CILD45
MCID: CLR145
MIFTS: 20

Ciliary Dyskinesia, Primary, 45 (CILD45)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 45

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 45:

Name: Ciliary Dyskinesia, Primary, 45 56 73 6
Cild45 56 12 73
Ciliary Dyskinesia, Primary, 45, Without Situs Inversus 56 73
Primary Ciliary Dyskinesia 45 Without Situs Inversus 12
Primary Ciliary Dyskinesia 45 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
four unrelated patients have been reported (last curated march 2020)
no situs abnormalities


Classifications:



External Ids:

Disease Ontology 12 DOID:0111857
OMIM 56 618801
OMIM Phenotypic Series 56 PS244400
MeSH 43 D002925
MedGen 41 CN263351
UMLS 71 CN263351

Summaries for Ciliary Dyskinesia, Primary, 45

OMIM : 56 Primary ciliary dyskinesia-45 (CILD45) 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 may result in bronchiectasis. Nasal nitric oxide may be decreased, but patients do not have situs abnormalities. Male patients have infertility due to immotile sperm (summary by Thomas et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (618801)

MalaCards based summary : Ciliary Dyskinesia, Primary, 45, is also known as cild45. An important gene associated with Ciliary Dyskinesia, Primary, 45 is TTC12 (Tetratricopeptide Repeat Domain 12).

Disease Ontology : 12 A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has material basis in homozygous or compound heterozygous mutation in TTC12 on chromosome 11q23.2.

UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 45: 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. CILD45 is an autosomal recessive form characterized by onset of symptoms in infancy or early childhood. Male patients have infertility due to immotile sperm.

Related Diseases for Ciliary Dyskinesia, Primary, 45

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 45

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
sinusitis, chronic
recurrent respiratory infections due to defective mucociliary clearance

Respiratory Lung:
bronchiectasis (in some patients)

Laboratory Abnormalities:
ciliary beating defects
increased immotile cilia
airway epithelial cells lack inner dynein arms
sperm flagella lack both inner and outer dynein arms
nasal nitric oxide may be decreased

Genitourinary Internal Genitalia Male:
infertility due to immotile sperm

Head And Neck Nose:
rhinitis, chronic

Clinical features from OMIM:

618801

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 45

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 45

Genetic Tests for Ciliary Dyskinesia, Primary, 45

Anatomical Context for Ciliary Dyskinesia, Primary, 45

Publications for Ciliary Dyskinesia, Primary, 45

Articles related to Ciliary Dyskinesia, Primary, 45:

# Title Authors PMID Year
1
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella. 56
31978331 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
Evolutionary changes in the genetic code. 6
1978331 1990

Variations for Ciliary Dyskinesia, Primary, 45

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 45:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTC12 NM_017868.4(TTC12):c.1614+3A>TSNV Pathogenic 816690 11:113230733-113230733 11:113360011-113360011
2 TTC12 NM_017868.4(TTC12):c.1678C>T (p.Arg560Ter)SNV Pathogenic 816691 11:113233186-113233186 11:113362464-113362464
3 TTC12 NM_017868.4(TTC12):c.607del (p.Glu202_Ile203insTer)deletion Pathogenic 816692 11:113209524-113209524 11:113338802-113338802
4 TTC12 NM_017868.4(TTC12):c.1700T>G (p.Met567Arg)SNV Pathogenic 816693 11:113233208-113233208 11:113362486-113362486

Expression for Ciliary Dyskinesia, Primary, 45

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 45.

Pathways for Ciliary Dyskinesia, Primary, 45

GO Terms for Ciliary Dyskinesia, Primary, 45

Sources for Ciliary Dyskinesia, Primary, 45

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