CILD30
MCID: CLR114
MIFTS: 26

Ciliary Dyskinesia, Primary, 30 (CILD30)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 30

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 30:

Name: Ciliary Dyskinesia, Primary, 30 56 73 29 6 71
Cild30 56 12 73
Ciliary Dyskinesia, Primary, 30, with or Without Situs Inversus 56
Primary Ciliary Dyskinesia 30 with or Without Situs Inversus 73
Primary Ciliary Dyskinesia 30 Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, Type 30 39
Primary Ciliary Dyskinesia 30 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy


HPO:

31
ciliary dyskinesia, primary, 30:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 30

UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 30: 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. Patients may 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, 30, is also known as cild30, and has symptoms including coughing An important gene associated with Ciliary Dyskinesia, Primary, 30 is CCDC151 (Coiled-Coil Domain Containing 151). Related phenotypes are recurrent respiratory infections and cough

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has material basis in homozygous mutation in the CCDC151 gene on chromosome 19p13.

More information from OMIM: 616037 PS244400

Related Diseases for Ciliary Dyskinesia, Primary, 30

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 30

Human phenotypes related to Ciliary Dyskinesia, Primary, 30:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 cough 31 HP:0012735
3 recurrent otitis media 31 HP:0000403
4 asthma 31 HP:0002099
5 nasal polyposis 31 HP:0100582
6 situs inversus totalis 31 HP:0001696
7 bronchiectasis 31 HP:0002110
8 chronic bronchitis 31 HP:0004469
9 nasal obstruction 31 HP:0001742
10 ciliary dyskinesia 31 HP:0012265
11 respiratory insufficiency due to defective ciliary clearance 31 HP:0200073
12 absent outer dynein arms 31 HP:0012256

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
cough
asthma
respiratory insufficiency due to defective ciliary clearance
respiratory infections, recurrent
respiratory insufficiency, neonatal

Head And Neck Nose:
nasal polyps
nasal blockage

Laboratory Abnormalities:
decreased nasal nitric oxide
lack of ciliary motility
electron microscopy of patient respiratory cells shows absent outer dynein arms in the axoneme

Abdomen:
situs inversus (in about 50% of patients)

Respiratory Airways:
chronic bronchitis

Head And Neck Ears:
otitis media, recurrent

Cardiovascular Heart:
dextrocardia (in some patients)

Clinical features from OMIM:

616037

UMLS symptoms related to Ciliary Dyskinesia, Primary, 30:


coughing

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 30

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 30

Genetic Tests for Ciliary Dyskinesia, Primary, 30

Genetic tests related to Ciliary Dyskinesia, Primary, 30:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 30 29 CCDC151

Anatomical Context for Ciliary Dyskinesia, Primary, 30

Publications for Ciliary Dyskinesia, Primary, 30

Articles related to Ciliary Dyskinesia, Primary, 30:

# Title Authors PMID Year
1
Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia. 56 6
25224326 2014
2
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. 56 6
25192045 2014
3
The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals. 56
24067530 2014
4
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
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, 30

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 30:

6 (show top 50) (show all 55) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCDC151 NM_145045.5(CCDC151):c.925G>T (p.Glu309Ter)SNV Pathogenic 156365 rs587777779 19:11537002-11537002 19:11426182-11426182
2 CCDC151 NM_145045.5(CCDC151):c.1256C>A (p.Ser419Ter)SNV Pathogenic 156366 rs587777780 19:11533390-11533390 19:11422722-11422722
3 CCDC151 NM_145045.5(CCDC151):c.267dup (p.Glu90Ter)duplication Pathogenic 477980 rs1555723797 19:11541818-11541818 19:11430998-11430998
4 CCDC151 NM_145045.5(CCDC151):c.583_595dup (p.His199fs)duplication Pathogenic 570784 rs750658321 19:11537710-11537722 19:11426890-11426902
5 CCDC151 NM_145045.5(CCDC151):c.487C>T (p.Gln163Ter)SNV Pathogenic 647259 19:11537818-11537818 19:11426998-11426998
6 CCDC151 NM_145045.5(CCDC151):c.1117-1G>CSNV Likely pathogenic 647642 19:11533530-11533530 19:11422862-11422862
7 CCDC151 NM_145045.5(CCDC151):c.964-1G>ASNV Likely pathogenic 570121 rs1480671731 19:11534699-11534699 19:11424030-11424030
8 CCDC151 NM_145045.5(CCDC151):c.367-1G>CSNV Likely pathogenic 477982 rs1186608353 19:11541597-11541597 19:11430777-11430777
9 CCDC151 NM_145045.5(CCDC151):c.576G>T (p.Met192Ile)SNV Uncertain significance 477985 rs201977207 19:11537729-11537729 19:11426909-11426909
10 CCDC151 NM_145045.5(CCDC151):c.526A>G (p.Arg176Gly)SNV Uncertain significance 477984 rs143287033 19:11537779-11537779 19:11426959-11426959
11 CCDC151 NM_145045.5(CCDC151):c.1490C>G (p.Pro497Arg)SNV Uncertain significance 544215 rs1340885760 19:11532445-11532445 19:11421777-11421777
12 CCDC151 NM_145045.5(CCDC151):c.767_787del (p.Val256_Leu262del)deletion Uncertain significance 406813 rs1064792932 19:11537319-11537339 19:11426499-11426519
13 CCDC151 NM_145045.5(CCDC151):c.184G>T (p.Ala62Ser)SNV Uncertain significance 406820 rs996181868 19:11545654-11545654 19:11434833-11434833
14 CCDC151 NM_145045.5(CCDC151):c.8C>G (p.Ser3Cys)SNV Uncertain significance 406814 rs756389981 19:11545830-11545830 19:11435009-11435009
15 CCDC151 NM_145045.5(CCDC151):c.1035G>C (p.Glu345Asp)SNV Uncertain significance 406819 rs1053136709 19:11534627-11534627 19:11423958-11423958
16 CCDC151 NM_145045.5(CCDC151):c.907G>A (p.Glu303Lys)SNV Uncertain significance 406816 rs1060501319 19:11537020-11537020 19:11426200-11426200
17 CCDC151 NM_145045.5(CCDC151):c.707A>G (p.Tyr236Cys)SNV Uncertain significance 477986 rs200305902 19:11537510-11537510 19:11426690-11426690
18 CCDC151 NM_145045.5(CCDC151):c.481G>A (p.Val161Met)SNV Uncertain significance 477983 rs1555723194 19:11537824-11537824 19:11427004-11427004
19 CCDC151 NM_145045.5(CCDC151):c.914A>G (p.Lys305Arg)SNV Uncertain significance 228474 rs762033637 19:11537013-11537013 19:11426193-11426193
20 CCDC151 NM_145045.5(CCDC151):c.901A>G (p.Ile301Val)SNV Uncertain significance 241947 rs750661034 19:11537026-11537026 19:11426206-11426206
21 CCDC151 NM_145045.5(CCDC151):c.52G>A (p.Asp18Asn)SNV Uncertain significance 406817 rs578106295 19:11545786-11545786 19:11434965-11434965
22 CCDC151 NM_145045.5(CCDC151):c.1316A>G (p.Lys439Arg)SNV Uncertain significance 406818 rs1060501320 19:11533257-11533257 19:11422589-11422589
23 CCDC151 NM_145045.5(CCDC151):c.922G>A (p.Ala308Thr)SNV Uncertain significance 406815 rs201899388 19:11537005-11537005 19:11426185-11426185
24 CCDC151 NM_145045.5(CCDC151):c.711_713dup (p.Met238_Asp239insIle)duplication Uncertain significance 406790 rs1060501309 19:11537504-11537506 19:11426684-11426686
25 CCDC151 NM_145045.5(CCDC151):c.1606G>A (p.Glu536Lys)SNV Uncertain significance 566365 19:11531865-11531865 19:11421197-11421197
26 CCDC151 NM_145045.5(CCDC151):c.245A>G (p.Glu82Gly)SNV Uncertain significance 544214 rs1318880960 19:11541840-11541840 19:11431020-11431020
27 CCDC151 NM_145045.5(CCDC151):c.208C>G (p.Gln70Glu)SNV Uncertain significance 544213 rs892807467 19:11545630-11545630 19:11434809-11434809
28 CCDC151 NM_145045.5(CCDC151):c.1111A>G (p.Thr371Ala)SNV Uncertain significance 582033 19:11534551-11534551 19:11423882-11423882
29 CCDC151 NM_145045.5(CCDC151):c.1645C>A (p.Pro549Thr)SNV Uncertain significance 653643 19:11531826-11531826 19:11421158-11421158
30 CCDC151 NM_145045.5(CCDC151):c.1463T>C (p.Leu488Pro)SNV Uncertain significance 660391 19:11532472-11532472 19:11421804-11421804
31 CCDC151 NM_145045.5(CCDC151):c.1361G>A (p.Arg454His)SNV Uncertain significance 644900 19:11533212-11533212 19:11422544-11422544
32 CCDC151 NM_145045.5(CCDC151):c.919C>G (p.Arg307Gly)SNV Uncertain significance 662085 19:11537008-11537008 19:11426188-11426188
33 CCDC151 NM_145045.5(CCDC151):c.809A>G (p.Gln270Arg)SNV Uncertain significance 664574 19:11537297-11537297 19:11426477-11426477
34 CCDC151 NM_145045.5(CCDC151):c.659C>T (p.Ala220Val)SNV Uncertain significance 660537 19:11537558-11537558 19:11426738-11426738
35 CCDC151 NM_145045.5(CCDC151):c.368G>A (p.Gly123Glu)SNV Uncertain significance 644395 19:11541595-11541595 19:11430775-11430775
36 CCDC151 NM_145045.5(CCDC151):c.250G>C (p.Asp84His)SNV Uncertain significance 651645 19:11541835-11541835 19:11431015-11431015
37 CCDC151 NM_145045.5(CCDC151):c.216T>A (p.Ala72=)SNV Likely benign 241944 rs372211022 19:11545622-11545622 19:11434801-11434801
38 CCDC151 NM_145045.5(CCDC151):c.366+9C>TSNV Likely benign 477981 rs370978492 19:11541710-11541710 19:11430890-11430890
39 CCDC151 NM_145045.5(CCDC151):c.1275G>A (p.Val425=)SNV Likely benign 477979 rs1555721612 19:11533371-11533371 19:11422703-11422703
40 CCDC151 NM_145045.5(CCDC151):c.840+10C>TSNV Likely benign 477987 rs535470120 19:11537256-11537256 19:11426436-11426436
41 CCDC151 NM_145045.5(CCDC151):c.1115A>T (p.His372Leu)SNV Likely benign 544217 rs200773510 19:11534547-11534547 19:11423878-11423878
42 CCDC151 NM_145045.5(CCDC151):c.398G>A (p.Arg133His)SNV Likely benign 544218 rs112493796 19:11541565-11541565 19:11430745-11430745
43 CCDC151 NM_145045.5(CCDC151):c.1204C>T (p.Leu402=)SNV Likely benign 544216 rs778844818 19:11533442-11533442 19:11422774-11422774
44 CCDC151 NM_145045.5(CCDC151):c.1329G>A (p.Arg443=)SNV Likely benign 414139 rs758094826 19:11533244-11533244 19:11422576-11422576
45 CCDC151 NM_145045.5(CCDC151):c.424C>G (p.Leu142Val)SNV Benign 414138 rs61739927 19:11541539-11541539 19:11430719-11430719
46 CCDC151 NM_145045.5(CCDC151):c.254G>A (p.Arg85Gln)SNV Benign 414142 rs143192349 19:11541831-11541831 19:11431011-11431011
47 CCDC151 NM_145045.5(CCDC151):c.1705G>T (p.Val569Leu)SNV Benign 241943 rs544310246 19:11531586-11531586 19:11420918-11420918
48 CCDC151 NM_145045.5(CCDC151):c.729C>T (p.Asn243=)SNV Benign 241946 rs11879596 19:11537377-11537377 19:11426557-11426557
49 CCDC151 NM_145045.5(CCDC151):c.148C>T (p.Pro50Ser)SNV Benign 241942 rs143295007 19:11545690-11545690 19:11434869-11434869
50 CCDC151 NM_145045.5(CCDC151):c.614C>T (p.Thr205Ile)SNV Benign 241945 rs35061520 19:11537603-11537603 19:11426783-11426783

Expression for Ciliary Dyskinesia, Primary, 30

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 30.

Pathways for Ciliary Dyskinesia, Primary, 30

GO Terms for Ciliary Dyskinesia, Primary, 30

Sources for Ciliary Dyskinesia, Primary, 30

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