CILD15
MCID: CLR104
MIFTS: 29

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 57 72 29 13 6 70
Cild15 57 12 72
Primary Ciliary Dyskinesia 15 with or Without Situs Inversus 12 72
Ciliary Dyskinesia, Primary, 15, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, Type 15 39
Primary Ciliary Dyskinesia 15 12
Immotile Cilia Syndrome 15 72
Ics15 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110623
OMIM® 57 613808
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
MedGen 41 C3151137
UMLS 70 C3151137

Summaries for Ciliary Dyskinesia, Primary, 15

UniProtKB/Swiss-Prot : 72 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). Affiliated tissues include heart, and 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® : 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) (Updated 05-Apr-2021)

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, Primary, 44
Ciliary Dyskinesia, Primary, 45 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 9.6 GAA CCDC40
2 primary ciliary dyskinesia 9.5 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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory Lung:
bronchiectasis

Head And Neck Head:
chronic sinusitis

Cardiovascular Heart:
dextrocardia (in some patients)

Respiratory:
recurrent respiratory infections due to defective ciliary clearance

Laboratory Abnormalities:
complete or partial loss of inner dynein arms of cilia
normal outer dynein arms
misarrangement of the microtubular doublets
defect in cilia motility

Head And Neck Nose:
chronic rhinitis

Genitourinary:
infertility (in some patients)

Head And Neck Ears:
chronic otitis

Abdomen:
situs inversus (in some patient)

Clinical features from OMIM®:

613808 (Updated 05-Apr-2021)

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

MalaCards organs/tissues related to Ciliary Dyskinesia, Primary, 15:

40
Heart

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. 6 57
23255504 2013
2
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 6 57
21131974 2011
3
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 6
22693285 2012
4
High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. 6
22499950 2012
5
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. 57
21131972 2011

Variations for Ciliary Dyskinesia, Primary, 15

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

6 (show top 50) (show all 158)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCDC40 NM_017950.4(CCDC40):c.1315C>T (p.Gln439Ter) SNV Pathogenic 31070 rs387907091 GRCh37: 17:78032448-78032448
GRCh38: 17:80058649-80058649
2 CCDC40 NM_017950.4(CCDC40):c.248del (p.Ala83fs) Deletion Pathogenic 31069 rs397515393 GRCh37: 17:78013765-78013765
GRCh38: 17:80039966-80039966
3 CCDC40 NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter) SNV Pathogenic 31071 rs387907092 GRCh37: 17:78055819-78055819
GRCh38: 17:80082020-80082020
4 CCDC40 NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter) SNV Pathogenic 31072 rs387907093 GRCh37: 17:78032684-78032684
GRCh38: 17:80058885-80058885
5 CCDC40 NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) SNV Pathogenic 216118 rs754867753 GRCh37: 17:78023884-78023884
GRCh38: 17:80050085-80050085
6 CCDC40 NM_017950.4(CCDC40):c.3004dup (p.Ile1002fs) Duplication Pathogenic 661903 rs1278589861 GRCh37: 17:78069229-78069230
GRCh38: 17:80095430-80095431
7 CCDC40 NM_017950.4(CCDC40):c.2824_2825insTGT (p.Arg942delinsMetTrp) Insertion Pathogenic 65930 rs587778819 GRCh37: 17:78063675-78063676
GRCh38: 17:80089876-80089877
8 CCDC40 NM_017950.4(CCDC40):c.2832+360C>T SNV Likely pathogenic 993036 GRCh37: 17:78064043-78064043
GRCh38: 17:80090244-80090244
9 CCDC40 NM_017950.4(CCDC40):c.298del (p.Thr100fs) Deletion Likely pathogenic 931392 GRCh37: 17:78013813-78013813
GRCh38: 17:80040014-80040014
10 CCDC40 NM_017950.4(CCDC40):c.2832+297G>T SNV Likely pathogenic 931708 GRCh37: 17:78063980-78063980
GRCh38: 17:80090181-80090181
11 CCDC40 NM_017950.4(CCDC40):c.2832+395dup Duplication Likely pathogenic 931828 GRCh37: 17:78064076-78064077
GRCh38: 17:80090277-80090278
12 CCDC40 NM_017950.4(CCDC40):c.2712-1G>T SNV Likely pathogenic 407769 rs370706991 GRCh37: 17:78063562-78063562
GRCh38: 17:80089763-80089763
13 CCDC40 NM_017950.4(CCDC40):c.257A>G (p.Tyr86Cys) SNV Uncertain significance 325722 rs202220442 GRCh37: 17:78013774-78013774
GRCh38: 17:80039975-80039975
14 CCDC40 NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn) SNV Uncertain significance 215897 rs115850223 GRCh37: 17:78058569-78058569
GRCh38: 17:80084770-80084770
15 CCDC40 NM_017950.4(CCDC40):c.2226C>T (p.Ser742=) SNV Uncertain significance 215898 rs72849355 GRCh37: 17:78058778-78058778
GRCh38: 17:80084979-80084979
16 CCDC40 NM_017950.4(CCDC40):c.2387C>G (p.Ala796Gly) SNV Uncertain significance 325742 rs139435501 GRCh37: 17:78059953-78059953
GRCh38: 17:80086154-80086154
17 CCDC40 NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) SNV Uncertain significance 260970 rs117307093 GRCh37: 17:78071068-78071068
GRCh38: 17:80097269-80097269
18 CCDC40 NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His) SNV Uncertain significance 325748 rs773033304 GRCh37: 17:78073390-78073390
GRCh38: 17:80099591-80099591
19 CCDC40 NM_017950.4(CCDC40):c.2332C>T (p.Leu778=) SNV Uncertain significance 260959 rs202075842 GRCh37: 17:78059898-78059898
GRCh38: 17:80086099-80086099
20 CCDC40 NM_017950.4(CCDC40):c.1468G>A (p.Val490Met) SNV Uncertain significance 325731 rs200902099 GRCh37: 17:78039311-78039311
GRCh38: 17:80065512-80065512
21 CCDC40 NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg) SNV Uncertain significance 325734 rs200815406 GRCh37: 17:78055521-78055521
GRCh38: 17:80081722-80081722
22 CCDC40 NM_017950.4(CCDC40):c.662T>C (p.Val221Ala) SNV Uncertain significance 216700 rs760951742 GRCh37: 17:78021187-78021187
GRCh38: 17:80047388-80047388
23 CCDC40 NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter) SNV Uncertain significance 574268 rs371595543 GRCh37: 17:78032445-78032445
GRCh38: 17:80058646-80058646
24 CCDC40 NM_017950.4(CCDC40):c.2620-92C>T SNV Uncertain significance 140603 rs569842522 GRCh37: 17:78061718-78061718
GRCh38: 17:80087919-80087919
25 CCDC40 NM_017950.4(CCDC40):c.2832+306G>T SNV Uncertain significance 931141 GRCh37: 17:78063989-78063989
GRCh38: 17:80090190-80090190
26 CCDC40 NM_017950.4(CCDC40):c.1807G>A (p.Glu603Lys) SNV Uncertain significance 931391 GRCh37: 17:78055675-78055675
GRCh38: 17:80081876-80081876
27 CCDC40 NM_017950.4(CCDC40):c.2293G>A (p.Glu765Lys) SNV Uncertain significance 325741 rs199850214 GRCh37: 17:78059859-78059859
GRCh38: 17:80086060-80086060
28 CCDC40 NM_017950.4(CCDC40):c.1897C>T (p.Arg633Trp) SNV Uncertain significance 325737 rs200551690 GRCh37: 17:78055765-78055765
GRCh38: 17:80081966-80081966
29 CCDC40 NM_017950.4(CCDC40):c.3284dup (p.Glu1096fs) Duplication Uncertain significance 632291 rs1567819753 GRCh37: 17:78073428-78073429
GRCh38: 17:80099629-80099630
30 CCDC40 NM_017950.4(CCDC40):c.*17C>T SNV Uncertain significance 260944 rs202179507 GRCh37: 17:78073591-78073591
GRCh38: 17:80099792-80099792
31 CCDC40 NM_017950.4(CCDC40):c.1806+15G>A SNV Uncertain significance 325735 rs767093580 GRCh37: 17:78055603-78055603
GRCh38: 17:80081804-80081804
32 CCDC40 NM_017950.4(CCDC40):c.1896C>T (p.Ile632=) SNV Uncertain significance 325736 rs886053534 GRCh37: 17:78055764-78055764
GRCh38: 17:80081965-80081965
33 CCDC40 NM_017950.4(CCDC40):c.1526G>A (p.Arg509His) SNV Uncertain significance 325732 rs757879326 GRCh37: 17:78039369-78039369
GRCh38: 17:80065570-80065570
34 CCDC40 NM_017950.4(CCDC40):c.*202T>C SNV Uncertain significance 325756 rs539904864 GRCh37: 17:78073776-78073776
GRCh38: 17:80099977-80099977
35 CCDC40 NM_017950.4(CCDC40):c.*342G>A SNV Uncertain significance 325759 rs886053537 GRCh37: 17:78073916-78073916
GRCh38: 17:80100117-80100117
36 CCDC40 NM_017950.4(CCDC40):c.*415G>A SNV Uncertain significance 325762 rs886053539 GRCh37: 17:78073989-78073989
GRCh38: 17:80100190-80100190
37 CCDC40 NM_017950.4(CCDC40):c.2236-15G>A SNV Uncertain significance 325740 rs148674510 GRCh37: 17:78059787-78059787
GRCh38: 17:80085988-80085988
38 CCDC40 NM_017950.4(CCDC40):c.1544C>T (p.Ala515Val) SNV Uncertain significance 325733 rs774455448 GRCh37: 17:78039387-78039387
GRCh38: 17:80065588-80065588
39 CCDC40 NM_017950.4(CCDC40):c.*18G>A SNV Uncertain significance 325751 rs746718107 GRCh37: 17:78073592-78073592
GRCh38: 17:80099793-80099793
40 CCDC40 NM_017950.4(CCDC40):c.1440+15C>T SNV Uncertain significance 325729 rs779133902 GRCh37: 17:78032794-78032794
GRCh38: 17:80058995-80058995
41 CCDC40 NM_017950.4(CCDC40):c.506C>T (p.Ser169Leu) SNV Uncertain significance 325724 rs369066468 GRCh37: 17:78014023-78014023
GRCh38: 17:80040224-80040224
42 CCDC40 NM_017950.4(CCDC40):c.*347C>T SNV Uncertain significance 325760 rs886053538 GRCh37: 17:78073921-78073921
GRCh38: 17:80100122-80100122
43 CCDC40 NM_017950.4(CCDC40):c.2832+4A>T SNV Uncertain significance 325744 rs756602466 GRCh37: 17:78063687-78063687
GRCh38: 17:80089888-80089888
44 CCDC40 NM_017950.4(CCDC40):c.2926G>C (p.Glu976Gln) SNV Uncertain significance 325746 rs761440789 GRCh37: 17:78069155-78069155
GRCh38: 17:80095356-80095356
45 CCDC40 NM_017950.4(CCDC40):c.*190A>G SNV Uncertain significance 325754 rs886053535 GRCh37: 17:78073764-78073764
GRCh38: 17:80099965-80099965
46 CCDC40 NM_017950.4(CCDC40):c.1221C>T (p.Ile407=) SNV Uncertain significance 325728 rs760734578 GRCh37: 17:78032354-78032354
GRCh38: 17:80058555-80058555
47 CCDC40 NM_017950.4(CCDC40):c.3338G>T (p.Arg1113Leu) SNV Uncertain significance 325749 rs368814379 GRCh37: 17:78073483-78073483
GRCh38: 17:80099684-80099684
48 CCDC40 NM_017950.4(CCDC40):c.*663C>T SNV Uncertain significance 325766 rs886053540 GRCh37: 17:78074237-78074237
GRCh38: 17:80100438-80100438
49 CCDC40 NM_017950.4(CCDC40):c.388G>A (p.Asp130Asn) SNV Uncertain significance 325723 rs758879011 GRCh37: 17:78013905-78013905
GRCh38: 17:80040106-80040106
50 CCDC40 NM_017950.4(CCDC40):c.*199G>A SNV Uncertain significance 325755 rs886053536 GRCh37: 17:78073773-78073773
GRCh38: 17:80099974-80099974

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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