MCID: CLR104
MIFTS: 21

Ciliary Dyskinesia, Primary, 15

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 15

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 15:

Name: Ciliary Dyskinesia, Primary, 15 57 75 29 13 6 73
Cild15 57 12 75
Primary Ciliary Dyskinesia 15 with or Without Situs Inversus 12 75
Ciliary Dyskinesia, Primary, 15, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, Type 15 40
Primary Ciliary Dyskinesia 15 12
Immotile Cilia Syndrome 15 75
Ics15 75

Characteristics:

HPO:

32
ciliary dyskinesia, primary, 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613808
Disease Ontology 12 DOID:0110623
ICD10 33 Q34.8
MedGen 42 C3151137
MeSH 44 D007619
UMLS 73 C3151137

Summaries for Ciliary Dyskinesia, Primary, 15

UniProtKB/Swiss-Prot : 75 Ciliary dyskinesia, primary, 15: 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, 15, is also known as cild15. An important gene associated with Ciliary Dyskinesia, Primary, 15 is CCDC40 (Coiled-Coil Domain Containing 40). Related phenotypes are recurrent respiratory infections and sinusitis

OMIM : 57 Primary ciliary dyskinesia-15 is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (summary by Becker-Heck et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (613808)

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has material basis in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25.

Related Diseases for Ciliary Dyskinesia, Primary, 15

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 15

Clinical features from OMIM:

613808

Human phenotypes related to Ciliary Dyskinesia, Primary, 15:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 sinusitis 32 HP:0000246
3 recurrent otitis media 32 HP:0000403
4 infertility 32 HP:0000789
5 situs inversus totalis 32 very rare (1%) HP:0001696
6 bronchiectasis 32 HP:0002110
7 ciliary dyskinesia 32 HP:0012265
8 abnormal axonemal organization of respiratory motile cilia 32 HP:0012258

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 15

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 15

Genetic Tests for Ciliary Dyskinesia, Primary, 15

Genetic tests related to Ciliary Dyskinesia, Primary, 15:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 15 29 CCDC40

Anatomical Context for Ciliary Dyskinesia, Primary, 15

Publications for Ciliary Dyskinesia, Primary, 15

Variations for Ciliary Dyskinesia, Primary, 15

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 15:

6
(show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC40 NM_017950.3(CCDC40): c.248delC (p.Ala83Valfs) deletion Pathogenic rs397515393 GRCh37 Chromosome 17, 78013765: 78013765
2 CCDC40 NM_017950.3(CCDC40): c.248delC (p.Ala83Valfs) deletion Pathogenic rs397515393 GRCh38 Chromosome 17, 80039966: 80039966
3 CCDC40 NM_017950.3(CCDC40): c.1315C> T (p.Gln439Ter) single nucleotide variant Pathogenic rs387907091 GRCh37 Chromosome 17, 78032448: 78032448
4 CCDC40 NM_017950.3(CCDC40): c.1315C> T (p.Gln439Ter) single nucleotide variant Pathogenic rs387907091 GRCh38 Chromosome 17, 80058649: 80058649
5 CCDC40 NM_017950.3(CCDC40): c.1951C> T (p.Gln651Ter) single nucleotide variant Pathogenic rs387907092 GRCh37 Chromosome 17, 78055819: 78055819
6 CCDC40 NM_017950.3(CCDC40): c.1951C> T (p.Gln651Ter) single nucleotide variant Pathogenic rs387907092 GRCh38 Chromosome 17, 80082020: 80082020
7 CCDC40 NM_017950.3(CCDC40): c.1345C> T (p.Arg449Ter) single nucleotide variant Pathogenic rs387907093 GRCh37 Chromosome 17, 78032684: 78032684
8 CCDC40 NM_017950.3(CCDC40): c.1345C> T (p.Arg449Ter) single nucleotide variant Pathogenic rs387907093 GRCh38 Chromosome 17, 80058885: 80058885
9 CCDC40 NM_017950.3(CCDC40): c.2824_2825insTGT (p.Arg942delinsMetTrp) insertion Pathogenic rs587778819 GRCh37 Chromosome 17, 78063675: 78063676
10 CCDC40 NM_017950.3(CCDC40): c.2824_2825insTGT (p.Arg942delinsMetTrp) insertion Pathogenic rs587778819 GRCh38 Chromosome 17, 80089876: 80089877
11 CCDC40 NM_017950.3(CCDC40): c.207G> C (p.Val69=) single nucleotide variant Benign rs2289527 GRCh37 Chromosome 17, 78013724: 78013724
12 CCDC40 NM_017950.3(CCDC40): c.207G> C (p.Val69=) single nucleotide variant Benign rs2289527 GRCh38 Chromosome 17, 80039925: 80039925
13 CCDC40 NM_017950.3(CCDC40): c.1890T> G (p.Ala630=) single nucleotide variant Benign rs35578653 GRCh37 Chromosome 17, 78055758: 78055758
14 CCDC40 NM_017950.3(CCDC40): c.1890T> G (p.Ala630=) single nucleotide variant Benign rs35578653 GRCh38 Chromosome 17, 80081959: 80081959
15 CCDC40 NM_017950.3(CCDC40): c.676+13T> C single nucleotide variant Benign rs7212525 GRCh37 Chromosome 17, 78021214: 78021214
16 CCDC40 NM_017950.3(CCDC40): c.676+13T> C single nucleotide variant Benign rs7212525 GRCh38 Chromosome 17, 80047415: 80047415
17 CCDC40 NM_017950.3(CCDC40): c.1159+12C> T single nucleotide variant Benign/Likely benign rs2289533 GRCh37 Chromosome 17, 78024094: 78024094
18 CCDC40 NM_017950.3(CCDC40): c.1159+12C> T single nucleotide variant Benign/Likely benign rs2289533 GRCh38 Chromosome 17, 80050295: 80050295
19 CCDC40; GAA NM_017950.3(CCDC40): c.3210A> G (p.Thr1070=) single nucleotide variant Benign rs56407805 GRCh37 Chromosome 17, 78073355: 78073355
20 CCDC40; GAA NM_017950.3(CCDC40): c.3210A> G (p.Thr1070=) single nucleotide variant Benign rs56407805 GRCh38 Chromosome 17, 80099556: 80099556
21 CCDC40; GAA NM_017950.3(CCDC40): c.*15T> C single nucleotide variant Benign rs2304853 GRCh37 Chromosome 17, 78073589: 78073589
22 CCDC40; GAA NM_017950.3(CCDC40): c.*15T> C single nucleotide variant Benign rs2304853 GRCh38 Chromosome 17, 80099790: 80099790
23 CCDC40 NM_017950.3(CCDC40): c.677-4C> G single nucleotide variant Benign/Likely benign rs2289530 GRCh37 Chromosome 17, 78022378: 78022378
24 CCDC40 NM_017950.3(CCDC40): c.677-4C> G single nucleotide variant Benign/Likely benign rs2289530 GRCh38 Chromosome 17, 80048579: 80048579
25 CCDC40; GAA NM_017950.3(CCDC40): c.3030T> C (p.Asp1010=) single nucleotide variant Benign rs12952612 GRCh37 Chromosome 17, 78071052: 78071052
26 CCDC40; GAA NM_017950.3(CCDC40): c.3030T> C (p.Asp1010=) single nucleotide variant Benign rs12952612 GRCh38 Chromosome 17, 80097253: 80097253
27 CCDC40; GAA NM_017950.3(CCDC40): c.3417A> G (p.Pro1139=) single nucleotide variant Benign rs2304854 GRCh37 Chromosome 17, 78073562: 78073562
28 CCDC40; GAA NM_017950.3(CCDC40): c.3417A> G (p.Pro1139=) single nucleotide variant Benign rs2304854 GRCh38 Chromosome 17, 80099763: 80099763
29 CCDC40 NM_017950.3(CCDC40): c.2824_2825insCTGT (p.Arg942Thrfs) insertion Pathogenic rs587778819 GRCh37 Chromosome 17, 78063675: 78063676
30 CCDC40 NM_017950.3(CCDC40): c.2824_2825insCTGT (p.Arg942Thrfs) insertion Pathogenic rs587778819 GRCh38 Chromosome 17, 80089876: 80089877
31 CCDC40 NM_017950.3(CCDC40): c.3354C> A (p.Tyr1118Ter) single nucleotide variant Pathogenic/Likely pathogenic rs374909386 GRCh37 Chromosome 17, 78073499: 78073499
32 CCDC40 NM_017950.3(CCDC40): c.3354C> A (p.Tyr1118Ter) single nucleotide variant Pathogenic/Likely pathogenic rs374909386 GRCh38 Chromosome 17, 80099700: 80099700
33 CCDC40 NM_017950.3(CCDC40): c.1440+1G> C single nucleotide variant Pathogenic rs886042621 GRCh37 Chromosome 17, 78032780: 78032780
34 CCDC40 NM_017950.3(CCDC40): c.1440+1G> C single nucleotide variant Pathogenic rs886042621 GRCh38 Chromosome 17, 80058981: 80058981

Expression for Ciliary Dyskinesia, Primary, 15

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 15.

Pathways for Ciliary Dyskinesia, Primary, 15

GO Terms for Ciliary Dyskinesia, Primary, 15

Sources for Ciliary Dyskinesia, Primary, 15

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