CILD29
MCID: CLR116
MIFTS: 21

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 57 75 29 6 73
Cild29 57 12 75
Ciliary Dyskinesia, Primary, 29, Without Situs Inversus 57
Primary Ciliary Dyskinesia 29 Without Situs Inversus 12
Primary Ciliary Dyskinesia Without Situs Inversus 75
Dyskinesia, Ciliary, Primary, Type 29 40
Primary Ciliary Dyskinesia 29 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early childhood


HPO:

32
ciliary dyskinesia, primary, 29:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615872
Disease Ontology 12 DOID:0110600
ICD10 33 Q34.8
MeSH 44 D007619
UMLS 73 C4014534

Summaries for Ciliary Dyskinesia, Primary, 29

UniProtKB/Swiss-Prot : 75 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, is also known as cild29. An important gene associated with Ciliary Dyskinesia, Primary, 29 is CCNO (Cyclin O). Affiliated tissues include lung, and related phenotypes are recurrent respiratory infections and atelectasis

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 : 57 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

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 29

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ciliary Dyskinesia, Primary, 29:

32
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 atelectasis 32 HP:0100750
3 infertility 32 occasional (7.5%) HP:0000789
4 bronchiectasis 32 HP:0002110
5 ciliary dyskinesia 32 HP:0012265

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:

41
Lung

Publications for Ciliary Dyskinesia, Primary, 29

Variations for Ciliary Dyskinesia, Primary, 29

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

75
# Symbol AA change Variation ID SNP ID
1 CCNO p.His239Arg VAR_071197 rs797045150
2 CCNO p.Leu213Pro VAR_077581 rs775051461

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

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CCNO NM_021147.4(CCNO): c.248_252dupTGCCC (p.Gly85Cysfs) duplication Pathogenic rs587777498 GRCh38 Chromosome 5, 55233272: 55233276
2 CCNO NM_021147.4(CCNO): c.248_252dupTGCCC (p.Gly85Cysfs) duplication Pathogenic rs587777498 GRCh37 Chromosome 5, 54529100: 54529104
3 CCNO NM_021147.4(CCNO): c.258_262dupGGCCC (p.Gln88Argfs) duplication Pathogenic rs587777499 GRCh38 Chromosome 5, 55233262: 55233266
4 CCNO NM_021147.4(CCNO): c.258_262dupGGCCC (p.Gln88Argfs) duplication Pathogenic rs587777499 GRCh37 Chromosome 5, 54529090: 54529094
5 CCNO NM_021147.4(CCNO): c.926delC (p.Pro309Argfs) deletion Pathogenic rs587777500 GRCh38 Chromosome 5, 55231502: 55231502
6 CCNO NM_021147.4(CCNO): c.926delC (p.Pro309Argfs) deletion Pathogenic rs587777500 GRCh37 Chromosome 5, 54527330: 54527330
7 CCNO NM_021147.4(CCNO): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs587777501 GRCh38 Chromosome 5, 55231467: 55231467
8 CCNO NM_021147.4(CCNO): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs587777501 GRCh37 Chromosome 5, 54527295: 54527295
9 CCNO NM_021147.4(CCNO): c.263_267dupAGCCC (p.Val90Serfs) duplication Pathogenic rs587777502 GRCh38 Chromosome 5, 55233257: 55233261
10 CCNO NM_021147.4(CCNO): c.263_267dupAGCCC (p.Val90Serfs) duplication Pathogenic rs587777502 GRCh37 Chromosome 5, 54529085: 54529089
11 CCNO NM_021147.4(CCNO): c.481_482delCT (p.Leu161Glyfs) deletion Pathogenic rs587777503 GRCh38 Chromosome 5, 55232446: 55232447
12 CCNO NM_021147.4(CCNO): c.481_482delCT (p.Leu161Glyfs) deletion Pathogenic rs587777503 GRCh37 Chromosome 5, 54528274: 54528275
13 CCNO NM_021147.4(CCNO): c.134C> A (p.Pro45His) single nucleotide variant Conflicting interpretations of pathogenicity rs139606873 GRCh37 Chromosome 5, 54529218: 54529218
14 CCNO NM_021147.4(CCNO): c.134C> A (p.Pro45His) single nucleotide variant Conflicting interpretations of pathogenicity rs139606873 GRCh38 Chromosome 5, 55233390: 55233390

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

Sources for Ciliary Dyskinesia, Primary, 29

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....