CILD39
MCID: CLR139
MIFTS: 21

Ciliary Dyskinesia, Primary, 39 (CILD39)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 39

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 39:

Name: Ciliary Dyskinesia, Primary, 39 58 76 6
Ciliary Dyskinesia, Primary, 39, with or Without Situs Inversus 58 76
Cild39 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype and severity
onset soon after birth
two affected fetuses in 1 family had lethal congenital heart disease
three unrelated families have been reported (last curated december 2018)


Classifications:



External Ids:

OMIM 58 618254
MeSH 45 D007619
MedGen 43 CN257535

Summaries for Ciliary Dyskinesia, Primary, 39

UniProtKB/Swiss-Prot : 76 Ciliary dyskinesia, primary, 39: 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. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD39 inheritance is autosomal recessive.

MalaCards based summary : Ciliary Dyskinesia, Primary, 39, is also known as ciliary dyskinesia, primary, 39, with or without situs inversus. An important gene associated with Ciliary Dyskinesia, Primary, 39 is LRRC56 (Leucine Rich Repeat Containing 56). Affiliated tissues include lung and heart, and related phenotypes are recurrent respiratory infections and dextrocardia

OMIM : 58 Primary ciliary dyskinesia-39 (CILD39) is an autosomal recessive disorder characterized by chronic sinopulmonary infections beginning soon after birth and laterality defects in about 50% of patients. Although patient nasal ciliary samples have normal structure, detailed studies may show ciliary kinetic defects in some patients (summary by Bonnefoy et al., 2018). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. (618254)

Related Diseases for Ciliary Dyskinesia, Primary, 39

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 39

Human phenotypes related to Ciliary Dyskinesia, Primary, 39:

33
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 33 HP:0002205
2 dextrocardia 33 HP:0001651
3 bronchiectasis 33 HP:0002110
4 double outlet right ventricle 33 HP:0001719
5 chronic lung disease 33 HP:0006528

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
dextrocardia
double outlet right ventricle
complex congenital heart malformations (in some patients)
dominant right ventricle
hypoplastic or absent left ventricle
more
Head And Neck Nose:
rhinorrhea

Head And Neck Ears:
ear infections, recurrent

Respiratory Lung:
bronchiectasis
chronic lung disease

Respiratory:
respiratory infections, recurrent
chronic cough

Laboratory Abnormalities:
nasal biopsy samples show normal ciliary structure with normal dynein arms
dyskinetic ciliary beat frequency (in some patients)
decreased ciliary beat frequency (in some patients)
normal ciliary beat and frequency (in some patients)

Clinical features from OMIM:

618254

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 39

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 39

Genetic Tests for Ciliary Dyskinesia, Primary, 39

Anatomical Context for Ciliary Dyskinesia, Primary, 39

MalaCards organs/tissues related to Ciliary Dyskinesia, Primary, 39:

42
Lung, Heart

Publications for Ciliary Dyskinesia, Primary, 39

Articles related to Ciliary Dyskinesia, Primary, 39:

# Title Authors Year
1
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. ( 30388400 )
2018

Variations for Ciliary Dyskinesia, Primary, 39

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 39:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LRRC56 NM_198075.4(LRRC56): c.423+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 549999: 549999
2 LRRC56 NM_198075.4(LRRC56): c.423+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 549999: 549999
3 LRRC56 NM_198075.4(LRRC56): c.419T> C (p.Leu140Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 549994: 549994
4 LRRC56 NM_198075.4(LRRC56): c.419T> C (p.Leu140Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 549994: 549994
5 LRRC56 NM_198075.4(LRRC56): c.760G> T (p.Glu254Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 551266: 551266
6 LRRC56 NM_198075.4(LRRC56): c.760G> T (p.Glu254Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 551266: 551266
7 LRRC56 NM_198075.4(LRRC56): c.326+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 544781: 544781
8 LRRC56 NM_198075.4(LRRC56): c.326+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 544781: 544781

Expression for Ciliary Dyskinesia, Primary, 39

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 39.

Pathways for Ciliary Dyskinesia, Primary, 39

GO Terms for Ciliary Dyskinesia, Primary, 39

Sources for Ciliary Dyskinesia, Primary, 39

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