciliary Dyskinesia, Primary, 29:

40
Lung

Publications for Ciliary Dyskinesia, Primary, 29

Articles related to Ciliary Dyskinesia, Primary, 29:

# Title Authors PMID Year
1
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 56 6
24824133 2015
2
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 56 6
24747639 2014
3
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
4
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
5
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
6
Primary Ciliary Dyskinesia 6
20301301 2007
7
[To the diagnostics of primary ciliary dyskinesia without situs inversus by the example of a clinical observation]. 61
15759494 2005

Variations for Ciliary Dyskinesia, Primary, 29

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 29:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCNO NM_021147.5(CCNO):c.248_252dup (p.Gly85fs)duplication Pathogenic 139599 rs587777498 5:54529099-54529100 5:55233271-55233272
2 CCNO NM_021147.5(CCNO):c.253_257GGCCC[3] (p.Gln88fs)short repeat Pathogenic 139600 rs587777499 5:54529089-54529090 5:55233261-55233262
3 CCNO NM_021147.5(CCNO):c.926del (p.Pro309fs)deletion Pathogenic 139601 rs587777500 5:54527330-54527330 5:55231502-55231502
4 CCNO NM_021147.5(CCNO):c.961C>T (p.Gln321Ter)SNV Pathogenic 139602 rs587777501 5:54527295-54527295 5:55231467-55231467
5 CCNO NM_021147.5(CCNO):c.263_267dup (p.Val90fs)duplication Pathogenic 139603 rs587777502 5:54529084-54529085 5:55233256-55233257
6 CCNO NM_021147.5(CCNO):c.479_480CT[1] (p.Leu161fs)short repeat Pathogenic 139611 rs587777503 5:54528274-54528275 5:55232446-55232447
7 CCNO NM_021147.5(CCNO):c.425del (p.Pro142fs)deletion Likely pathogenic 800814 5:54528331-54528331 5:55232503-55232503
8 CCNO NM_021147.5(CCNO):c.134C>A (p.Pro45His)SNV Conflicting interpretations of pathogenicity 416791 rs139606873 5:54529218-54529218 5:55233390-55233390

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 29:

73
# Symbol AA change Variation ID SNP ID
1 CCNO p.His239Arg VAR_071197 rs797045150
2 CCNO p.Leu213Pro VAR_077581 rs775051461

Expression for Ciliary Dyskinesia, Primary, 29

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 29.

Pathways for Ciliary Dyskinesia, Primary, 29

GO Terms for Ciliary Dyskinesia, Primary, 29

Biological processes related to Ciliary Dyskinesia, Primary, 29 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.26 MCIDAS CCNO
2 cilium assembly GO:0060271 9.16 MCIDAS CCNO
3 cell projection organization GO:0030030 8.96 MCIDAS CCNO
4 multi-ciliated epithelial cell differentiation GO:1903251 8.62 MCIDAS CCNO

Sources for Ciliary Dyskinesia, Primary, 29

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
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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