MCID: CLR056
MIFTS: 19

Ciliary Dyskinesia, Primary, 10

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 10

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 10:

Name: Ciliary Dyskinesia, Primary, 10 57 75 29 13 6 73
Cild10 57 12 75
Primary Ciliary Dyskinesia 10 with or Without Situs Inversus 12 75
Ciliary Dyskinesia, Primary, 10, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 10 40
Primary Ciliary Dyskinesia 10 12
Immotile Cilia Syndrome 10 75
Ics10 75

Characteristics:

HPO:

32
ciliary dyskinesia, primary, 10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612518
Disease Ontology 12 DOID:0110612
ICD10 33 Q34.8
MedGen 42 C2675867
MeSH 44 D007619
UMLS 73 C2675867

Summaries for Ciliary Dyskinesia, Primary, 10

UniProtKB/Swiss-Prot : 75 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

Clinical features from OMIM:

612518

Human phenotypes related to Ciliary Dyskinesia, Primary, 10:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 chronic otitis media 32 HP:0000389
2 situs inversus totalis 32 HP:0001696
3 abnormal respiratory motile cilium morphology 32 HP:0005938
4 recurrent sinusitis 32 HP:0011108
5 chronic sinusitis 32 HP:0011109
6 ciliary dyskinesia 32 HP:0012265

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 29 DNAAF2

Anatomical Context for Ciliary Dyskinesia, Primary, 10

Publications for Ciliary Dyskinesia, Primary, 10

Variations for Ciliary Dyskinesia, Primary, 10

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

6
# 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; MGAT2 NM_018139.2(DNAAF2): c.2303A> G (p.Asp768Gly) single nucleotide variant Benign rs9989177 GRCh37 Chromosome 14, 50092471: 50092471
4 DNAAF2; MGAT2 NM_018139.2(DNAAF2): c.2303A> G (p.Asp768Gly) single nucleotide variant Benign rs9989177 GRCh38 Chromosome 14, 49625753: 49625753
5 DNAAF2 NM_018139.2(DNAAF2): c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs) duplication Pathogenic rs397515341 GRCh38 Chromosome 14, 49633936: 49633951
6 DNAAF2 NM_018139.2(DNAAF2): c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs) duplication Pathogenic rs397515341 GRCh37 Chromosome 14, 50100654: 50100669

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
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37 KEGG
38 LifeMap
40 LOVD
42 MedGen
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49 NCI
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55 Novoseek
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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