Ciliary Dyskinesia, Primary, 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Reproductive diseases Respiratory diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the respiratory system

Other congenital malformations of respiratory system

Other specified congenital malformations of respiratory system

External Ids:

Disease Ontology ¹² DOID:0110626

OMIM ⁵⁶ 606763

OMIM Phenotypic Series ⁵⁶ PS244400

MeSH ⁴³ D002925 D007619

ICD10 ³² Q34.8

MedGen ⁴¹ C1847554

UMLS ⁷¹ C1847554

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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

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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:

#	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:

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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:

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

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Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 2

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

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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

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Anatomical Context for Ciliary Dyskinesia, Primary, 2

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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	Mitchison HM...Mitchell DR	22387996	2012
2	A locus for primary ciliary dyskinesia maps to chromosome 19q. ⁵⁶ ⁶	Meeks M...Chung E	10745040	2000
3	New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. ⁶	Mata M...Cortijo J	22801010	2012
4	Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. ⁶	Milara J...Cortijo J	20537283	2010
5	Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. ⁶	Fernandez-Gonzalez A...Mitsialis SA	18776131	2009
6	Primary Ciliary Dyskinesia ⁶	Zariwala MA...Leigh MW	20301301	2007
7	Low Temperature Enhances Plant Immunity via Salicylic Acid Pathway Genes That Are Repressed by Ethylene. ⁶¹	Li Z...Hua J	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	Sarrafzadegan N...Mansourian M	30385824	2019
9	Cold stress activates disease resistance in Arabidopsis thaliana through a salicylic acid dependent pathway. ⁶¹	Wu Z...Yang W	31087367	2019
10	Molecular characterization of bacterial, viral and fungal endosymbionts of Acanthamoeba isolates in keratitis patients of Iran. ⁶¹	Hajialilo E...Khodavaisy S	30917916	2019
11	Postmastectomy radiotherapy using three different techniques: a retrospective evaluation of the incidental dose distribution in the internal mammary nodes. ⁶¹	Wang W...Li J	30774438	2019
12	Assessment methods and resource requirements for milestone reporting by an emergency medicine clinical competency committee. ⁶¹	Goyal N...Vallee P	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	Wang J...Wang Y	28818370	2017
14	The Development of Indicator Cotton Swabs for the Detection of pH in Wounds. ⁶¹	Schaude C...Mohr GJ	28604631	2017
15	The biochemical properties of the two Arabidopsis thaliana isochorismate synthases. ⁶¹	Macaulay KM...Smith AG	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	Liu SL...Zhang YL	27244101	2016
17	Transcriptomic analysis of Camellia ptilophylla and identification of genes associated with flavonoid and caffeine biosynthesis. ⁶¹	Li MM...Hang YY	26782523	2015
18	Comparison of an automated ELFA and two different real-time PCR techniques for Salmonella detection in poultry samples. ⁶¹	Rohonczy K...Tabajdi-Pinter V	25261941	2014
19	Regulation of RNA-dependent RNA polymerase 1 and isochorismate synthase gene expression in Arabidopsis. ⁶¹	Hunter LJ...Carr JP	23799112	2013
20	Characterization and biological function of the ISOCHORISMATE SYNTHASE2 gene of Arabidopsis. ⁶¹	Garcion C...Metraux JP	18451262	2008
21	Level of impaired control predicts outcome of moderation-oriented treatment for alcohol problems. ⁶¹	Heather N...Dawe S	15955010	2005
22	[Microproteinuria and circadian rhythm of blood pressure in patients with arterial hypertension]. ⁶¹	Marczewski K...Klimek K	8677191	1996

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Genes for Ciliary Dyskinesia, Primary, 2

Genes related to Ciliary Dyskinesia, Primary, 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DNAAF3	Dynein Axonemal Assembly Factor 3	Protein Coding	1335.72	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	10745040 20301301 22387996
2	TNNI3	Troponin I3, Cardiac Type	Protein Coding	8.28	GeneCards inferred via : Variants (show sections)
3	DAW1	Dynein Assembly Factor With WD Repeats 1	Protein Coding	6.54	DISEASES inferred ¹⁵
4	DNAH17	Dynein Axonemal Heavy Chain 17	Protein Coding	6.16	DISEASES inferred ¹⁵
5	DNAH8	Dynein Axonemal Heavy Chain 8	Protein Coding	5.99	DISEASES inferred ¹⁵

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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>G	SNV	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>T	SNV	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

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Expression for Ciliary Dyskinesia, Primary, 2

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

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Pathways for Ciliary Dyskinesia, Primary, 2

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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	9.58	DNAH8 DNAH17 DAW1
2	cilium	GO:0005929	9.43	DNAH8 DNAH17 DAW1
3	axoneme	GO:0005930	9.37	DNAH8 DNAH17
4	sperm flagellum	GO:0036126	9.32	DNAH8 DNAH17
5	dynein complex	GO:0030286	9.16	DNAH8 DNAH17
6	outer dynein arm	GO:0036157	8.96	DNAH8 DNAH17
7	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	9.16	DNAH8 DNAH17
2	outer dynein arm assembly	GO:0036158	8.96	DNAH8 DNAH17
3	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 intermediate chain binding	GO:0045505	9.16	DNAH8 DNAH17
4	dynein light intermediate chain binding	GO:0051959	8.96	DNAH8 DNAH17
5	ATP-dependent microtubule motor activity, minus-end-directed	GO:0008569	8.62	DNAH8 DNAH17

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Sources for Ciliary Dyskinesia, Primary, 2

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⁶⁹ TGDB

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Ciliary Dyskinesia, Primary, 2 (CILD2)

Aliases & Classifications for Ciliary Dyskinesia, Primary, 2

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Ciliary Dyskinesia, Primary, 2

Related Diseases for Ciliary Dyskinesia, Primary, 2

Diseases in the Primary Ciliary Dyskinesia family:

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

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

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 2

Human phenotypes related to Ciliary Dyskinesia, Primary, 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Ciliary Dyskinesia, Primary, 2:

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 2

Genetic Tests for Ciliary Dyskinesia, Primary, 2

Genetic tests related to Ciliary Dyskinesia, Primary, 2:

Anatomical Context for Ciliary Dyskinesia, Primary, 2

Publications for Ciliary Dyskinesia, Primary, 2

Articles related to Ciliary Dyskinesia, Primary, 2:

Genes for Ciliary Dyskinesia, Primary, 2

Genes related to Ciliary Dyskinesia, Primary, 2 (1 elite genes):

Variations for Ciliary Dyskinesia, Primary, 2

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

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

Expression 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:

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

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

Sources for Ciliary Dyskinesia, Primary, 2