CILD2
MCID: CLR066
MIFTS: 39

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 72 29 13 6 70
Cild2 57 12 72
Primary Ciliary Dyskinesia 2 with or Without Situs Inversus 12 72
Primary Ciliary Dyskinesia 2 12 15
Ciliary Dyskinesia, Primary, 2, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 2 39
Immotile Cilia Syndrome 2 72
Ics2 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
ciliary dyskinesia, primary, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 2

UniProtKB/Swiss-Prot : 72 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 pulmonary subvalvular stenosis and osteogenesis imperfecta, type xi, and has symptoms including respiratory distress An important gene associated with Ciliary Dyskinesia, Primary, 2 is DNAAF3 (Dynein Axonemal Assembly Factor 3), and among its related pathways/superpathways is Pathways of neurodegeneration - multiple diseases. 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, Primary, 42
Ciliary Dyskinesia, Primary, 43 Ciliary Dyskinesia, Primary, 44
Ciliary Dyskinesia, Primary, 45 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:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 pulmonary subvalvular stenosis 10.2 DNAAF3 DNAAF1
2 osteogenesis imperfecta, type xi 10.2 DNALI1 DNAH9
3 ethmoid sinusitis 10.1 DNALI1 DNAI1
4 ciliary dyskinesia, primary, 13 10.1 DNAAF2 DNAAF1
5 osteogenesis imperfecta, type xiv 10.0 DNAH9 DNAH5
6 ciliary dyskinesia, primary, 10 10.0 NME8 DNAI2 DNAAF2
7 restrictive cardiomyopathy 10.0 TNNI3 DNAH8 DNAAF3
8 ciliary dyskinesia, primary, 8 9.8 DNAI1 DNAH5 DNAH11
9 ciliary dyskinesia, primary, 4 9.8 DNAI1 DNAH5 DNAH11
10 dextrocardia 9.8 DNAI1 DNAH5 DNAH11
11 dextro-looped transposition of the great arteries 9.7 DNAI1 DNAH5 DNAH11 DAW1
12 ciliary dyskinesia, primary, 9 9.7 NME8 DYNC1I2 DNAI2 DNAAF2
13 middle ear disease 9.7 DNAI2 DNAI1 DNAH5 DNAH11
14 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1 9.6 DNAAF2 CYP1A1
15 right atrial isomerism 9.6 DNALI1 DNAI1 DNAH9 DNAH5 DNAH11
16 paranasal sinus disease 9.5 DNAI2 DNAI1 DNAH5 DNAH11 DNAAF2
17 joubert syndrome 1 9.5 DNAI1 DNAH9 DNAH5 DNAH11 DNAAF1
18 bronchiectasis 9.4 DNAI2 DNAI1 DNAH5 DNAH11 DNAAF2 DNAAF1
19 infertility 9.3 DNAI1 DNAH5 DNAH17 DNAH11 CYP1A1
20 situs inversus 9.0 NME8 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
21 male infertility 8.9 DNALI1 DNAI1 DNAH9 DNAH8 DNAH5 DNAH17
22 retinitis pigmentosa 8.8 NME8 HSP90AA1 DNAI2 DNAI1 DNAH8 DNAH5
23 visceral heterotaxy 8.7 NME8 DNALI1 DNAI2 DNAI1 DNAH9 DNAH5
24 ciliary dyskinesia, primary, 1 8.6 NME8 DNALI1 DNAI2 DNAI1 DNAH9 DNAH8
25 kartagener syndrome 8.6 NME8 DNALI1 DNAI2 DNAI1 DNAH9 DNAH8
26 primary ciliary dyskinesia 8.0 TNNI3 NME8 DYNC1I2 DNALI1 DNAI2 DNAI1

Graphical network of the top 20 diseases related to Ciliary Dyskinesia, Primary, 2:



Diseases related to Ciliary Dyskinesia, Primary, 2

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 2

Human phenotypes related to Ciliary Dyskinesia, Primary, 2:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 recurrent respiratory infections 31 HP:0002205
3 sinusitis 31 HP:0000246
4 otitis media 31 HP:0000388
5 infertility 31 HP:0000789
6 nasal polyposis 31 HP:0100582
7 situs inversus totalis 31 HP:0001696
8 respiratory distress 31 HP:0002098
9 bronchiectasis 31 HP:0002110
10 ciliary dyskinesia 31 HP:0012265
11 immotile cilia 31 HP:0012263
12 absent inner and outer dynein arms 31 HP:0012259

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory:
recurrent respiratory infections
respiratory distress

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

Cardiovascular Heart:
dextrocardia

Laboratory Abnormalities:
immotile cilia

Respiratory Nasopharynx:
sinusitis
nasal polyps

Genitourinary Internal Genitalia Male:
infertility
immotile sperm

Respiratory Lung:
bronchiectasis

Abdomen:
situs inversus

Clinical features from OMIM®:

606763 (Updated 05-Apr-2021)

UMLS symptoms related to Ciliary Dyskinesia, Primary, 2:


respiratory distress

MGI Mouse Phenotypes related to Ciliary Dyskinesia, Primary, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.65 CYP27B1 DNAAF2 DNAAF3 DNAH11 DNAH5 DNAH8
2 respiratory system MP:0005388 9.17 DNAAF2 DNAAF3 DNAH11 DNAH5 DNAI1 DNAI2

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 18)
# Title Authors PMID Year
1
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. 57 6
22387996 2012
2
A locus for primary ciliary dyskinesia maps to chromosome 19q. 6 57
10745040 2000
3
Low Temperature Enhances Plant Immunity via Salicylic Acid Pathway Genes That Are Repressed by Ethylene. 61
31694900 2020
4
A 10-year Isfahan cohort on cardiovascular disease as a master plan for a multi-generation non-communicable disease longitudinal study: methodology and challenges. 61
30385824 2019
5
Cold stress activates disease resistance in Arabidopsis thaliana through a salicylic acid dependent pathway. 61
31087367 2019
6
Molecular characterization of bacterial, viral and fungal endosymbionts of Acanthamoeba isolates in keratitis patients of Iran. 61
30917916 2019
7
Postmastectomy radiotherapy using three different techniques: a retrospective evaluation of the incidental dose distribution in the internal mammary nodes. 61
30774438 2019
8
Assessment methods and resource requirements for milestone reporting by an emergency medicine clinical competency committee. 61
30376785 2018
9
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. 61
28818370 2017
10
The Development of Indicator Cotton Swabs for the Detection of pH in Wounds. 61
28604631 2017
11
The biochemical properties of the two Arabidopsis thaliana isochorismate synthases. 61
28356402 2017
12
Response of phytohormones and correlation of SAR signal pathway genes to the different resistance levels of grapevine against Plasmopara viticola infection. 61
27244101 2016
13
Transcriptomic analysis of Camellia ptilophylla and identification of genes associated with flavonoid and caffeine biosynthesis. 61
26782523 2015
14
Comparison of an automated ELFA and two different real-time PCR techniques for Salmonella detection in poultry samples. 61
25261941 2014
15
Regulation of RNA-dependent RNA polymerase 1 and isochorismate synthase gene expression in Arabidopsis. 61
23799112 2013
16
Characterization and biological function of the ISOCHORISMATE SYNTHASE2 gene of Arabidopsis. 61
18451262 2008
17
Level of impaired control predicts outcome of moderation-oriented treatment for alcohol problems. 61
15955010 2005
18
[Microproteinuria and circadian rhythm of blood pressure in patients with arterial hypertension]. 61
8677191 1996

Variations for Ciliary Dyskinesia, Primary, 2

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

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAAF3 NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs) Duplication Pathogenic 495054 rs1349668884 GRCh37: 19:55670784-55670785
GRCh38: 19:55159416-55159417
2 DNAAF3 NM_001256715.2(DNAAF3):c.182T>C (p.Leu61Pro) SNV Pathogenic 31532 rs387907151 GRCh37: 19:55677272-55677272
GRCh38: 19:55165904-55165904
3 DNAAF3 NM_001256715.2(DNAAF3):c.350G>A (p.Trp117Ter) SNV Pathogenic 572342 rs770403610 GRCh37: 19:55673631-55673631
GRCh38: 19:55162263-55162263
4 DNAAF3 NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter) SNV Pathogenic 31533 rs387907152 GRCh37: 19:55676795-55676795
GRCh38: 19:55165427-55165427
5 DNAAF3 NM_001256715.2(DNAAF3):c.621dup (p.Val208fs) Duplication Pathogenic 31534 rs397515395 GRCh37: 19:55673052-55673053
GRCh38: 19:55161684-55161685
6 DNAAF3 NM_001256715.2(DNAAF3):c.922G>T (p.Glu308Ter) SNV Pathogenic 1031256 GRCh37: 19:55672134-55672134
GRCh38: 19:55160766-55160766
7 DNAAF3 NM_001256715.2(DNAAF3):c.1049-1G>A SNV Pathogenic 330211 rs199590885 GRCh37: 19:55671382-55671382
GRCh38: 19:55160014-55160014
8 DNAAF3 NM_001256715.2(DNAAF3):c.1164-1G>C SNV Pathogenic 1033796 GRCh37: 19:55670976-55670976
GRCh38: 19:55159608-55159608
9 DNAAF3 NM_001256715.2(DNAAF3):c.481-1G>A SNV Pathogenic 1033797 GRCh37: 19:55673194-55673194
GRCh38: 19:55161826-55161826
10 DNAAF3 NM_001256715.2(DNAAF3):c.789+1G>C SNV Pathogenic 410289 rs770143722 GRCh37: 19:55672660-55672660
GRCh38: 19:55161292-55161292
11 DNAAF3 NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu) SNV Uncertain significance 330207 rs200673226 GRCh37: 19:55670467-55670467
GRCh38: 19:55159099-55159099
12 DNAAF3 NM_001256715.2(DNAAF3):c.1585del (p.Ala529fs) Deletion Uncertain significance 632321 rs1371933770 GRCh37: 19:55670471-55670471
GRCh38: 19:55159103-55159103
13 TNNI3 , DNAAF3 NM_001256715.2(DNAAF3):c.790-14C>T SNV Benign 257695 rs7260371 GRCh37: 19:55672569-55672569
GRCh38: 19:55161201-55161201
14 TNNI3 , DNAAF3 NM_001256715.2(DNAAF3):c.1239-8A>G SNV Benign 257684 rs28377509 GRCh37: 19:55670825-55670825
GRCh38: 19:55159457-55159457
15 TNNI3 , DNAAF3 NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) SNV Benign 257680 rs891187 GRCh37: 19:55671374-55671374
GRCh38: 19:55160006-55160006
16 TNNI3 , DNAAF3 NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) SNV Benign 257694 rs7260320 GRCh37: 19:55672784-55672784
GRCh38: 19:55161416-55161416
17 TNNI3 , DNAAF3 NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) SNV Benign 257676 rs2365725 GRCh37: 19:55672470-55672470
GRCh38: 19:55161102-55161102

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

72
# 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

Pathways related to Ciliary Dyskinesia, Primary, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 DNALI1 DNAI2 DNAI1 DNAH9 DNAH8 DNAH5

GO Terms for Ciliary Dyskinesia, Primary, 2

Cellular components related to Ciliary Dyskinesia, Primary, 2 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.41 TNNI3 NME8 HSP90AA1 DYNC1I2 DNALI1 DNAI2
2 cytoskeleton GO:0005856 10.16 DYNC1I2 DNAI2 DNAI1 DNAH9 DNAH8 DNAH5
3 cell projection GO:0042995 10.16 DNALI1 DNAI2 DNAI1 DNAH9 DNAH8 DNAH5
4 cilium GO:0005929 10.02 DNALI1 DNAI2 DNAI1 DNAH9 DNAH8 DNAH5
5 microtubule GO:0005874 9.97 DYNC1I2 DNAI2 DNAI1 DNAH9 DNAH8 DNAH5
6 motile cilium GO:0031514 9.91 DNALI1 DNAH9 DNAH8 DNAH5 DNAH17 DNAH11
7 sperm flagellum GO:0036126 9.8 DNALI1 DNAI2 DNAH8 DNAH17
8 9+2 motile cilium GO:0097729 9.73 DNALI1 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
9 axonemal dynein complex GO:0005858 9.71 DNAI2 DNAH8 DNAH5 DNAH17
10 outer dynein arm GO:0036157 9.7 NME8 DNAI2 DNAI1 DNAH9 DNAH8 DNAH5
11 dynein complex GO:0030286 9.61 DYNC1I2 DNALI1 DNAI2 DNAI1 DNAH9 DNAH8
12 axoneme GO:0005930 9.28 NME8 DNALI1 DNAI2 DNAH9 DNAH8 DNAH5

Biological processes related to Ciliary Dyskinesia, Primary, 2 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.85 TNNI3 DNAI1 DNAH5 DNAH11 DAW1
2 cilium assembly GO:0060271 9.83 NME8 DNAI2 DNAH5 DNAAF1
3 cell projection organization GO:0030030 9.78 DNAI2 DNAI1 DNAH9 DNAAF3
4 flagellated sperm motility GO:0030317 9.73 NME8 DNAI1 DNAH5 DNAH11
5 determination of left/right symmetry GO:0007368 9.72 DNAI2 DNAI1 DNAH5 DNAH11 DAW1
6 cilium movement GO:0003341 9.7 DNAI2 DNAI1 DNAH9 DNAH5 DNAH17 DNAH11
7 epithelial cilium movement GO:0003351 9.65 DNAI1 DNAH5 DNAH11 DNAAF2 DAW1
8 response to antibiotic GO:0046677 9.58 HSP90AA1 CYP1A1
9 axonemal dynein complex assembly GO:0070286 9.58 DNAAF3 DNAAF2 DNAAF1
10 motile cilium assembly GO:0044458 9.57 DNAAF3 DNAAF1
11 inner dynein arm assembly GO:0036159 9.56 DNAAF2 DNAAF1
12 microtubule-based movement GO:0007018 9.56 DYNC1I2 DNAI2 DNAI1 DNAH9 DNAH8 DNAH5
13 vitamin D metabolic process GO:0042359 9.55 CYP27B1 CYP1A1
14 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.54 DNAH11 DNAAF1
15 cilium-dependent cell motility GO:0060285 9.54 DNAH8 DNAH17 DNAAF2
16 establishment of localization in cell GO:0051649 9.51 DNAH5 DAW1
17 regulation of cilium beat frequency GO:0003356 9.49 DNAH11 DNAAF1
18 outer dynein arm assembly GO:0036158 9.23 DNAI2 DNAI1 DNAH8 DNAH5 DNAH17 DNAAF2

Molecular functions related to Ciliary Dyskinesia, Primary, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein intermediate chain binding GO:0045505 9.72 DNAH9 DNAH8 DNAH5 DNAH17 DNAH11
2 dynein heavy chain binding GO:0045504 9.67 DYNC1I2 DNALI1 DNAI2 DNAI1
3 dynein light intermediate chain binding GO:0051959 9.65 DNAH9 DNAH8 DNAH5 DNAH17 DNAH11
4 dynein light chain binding GO:0045503 9.58 DYNC1I2 DNAI2 DNAI1
5 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.55 DNAH9 DNAH8 DNAH5 DNAH17 DNAH11
6 microtubule motor activity GO:0003777 9.5 DYNC1I2 DNAI2 DNAH9 DNAH8 DNAH5 DNAH17
7 motor activity GO:0003774 9.28 DYNC1I2 DNALI1 DNAI2 DNAI1 DNAH9 DNAH8

Sources for Ciliary Dyskinesia, Primary, 2

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....