CILD15
MCID: CLR104
MIFTS: 22

Ciliary Dyskinesia, Primary, 15 (CILD15)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 15

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 15:

Name: Ciliary Dyskinesia, Primary, 15 58 76 30 13 6 74
Cild15 58 12 76
Primary Ciliary Dyskinesia 15 with or Without Situs Inversus 12 76
Ciliary Dyskinesia, Primary, 15, with or Without Situs Inversus 58
Dyskinesia, Ciliary, Primary, Type 15 41
Primary Ciliary Dyskinesia 15 12
Immotile Cilia Syndrome 15 76
Ics15 76

Characteristics:

HPO:

33
ciliary dyskinesia, primary, 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110623
OMIM 58 613808
MeSH 45 D007619
ICD10 34 Q34.8
MedGen 43 C3151137
UMLS 74 C3151137

Summaries for Ciliary Dyskinesia, Primary, 15

UniProtKB/Swiss-Prot : 76 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 situs inversus totalis and recurrent respiratory infections

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.

OMIM : 58 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)

Related Diseases for Ciliary Dyskinesia, Primary, 15

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 15

Human phenotypes related to Ciliary Dyskinesia, Primary, 15:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 33 very rare (1%) HP:0001696
2 recurrent respiratory infections 33 HP:0002205
3 sinusitis 33 HP:0000246
4 recurrent otitis media 33 HP:0000403
5 infertility 33 HP:0000789
6 bronchiectasis 33 HP:0002110
7 ciliary dyskinesia 33 HP:0012265
8 abnormal axonemal organization of respiratory motile cilia 33 HP:0012258

Clinical features from OMIM:

613808

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 30 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 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC40 NM_017950.3(CCDC40): c.207G> C (p.Val69=) single nucleotide variant Benign rs2289527 GRCh38 Chromosome 17, 80039925: 80039925
2 CCDC40 NM_017950.3(CCDC40): c.207G> C (p.Val69=) single nucleotide variant Benign rs2289527 GRCh37 Chromosome 17, 78013724: 78013724
3 CCDC40 NM_017950.3(CCDC40): c.676+13T> C single nucleotide variant Benign rs7212525 GRCh38 Chromosome 17, 80047415: 80047415
4 CCDC40 NM_017950.3(CCDC40): c.676+13T> C single nucleotide variant Benign rs7212525 GRCh37 Chromosome 17, 78021214: 78021214
5 CCDC40 NM_017950.3(CCDC40): c.1159+12C> T single nucleotide variant Benign/Likely benign rs2289533 GRCh37 Chromosome 17, 78024094: 78024094
6 CCDC40 NM_017950.3(CCDC40): c.1159+12C> T single nucleotide variant Benign/Likely benign rs2289533 GRCh38 Chromosome 17, 80050295: 80050295
7 CCDC40 NM_017950.3(CCDC40): c.1890T> G (p.Ala630=) single nucleotide variant Benign rs35578653 GRCh37 Chromosome 17, 78055758: 78055758
8 CCDC40 NM_017950.3(CCDC40): c.1890T> G (p.Ala630=) single nucleotide variant Benign rs35578653 GRCh38 Chromosome 17, 80081959: 80081959
9 CCDC40; GAA NM_017950.3(CCDC40): c.3210A> G (p.Thr1070=) single nucleotide variant Benign rs56407805 GRCh37 Chromosome 17, 78073355: 78073355
10 CCDC40; GAA NM_017950.3(CCDC40): c.3210A> G (p.Thr1070=) single nucleotide variant Benign rs56407805 GRCh38 Chromosome 17, 80099556: 80099556
11 CCDC40; GAA NM_017950.3(CCDC40): c.*15T> C single nucleotide variant Benign rs2304853 GRCh37 Chromosome 17, 78073589: 78073589
12 CCDC40; GAA NM_017950.3(CCDC40): c.*15T> C single nucleotide variant Benign rs2304853 GRCh38 Chromosome 17, 80099790: 80099790
13 CCDC40 NM_017950.3(CCDC40): c.677-4C> G single nucleotide variant Benign/Likely benign rs2289530 GRCh37 Chromosome 17, 78022378: 78022378
14 CCDC40 NM_017950.3(CCDC40): c.677-4C> G single nucleotide variant Benign/Likely benign rs2289530 GRCh38 Chromosome 17, 80048579: 80048579
15 CCDC40; GAA NM_017950.3(CCDC40): c.3030T> C (p.Asp1010=) single nucleotide variant Benign rs12952612 GRCh38 Chromosome 17, 80097253: 80097253
16 CCDC40; GAA NM_017950.3(CCDC40): c.3030T> C (p.Asp1010=) single nucleotide variant Benign rs12952612 GRCh37 Chromosome 17, 78071052: 78071052
17 CCDC40; GAA NM_017950.3(CCDC40): c.3417A> G (p.Pro1139=) single nucleotide variant Benign rs2304854 GRCh38 Chromosome 17, 80099763: 80099763
18 CCDC40; GAA NM_017950.3(CCDC40): c.3417A> G (p.Pro1139=) single nucleotide variant Benign rs2304854 GRCh37 Chromosome 17, 78073562: 78073562
19 CCDC40 NM_017950.3(CCDC40): c.248delC (p.Ala83Valfs) deletion Pathogenic rs397515393 GRCh37 Chromosome 17, 78013765: 78013765
20 CCDC40 NM_017950.3(CCDC40): c.248delC (p.Ala83Valfs) deletion Pathogenic rs397515393 GRCh38 Chromosome 17, 80039966: 80039966
21 CCDC40 NM_017950.3(CCDC40): c.1315C> T (p.Gln439Ter) single nucleotide variant Pathogenic rs387907091 GRCh37 Chromosome 17, 78032448: 78032448
22 CCDC40 NM_017950.3(CCDC40): c.1315C> T (p.Gln439Ter) single nucleotide variant Pathogenic rs387907091 GRCh38 Chromosome 17, 80058649: 80058649
23 CCDC40 NM_017950.3(CCDC40): c.1951C> T (p.Gln651Ter) single nucleotide variant Pathogenic rs387907092 GRCh37 Chromosome 17, 78055819: 78055819
24 CCDC40 NM_017950.3(CCDC40): c.1951C> T (p.Gln651Ter) single nucleotide variant Pathogenic rs387907092 GRCh38 Chromosome 17, 80082020: 80082020
25 CCDC40 NM_017950.3(CCDC40): c.1345C> T (p.Arg449Ter) single nucleotide variant Pathogenic rs387907093 GRCh37 Chromosome 17, 78032684: 78032684
26 CCDC40 NM_017950.3(CCDC40): c.1345C> T (p.Arg449Ter) single nucleotide variant Pathogenic rs387907093 GRCh38 Chromosome 17, 80058885: 80058885
27 CCDC40 NM_017950.3(CCDC40): c.2824_2825insTGT (p.Arg942delinsMetTrp) insertion Pathogenic rs587778819 GRCh37 Chromosome 17, 78063675: 78063676
28 CCDC40 NM_017950.3(CCDC40): c.2824_2825insTGT (p.Arg942delinsMetTrp) insertion Pathogenic rs587778819 GRCh38 Chromosome 17, 80089876: 80089877
29 CCDC40 NM_017950.3(CCDC40): c.2620-92C> T single nucleotide variant Uncertain significance rs569842522 GRCh38 Chromosome 17, 80087919: 80087919
30 CCDC40 NM_017950.3(CCDC40): c.2620-92C> T single nucleotide variant Uncertain significance rs569842522 GRCh37 Chromosome 17, 78061718: 78061718

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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