CILD42
MCID: CLR142
MIFTS: 18

Ciliary Dyskinesia, Primary, 42 (CILD42)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 42

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 42:

Name: Ciliary Dyskinesia, Primary, 42 56 6
Ciliary Dyskinesia, Primary, 42, Without Situs Inversus 56
Cild42 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset soon after birth
death from respiratory insufficiency (in some patients)


Classifications:



External Ids:

OMIM 56 618695
OMIM Phenotypic Series 56 PS244400

Summaries for Ciliary Dyskinesia, Primary, 42

OMIM : 56 Primary ciliary dyskinesia-42 (CILD42) is an autosomal recessive disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by Boon et al., 2014). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 (244400). (618695)

MalaCards based summary : Ciliary Dyskinesia, Primary, 42, is also known as ciliary dyskinesia, primary, 42, without situs inversus. An important gene associated with Ciliary Dyskinesia, Primary, 42 is MCIDAS (Multiciliate Differentiation And DNA Synthesis Associated Cell Cycle Protein). Affiliated tissues include lung.

Related Diseases for Ciliary Dyskinesia, Primary, 42

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 42

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
respiratory insufficiency
infections of the upper and lower airways, recurrent
oxygen dependence

Respiratory Lung:
pneumonia
bronchiectasis

Head And Neck Ears:
otitis media, recurrent

Respiratory Airways:
chronic obstructive airway disease

Abdomen:
normal situs

Genitourinary Internal Genitalia Female:
infertility

Head And Neck Nose:
rhinitis
nasal polyps
sinusitis, recurrent

Laboratory Abnormalities:
decreased nasal nitric oxide
defective mucociliary clearance
patient respiratory epithelial cells have reduced or absent motile cilia and basal bodies

Cardiovascular Heart:
normal situs

Neurologic Central Nervous System:
enlarged ventricles, mild, due to arrested hydrocephalus

Clinical features from OMIM:

618695

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 42

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 42

Genetic Tests for Ciliary Dyskinesia, Primary, 42

Anatomical Context for Ciliary Dyskinesia, Primary, 42

MalaCards organs/tissues related to Ciliary Dyskinesia, Primary, 42:

40
Lung

Publications for Ciliary Dyskinesia, Primary, 42

Articles related to Ciliary Dyskinesia, Primary, 42:

# Title Authors PMID Year
1
Autozygome and high throughput confirmation of disease genes candidacy. 56 6
30237576 2019
2
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. 56 6
25048963 2014
3
Familial nasal acilia syndrome. 56 6
8813877 1996
4
Aplasia of respiratory tract cilia. 56 6
1523039 1992
5
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
6
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
7
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
8
Primary Ciliary Dyskinesia 6
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 42

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 42:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MCIDAS NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His)SNV Pathogenic 209009 rs797045152 5:54516210-54516210 5:55220382-55220382
2 MCIDAS NM_001190787.3(MCIDAS):c.1097G>A (p.Gly366Asp)SNV Pathogenic 209008 rs797045151 5:54516255-54516255 5:55220427-55220427
3 MCIDAS NM_001190787.3(MCIDAS):c.441C>A (p.Cys147Ter)SNV Pathogenic 209007 rs777031813 5:54518169-54518169 5:55222341-55222341
4 MCIDAS NM_001190787.3(MCIDAS):c.717+2T>GSNV Pathogenic 800285 5:54516842-54516842 5:55221014-55221014

Expression for Ciliary Dyskinesia, Primary, 42

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 42.

Pathways for Ciliary Dyskinesia, Primary, 42

GO Terms for Ciliary Dyskinesia, Primary, 42

Sources for Ciliary Dyskinesia, Primary, 42

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
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36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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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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