CILD23
MCID: CLR097
MIFTS: 25

Ciliary Dyskinesia, Primary, 23 (CILD23)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 23

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 23:

Name: Ciliary Dyskinesia, Primary, 23 57 72 70
Primary Ciliary Dyskinesia 23 12 29 6
Cild23 57 12 72
Primary Ciliary Dyskinesia 23 with or Without Situs Inversus 12 72
Ciliary Dyskinesia, Primary, 23, with or Without Situs Inversus 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset in early childhood


HPO:

31
ciliary dyskinesia, primary, 23:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110609
OMIM® 57 615451
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
UMLS 70 C3809548

Summaries for Ciliary Dyskinesia, Primary, 23

OMIM® : 57 Primary ciliary dyskinesia-23 is an autosomal recessive disorder resulting from defective ciliary motility. Affected individuals have respiratory distress and recurrent upper and lower airway infections, and they often develop bronchiectasis. About 50% of patients have situs inversus or laterality defects. Ultrastructural analysis of respiratory cilia shows defects in the outer dynein arm (summary by Hjeij et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. (615451) (Updated 05-Apr-2021)

MalaCards based summary : Ciliary Dyskinesia, Primary, 23, is also known as primary ciliary dyskinesia 23. An important gene associated with Ciliary Dyskinesia, Primary, 23 is ODAD2 (Outer Dynein Arm Docking Complex Subunit 2). Related phenotypes are recurrent otitis media and situs inversus totalis

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has material basis in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p.

UniProtKB/Swiss-Prot : 72 Ciliary dyskinesia, primary, 23: 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.

Related Diseases for Ciliary Dyskinesia, Primary, 23

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 23

Human phenotypes related to Ciliary Dyskinesia, Primary, 23:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 31 HP:0000403
2 situs inversus totalis 31 HP:0001696
3 bronchiectasis 31 HP:0002110
4 ciliary dyskinesia 31 HP:0012265
5 rhinitis 31 HP:0012384
6 recurrent sinusitis 31 HP:0011108
7 chronic bronchitis 31 HP:0004469
8 respiratory insufficiency due to defective ciliary clearance 31 HP:0200073

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Nose:
rhinitis

Respiratory:
respiratory insufficiency due to defective ciliary clearance
respiratory infections, recurrent

Head And Neck Head:
sinusitis, recurrent

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

Respiratory Airways:
chronic bronchitis

Laboratory Abnormalities:
decreased nasal nitric oxide
electron microscopy of patient respiratory cells shows defects of outer dynein arms
decreased or absent ciliary motility

Head And Neck Ears:
otitis media, recurrent

Clinical features from OMIM®:

615451 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 23

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 23

Genetic Tests for Ciliary Dyskinesia, Primary, 23

Genetic tests related to Ciliary Dyskinesia, Primary, 23:

# Genetic test Affiliating Genes
1 Primary Ciliary Dyskinesia 23 29 ODAD2

Anatomical Context for Ciliary Dyskinesia, Primary, 23

Publications for Ciliary Dyskinesia, Primary, 23

Articles related to Ciliary Dyskinesia, Primary, 23:

# Title Authors PMID Year
1
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. 57 6
24203976 2014
2
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 6 57
23849778 2013

Variations for Ciliary Dyskinesia, Primary, 23

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 23:

6 (show top 50) (show all 158)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ODAD2 NM_018076.5(ODAD2):c.1972G>T (p.Glu658Ter) SNV Pathogenic 101070 rs587777199 GRCh37: 10:28229506-28229506
GRCh38: 10:27940577-27940577
2 ODAD2 NM_018076.5(ODAD2):c.2014G>T (p.Glu672Ter) SNV Pathogenic 242860 rs771920114 GRCh37: 10:28228909-28228909
GRCh38: 10:27939980-27939980
3 ODAD2 NM_018076.5(ODAD2):c.1969C>T (p.Gln657Ter) SNV Pathogenic 242858 rs868755574 GRCh37: 10:28229509-28229509
GRCh38: 10:27940580-27940580
4 ODAD2 NM_018076.5(ODAD2):c.2495+1G>A SNV Pathogenic 242857 rs879253744 GRCh37: 10:28223938-28223938
GRCh38: 10:27935009-27935009
5 ODAD2 NM_018076.5(ODAD2):c.1267_1268del (p.Thr422_Val423insTer) Deletion Pathogenic 474571 rs1409069267 GRCh37: 10:28250615-28250616
GRCh38: 10:27961686-27961687
6 ODAD2 NM_018076.5(ODAD2):c.1076G>A (p.Trp359Ter) SNV Pathogenic 571362 rs768447289 GRCh37: 10:28260103-28260103
GRCh38: 10:27971174-27971174
7 ODAD2 NC_000010.11:g.(?_27935000)_(28000048_?)del Deletion Pathogenic 832042 GRCh37: 10:28223929-28288977
GRCh38:
8 ODAD2 NC_000010.11:g.(?_27812492)_(27812645_?)del Deletion Pathogenic 642637 GRCh37: 10:28101421-28101574
GRCh38: 10:27812492-27812645
9 ODAD2 NM_018076.5(ODAD2):c.564dup (p.His189fs) Duplication Pathogenic 653813 rs1588663203 GRCh37: 10:28273958-28273959
GRCh38: 10:27985029-27985030
10 ODAD2 nsv1067903 Deletion Pathogenic 66044 GRCh37: 10:28270060-28275320
GRCh38: 10:27981131-27986391
11 ODAD2 NM_018076.5(ODAD2):c.2712del (p.Ile905fs) Deletion Pathogenic 66046 rs587777048 GRCh37: 10:28151450-28151450
GRCh38: 10:27862521-27862521
12 ODAD2 NM_018076.5(ODAD2):c.2675C>A (p.Ser892Ter) SNV Pathogenic 66047 rs587777049 GRCh37: 10:28151487-28151487
GRCh38: 10:27862558-27862558
13 ODAD2 NM_018076.5(ODAD2):c.1669G>T (p.Glu557Ter) SNV Pathogenic 208997 rs145742175 GRCh37: 10:28233225-28233225
GRCh38: 10:27944296-27944296
14 ODAD2 NM_018076.5(ODAD2):c.724C>T (p.Gln242Ter) SNV Pathogenic 659262 rs369669370 GRCh37: 10:28272867-28272867
GRCh38: 10:27983938-27983938
15 ODAD2 NM_018076.5(ODAD2):c.1165C>T (p.Gln389Ter) SNV Pathogenic 1032787 GRCh37: 10:28257925-28257925
GRCh38: 10:27968996-27968996
16 ODAD2 NM_018076.5(ODAD2):c.2097+1G>A SNV Pathogenic 812721 rs149368374 GRCh37: 10:28228825-28228825
GRCh38: 10:27939896-27939896
17 ODAD2 NM_018076.5(ODAD2):c.3030G>A (p.Leu1010=) SNV Pathogenic 1032788 GRCh37: 10:28101546-28101546
GRCh38: 10:27812617-27812617
18 ODAD2 NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp) SNV Pathogenic/Likely pathogenic 66045 rs587777047 GRCh37: 10:28151382-28151382
GRCh38: 10:27862453-27862453
19 ODAD2 NM_018076.5(ODAD2):c.2097+1G>T SNV Pathogenic/Likely pathogenic 654954 rs149368374 GRCh37: 10:28228825-28228825
GRCh38: 10:27939896-27939896
20 ODAD2 NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter) SNV Pathogenic/Likely pathogenic 242859 rs201213030 GRCh37: 10:28225688-28225688
GRCh38: 10:27936759-27936759
21 ODAD2 NM_018076.5(ODAD2):c.1143-1G>T SNV Likely pathogenic 541494 rs1554822213 GRCh37: 10:28257948-28257948
GRCh38: 10:27969019-27969019
22 ODAD2 NC_000010.11:g.(?_27860625)_(27862622_?)del Deletion Likely pathogenic 417578 GRCh37: 10:28149554-28151551
GRCh38: 10:27860625-27862622
23 ODAD2 NM_018076.2(ARMC4):c.1143-487_1986+160dup Duplication Likely pathogenic 576616 GRCh37: 10:28229332-28258434
GRCh38: 10:27940403-27969505
24 ODAD2 NM_018076.5(ODAD2):c.2800-2A>G SNV Likely pathogenic 577105 rs1297261096 GRCh37: 10:28149777-28149777
GRCh38: 10:27860848-27860848
25 ODAD2 NM_018076.5(ODAD2):c.184A>G (p.Ser62Gly) SNV Uncertain significance 583379 rs764481366 GRCh37: 10:28283888-28283888
GRCh38: 10:27994959-27994959
26 ODAD2 NM_018076.5(ODAD2):c.427A>G (p.Thr143Ala) SNV Uncertain significance 641873 rs1432468402 GRCh37: 10:28274096-28274096
GRCh38: 10:27985167-27985167
27 ODAD2 NM_018076.5(ODAD2):c.242C>T (p.Ser81Leu) SNV Uncertain significance 571422 rs769690437 GRCh37: 10:28276455-28276455
GRCh38: 10:27987526-27987526
28 ODAD2 NM_018076.5(ODAD2):c.2257C>T (p.Arg753Trp) SNV Uncertain significance 576315 rs763662864 GRCh37: 10:28224177-28224177
GRCh38: 10:27935248-27935248
29 ODAD2 NM_018076.5(ODAD2):c.2258G>A (p.Arg753Gln) SNV Uncertain significance 541493 rs760325470 GRCh37: 10:28224176-28224176
GRCh38: 10:27935247-27935247
30 ODAD2 NM_018076.5(ODAD2):c.2976del (p.Asp993fs) Deletion Uncertain significance 561182 rs1327805728 GRCh37: 10:28149599-28149599
GRCh38: 10:27860670-27860670
31 ODAD2 NM_018076.5(ODAD2):c.1606G>A (p.Gly536Ser) SNV Uncertain significance 655476 rs1334827223 GRCh37: 10:28233288-28233288
GRCh38: 10:27944359-27944359
32 ODAD2 NM_018076.5(ODAD2):c.648C>G (p.Asn216Lys) SNV Uncertain significance 655712 rs1588661852 GRCh37: 10:28273147-28273147
GRCh38: 10:27984218-27984218
33 ODAD2 NM_018076.5(ODAD2):c.1529G>A (p.Cys510Tyr) SNV Uncertain significance 656394 rs1472984153 GRCh37: 10:28233749-28233749
GRCh38: 10:27944820-27944820
34 ODAD2 NM_018076.5(ODAD2):c.3113C>G (p.Thr1038Arg) SNV Uncertain significance 657138 rs767489618 GRCh37: 10:28101463-28101463
GRCh38: 10:27812534-27812534
35 ODAD2 NM_018076.5(ODAD2):c.279T>G (p.Phe93Leu) SNV Uncertain significance 660005 rs1588667030 GRCh37: 10:28276418-28276418
GRCh38: 10:27987489-27987489
36 ODAD2 NM_018076.5(ODAD2):c.1345T>G (p.Ser449Ala) SNV Uncertain significance 834792 GRCh37: 10:28250538-28250538
GRCh38: 10:27961609-27961609
37 ODAD2 NM_018076.5(ODAD2):c.2942G>T (p.Arg981Leu) SNV Uncertain significance 836499 GRCh37: 10:28149633-28149633
GRCh38: 10:27860704-27860704
38 ODAD2 NM_018076.5(ODAD2):c.3013G>A (p.Ala1005Thr) SNV Uncertain significance 843270 GRCh37: 10:28149562-28149562
GRCh38: 10:27860633-27860633
39 ODAD2 NM_018076.5(ODAD2):c.530A>T (p.Gln177Leu) SNV Uncertain significance 859078 GRCh37: 10:28273993-28273993
GRCh38: 10:27985064-27985064
40 ODAD2 NM_018076.5(ODAD2):c.2897C>A (p.Ala966Asp) SNV Uncertain significance 859136 GRCh37: 10:28149678-28149678
GRCh38: 10:27860749-27860749
41 ODAD2 NM_018076.5(ODAD2):c.2191C>T (p.Arg731Trp) SNV Uncertain significance 946708 GRCh37: 10:28225716-28225716
GRCh38: 10:27936787-27936787
42 ODAD2 NM_018076.5(ODAD2):c.1174A>G (p.Lys392Glu) SNV Uncertain significance 966023 GRCh37: 10:28257916-28257916
GRCh38: 10:27968987-27968987
43 ODAD2 NM_018076.5(ODAD2):c.1592T>G (p.Ile531Ser) SNV Uncertain significance 968711 GRCh37: 10:28233302-28233302
GRCh38: 10:27944373-27944373
44 ODAD2 NM_018076.5(ODAD2):c.1386+5G>A SNV Uncertain significance 969626 GRCh37: 10:28250492-28250492
GRCh38: 10:27961563-27961563
45 ODAD2 NM_018076.5(ODAD2):c.1603G>C (p.Gly535Arg) SNV Uncertain significance 972407 GRCh37: 10:28233291-28233291
GRCh38: 10:27944362-27944362
46 ODAD2 NM_018076.5(ODAD2):c.1850G>T (p.Ser617Ile) SNV Uncertain significance 412250 rs754364124 GRCh37: 10:28229628-28229628
GRCh38: 10:27940699-27940699
47 ODAD2 NM_018076.5(ODAD2):c.1594G>A (p.Val532Ile) SNV Uncertain significance 474576 rs140950719 GRCh37: 10:28233300-28233300
GRCh38: 10:27944371-27944371
48 ODAD2 NM_018076.5(ODAD2):c.2933A>G (p.Asn978Ser) SNV Uncertain significance 570432 rs149687959 GRCh37: 10:28149642-28149642
GRCh38: 10:27860713-27860713
49 ODAD2 NM_018076.5(ODAD2):c.2192G>A (p.Arg731Gln) SNV Uncertain significance 654682 rs746405520 GRCh37: 10:28225715-28225715
GRCh38: 10:27936786-27936786
50 ODAD2 NM_018076.5(ODAD2):c.1319G>A (p.Arg440His) SNV Uncertain significance 940947 GRCh37: 10:28250564-28250564
GRCh38: 10:27961635-27961635

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 23:

72
# Symbol AA change Variation ID SNP ID
1 ODAD2 p.Leu927Trp VAR_070228 rs587777047

Expression for Ciliary Dyskinesia, Primary, 23

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 23.

Pathways for Ciliary Dyskinesia, Primary, 23

GO Terms for Ciliary Dyskinesia, Primary, 23

Sources for Ciliary Dyskinesia, Primary, 23

3 CDC
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