CILD2
MCID: CLR066
MIFTS: 33

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 56 73 29 13 6 71
Cild2 56 12 73
Primary Ciliary Dyskinesia 2 with or Without Situs Inversus 12 73
Primary Ciliary Dyskinesia 2 12 15
Ciliary Dyskinesia, Primary, 2, with or Without Situs Inversus 56
Dyskinesia, Ciliary, Primary, 2 39
Immotile Cilia Syndrome 2 73
Ics2 73

Characteristics:

OMIM:

56
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 : 73 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 wolff-parkinson-white syndrome and ciliary dyskinesia, primary, 1, 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, Primary, 42
Ciliary Dyskinesia, Primary, 43 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 wolff-parkinson-white syndrome 9.7 TNNI3 DNAAF3
2 ciliary dyskinesia, primary, 1 9.7 DNAAF3 DAW1
3 visceral heterotaxy 9.4 DNAAF3 DAW1
4 restrictive cardiomyopathy 9.4 TNNI3 DNAH8 DNAAF3
5 kartagener syndrome 9.2 DNAH8 DNAH17 DNAAF3
6 primary ciliary dyskinesia 8.4 TNNI3 DNAH8 DNAH17 DNAAF3 DAW1

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 respiratory distress 31 HP:0002098
5 otitis media 31 HP:0000388
6 infertility 31 HP:0000789
7 nasal polyposis 31 HP:0100582
8 situs inversus totalis 31 HP:0001696
9 bronchiectasis 31 HP:0002110
10 immotile cilia 31 HP:0012263
11 ciliary dyskinesia 31 HP:0012265
12 absent inner and outer dynein arms 31 HP:0012259

Symptoms via clinical synopsis from OMIM:

56
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

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 22)
# Title Authors PMID Year
1
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. 56 6
22387996 2012
2
A locus for primary ciliary dyskinesia maps to chromosome 19q. 56 6
10745040 2000
3
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
4
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
5
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
6
Primary Ciliary Dyskinesia 6
20301301 2007
7
Low Temperature Enhances Plant Immunity via Salicylic Acid Pathway Genes That Are Repressed by Ethylene. 61
31694900 2020
8
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
9
Cold stress activates disease resistance in Arabidopsis thaliana through a salicylic acid dependent pathway. 61
31087367 2019
10
Molecular characterization of bacterial, viral and fungal endosymbionts of Acanthamoeba isolates in keratitis patients of Iran. 61
30917916 2019
11
Postmastectomy radiotherapy using three different techniques: a retrospective evaluation of the incidental dose distribution in the internal mammary nodes. 61
30774438 2019
12
Assessment methods and resource requirements for milestone reporting by an emergency medicine clinical competency committee. 61
30376785 2018
13
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
14
The Development of Indicator Cotton Swabs for the Detection of pH in Wounds. 61
28604631 2017
15
The biochemical properties of the two Arabidopsis thaliana isochorismate synthases. 61
28356402 2017
16
Response of phytohormones and correlation of SAR signal pathway genes to the different resistance levels of grapevine against Plasmopara viticola infection. 61
27244101 2016
17
Transcriptomic analysis of Camellia ptilophylla and identification of genes associated with flavonoid and caffeine biosynthesis. 61
26782523 2015
18
Comparison of an automated ELFA and two different real-time PCR techniques for Salmonella detection in poultry samples. 61
25261941 2014
19
Regulation of RNA-dependent RNA polymerase 1 and isochorismate synthase gene expression in Arabidopsis. 61
23799112 2013
20
Characterization and biological function of the ISOCHORISMATE SYNTHASE2 gene of Arabidopsis. 61
18451262 2008
21
Level of impaired control predicts outcome of moderation-oriented treatment for alcohol problems. 61
15955010 2005
22
[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 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAAF3 NM_001256715.2(DNAAF3):c.182T>C (p.Leu61Pro)SNV Pathogenic 31532 rs387907151 19:55677272-55677272 19:55165904-55165904
2 DNAAF3 NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter)SNV Pathogenic 31533 rs387907152 19:55676795-55676795 19:55165427-55165427
3 DNAAF3 NM_001256715.2(DNAAF3):c.621dup (p.Val208fs)duplication Pathogenic 31534 rs397515395 19:55673052-55673053 19:55161684-55161685
4 DNAAF3 NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs)duplication Pathogenic 495054 rs1349668884 19:55670784-55670785 19:55159416-55159417
5 DNAAF3 NM_001256715.2(DNAAF3):c.350G>A (p.Trp117Ter)SNV Pathogenic 572342 rs770403610 19:55673631-55673631 19:55162263-55162263
6 DNAAF3 NM_001256715.2(DNAAF3):c.997dup (p.Asp333fs)duplication Conflicting interpretations of pathogenicity 410279 rs756430359 19:55672058-55672059 19:55160690-55160691
7 DNAAF3 NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu)SNV Uncertain significance 330207 rs200673226 19:55670467-55670467 19:55159099-55159099
8 DNAAF3 NM_001256715.2(DNAAF3):c.1585del (p.Ala529fs)deletion Uncertain significance 632321 rs1371933770 19:55670471-55670471 19:55159103-55159103
9 DNAAF3 NM_001256715.2(DNAAF3):c.1051G>A (p.Ala351Thr)SNV Uncertain significance 632322 rs748600370 19:55671379-55671379 19:55160011-55160011
10 DNAAF3 , TNNI3 NM_001256715.2(DNAAF3):c.1239-8A>GSNV Benign/Likely benign 257684 rs28377509 19:55670825-55670825 19:55159457-55159457
11 DNAAF3 , TNNI3 NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=)SNV Benign/Likely benign 257680 rs891187 19:55671374-55671374 19:55160006-55160006
12 DNAAF3 , TNNI3 NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly)SNV Benign/Likely benign 257676 rs2365725 19:55672470-55672470 19:55161102-55161102
13 DNAAF3 , TNNI3 NM_001256715.2(DNAAF3):c.790-14C>TSNV Benign/Likely benign 257695 rs7260371 19:55672569-55672569 19:55161201-55161201
14 DNAAF3 , TNNI3 NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=)SNV Benign/Likely benign 257694 rs7260320 19:55672784-55672784 19:55161416-55161416

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

73
# 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

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.43 DNAH8 DNAH17 DAW1
2 cilium GO:0005929 9.33 DNAH8 DNAH17 DAW1
3 dynein complex GO:0030286 8.96 DNAH8 DNAH17
4 axonemal dynein complex GO:0005858 8.62 DNAH8 DNAH17

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

# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 8.96 DNAH8 DNAH17
2 cilium-dependent cell motility GO:0060285 8.62 DNAH8 DNAH17

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

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 9.32 DNAH8 DNAH17
2 microtubule motor activity GO:0003777 9.26 DNAH8 DNAH17
3 dynein light intermediate chain binding GO:0051959 9.16 DNAH8 DNAH17
4 dynein intermediate chain binding GO:0045505 8.96 DNAH8 DNAH17
5 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 8.62 DNAH8 DNAH17

Sources for Ciliary Dyskinesia, Primary, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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