CILD43
MCID: CLR143
MIFTS: 22

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 57 73 29 6
Cild43 57 12 73
Ciliary Dyskinesia, Primary, 43, with or Without Situs Inversus 57
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®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
de novo mutation
onset soon after birth


HPO:

31
ciliary dyskinesia, primary, 43:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111856
OMIM® 57 618699
OMIM Phenotypic Series 57 PS244400
MeSH 44 D002925

Summaries for Ciliary Dyskinesia, Primary, 43

OMIM® : 57 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) (Updated 05-Mar-2021)

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). Related phenotypes are recurrent upper respiratory tract infections and neonatal respiratory distress

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

Human phenotypes related to Ciliary Dyskinesia, Primary, 43:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 recurrent upper respiratory tract infections 31 very rare (1%) HP:0002788
2 neonatal respiratory distress 31 very rare (1%) HP:0002643
3 abdominal situs inversus 31 very rare (1%) HP:0003363
4 noncommunicating hydrocephalus 31 very rare (1%) HP:0010953
5 bronchiectasis 31 very rare (1%) HP:0002110
6 chronic rhinitis 31 very rare (1%) HP:0002257
7 recurrent lower respiratory tract infections 31 very rare (1%) HP:0002783
8 chronic sinusitis 31 very rare (1%) HP:0011109
9 productive cough 31 very rare (1%) HP:0031245

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

Genetic tests related to Ciliary Dyskinesia, Primary, 43:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 43 29 FOXJ1

Anatomical Context for Ciliary Dyskinesia, Primary, 43

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. 57 6
31630787 2019
2
The forkhead protein Foxj1 specifies node-like cilia in Xenopus and zebrafish embryos. 57
19011629 2008
3
Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry. 57
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 rs1598372830 17:74133799-74133799 17:76137718-76137718
2 FOXJ1 NM_001454.4(FOXJ1):c.868_871dup (p.Thr291fs) Duplication Pathogenic 800279 rs1598372841 17:74133828-74133829 17:76137747-76137748
3 FOXJ1 NM_001454.4(FOXJ1):c.826C>T (p.Gln276Ter) SNV Pathogenic 800280 rs1598372878 17:74133874-74133874 17:76137793-76137793
4 FOXJ1 NM_001454.4(FOXJ1):c.967del (p.Glu323fs) Deletion Pathogenic 800281 rs1598372791 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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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