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 ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Cild2 ⁵⁷ ¹² ⁷⁵

Primary Ciliary Dyskinesia 2 with or Without Situs Inversus ¹² ⁷⁵

Ciliary Dyskinesia, Primary, 2, with or Without Situs Inversus ⁵⁷

Dyskinesia, Ciliary, Primary, 2 ⁴⁰

Primary Ciliary Dyskinesia 2 ¹²

Immotile Cilia Syndrome 2 ⁷⁵

Ics2 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases

See all MalaCards categories (disease lists)

ICD10: ³³

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:

OMIM ⁵⁷ 606763

Disease Ontology ¹² DOID:0110626

ICD10 ³³ Q34.8

MedGen ⁴² C1847554

MeSH ⁴⁴ D002925 D007619

UMLS ⁷³ C1847554

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Summaries for Ciliary Dyskinesia, Primary, 2

UniProtKB/Swiss-Prot : ⁷⁵ 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 has symptoms including respiratory distress An important gene associated with Ciliary Dyskinesia, Primary, 2 is DNAAF3 (Dynein Axonemal Assembly Factor 3). Related phenotypes are sinusitis and hearing impairment

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.

Description from OMIM: 606763

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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, 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	9.0	DNAAF3 LOC101930593

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Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 2

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

Abdomen:
situs inversus

Head And Neck Nose:
sinusitis
nasal polyps

Genitourinary:
infertility

Respiratory Lung:
bronchiectasis

Laboratory Abnormalities:
immotile cilia

Clinical features from OMIM:

606763

Human phenotypes related to Ciliary Dyskinesia, Primary, 2:

³² (show all 12)

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

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

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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	1338.08	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Gene name Variants (show sections)	10745040 22387996 20301301
2	LOC101930593	Uncharacterized LOC101930593	RNA Gene	7.72	GeneCards inferred via : Variants (show sections)

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Variations for Ciliary Dyskinesia, Primary, 2

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

⁷⁵

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

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

⁶

(show all 18)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	DNAAF3	NM_001256714.1(DNAAF3): c.386T> C (p.Leu129Pro)	single nucleotide variant	Pathogenic	rs387907151	GRCh37	Chromosome 19, 55677272: 55677272
2	DNAAF3	NM_001256714.1(DNAAF3): c.386T> C (p.Leu129Pro)	single nucleotide variant	Pathogenic	rs387907151	GRCh38	Chromosome 19, 55165904: 55165904
3	DNAAF3	NM_001256714.1(DNAAF3): c.469C> T (p.Arg157Ter)	single nucleotide variant	Pathogenic	rs387907152	GRCh37	Chromosome 19, 55676795: 55676795
4	DNAAF3	NM_001256714.1(DNAAF3): c.469C> T (p.Arg157Ter)	single nucleotide variant	Pathogenic	rs387907152	GRCh38	Chromosome 19, 55165427: 55165427
5	DNAAF3	NM_001256714.1(DNAAF3): c.825dupT (p.Val276Cysfs)	duplication	Pathogenic	rs397515395	GRCh37	Chromosome 19, 55673053: 55673053
6	DNAAF3	NM_001256714.1(DNAAF3): c.825dupT (p.Val276Cysfs)	duplication	Pathogenic	rs397515395	GRCh38	Chromosome 19, 55161685: 55161685
7	DNAAF3; TNNI3	NM_001256714.1(DNAAF3): c.1440-8A> G	single nucleotide variant	Benign/Likely benign	rs28377509	GRCh37	Chromosome 19, 55670825: 55670825
8	DNAAF3; TNNI3	NM_001256714.1(DNAAF3): c.1440-8A> G	single nucleotide variant	Benign/Likely benign	rs28377509	GRCh38	Chromosome 19, 55159457: 55159457
9	DNAAF3; TNNI3	NM_001256714.1(DNAAF3): c.1257G> A (p.Pro419=)	single nucleotide variant	Benign/Likely benign	rs891187	GRCh37	Chromosome 19, 55671374: 55671374
10	DNAAF3; TNNI3	NM_001256714.1(DNAAF3): c.1257G> A (p.Pro419=)	single nucleotide variant	Benign/Likely benign	rs891187	GRCh38	Chromosome 19, 55160006: 55160006
11	DNAAF3; TNNI3	NM_001256714.1(DNAAF3): c.1079A> G (p.Glu360Gly)	single nucleotide variant	Benign/Likely benign	rs2365725	GRCh38	Chromosome 19, 55161102: 55161102
12	DNAAF3; TNNI3	NM_001256714.1(DNAAF3): c.1079A> G (p.Glu360Gly)	single nucleotide variant	Benign/Likely benign	rs2365725	GRCh37	Chromosome 19, 55672470: 55672470
13	DNAAF3; TNNI3	NM_001256714.1(DNAAF3): c.994-14C> T	single nucleotide variant	Benign/Likely benign	rs7260371	GRCh37	Chromosome 19, 55672569: 55672569
14	DNAAF3; TNNI3	NM_001256714.1(DNAAF3): c.994-14C> T	single nucleotide variant	Benign/Likely benign	rs7260371	GRCh38	Chromosome 19, 55161201: 55161201
15	DNAAF3; TNNI3	NM_001256714.1(DNAAF3): c.870T> C (p.Ala290=)	single nucleotide variant	Benign/Likely benign	rs7260320	GRCh37	Chromosome 19, 55672784: 55672784
16	DNAAF3; TNNI3	NM_001256714.1(DNAAF3): c.870T> C (p.Ala290=)	single nucleotide variant	Benign/Likely benign	rs7260320	GRCh38	Chromosome 19, 55161416: 55161416
17	DNAAF3	NM_001256714.1(DNAAF3): c.1472dup (p.Phe493Ilefs)	duplication	Pathogenic		GRCh37	Chromosome 19, 55670785: 55670785
18	DNAAF3	NM_001256714.1(DNAAF3): c.1472dup (p.Phe493Ilefs)	duplication	Pathogenic		GRCh38	Chromosome 19, 55159417: 55159417

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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

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