CILD10
MCID: CLR056
MIFTS: 18

Ciliary Dyskinesia, Primary, 10 (CILD10)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 10

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 10:

Name: Ciliary Dyskinesia, Primary, 10 58 76 30 13 6 74
Cild10 58 12 76
Primary Ciliary Dyskinesia 10 with or Without Situs Inversus 12 76
Ciliary Dyskinesia, Primary, 10, with or Without Situs Inversus 58
Dyskinesia, Ciliary, Primary, 10 41
Primary Ciliary Dyskinesia 10 12
Immotile Cilia Syndrome 10 76
Ics10 76

Characteristics:

HPO:

33
ciliary dyskinesia, primary, 10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110612
OMIM 58 612518
MeSH 45 D007619
ICD10 34 Q34.8
MedGen 43 C2675867
UMLS 74 C2675867

Summaries for Ciliary Dyskinesia, Primary, 10

UniProtKB/Swiss-Prot : 76 Ciliary dyskinesia, primary, 10: 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, 10, is also known as cild10. An important gene associated with Ciliary Dyskinesia, Primary, 10 is DNAAF2 (Dynein Axonemal Assembly Factor 2). Related phenotypes are chronic otitis media and situs inversus totalis

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has material basis in homozygous mutation in the KTU gene on chromosome 14q21.

Description from OMIM: 612518

Related Diseases for Ciliary Dyskinesia, Primary, 10

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 10

Human phenotypes related to Ciliary Dyskinesia, Primary, 10:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 chronic otitis media 33 HP:0000389
2 situs inversus totalis 33 HP:0001696
3 abnormal respiratory motile cilium morphology 33 HP:0005938
4 chronic sinusitis 33 HP:0011109
5 ciliary dyskinesia 33 HP:0012265
6 recurrent sinusitis 33 HP:0011108

Clinical features from OMIM:

612518

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 10

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 10

Genetic Tests for Ciliary Dyskinesia, Primary, 10

Genetic tests related to Ciliary Dyskinesia, Primary, 10:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 10 30 DNAAF2

Anatomical Context for Ciliary Dyskinesia, Primary, 10

Publications for Ciliary Dyskinesia, Primary, 10

Articles related to Ciliary Dyskinesia, Primary, 10:

# Title Authors Year
1
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. ( 19052621 )
2008

Variations for Ciliary Dyskinesia, Primary, 10

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 10:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAAF2 NM_018139.2(DNAAF2): c.23C> A (p.Ser8Ter) single nucleotide variant Pathogenic rs137853191 GRCh37 Chromosome 14, 50101845: 50101845
2 DNAAF2 NM_018139.2(DNAAF2): c.23C> A (p.Ser8Ter) single nucleotide variant Pathogenic rs137853191 GRCh38 Chromosome 14, 49635127: 49635127
3 DNAAF2 NM_018139.2(DNAAF2): c.1185G> C (p.Ala395=) single nucleotide variant Benign rs2985686 GRCh37 Chromosome 14, 50100683: 50100683
4 DNAAF2 NM_018139.2(DNAAF2): c.1185G> C (p.Ala395=) single nucleotide variant Benign rs2985686 GRCh38 Chromosome 14, 49633965: 49633965
5 DNAAF2 NM_018139.2(DNAAF2): c.1482A> G (p.Thr494=) single nucleotide variant Benign rs2985687 GRCh37 Chromosome 14, 50100386: 50100386
6 DNAAF2 NM_018139.2(DNAAF2): c.1482A> G (p.Thr494=) single nucleotide variant Benign rs2985687 GRCh38 Chromosome 14, 49633668: 49633668
7 DNAAF2 NM_018139.2(DNAAF2): c.186G> C (p.Glu62Asp) single nucleotide variant Benign rs2985684 GRCh37 Chromosome 14, 50101682: 50101682
8 DNAAF2 NM_018139.2(DNAAF2): c.186G> C (p.Glu62Asp) single nucleotide variant Benign rs2985684 GRCh38 Chromosome 14, 49634964: 49634964
9 DNAAF2 NM_018139.2(DNAAF2): c.498C> T (p.Ala166=) single nucleotide variant Benign rs2985685 GRCh37 Chromosome 14, 50101370: 50101370
10 DNAAF2 NM_018139.2(DNAAF2): c.498C> T (p.Ala166=) single nucleotide variant Benign rs2985685 GRCh38 Chromosome 14, 49634652: 49634652
11 DNAAF2; MGAT2 NM_018139.2(DNAAF2): c.2303A> G (p.Asp768Gly) single nucleotide variant Benign rs9989177 GRCh37 Chromosome 14, 50092471: 50092471
12 DNAAF2; MGAT2 NM_018139.2(DNAAF2): c.2303A> G (p.Asp768Gly) single nucleotide variant Benign rs9989177 GRCh38 Chromosome 14, 49625753: 49625753
13 DNAAF2 NM_018139.2(DNAAF2): c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs) duplication Pathogenic rs397515341 GRCh38 Chromosome 14, 49633936: 49633951
14 DNAAF2 NM_018139.2(DNAAF2): c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs) duplication Pathogenic rs397515341 GRCh37 Chromosome 14, 50100654: 50100669
15 DNAAF2 NM_018139.2(DNAAF2): c.1969C> T (p.Leu657Phe) single nucleotide variant Uncertain significance rs187863107 GRCh38 Chromosome 14, 49628050: 49628050
16 DNAAF2 NM_018139.2(DNAAF2): c.1969C> T (p.Leu657Phe) single nucleotide variant Uncertain significance rs187863107 GRCh37 Chromosome 14, 50094768: 50094768

Expression for Ciliary Dyskinesia, Primary, 10

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 10.

Pathways for Ciliary Dyskinesia, Primary, 10

GO Terms for Ciliary Dyskinesia, Primary, 10

Sources for Ciliary Dyskinesia, Primary, 10

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