MCID: CLR066
MIFTS: 22

Ciliary Dyskinesia, Primary, 2

Categories: Genetic diseases, Rare diseases

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:



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

Related Diseases for Ciliary Dyskinesia, Primary, 2

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

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

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

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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