CILD44
MCID: CLR144
MIFTS: 22

Ciliary Dyskinesia, Primary, 44 (CILD44)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 44

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 44:

Name: Ciliary Dyskinesia, Primary, 44 56 73 6
Cild44 56 12 73
Ciliary Dyskinesia, Primary, 44, Without Situs Inversus 56
Ciliary Dyskinesia, Primary, 44 Without Situs Inversus 73
Primary Ciliary Dyskinesia 44 Without Situs Inversus 12
Primary Ciliary Dyskinesia 44 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
no heterotaxy


HPO:

31
ciliary dyskinesia, primary, 44:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111851
OMIM 56 618781
OMIM Phenotypic Series 56 PS244400
MeSH 43 D002925
MedGen 41 CN263303
UMLS 71 CN263303

Summaries for Ciliary Dyskinesia, Primary, 44

OMIM : 56 Primary ciliary dyskinesia-44 (CILD44) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder results in bronchiectasis. Although respiratory epithelial cell motile cilia are shorter than normal and overall ciliary motion is decreased, nasal nitric oxide, radial ciliary structure, and ciliary beat frequency are normal. In addition, patients do not have situs inversus (summary by Chivukula et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (618781)

MalaCards based summary : Ciliary Dyskinesia, Primary, 44, is also known as cild44. An important gene associated with Ciliary Dyskinesia, Primary, 44 is NEK10 (NIMA Related Kinase 10). Affiliated tissues include colon, liver and lung, and related phenotypes are neonatal respiratory distress and otitis media

Disease Ontology : 12 A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has material basis in homozygous or compound heterozygous mutation in NEK10 on chromosome 3p24.1.

UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 44: 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. CILD44 inheritance is autosomal dominant.

Related Diseases for Ciliary Dyskinesia, Primary, 44

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 44

Human phenotypes related to Ciliary Dyskinesia, Primary, 44:

31
# Description HPO Frequency HPO Source Accession
1 neonatal respiratory distress 31 very rare (1%) HP:0002643
2 otitis media 31 very rare (1%) HP:0000388
3 bronchiectasis 31 very rare (1%) HP:0002110
4 recurrent sinusitis 31 very rare (1%) HP:0011108

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
respiratory insufficiency
recurrent respiratory infections due to defective mucociliary clearance

Head And Neck Nose:
sinusitis, recurrent

Laboratory Abnormalities:
normal nasal nitric oxide
short cilia
normal radial ciliary ultrastructure
normal ciliary beat frequency
reduction in overall ciliary movement

Respiratory Lung:
bronchiectasis

Head And Neck Ears:
otitis media, recurrent

Clinical features from OMIM:

618781

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 44

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 44

Genetic Tests for Ciliary Dyskinesia, Primary, 44

Anatomical Context for Ciliary Dyskinesia, Primary, 44

MalaCards organs/tissues related to Ciliary Dyskinesia, Primary, 44:

40
Colon, Liver, Lung

Publications for Ciliary Dyskinesia, Primary, 44

Articles related to Ciliary Dyskinesia, Primary, 44:

# Title Authors PMID Year
1
A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. 56
31959991 2020
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
Primary Ciliary Dyskinesia 6
20301301 2007
6
Differential activation of ras genes by point mutation in human colon cancer with metastases to either lung or liver. 6
1959991 1991

Variations for Ciliary Dyskinesia, Primary, 44

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 44:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NEK10 NM_152534.4(NEK10):c.1230+5G>CSNV Pathogenic 813278 3:27338665-27338665 3:27297174-27297174
2 NEK10 NM_152534.4(NEK10):c.1869dup (p.His624fs)duplication Pathogenic 813279 3:27326372-27326373 3:27284881-27284882
3 NEK10 NM_152534.4(NEK10):c.2243C>T (p.Pro748Leu)SNV Pathogenic 813280 3:27243049-27243049 3:27201558-27201558
4 NEK10 NM_001031741.3(NEK10):c.253C>T (p.Arg85Cys)SNV Pathogenic 813281 3:27233708-27233708 3:27192217-27192217

Expression for Ciliary Dyskinesia, Primary, 44

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 44.

Pathways for Ciliary Dyskinesia, Primary, 44

GO Terms for Ciliary Dyskinesia, Primary, 44

Sources for Ciliary Dyskinesia, Primary, 44

3 CDC
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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