CILD2
MCID: CLR066
MIFTS: 24

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 58 76 30 13 6 74
Cild2 58 12 76
Primary Ciliary Dyskinesia 2 with or Without Situs Inversus 12 76
Ciliary Dyskinesia, Primary, 2, with or Without Situs Inversus 58
Dyskinesia, Ciliary, Primary, 2 41
Primary Ciliary Dyskinesia 2 12
Immotile Cilia Syndrome 2 76
Ics2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
ciliary dyskinesia, primary, 2:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 2

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 606763

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, 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 9.4 DNAAF3 LOC101930593
2 wolff-parkinson-white syndrome 9.3 DNAAF3 LOC101930593 TNNI3

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 2

Human phenotypes related to Ciliary Dyskinesia, Primary, 2:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 occasional (7.5%) HP:0000365
2 recurrent respiratory infections 33 HP:0002205
3 sinusitis 33 HP:0000246
4 respiratory distress 33 HP:0002098
5 otitis media 33 HP:0000388
6 infertility 33 HP:0000789
7 nasal polyposis 33 HP:0100582
8 situs inversus totalis 33 HP:0001696
9 bronchiectasis 33 HP:0002110
10 ciliary dyskinesia 33 HP:0012265
11 immotile cilia 33 HP:0012263
12 absent inner and outer dynein arms 33 HP:0012259

Symptoms via clinical synopsis from OMIM:

58
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

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 30 DNAAF3

Anatomical Context for Ciliary Dyskinesia, Primary, 2

Publications for Ciliary Dyskinesia, Primary, 2

Variations for Ciliary Dyskinesia, Primary, 2

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

76
# Symbol AA change Variation ID SNP ID
1 DNAAF3 p.Leu61Pro VAR_067300 rs387907151

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 rs1349668884 GRCh37 Chromosome 19, 55670785: 55670785
18 DNAAF3 NM_001256714.1(DNAAF3): c.1472dup (p.Phe493Ilefs) duplication Pathogenic rs1349668884 GRCh38 Chromosome 19, 55159417: 55159417

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

Sources for Ciliary Dyskinesia, Primary, 2

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