MCID: CLR116
MIFTS: 20

Ciliary Dyskinesia, Primary, 29

Categories: Genetic diseases, Rare 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:
onset in early childhood
progressive disorder


HPO:

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


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 infertility and bronchiectasis

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)

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.

Related Diseases for Ciliary Dyskinesia, Primary, 29

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 29

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
respiratory infections, recurrent
decreased numbers of motile cilia in respiratory epithelial cells

Abdomen:
no situs inversus

Laboratory Abnormalities:
decreased nasal nitric oxide

Respiratory Lung:
bronchiectasis
atelectasis
deterioration of lung function

Genitourinary Internal Genitalia Female:
infertility (in some patients)


Clinical features from OMIM:

615872

Human phenotypes related to Ciliary Dyskinesia, Primary, 29:

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

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 12)
# 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

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
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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