CILD39
MCID: CLR139
MIFTS: 22

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 57 72 29 6
Cild39 57 12 72
Ciliary Dyskinesia, Primary, 39, with or Without Situs Inversus 57 72
Primary Ciliary Dyskinesia 39 with or Without Situs Inversus 12
Primary Ciliary Dyskinesia 39 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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)


HPO:

31
ciliary dyskinesia, primary, 39:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111854
OMIM® 57 618254
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619

Summaries for Ciliary Dyskinesia, Primary, 39

UniProtKB/Swiss-Prot : 72 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 cild39. An important gene associated with Ciliary Dyskinesia, Primary, 39 is LRRC56 (Leucine Rich Repeat Containing 56). Affiliated tissues include heart and lung, and related phenotypes are recurrent respiratory infections and cough

Disease Ontology : 12 A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has material basis in homozygous or compound heterozygous mutation in LRRC56 on chromosome 11p15.5.

OMIM® : 57 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) (Updated 20-May-2021)

Related Diseases for Ciliary Dyskinesia, Primary, 39

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 39

Human phenotypes related to Ciliary Dyskinesia, Primary, 39:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 cough 31 HP:0012735
3 dextrocardia 31 HP:0001651
4 bronchiectasis 31 HP:0002110
5 chronic lung disease 31 HP:0006528
6 rhinorrhea 31 HP:0031417
7 double outlet right ventricle 31 HP:0001719

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Genetic tests related to Ciliary Dyskinesia, Primary, 39:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 39 29 LRRC56

Anatomical Context for Ciliary Dyskinesia, Primary, 39

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

40
Heart, Lung

Publications for Ciliary Dyskinesia, Primary, 39

Articles related to Ciliary Dyskinesia, Primary, 39:

# Title Authors PMID Year
1
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. 6 57
30388400 2018

Variations for Ciliary Dyskinesia, Primary, 39

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRRC56 NM_198075.4(LRRC56):c.423+1G>A SNV Pathogenic 599210 rs1564805053 GRCh37: 11:549999-549999
GRCh38: 11:549999-549999
2 LRRC56 NM_198075.4(LRRC56):c.419T>C (p.Leu140Pro) SNV Pathogenic 599211 rs1564805039 GRCh37: 11:549994-549994
GRCh38: 11:549994-549994
3 LRRC56 NM_198075.4(LRRC56):c.760G>T (p.Glu254Ter) SNV Pathogenic 599212 rs372959912 GRCh37: 11:551266-551266
GRCh38: 11:551266-551266
4 LRRC56 NM_198075.4(LRRC56):c.326+1G>A SNV Pathogenic 599213 rs1564800859 GRCh37: 11:544781-544781
GRCh38: 11:544781-544781

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 39:

72
# Symbol AA change Variation ID SNP ID
1 LRRC56 p.Leu140Pro VAR_081775 rs156480503

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

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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