CILD2
MCID: CLR066
MIFTS: 28

Ciliary Dyskinesia, Primary, 2 (CILD2)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 2

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 2:

Name: Ciliary Dyskinesia, Primary, 2 57 74 29 13 6 72
Cild2 57 12 74
Primary Ciliary Dyskinesia 2 with or Without Situs Inversus 12 74
Ciliary Dyskinesia, Primary, 2, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 2 40
Primary Ciliary Dyskinesia 2 12
Immotile Cilia Syndrome 2 74
Ics2 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
approximately 50% of patients have situs inversus


HPO:

32
ciliary dyskinesia, primary, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110626
ICD10 33 Q34.8
MedGen 42 C1847554
UMLS 72 C1847554

Summaries for Ciliary Dyskinesia, Primary, 2

UniProtKB/Swiss-Prot : 74 Ciliary dyskinesia, primary, 2: 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

MalaCards based summary : Ciliary Dyskinesia, Primary, 2, also known as cild2, is related to kartagener syndrome and wolff-parkinson-white syndrome, and has symptoms including respiratory distress An important gene associated with Ciliary Dyskinesia, Primary, 2 is DNAAF3 (Dynein Axonemal Assembly Factor 3). Related phenotypes are hearing impairment and recurrent respiratory infections

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has material basis in homozygous mutation in the DNAAF3 gene on chromosome 19q13.

More information from OMIM: 606763 PS244400

Related Diseases for Ciliary Dyskinesia, Primary, 2

Diseases in the Primary Ciliary Dyskinesia family:

Ciliary Dyskinesia, Primary, 1 Ciliary Dyskinesia, Primary, 2
Ciliary Dyskinesia, Primary, 3 Ciliary Dyskinesia, Primary, 4
Ciliary Dyskinesia, Primary, 5 Ciliary Dyskinesia, Primary, 6
Ciliary Dyskinesia, Primary, 7 Ciliary Dyskinesia, Primary, 8
Ciliary Dyskinesia, Primary, 9 Ciliary Dyskinesia, Primary, 10
Ciliary Dyskinesia, Primary, 11 Ciliary Dyskinesia, Primary, 12
Ciliary Dyskinesia, Primary, 13 Ciliary Dyskinesia, Primary, 14
Ciliary Dyskinesia, Primary, 15 Ciliary Dyskinesia, Primary, 16
Ciliary Dyskinesia, Primary, 17 Ciliary Dyskinesia, Primary, 18
Ciliary Dyskinesia, Primary, 19 Ciliary Dyskinesia, Primary, 20
Ciliary Dyskinesia, Primary, 21 Ciliary Dyskinesia, Primary, 22
Ciliary Dyskinesia, Primary, 23 Ciliary Dyskinesia, Primary, 24
Ciliary Dyskinesia, Primary, 25 Ciliary Dyskinesia, Primary, 26
Ciliary Dyskinesia, Primary, 27 Ciliary Dyskinesia, Primary, 28
Ciliary Dyskinesia, Primary, 29 Ciliary Dyskinesia, Primary, 30
Ciliary Dyskinesia, Primary, 32 Ciliary Dyskinesia, Primary, 33
Ciliary Dyskinesia, Primary, 34 Ciliary Dyskinesia, Primary, 35
Ciliary Dyskinesia, Primary, 37 Ciliary Dyskinesia, Primary, 38
Ciliary Dyskinesia, Primary, 39 Ciliary Dyskinesia, Primary, 40
Ciliary Dyskinesia, Primary, 41 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules

Diseases related to Ciliary Dyskinesia, Primary, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kartagener syndrome 9.1 LOC101930593 DNAAF3
2 wolff-parkinson-white syndrome 8.8 TNNI3 LOC101930593 DNAAF3

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 2

Human phenotypes related to Ciliary Dyskinesia, Primary, 2:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 occasional (7.5%) HP:0000365
2 recurrent respiratory infections 32 HP:0002205
3 sinusitis 32 HP:0000246
4 respiratory distress 32 HP:0002098
5 otitis media 32 HP:0000388
6 infertility 32 HP:0000789
7 nasal polyposis 32 HP:0100582
8 situs inversus totalis 32 HP:0001696
9 bronchiectasis 32 HP:0002110
10 immotile cilia 32 HP:0012263
11 ciliary dyskinesia 32 HP:0012265
12 absent inner and outer dynein arms 32 HP:0012259

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
recurrent respiratory infections
respiratory distress

Head And Neck Ears:
otitis media
hearing loss (in some patients)

Cardiovascular Heart:
dextrocardia

Laboratory Abnormalities:
immotile cilia

Head And Neck Nose:
sinusitis
nasal polyps

Genitourinary:
infertility

Respiratory Lung:
bronchiectasis

Abdomen:
situs inversus

Clinical features from OMIM:

606763

UMLS symptoms related to Ciliary Dyskinesia, Primary, 2:


respiratory distress

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 2

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 2

Genetic Tests for Ciliary Dyskinesia, Primary, 2

Genetic tests related to Ciliary Dyskinesia, Primary, 2:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 2 29 DNAAF3

Anatomical Context for Ciliary Dyskinesia, Primary, 2

Publications for Ciliary Dyskinesia, Primary, 2

Articles related to Ciliary Dyskinesia, Primary, 2:

(show all 21)
# Title Authors PMID Year
1
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. 8 71
22387996 2012
2
A locus for primary ciliary dyskinesia maps to chromosome 19q. 8 71
10745040 2000
3
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 71
22801010 2012
4
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 71
20537283 2010
5
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 71
18776131 2009
6
Primary Ciliary Dyskinesia 71
20301301 2007
7
Cold stress activates disease resistance in Arabidopsis thaliana through a salicylic acid dependent pathway. 38
31087367 2019
8
Molecular characterization of bacterial, viral and fungal endosymbionts of Acanthamoeba isolates in keratitis patients of Iran. 38
30917916 2019
9
Postmastectomy radiotherapy using three different techniques: a retrospective evaluation of the incidental dose distribution in the internal mammary nodes. 38
30774438 2019
10
Assessment methods and resource requirements for milestone reporting by an emergency medicine clinical competency committee. 38
30376785 2018
11
A 10-year Isfahan cohort on cardiovascular disease as a master plan for a multi-generation non-communicable disease longitudinal study: methodology and challenges. 38
30385824 2018
12
Overexpression of VpEIFP1, a novel F-box/Kelch-repeat protein from wild Chinese Vitis pseudoreticulata, confers higher tolerance to powdery mildew by inducing thioredoxin z proteolysis. 38
28818370 2017
13
The Development of Indicator Cotton Swabs for the Detection of pH in Wounds. 38
28604631 2017
14
The biochemical properties of the two Arabidopsis thaliana isochorismate synthases. 38
28356402 2017
15
Response of phytohormones and correlation of SAR signal pathway genes to the different resistance levels of grapevine against Plasmopara viticola infection. 38
27244101 2016
16
Transcriptomic analysis of Camellia ptilophylla and identification of genes associated with flavonoid and caffeine biosynthesis. 38
26782523 2015
17
Comparison of an automated ELFA and two different real-time PCR techniques for Salmonella detection in poultry samples. 38
25261941 2014
18
Regulation of RNA-dependent RNA polymerase 1 and isochorismate synthase gene expression in Arabidopsis. 38
23799112 2013
19
Characterization and biological function of the ISOCHORISMATE SYNTHASE2 gene of Arabidopsis. 38
18451262 2008
20
Level of impaired control predicts outcome of moderation-oriented treatment for alcohol problems. 38
15955010 2005
21
[Microproteinuria and circadian rhythm of blood pressure in patients with arterial hypertension]. 38
8677191 1996

Variations for Ciliary Dyskinesia, Primary, 2

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 2:

6 (show all 14)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DNAAF3 NM_178837.4(DNAAF3): c.1412dup (p.Phe473fs) duplication Pathogenic rs1349668884 19:55670785-55670785 19:55159417-55159417
2 DNAAF3 NM_178837.4(DNAAF3): c.323T> C (p.Leu108Pro) single nucleotide variant Pathogenic rs387907151 19:55677272-55677272 19:55165904-55165904
3 DNAAF3 NM_178837.4(DNAAF3): c.406C> T (p.Arg136Ter) single nucleotide variant Pathogenic rs387907152 19:55676795-55676795 19:55165427-55165427
4 DNAAF3 NM_178837.4(DNAAF3): c.762dup (p.Val255fs) duplication Pathogenic rs397515395 19:55673053-55673053 19:55161685-55161685
5 DNAAF3 NM_178837.4(DNAAF3): c.491G> A (p.Trp164Ter) single nucleotide variant Pathogenic 19:55673631-55673631 19:55162263-55162263
6 DNAAF3 NM_178837.4(DNAAF3): c.1138dup (p.Asp380fs) duplication Conflicting interpretations of pathogenicity rs756430359 19:55672059-55672059 19:55160691-55160691
7 DNAAF3 NM_178837.4(DNAAF3): c.1730C> T (p.Pro577Leu) single nucleotide variant Uncertain significance rs200673226 19:55670467-55670467 19:55159099-55159099
8 DNAAF3 NM_178837.4(DNAAF3): c.1726del (p.Ala576fs) deletion Uncertain significance 19:55670470-55670471 19:55159104-55159104
9 DNAAF3 NM_178837.4(DNAAF3): c.1192G> A (p.Ala398Thr) single nucleotide variant Uncertain significance 19:55671379-55671379 19:55160011-55160011
10 DNAAF3 ; TNNI3 NM_178837.4(DNAAF3): c.1380-8A> G single nucleotide variant Benign/Likely benign rs28377509 19:55670825-55670825 19:55159457-55159457
11 DNAAF3 ; TNNI3 NM_178837.4(DNAAF3): c.1197G> A (p.Pro399=) single nucleotide variant Benign/Likely benign rs891187 19:55671374-55671374 19:55160006-55160006
12 DNAAF3 ; TNNI3 NM_178837.4(DNAAF3): c.1016A> G (p.Glu339Gly) single nucleotide variant Benign/Likely benign rs2365725 19:55672470-55672470 19:55161102-55161102
13 DNAAF3 ; TNNI3 NM_178837.4(DNAAF3): c.931-14C> T single nucleotide variant Benign/Likely benign rs7260371 19:55672569-55672569 19:55161201-55161201
14 DNAAF3 ; TNNI3 NM_178837.4(DNAAF3): c.807T> C (p.Ala269=) single nucleotide variant Benign/Likely benign rs7260320 19:55672784-55672784 19:55161416-55161416

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 2:

74
# Symbol AA change Variation ID SNP ID
1 DNAAF3 p.Leu61Pro VAR_067300 rs387907151

Expression for Ciliary Dyskinesia, Primary, 2

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 2.

Pathways for Ciliary Dyskinesia, Primary, 2

GO Terms for Ciliary Dyskinesia, Primary, 2

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