CILD42
MCID: CLR142
MIFTS: 22

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 57 72 29 6
Cild42 57 12 72
Ciliary Dyskinesia, Primary, 42, Without Situs Inversus 57 72
Primary Ciliary Dyskinesia 42 Without Situs Inversus 12
Primary Ciliary Dyskinesia 42 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
ciliary dyskinesia, primary, 42:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111855
OMIM® 57 618695
OMIM Phenotypic Series 57 PS244400
MeSH 44 D002925

Summaries for Ciliary Dyskinesia, Primary, 42

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Ciliary Dyskinesia, Primary, 42, is also known as cild42. An important gene associated with Ciliary Dyskinesia, Primary, 42 is MCIDAS (Multiciliate Differentiation And DNA Synthesis Associated Cell Cycle Protein). Related phenotypes are respiratory insufficiency and pneumonia

Disease Ontology : 12 A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has material basis in homozygous or compound heterozygous mutation in MCIDAS on chromosome 5q11.2.

UniProtKB/Swiss-Prot : 72 Ciliary dyskinesia, primary, 42: A form of primary ciliary dyskinesia, 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. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. CILD42 inheritance is autosomal recessive.

Related Diseases for Ciliary Dyskinesia, Primary, 42

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 42

Human phenotypes related to Ciliary Dyskinesia, Primary, 42:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 very rare (1%) HP:0002093
2 pneumonia 31 very rare (1%) HP:0002090
3 bronchiectasis 31 very rare (1%) HP:0002110
4 recurrent sinusitis 31 very rare (1%) HP:0011108
5 decreased nasal nitric oxide 31 very rare (1%) HP:0033036
6 nasal polyposis 31 HP:0100582
7 chronic rhinitis 31 HP:0002257
8 reduced forced vital capacity 31 HP:0032341
9 chronic pulmonary obstruction 31 HP:0006510

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory:
respiratory insufficiency
infections of the upper and lower airways, recurrent
oxygen dependence

Respiratory Lung:
pneumonia
bronchiectasis

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

Respiratory Airways:
chronic obstructive airway disease

Abdomen:
normal situs

Genitourinary Internal Genitalia Female:
infertility

Head And Neck Nose:
rhinitis
nasal polyps
sinusitis, recurrent

Head And Neck Ears:
otitis media, recurrent

Cardiovascular Heart:
normal situs

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

Clinical features from OMIM®:

618695 (Updated 20-May-2021)

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

Genetic tests related to Ciliary Dyskinesia, Primary, 42:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 42 29 MCIDAS

Anatomical Context for Ciliary Dyskinesia, Primary, 42

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. 6 57
30237576 2019
2
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. 57 6
25048963 2014
3
Familial nasal acilia syndrome. 57 6
8813877 1996
4
Aplasia of respiratory tract cilia. 57 6
1523039 1992

Variations for Ciliary Dyskinesia, Primary, 42

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MCIDAS NM_001190787.3(MCIDAS):c.717+2T>G SNV Pathogenic 800285 rs1580402818 GRCh37: 5:54516842-54516842
GRCh38: 5:55221014-55221014
2 MCIDAS NM_001190787.3(MCIDAS):c.441C>A (p.Cys147Ter) SNV Pathogenic 209007 rs777031813 GRCh37: 5:54518169-54518169
GRCh38: 5:55222341-55222341
3 MCIDAS NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His) SNV Pathogenic 209009 rs797045152 GRCh37: 5:54516210-54516210
GRCh38: 5:55220382-55220382
4 MCIDAS NM_001190787.3(MCIDAS):c.1097G>A (p.Gly366Asp) SNV Pathogenic 209008 rs797045151 GRCh37: 5:54516255-54516255
GRCh38: 5:55220427-55220427

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 42:

72
# Symbol AA change Variation ID SNP ID
1 MCIDAS p.Gly366Asp VAR_071800 rs797045151
2 MCIDAS p.Arg381His VAR_071801 rs797045152

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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