CILD30
MCID: CLR114
MIFTS: 25

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 57 72 29 6 70
Cild30 57 12 72
Ciliary Dyskinesia, Primary, 30, with or Without Situs Inversus 57
Primary Ciliary Dyskinesia 30 with or Without Situs Inversus 72
Primary Ciliary Dyskinesia 30 Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, Type 30 39
Primary Ciliary Dyskinesia 30 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110624
OMIM® 57 616037
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
UMLS 70 C4015016

Summaries for Ciliary Dyskinesia, Primary, 30

UniProtKB/Swiss-Prot : 72 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 ODAD3 (Outer Dynein Arm Docking Complex Subunit 3). Related phenotypes are recurrent respiratory infections and recurrent otitis media

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 recurrent otitis media 31 HP:0000403
3 cough 31 HP:0012735
4 asthma 31 HP:0002099
5 nasal polyposis 31 HP:0100582
6 situs inversus totalis 31 HP:0001696
7 bronchiectasis 31 HP:0002110
8 ciliary dyskinesia 31 HP:0012265
9 nasal obstruction 31 HP:0001742
10 chronic bronchitis 31 HP:0004469
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®:

57 (Updated 20-May-2021)
Respiratory:
cough
asthma
respiratory insufficiency due to defective ciliary clearance
respiratory infections, recurrent
respiratory insufficiency, neonatal

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

Head And Neck Ears:
otitis media, recurrent

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

Respiratory Airways:
chronic bronchitis

Head And Neck Nose:
nasal polyps
nasal blockage

Cardiovascular Heart:
dextrocardia (in some patients)

Clinical features from OMIM®:

616037 (Updated 20-May-2021)

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 ODAD3

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. 57 6
25224326 2014
2
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. 6 57
25192045 2014
3
The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals. 57
24067530 2014

Variations for Ciliary Dyskinesia, Primary, 30

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

6 (show top 50) (show all 78)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ODAD3 NM_145045.5(ODAD3):c.267dup (p.Glu90Ter) Duplication Pathogenic 477980 rs1555723797 GRCh37: 19:11541817-11541818
GRCh38: 19:11430997-11430998
2 ODAD3 NM_145045.5(ODAD3):c.487C>T (p.Gln163Ter) SNV Pathogenic 647259 rs1277185772 GRCh37: 19:11537818-11537818
GRCh38: 19:11426998-11426998
3 ODAD3 NM_145045.5(ODAD3):c.583_595dup (p.His199fs) Duplication Pathogenic 570784 rs750658321 GRCh37: 19:11537709-11537710
GRCh38: 19:11426889-11426890
4 ODAD3 NC_000019.9:g.(?_11541499)_(11545857_?)del Deletion Pathogenic 830990 GRCh37: 19:11541499-11545857
GRCh38:
5 ODAD3 NM_145045.5(ODAD3):c.925G>T (p.Glu309Ter) SNV Pathogenic 156365 rs587777779 GRCh37: 19:11537002-11537002
GRCh38: 19:11426182-11426182
6 ODAD3 NM_145045.5(ODAD3):c.1256C>A (p.Ser419Ter) SNV Pathogenic 156366 rs587777780 GRCh37: 19:11533390-11533390
GRCh38: 19:11422722-11422722
7 ODAD3 NM_145045.5(ODAD3):c.964-1G>A SNV Likely pathogenic 570121 rs1480671731 GRCh37: 19:11534699-11534699
GRCh38: 19:11424030-11424030
8 ODAD3 NM_145045.5(ODAD3):c.244+1G>T SNV Likely pathogenic 858967 GRCh37: 19:11545593-11545593
GRCh38: 19:11434772-11434772
9 ODAD3 NM_145045.5(ODAD3):c.1117-1G>C SNV Likely pathogenic 647642 rs746849797 GRCh37: 19:11533530-11533530
GRCh38: 19:11422862-11422862
10 ODAD3 NM_145045.5(ODAD3):c.367-1G>C SNV Likely pathogenic 477982 rs1186608353 GRCh37: 19:11541597-11541597
GRCh38: 19:11430777-11430777
11 ODAD3 NM_145045.5(ODAD3):c.576G>T (p.Met192Ile) SNV Uncertain significance 477985 rs201977207 GRCh37: 19:11537729-11537729
GRCh38: 19:11426909-11426909
12 ODAD3 NM_145045.5(ODAD3):c.1035G>C (p.Glu345Asp) SNV Uncertain significance 406819 rs1053136709 GRCh37: 19:11534627-11534627
GRCh38: 19:11423958-11423958
13 ODAD3 NM_145045.5(ODAD3):c.767_787del (p.Val256_Leu262del) Deletion Uncertain significance 406813 rs1064792932 GRCh37: 19:11537319-11537339
GRCh38: 19:11426499-11426519
14 ODAD3 NM_145045.5(ODAD3):c.907G>A (p.Glu303Lys) SNV Uncertain significance 406816 rs1060501319 GRCh37: 19:11537020-11537020
GRCh38: 19:11426200-11426200
15 ODAD3 NM_145045.5(ODAD3):c.711_713dup (p.Met238_Asp239insIle) Duplication Uncertain significance 406790 rs1060501309 GRCh37: 19:11537503-11537504
GRCh38: 19:11426683-11426684
16 ODAD3 NM_145045.5(ODAD3):c.481G>A (p.Val161Met) SNV Uncertain significance 477983 rs1555723194 GRCh37: 19:11537824-11537824
GRCh38: 19:11427004-11427004
17 ODAD3 NM_145045.5(ODAD3):c.707A>G (p.Tyr236Cys) SNV Uncertain significance 477986 rs200305902 GRCh37: 19:11537510-11537510
GRCh38: 19:11426690-11426690
18 ODAD3 NM_145045.5(ODAD3):c.526A>G (p.Arg176Gly) SNV Uncertain significance 477984 rs143287033 GRCh37: 19:11537779-11537779
GRCh38: 19:11426959-11426959
19 ODAD3 NM_145045.5(ODAD3):c.208C>G (p.Gln70Glu) SNV Uncertain significance 544213 rs892807467 GRCh37: 19:11545630-11545630
GRCh38: 19:11434809-11434809
20 ODAD3 NM_145045.5(ODAD3):c.245A>G (p.Glu82Gly) SNV Uncertain significance 544214 rs1318880960 GRCh37: 19:11541840-11541840
GRCh38: 19:11431020-11431020
21 ODAD3 NM_145045.5(ODAD3):c.1490C>G (p.Pro497Arg) SNV Uncertain significance 544215 rs1340885760 GRCh37: 19:11532445-11532445
GRCh38: 19:11421777-11421777
22 ODAD3 NM_145045.5(ODAD3):c.914A>G (p.Lys305Arg) SNV Uncertain significance 228474 rs762033637 GRCh37: 19:11537013-11537013
GRCh38: 19:11426193-11426193
23 ODAD3 NM_145045.5(ODAD3):c.901A>G (p.Ile301Val) SNV Uncertain significance 241947 rs750661034 GRCh37: 19:11537026-11537026
GRCh38: 19:11426206-11426206
24 ODAD3 NM_145045.5(ODAD3):c.184G>T (p.Ala62Ser) SNV Uncertain significance 406820 rs996181868 GRCh37: 19:11545654-11545654
GRCh38: 19:11434833-11434833
25 ODAD3 NM_145045.5(ODAD3):c.8C>G (p.Ser3Cys) SNV Uncertain significance 406814 rs756389981 GRCh37: 19:11545830-11545830
GRCh38: 19:11435009-11435009
26 ODAD3 NM_145045.5(ODAD3):c.52G>A (p.Asp18Asn) SNV Uncertain significance 406817 rs578106295 GRCh37: 19:11545786-11545786
GRCh38: 19:11434965-11434965
27 ODAD3 NM_145045.5(ODAD3):c.922G>A (p.Ala308Thr) SNV Uncertain significance 406815 rs201899388 GRCh37: 19:11537005-11537005
GRCh38: 19:11426185-11426185
28 ODAD3 NM_145045.5(ODAD3):c.1316A>G (p.Lys439Arg) SNV Uncertain significance 406818 rs1060501320 GRCh37: 19:11533257-11533257
GRCh38: 19:11422589-11422589
29 ODAD3 NM_145045.5(ODAD3):c.250G>C (p.Asp84His) SNV Uncertain significance 651645 rs148235598 GRCh37: 19:11541835-11541835
GRCh38: 19:11431015-11431015
30 ODAD3 NM_145045.5(ODAD3):c.1645C>A (p.Pro549Thr) SNV Uncertain significance 653643 rs1599451068 GRCh37: 19:11531826-11531826
GRCh38: 19:11421158-11421158
31 ODAD3 NM_145045.5(ODAD3):c.1463T>C (p.Leu488Pro) SNV Uncertain significance 660391 rs1220505441 GRCh37: 19:11532472-11532472
GRCh38: 19:11421804-11421804
32 ODAD3 NM_145045.5(ODAD3):c.659C>T (p.Ala220Val) SNV Uncertain significance 660537 rs368057071 GRCh37: 19:11537558-11537558
GRCh38: 19:11426738-11426738
33 ODAD3 NM_145045.5(ODAD3):c.919C>G (p.Arg307Gly) SNV Uncertain significance 662085 rs375587857 GRCh37: 19:11537008-11537008
GRCh38: 19:11426188-11426188
34 ODAD3 NM_145045.5(ODAD3):c.809A>G (p.Gln270Arg) SNV Uncertain significance 664574 rs1326979360 GRCh37: 19:11537297-11537297
GRCh38: 19:11426477-11426477
35 ODAD3 NM_145045.5(ODAD3):c.664G>A (p.Glu222Lys) SNV Uncertain significance 836190 GRCh37: 19:11537553-11537553
GRCh38: 19:11426733-11426733
36 ODAD3 NM_145045.5(ODAD3):c.1116+3G>A SNV Uncertain significance 846040 GRCh37: 19:11534543-11534543
GRCh38: 19:11423874-11423874
37 ODAD3 NM_145045.5(ODAD3):c.1507G>T (p.Val503Leu) SNV Uncertain significance 846529 GRCh37: 19:11532428-11532428
GRCh38: 19:11421760-11421760
38 ODAD3 NM_145045.5(ODAD3):c.511G>A (p.Val171Met) SNV Uncertain significance 850637 GRCh37: 19:11537794-11537794
GRCh38: 19:11426974-11426974
39 ODAD3 NM_145045.5(ODAD3):c.199G>C (p.Val67Leu) SNV Uncertain significance 852533 GRCh37: 19:11545639-11545639
GRCh38: 19:11434818-11434818
40 ODAD3 NM_145045.5(ODAD3):c.1111A>G (p.Thr371Ala) SNV Uncertain significance 582033 rs546138389 GRCh37: 19:11534551-11534551
GRCh38: 19:11423882-11423882
41 ODAD3 NM_145045.5(ODAD3):c.368G>A (p.Gly123Glu) SNV Uncertain significance 644395 rs747949941 GRCh37: 19:11541595-11541595
GRCh38: 19:11430775-11430775
42 ODAD3 NM_145045.5(ODAD3):c.1361G>A (p.Arg454His) SNV Uncertain significance 644900 rs747718544 GRCh37: 19:11533212-11533212
GRCh38: 19:11422544-11422544
43 ODAD3 NM_145045.5(ODAD3):c.1606G>A (p.Glu536Lys) SNV Uncertain significance 566365 rs201176850 GRCh37: 19:11531865-11531865
GRCh38: 19:11421197-11421197
44 ODAD3 NM_145045.5(ODAD3):c.619C>T (p.Arg207Trp) SNV Uncertain significance 935091 GRCh37: 19:11537598-11537598
GRCh38: 19:11426778-11426778
45 ODAD3 NM_145045.5(ODAD3):c.382G>A (p.Val128Ile) SNV Uncertain significance 936395 GRCh37: 19:11541581-11541581
GRCh38: 19:11430761-11430761
46 ODAD3 NM_145045.5(ODAD3):c.766G>A (p.Val256Met) SNV Uncertain significance 945948 GRCh37: 19:11537340-11537340
GRCh38: 19:11426520-11426520
47 ODAD3 NM_145045.5(ODAD3):c.1435-5C>A SNV Uncertain significance 949281 GRCh37: 19:11532505-11532505
GRCh38: 19:11421837-11421837
48 ODAD3 NM_145045.5(ODAD3):c.1552G>A (p.Asp518Asn) SNV Uncertain significance 956802 GRCh37: 19:11532383-11532383
GRCh38: 19:11421715-11421715
49 ODAD3 NM_145045.5(ODAD3):c.1116C>G (p.His372Gln) SNV Uncertain significance 960106 GRCh37: 19:11534546-11534546
GRCh38: 19:11423877-11423877
50 ODAD3 NM_145045.5(ODAD3):c.840+6A>G SNV Uncertain significance 970752 GRCh37: 19:11537260-11537260
GRCh38: 19:11426440-11426440

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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