CILD23
MCID: CLR097
MIFTS: 21

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 58 76 74
Primary Ciliary Dyskinesia 23 12 30 6
Cild23 58 12 76
Primary Ciliary Dyskinesia 23 with or Without Situs Inversus 12 76
Ciliary Dyskinesia, Primary, 23, with or Without Situs Inversus 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

33
ciliary dyskinesia, primary, 23:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110609
OMIM 58 615451
MeSH 45 D007619
ICD10 34 Q34.8
UMLS 74 C3809548

Summaries for Ciliary Dyskinesia, Primary, 23

OMIM : 58 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)

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 ARMC4 (Armadillo Repeat Containing 4). 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 : 76 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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 33 HP:0000403
2 situs inversus totalis 33 HP:0001696
3 bronchiectasis 33 HP:0002110
4 rhinitis 33 HP:0012384
5 ciliary dyskinesia 33 HP:0012265
6 recurrent sinusitis 33 HP:0011108
7 chronic bronchitis 33 HP:0004469
8 respiratory insufficiency due to defective ciliary clearance 33 HP:0200073

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
rhinitis

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

Head And Neck Ears:
otitis media, recurrent

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

Respiratory Airways:
chronic bronchitis

Head And Neck Head:
sinusitis, recurrent

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

Clinical features from OMIM:

615451

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 30 ARMC4

Anatomical Context for Ciliary Dyskinesia, Primary, 23

Publications for Ciliary Dyskinesia, Primary, 23

Articles related to Ciliary Dyskinesia, Primary, 23:

# Title Authors 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. ( 24203976 )
2014
2
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. ( 23849778 )
2013

Variations for Ciliary Dyskinesia, Primary, 23

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

76
# Symbol AA change Variation ID SNP ID
1 ARMC4 p.Leu927Trp VAR_070228 rs587777047

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

6 (show top 50) (show all 206)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARMC4 NC_000010.11: g.27981131_27986391del5261 deletion Pathogenic GRCh37 Chromosome 10, 28270060: 28275320
2 ARMC4 NC_000010.11: g.27981131_27986391del5261 deletion Pathogenic GRCh38 Chromosome 10, 27981131: 27986391
3 ARMC4 NM_018076.4(ARMC4): c.2780T> G (p.Leu927Trp) single nucleotide variant Pathogenic rs587777047 GRCh37 Chromosome 10, 28151382: 28151382
4 ARMC4 NM_018076.4(ARMC4): c.2780T> G (p.Leu927Trp) single nucleotide variant Pathogenic rs587777047 GRCh38 Chromosome 10, 27862453: 27862453
5 ARMC4 NM_018076.4(ARMC4): c.2712del (p.Ile905Leufs) deletion Pathogenic rs587777048 GRCh37 Chromosome 10, 28151450: 28151450
6 ARMC4 NM_018076.4(ARMC4): c.2712del (p.Ile905Leufs) deletion Pathogenic rs587777048 GRCh38 Chromosome 10, 27862521: 27862521
7 ARMC4 NM_018076.4(ARMC4): c.2675C> A (p.Ser892Ter) single nucleotide variant Pathogenic rs587777049 GRCh37 Chromosome 10, 28151487: 28151487
8 ARMC4 NM_018076.4(ARMC4): c.2675C> A (p.Ser892Ter) single nucleotide variant Pathogenic rs587777049 GRCh38 Chromosome 10, 27862558: 27862558
9 ARMC4 NM_018076.4(ARMC4): c.1972G> T (p.Glu658Ter) single nucleotide variant Pathogenic rs587777199 GRCh37 Chromosome 10, 28229506: 28229506
10 ARMC4 NM_018076.4(ARMC4): c.1972G> T (p.Glu658Ter) single nucleotide variant Pathogenic rs587777199 GRCh38 Chromosome 10, 27940577: 27940577
11 ARMC4 NM_018076.4(ARMC4): c.1669G> T (p.Glu557Ter) single nucleotide variant Pathogenic rs145742175 GRCh37 Chromosome 10, 28233225: 28233225
12 ARMC4 NM_018076.4(ARMC4): c.1669G> T (p.Glu557Ter) single nucleotide variant Pathogenic rs145742175 GRCh38 Chromosome 10, 27944296: 27944296
13 ARMC4 NM_018076.4(ARMC4): c.2342G> T (p.Gly781Val) single nucleotide variant Likely benign rs145619075 GRCh37 Chromosome 10, 28224092: 28224092
14 ARMC4 NM_018076.4(ARMC4): c.2342G> T (p.Gly781Val) single nucleotide variant Likely benign rs145619075 GRCh38 Chromosome 10, 27935163: 27935163
15 ARMC4 NM_018076.4(ARMC4): c.2839T> C (p.Ser947Pro) single nucleotide variant Uncertain significance rs772552604 GRCh38 Chromosome 10, 27860807: 27860807
16 ARMC4 NM_018076.4(ARMC4): c.2979C> T (p.Asp993=) single nucleotide variant Benign rs74555138 GRCh37 Chromosome 10, 28149596: 28149596
17 ARMC4 NM_018076.4(ARMC4): c.2979C> T (p.Asp993=) single nucleotide variant Benign rs74555138 GRCh38 Chromosome 10, 27860667: 27860667
18 ARMC4 NM_018076.4(ARMC4): c.2839T> C (p.Ser947Pro) single nucleotide variant Uncertain significance rs772552604 GRCh37 Chromosome 10, 28149736: 28149736
19 ARMC4 NM_018076.4(ARMC4): c.2496-7A> G single nucleotide variant Likely benign rs201203284 GRCh38 Chromosome 10, 27907784: 27907784
20 ARMC4 NM_018076.4(ARMC4): c.2496-7A> G single nucleotide variant Likely benign rs201203284 GRCh37 Chromosome 10, 28196713: 28196713
21 ARMC4 NM_018076.4(ARMC4): c.2286G> A (p.Val762=) single nucleotide variant Uncertain significance rs780112130 GRCh37 Chromosome 10, 28224148: 28224148
22 ARMC4 NM_018076.4(ARMC4): c.2286G> A (p.Val762=) single nucleotide variant Uncertain significance rs780112130 GRCh38 Chromosome 10, 27935219: 27935219
23 ARMC4 NM_018076.4(ARMC4): c.2276A> T (p.Glu759Val) single nucleotide variant Uncertain significance rs878855047 GRCh37 Chromosome 10, 28224158: 28224158
24 ARMC4 NM_018076.4(ARMC4): c.2276A> T (p.Glu759Val) single nucleotide variant Uncertain significance rs878855047 GRCh38 Chromosome 10, 27935229: 27935229
25 ARMC4 NM_018076.4(ARMC4): c.1922T> C (p.Leu641Pro) single nucleotide variant Uncertain significance rs748101941 GRCh37 Chromosome 10, 28229556: 28229556
26 ARMC4 NM_018076.4(ARMC4): c.1922T> C (p.Leu641Pro) single nucleotide variant Uncertain significance rs748101941 GRCh38 Chromosome 10, 27940627: 27940627
27 ARMC4 NM_018076.4(ARMC4): c.1353T> C (p.Tyr451=) single nucleotide variant Likely benign rs149432727 GRCh37 Chromosome 10, 28250530: 28250530
28 ARMC4 NM_018076.4(ARMC4): c.1353T> C (p.Tyr451=) single nucleotide variant Likely benign rs149432727 GRCh38 Chromosome 10, 27961601: 27961601
29 ARMC4 NM_018076.4(ARMC4): c.1272C> T (p.Ser424=) single nucleotide variant Benign rs111982349 GRCh38 Chromosome 10, 27961682: 27961682
30 ARMC4 NM_018076.4(ARMC4): c.1272C> T (p.Ser424=) single nucleotide variant Benign rs111982349 GRCh37 Chromosome 10, 28250611: 28250611
31 ARMC4 NM_018076.4(ARMC4): c.1237C> G (p.Arg413Gly) single nucleotide variant Benign rs57067036 GRCh37 Chromosome 10, 28257853: 28257853
32 ARMC4 NM_018076.4(ARMC4): c.1237C> G (p.Arg413Gly) single nucleotide variant Benign rs57067036 GRCh38 Chromosome 10, 27968924: 27968924
33 ARMC4 NM_018076.4(ARMC4): c.1017C> T (p.Leu339=) single nucleotide variant Benign rs117723546 GRCh37 Chromosome 10, 28260162: 28260162
34 ARMC4 NM_018076.4(ARMC4): c.1017C> T (p.Leu339=) single nucleotide variant Benign rs117723546 GRCh38 Chromosome 10, 27971233: 27971233
35 ARMC4 NM_018076.4(ARMC4): c.995A> G (p.Lys332Arg) single nucleotide variant Likely benign rs148930400 GRCh38 Chromosome 10, 27971255: 27971255
36 ARMC4 NM_018076.4(ARMC4): c.995A> G (p.Lys332Arg) single nucleotide variant Likely benign rs148930400 GRCh37 Chromosome 10, 28260184: 28260184
37 ARMC4 NM_018076.4(ARMC4): c.883G> C (p.Val295Leu) single nucleotide variant Benign rs143215183 GRCh37 Chromosome 10, 28270448: 28270448
38 ARMC4 NM_018076.4(ARMC4): c.883G> C (p.Val295Leu) single nucleotide variant Benign rs143215183 GRCh38 Chromosome 10, 27981519: 27981519
39 ARMC4 NM_018076.4(ARMC4): c.717G> A (p.Pro239=) single nucleotide variant Benign rs150780082 GRCh38 Chromosome 10, 27983945: 27983945
40 ARMC4 NM_018076.4(ARMC4): c.717G> A (p.Pro239=) single nucleotide variant Benign rs150780082 GRCh37 Chromosome 10, 28272874: 28272874
41 ARMC4 NM_018076.4(ARMC4): c.205G> C (p.Glu69Gln) single nucleotide variant Likely benign rs61729351 GRCh37 Chromosome 10, 28283867: 28283867
42 ARMC4 NM_018076.4(ARMC4): c.205G> C (p.Glu69Gln) single nucleotide variant Likely benign rs61729351 GRCh38 Chromosome 10, 27994938: 27994938
43 ARMC4 NM_018076.4(ARMC4): c.2495+1G> A single nucleotide variant Pathogenic rs879253744 GRCh38 Chromosome 10, 27935009: 27935009
44 ARMC4 NM_018076.4(ARMC4): c.2495+1G> A single nucleotide variant Pathogenic rs879253744 GRCh37 Chromosome 10, 28223938: 28223938
45 ARMC4 NM_018076.4(ARMC4): c.2219G> A (p.Trp740Ter) single nucleotide variant Pathogenic rs201213030 GRCh37 Chromosome 10, 28225688: 28225688
46 ARMC4 NM_018076.4(ARMC4): c.2219G> A (p.Trp740Ter) single nucleotide variant Pathogenic rs201213030 GRCh38 Chromosome 10, 27936759: 27936759
47 ARMC4 NM_018076.4(ARMC4): c.2014G> T (p.Glu672Ter) single nucleotide variant Pathogenic rs771920114 GRCh37 Chromosome 10, 28228909: 28228909
48 ARMC4 NM_018076.4(ARMC4): c.2014G> T (p.Glu672Ter) single nucleotide variant Pathogenic rs771920114 GRCh38 Chromosome 10, 27939980: 27939980
49 ARMC4 NM_018076.4(ARMC4): c.1969C> T (p.Gln657Ter) single nucleotide variant Pathogenic rs868755574 GRCh38 Chromosome 10, 27940580: 27940580
50 ARMC4 NM_018076.4(ARMC4): c.1969C> T (p.Gln657Ter) single nucleotide variant Pathogenic rs868755574 GRCh37 Chromosome 10, 28229509: 28229509

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

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