CILD43
MCID: CLR143
MIFTS: 21

Ciliary Dyskinesia, Primary, 43 (CILD43)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 43

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 43:

Name: Ciliary Dyskinesia, Primary, 43 56 73 6
Cild43 56 12 73
Ciliary Dyskinesia, Primary, 43, with or Without Situs Inversus 56
Ciliary Dyskinesia, Primary, 43 with or Without Situs Inversus 73
Primary Ciliary Dyskinesia 43 with or Without Situs Inversus 12
Primary Ciliary Dyskinesia 43 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
de novo mutation
onset soon after birth


Classifications:



External Ids:

Disease Ontology 12 DOID:0111856
OMIM 56 618699
OMIM Phenotypic Series 56 PS244400
MeSH 43 D002925
MedGen 41 CN263052
UMLS 71 CN263052

Summaries for Ciliary Dyskinesia, Primary, 43

OMIM : 56 Primary ciliary dyskinesia-43 (CILD43) is a 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. Patients with this disorder also develop significant obstructive hydrocephalus requiring shunting in infancy, although adult onset of neurologic symptoms may occur. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by Wallmeier et al., 2019). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 (244400). (618699)

MalaCards based summary : Ciliary Dyskinesia, Primary, 43, is also known as cild43. An important gene associated with Ciliary Dyskinesia, Primary, 43 is FOXJ1 (Forkhead Box J1). Affiliated tissues include lung.

Disease Ontology : 12 A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has material basis in heterozygous mutation in FOXJ1 on chromosome 17q25.1.

UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 43: 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. Patients with this disorder also develop significant obstructive hydrocephalus. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. CILD43 inheritance is autosomal dominant.

Related Diseases for Ciliary Dyskinesia, Primary, 43

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 43

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hydrocephalus
enlarged ventricles due to hydrocephalus

Genitourinary Internal Genitalia Male:
infertility

Respiratory Lung:
bronchiectasis

Head And Neck Ears:
otitis media, recurrent

Abdomen:
situs inversus (in about 50% of patients)

Respiratory:
respiratory insufficiency
infections of the upper and lower airways, recurrent
cough, chronic

Genitourinary Internal Genitalia Female:
infertility

Head And Neck Nose:
rhinitis
sinusitis, recurrent

Cardiovascular Heart:
situs inversus (in about 50% of patients)

Laboratory Abnormalities:
defective mucociliary clearance
patient respiratory epithelial cells have reduced or absent motile cilia and basal bodies
normal nasal nitric oxide
abnormal cytoplasmic localization of basal bodies
abnormal ciliary beat pattern with reduced amplitude

Clinical features from OMIM:

618699

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 43

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 43

Genetic Tests for Ciliary Dyskinesia, Primary, 43

Anatomical Context for Ciliary Dyskinesia, Primary, 43

MalaCards organs/tissues related to Ciliary Dyskinesia, Primary, 43:

40
Lung

Publications for Ciliary Dyskinesia, Primary, 43

Articles related to Ciliary Dyskinesia, Primary, 43:

# Title Authors PMID Year
1
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. 56 6
31630787 2019
2
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
3
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
4
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
5
The forkhead protein Foxj1 specifies node-like cilia in Xenopus and zebrafish embryos. 56
19011629 2008
6
Primary Ciliary Dyskinesia 6
20301301 2007
7
Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry. 56
9739041 1998

Variations for Ciliary Dyskinesia, Primary, 43

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 43:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXJ1 NM_001454.4(FOXJ1):c.901G>T (p.Glu301Ter)SNV Pathogenic 800278 17:74133799-74133799 17:76137718-76137718
2 FOXJ1 NM_001454.4(FOXJ1):c.868_871dup (p.Thr291fs)duplication Pathogenic 800279 17:74133828-74133829 17:76137747-76137748
3 FOXJ1 NM_001454.4(FOXJ1):c.826C>T (p.Gln276Ter)SNV Pathogenic 800280 17:74133874-74133874 17:76137793-76137793
4 FOXJ1 NM_001454.4(FOXJ1):c.967del (p.Glu323fs)deletion Pathogenic 800281 17:74133733-74133733 17:76137652-76137652

Expression for Ciliary Dyskinesia, Primary, 43

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 43.

Pathways for Ciliary Dyskinesia, Primary, 43

GO Terms for Ciliary Dyskinesia, Primary, 43

Sources for Ciliary Dyskinesia, Primary, 43

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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30 HMDB
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32 ICD10
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43 MeSH
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48 NCI
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50 NDF-RT
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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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