CILD15
MCID: CLR104
MIFTS: 26

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 56 73 29 13 6 71
Cild15 56 12 73
Primary Ciliary Dyskinesia 15 with or Without Situs Inversus 12 73
Ciliary Dyskinesia, Primary, 15, with or Without Situs Inversus 56
Dyskinesia, Ciliary, Primary, Type 15 39
Primary Ciliary Dyskinesia 15 12
Immotile Cilia Syndrome 15 73
Ics15 73

Characteristics:

HPO:

31
ciliary dyskinesia, primary, 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110623
OMIM 56 613808
OMIM Phenotypic Series 56 PS244400
MeSH 43 D007619
ICD10 32 Q34.8
MedGen 41 C3151137
UMLS 71 C3151137

Summaries for Ciliary Dyskinesia, Primary, 15

UniProtKB/Swiss-Prot : 73 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, also known as cild15, is related to glycogen storage disease and primary ciliary dyskinesia. 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 : 56 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

Diseases in the Primary Ciliary Dyskinesia family:

Ciliary Dyskinesia, Primary, 1 Ciliary Dyskinesia, Primary, 2
Ciliary Dyskinesia, Primary, 3 Ciliary Dyskinesia, Primary, 4
Ciliary Dyskinesia, Primary, 5 Ciliary Dyskinesia, Primary, 6
Ciliary Dyskinesia, Primary, 7 Ciliary Dyskinesia, Primary, 8
Ciliary Dyskinesia, Primary, 9 Ciliary Dyskinesia, Primary, 10
Ciliary Dyskinesia, Primary, 11 Ciliary Dyskinesia, Primary, 12
Ciliary Dyskinesia, Primary, 13 Ciliary Dyskinesia, Primary, 14
Ciliary Dyskinesia, Primary, 15 Ciliary Dyskinesia, Primary, 16
Ciliary Dyskinesia, Primary, 17 Ciliary Dyskinesia, Primary, 18
Ciliary Dyskinesia, Primary, 19 Ciliary Dyskinesia, Primary, 20
Ciliary Dyskinesia, Primary, 21 Ciliary Dyskinesia, Primary, 22
Ciliary Dyskinesia, Primary, 23 Ciliary Dyskinesia, Primary, 24
Ciliary Dyskinesia, Primary, 25 Ciliary Dyskinesia, Primary, 26
Ciliary Dyskinesia, Primary, 27 Ciliary Dyskinesia, Primary, 28
Ciliary Dyskinesia, Primary, 29 Ciliary Dyskinesia, Primary, 30
Ciliary Dyskinesia, Primary, 32 Ciliary Dyskinesia, Primary, 33
Ciliary Dyskinesia, Primary, 34 Ciliary Dyskinesia, Primary, 35
Ciliary Dyskinesia, Primary, 37 Ciliary Dyskinesia, Primary, 38
Ciliary Dyskinesia, Primary, 39 Ciliary Dyskinesia, Primary, 40
Ciliary Dyskinesia, Primary, 41 Ciliary Dyskinesia, Primary, 42
Ciliary Dyskinesia, Primary, 43 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules

Diseases related to Ciliary Dyskinesia, Primary, 15 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glycogen storage disease 9.4 GAA CCDC40
2 primary ciliary dyskinesia 9.2 GAA CCDC40

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 15

Human phenotypes related to Ciliary Dyskinesia, Primary, 15:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 31 very rare (1%) HP:0001696
2 recurrent respiratory infections 31 HP:0002205
3 sinusitis 31 HP:0000246
4 recurrent otitis media 31 HP:0000403
5 infertility 31 HP:0000789
6 bronchiectasis 31 HP:0002110
7 ciliary dyskinesia 31 HP:0012265
8 abnormal axonemal organization of respiratory motile cilia 31 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 29 CCDC40

Anatomical Context for Ciliary Dyskinesia, Primary, 15

Publications for Ciliary Dyskinesia, Primary, 15

Articles related to Ciliary Dyskinesia, Primary, 15:

# Title Authors PMID Year
1
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 56 6
23255504 2013
2
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 56 6
21131974 2011
3
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
4
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. 56
21131972 2011
5
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
6
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
7
Primary Ciliary Dyskinesia 6
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 15

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

6 (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCDC40 NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter)SNV Pathogenic 216118 rs754867753 17:78023884-78023884 17:80050085-80050085
2 CCDC40 NM_017950.4(CCDC40):c.248del (p.Ala83fs)deletion Pathogenic 31069 rs397515393 17:78013765-78013765 17:80039966-80039966
3 CCDC40 NM_017950.4(CCDC40):c.1315C>T (p.Gln439Ter)SNV Pathogenic 31070 rs387907091 17:78032448-78032448 17:80058649-80058649
4 CCDC40 NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter)SNV Pathogenic 31071 rs387907092 17:78055819-78055819 17:80082020-80082020
5 CCDC40 NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter)SNV Pathogenic 31072 rs387907093 17:78032684-78032684 17:80058885-80058885
6 CCDC40 NM_017950.4(CCDC40):c.2824_2825insTGT (p.Arg942delinsMetTrp)insertion Pathogenic 65930 rs587778819 17:78063675-78063676 17:80089876-80089877
7 CCDC40 NM_017950.4(CCDC40):c.2712-1G>TSNV Pathogenic/Likely pathogenic 407769 rs370706991 17:78063562-78063562 17:80089763-80089763
8 CCDC40 NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter)SNV Conflicting interpretations of pathogenicity 574268 rs371595543 17:78032445-78032445 17:80058646-80058646
9 CCDC40 NM_017950.4(CCDC40):c.3284dup (p.Glu1096fs)duplication Uncertain significance 632291 rs1567819753 17:78073428-78073429 17:80099629-80099630
10 CCDC40 NM_017950.4(CCDC40):c.2620-92C>TSNV Uncertain significance 140603 rs569842522 17:78061718-78061718 17:80087919-80087919
11 CCDC40 NM_017950.4(CCDC40):c.662T>C (p.Val221Ala)SNV Uncertain significance 216700 rs760951742 17:78021187-78021187 17:80047388-80047388
12 CCDC40 NM_017950.4(CCDC40):c.2832+332_2832+395deldeletion Likely benign 803468 17:78064001-78064064 17:80090202-80090265
13 CCDC40 NM_017950.4(CCDC40):c.1159+12C>TSNV Benign/Likely benign 162847 rs2289533 17:78024094-78024094 17:80050295-80050295
14 CCDC40 NM_017950.4(CCDC40):c.677-4C>GSNV Benign/Likely benign 162846 rs2289530 17:78022378-78022378 17:80048579-80048579
15 CCDC40 , GAA NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=)SNV Benign 178711 rs12952612 17:78071052-78071052 17:80097253-80097253
16 CCDC40 , GAA NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=)SNV Benign 178712 rs2304854 17:78073562-78073562 17:80099763-80099763
17 CCDC40 NM_017950.4(CCDC40):c.207G>C (p.Val69=)SNV Benign 166807 rs2289527 17:78013724-78013724 17:80039925-80039925
18 CCDC40 NM_017950.4(CCDC40):c.676+13T>CSNV Benign 178707 rs7212525 17:78021214-78021214 17:80047415-80047415
19 CCDC40 NM_017950.4(CCDC40):c.1890T>G (p.Ala630=)SNV Benign 162850 rs35578653 17:78055758-78055758 17:80081959-80081959
20 CCDC40 , GAA NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=)SNV Benign 162852 rs56407805 17:78073355-78073355 17:80099556-80099556
21 CCDC40 , GAA NM_017950.4(CCDC40):c.*15T>CSNV Benign 162853 rs2304853 17:78073589-78073589 17:80099790-80099790

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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