CILD3
MCID: CLR134
MIFTS: 30

Ciliary Dyskinesia, Primary, 3 (CILD3)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 3

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 3:

Name: Ciliary Dyskinesia, Primary, 3 57 72 29 6 70
Ciliary Dyskinesia, Primary, 3, with or Without Situs Inversus 57 72 13
Cild3 57 12 72
Primary Ciliary Dyskinesia 3 with or Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, 3 39
Primary Ciliary Dyskinesia 3 12
Immotile Cilia Syndrome 3 72
Ics3 72

Characteristics:

HPO:

31
ciliary dyskinesia, primary, 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110599
OMIM® 57 608644
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
MedGen 41 C1837618
UMLS 70 C1837618

Summaries for Ciliary Dyskinesia, Primary, 3

OMIM® : 57 Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003). (608644) (Updated 20-May-2021)

MalaCards based summary : Ciliary Dyskinesia, Primary, 3, also known as ciliary dyskinesia, primary, 3, with or without situs inversus, is related to ciliary dyskinesia, primary, 1 and primary ciliary dyskinesia. An important gene associated with Ciliary Dyskinesia, Primary, 3 is DNAH5 (Dynein Axonemal Heavy Chain 5). Related phenotypes are recurrent otitis media and neonatal respiratory distress

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has material basis in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15.

UniProtKB/Swiss-Prot : 72 Ciliary dyskinesia, primary, 3: 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.

Related Diseases for Ciliary Dyskinesia, Primary, 3

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, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 1 9.6 LOC107457585 DNAH5
2 primary ciliary dyskinesia 9.5 LOC107457585 DNAH5

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 3

Human phenotypes related to Ciliary Dyskinesia, Primary, 3:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 31 very rare (1%) HP:0000403
2 neonatal respiratory distress 31 very rare (1%) HP:0002643
3 situs inversus totalis 31 very rare (1%) HP:0001696
4 bronchiectasis 31 very rare (1%) HP:0002110
5 recurrent sinusitis 31 very rare (1%) HP:0011108
6 ciliary dyskinesia 31 HP:0012265

Clinical features from OMIM®:

608644 (Updated 20-May-2021)

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 3

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 3

Genetic Tests for Ciliary Dyskinesia, Primary, 3

Genetic tests related to Ciliary Dyskinesia, Primary, 3:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 3 29 DNAH5

Anatomical Context for Ciliary Dyskinesia, Primary, 3

Publications for Ciliary Dyskinesia, Primary, 3

Articles related to Ciliary Dyskinesia, Primary, 3:

(show all 24)
# Title Authors PMID Year
1
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 57 6
23261302 2013
2
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 57 6
19357118 2009
3
Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus. 57 6
11912187 2002
4
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 57 6
11788826 2002
5
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
6
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
7
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. 6
27637300 2016
8
An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. 6
26228299 2016
9
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 6
25186273 2014
10
Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p. 6
25066065 2014
11
The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 6
24498942 2014
12
Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 6
23477994 2013
13
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 6
23891469 2013
14
Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. 6
22416021 2012
15
Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. 6
21270641 2011
16
Genetics, medicine, and the Plain people. 6
19630565 2009
17
Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia. 57
18037990 2007
18
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 6
16627867 2006
19
Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. 6
15750039 2005
20
Lateralization defects and ciliary dyskinesia: lessons from algae. 57
12615011 2003
21
Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene. 57
11062149 2000
22
A human syndrome caused by immotile cilia. 57
1084576 1976
23
[Bronchiectasis in adults: Etiological diagnosis]. 61
30318255 2018
24
[Evaluation of the tracheobronchial clearance in patients with chronic bronchial infections by an integrated system using radioactive aerosol inhalation scintigraphy]. 61
1823860 1991

Variations for Ciliary Dyskinesia, Primary, 3

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 3:

6 (show top 50) (show all 481)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAH5 DNAH5, 1-BP INS, 5563A Insertion Pathogenic 6477 GRCh37:
GRCh38:
2 DNAH5 NM_001369.2(DNAH5):c.10555G>C (p.Gly3519Arg) SNV Pathogenic 6478 rs79967166 GRCh37: 5:13754312-13754312
GRCh38: 5:13754203-13754203
3 DNAH5 DNAH5, IVS74AS, G-C, -1 SNV Pathogenic 6479 GRCh37:
GRCh38:
4 DNAH5 NM_001369.2(DNAH5):c.1828C>T (p.Gln610Ter) SNV Pathogenic 6480 rs121908853 GRCh37: 5:13901585-13901585
GRCh38: 5:13901476-13901476
5 DNAH5 NM_001369.2(DNAH5):c.12973C>T (p.Gln4325Ter) SNV Pathogenic 869372 GRCh37: 5:13714666-13714666
GRCh38: 5:13714557-13714557
6 DNAH5 NM_001369.2(DNAH5):c.4113del (p.Gln1372fs) Deletion Pathogenic 869373 GRCh37: 5:13866332-13866332
GRCh38: 5:13866223-13866223
7 DNAH5 NM_001369.2(DNAH5):c.3139G>A (p.Gly1047Arg) SNV Pathogenic 39652 rs751785066 GRCh37: 5:13883048-13883048
GRCh38: 5:13882939-13882939
8 DNAH5 NM_001369.2(DNAH5):c.5130dup (p.Arg1711fs) Duplication Pathogenic 6481 rs1580543863 GRCh37: 5:13845086-13845087
GRCh38: 5:13844977-13844978
9 DNAH5 GRCh37/hg19 5p15.2(chr5:13844711-13845454) copy number loss Pathogenic 915986 GRCh37: 5:13844711-13845454
GRCh38:
10 DNAH5 NM_001369.3(DNAH5):c.9606-136_10101+1204delinsTTA Indel Pathogenic 869386 GRCh37: 5:13764881-13769860
GRCh38: 5:13764772-13769751
11 DNAH5 NM_001369.3(DNAH5):c.12907C>T (p.Gln4303Ter) SNV Pathogenic 1027908 GRCh37: 5:13716598-13716598
GRCh38: 5:13716489-13716489
12 DNAH5 NM_001369.2(DNAH5):c.2261dup (p.Met754fs) Duplication Pathogenic 39649 rs672601333 GRCh37: 5:13894928-13894929
GRCh38: 5:13894819-13894820
13 DNAH5 NM_001369.2(DNAH5):c.5059C>T (p.Gln1687Ter) SNV Pathogenic 576377 rs1188507108 GRCh37: 5:13850816-13850816
GRCh38: 5:13850707-13850707
14 DNAH5 NM_001369.2(DNAH5):c.9124C>T (p.Arg3042Ter) SNV Pathogenic 643375 rs760595654 GRCh37: 5:13776797-13776797
GRCh38: 5:13776688-13776688
15 DNAH5 NM_001369.2(DNAH5):c.5118C>G (p.Tyr1706Ter) SNV Pathogenic 454780 rs1554074565 GRCh37: 5:13845099-13845099
GRCh38: 5:13844990-13844990
16 DNAH5 NM_001369.2(DNAH5):c.10815del (p.Pro3606fs) Deletion Pathogenic 65636 rs397515540 GRCh37: 5:13753399-13753399
GRCh38: 5:13753290-13753290
17 DNAH5 NM_001369.2(DNAH5):c.4348C>T (p.Gln1450Ter) SNV Pathogenic 208992 rs771663107 GRCh37: 5:13865784-13865784
GRCh38: 5:13865675-13865675
18 DNAH5 NM_001369.2(DNAH5):c.10384C>T (p.Gln3462Ter) SNV Pathogenic 238953 rs571919972 GRCh37: 5:13758990-13758990
GRCh38: 5:13758881-13758881
19 DNAH5 NM_001369.2(DNAH5):c.13486C>T (p.Arg4496Ter) SNV Pathogenic 407248 rs200901816 GRCh37: 5:13701398-13701398
GRCh38: 5:13701289-13701289
20 DNAH5 NM_001369.3(DNAH5):c.11725C>T SNV Pathogenic 407242 rs1060501464 GRCh37: 5:13735276-13735276
GRCh38: 5:13735167-13735167
21 DNAH5 NM_001369.2(DNAH5):c.5710-2A>G SNV Pathogenic 454788 rs548521732 GRCh37: 5:13839639-13839639
GRCh38: 5:13839530-13839530
22 DNAH5 NM_001369.2(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) Deletion Pathogenic 454808 rs755136231 GRCh37: 5:13792104-13792111
GRCh38: 5:13791995-13792002
23 DNAH5 NM_001369.2(DNAH5):c.5563dup (p.Ile1855fs) Duplication Pathogenic 407241 rs752925056 GRCh37: 5:13841160-13841161
GRCh38: 5:13841051-13841052
24 DNAH5 NM_001369.2(DNAH5):c.13458dup (p.Asn4487Ter) Duplication Pathogenic 350995 rs775696136 GRCh37: 5:13701425-13701426
GRCh38: 5:13701316-13701317
25 DNAH5 NM_001369.2(DNAH5):c.5503C>T (p.Gln1835Ter) SNV Pathogenic 372356 rs761622153 GRCh37: 5:13841221-13841221
GRCh38: 5:13841112-13841112
26 DNAH5 NM_001369.2(DNAH5):c.6037C>T (p.Arg2013Ter) SNV Pathogenic/Likely pathogenic 454789 rs1273352530 GRCh37: 5:13830730-13830730
GRCh38: 5:13830621-13830621
27 DNAH5 NM_001369.2(DNAH5):c.12617G>A (p.Trp4206Ter) SNV Pathogenic/Likely pathogenic 557901 rs372118787 GRCh37: 5:13717512-13717512
GRCh38: 5:13717403-13717403
28 DNAH5 NM_001369.2(DNAH5):c.1427_1428del (p.Phe476fs) Deletion Likely pathogenic 555559 rs774493427 GRCh37: 5:13913960-13913961
GRCh38: 5:13913851-13913852
29 DNAH5 NM_001369.2(DNAH5):c.6763C>T (p.Arg2255Ter) SNV Likely pathogenic 454795 rs745918507 GRCh37: 5:13820533-13820533
GRCh38: 5:13820424-13820424
30 DNAH5 NM_001369.2(DNAH5):c.2224C>T (p.Arg742Ter) SNV Likely pathogenic 454757 rs776686983 GRCh37: 5:13900350-13900350
GRCh38: 5:13900241-13900241
31 DNAH5 NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) SNV Likely pathogenic 228251 rs753614861 GRCh37: 5:13830135-13830135
GRCh38: 5:13830026-13830026
32 DNAH5 NM_001369.3(DNAH5):c.11028+2T>C SNV Likely pathogenic 993030 GRCh37: 5:13752241-13752241
GRCh38: 5:13752132-13752132
33 DNAH5 NM_001369.2(DNAH5):c.4643T>C (p.Leu1548Pro) SNV Likely pathogenic 869371 GRCh37: 5:13862810-13862810
GRCh38: 5:13862701-13862701
34 DNAH5 NM_001369.2(DNAH5):c.9365del (p.Ala3121_Leu3122insTer) Deletion Likely pathogenic 225341 rs1060501460 GRCh37: 5:13776556-13776556
GRCh38: 5:13776447-13776447
35 DNAH5 SNV Likely pathogenic 545546 GRCh37: 5:13719144-13719144
GRCh38:
36 DNAH5 NM_001369.2(DNAH5):c.5177T>C (p.Leu1726Pro) SNV Likely pathogenic 369664 rs138890576 GRCh37: 5:13845040-13845040
GRCh38: 5:13844931-13844931
37 DNAH5 NM_001369.2(DNAH5):c.8030G>A (p.Arg2677Gln) SNV Likely pathogenic 286676 rs886043448 GRCh37: 5:13793818-13793818
GRCh38: 5:13793709-13793709
38 DNAH5 NM_001369.2(DNAH5):c.7752+10T>C SNV Conflicting interpretations of pathogenicity 197541 rs149460805 GRCh37: 5:13809143-13809143
GRCh38: 5:13809034-13809034
39 DNAH5 NM_001369.2(DNAH5):c.8396G>A (p.Arg2799Gln) SNV Conflicting interpretations of pathogenicity 869380 GRCh37: 5:13792155-13792155
GRCh38: 5:13792046-13792046
40 DNAH5 NM_001369.2(DNAH5):c.3514C>A (p.Gln1172Lys) SNV Conflicting interpretations of pathogenicity 163152 rs141168110 GRCh37: 5:13871757-13871757
GRCh38: 5:13871648-13871648
41 DNAH5 NM_001369.2(DNAH5):c.1730G>C (p.Arg577Thr) SNV Conflicting interpretations of pathogenicity 65637 rs397515541 GRCh37: 5:13902162-13902162
GRCh38: 5:13902053-13902053
42 DNAH5 NM_001369.2(DNAH5):c.8765G>A (p.Arg2922His) SNV Uncertain significance 351049 rs148539877 GRCh37: 5:13786343-13786343
GRCh38: 5:13786234-13786234
43 DNAH5 NM_001369.2(DNAH5):c.13072C>T (p.Arg4358Trp) SNV Uncertain significance 351006 rs753960777 GRCh37: 5:13714567-13714567
GRCh38: 5:13714458-13714458
44 DNAH5 NM_001369.2(DNAH5):c.1644+12A>G SNV Uncertain significance 258004 rs201116549 GRCh37: 5:13911483-13911483
GRCh38: 5:13911374-13911374
45 DNAH5 NM_001369.2(DNAH5):c.11571-9A>G SNV Uncertain significance 257982 rs779715252 GRCh37: 5:13735439-13735439
GRCh38: 5:13735330-13735330
46 DNAH5 NM_001369.2(DNAH5):c.1475C>A (p.Thr492Lys) SNV Uncertain significance 351210 rs189145014 GRCh37: 5:13913913-13913913
GRCh38: 5:13913804-13913804
47 DNAH5 NM_001369.2(DNAH5):c.6791G>A (p.Ser2264Asn) SNV Uncertain significance 351068 rs78484669 GRCh37: 5:13820505-13820505
GRCh38: 5:13820396-13820396
48 DNAH5 NM_001369.2(DNAH5):c.11583C>A (p.Ser3861Arg) SNV Uncertain significance 381547 rs576096758 GRCh37: 5:13735418-13735418
GRCh38: 5:13735309-13735309
49 DNAH5 NM_001369.2(DNAH5):c.12842T>C (p.Phe4281Ser) SNV Uncertain significance 351010 rs886059964 GRCh37: 5:13716663-13716663
GRCh38: 5:13716554-13716554
50 DNAH5 NM_001369.3(DNAH5):c.2581C>T (p.Leu861Phe) SNV Uncertain significance 1027909 GRCh37: 5:13886235-13886235
GRCh38: 5:13886126-13886126

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 3:

72 (show all 12)
# Symbol AA change Variation ID SNP ID
1 DNAH5 p.Gly3519Arg VAR_019608 rs79967166
2 DNAH5 p.Arg1716Leu VAR_030705 rs74799487
3 DNAH5 p.Ser2264Asn VAR_030706 rs78484669
4 DNAH5 p.Glu2347Lys VAR_030707
5 DNAH5 p.Arg2501Pro VAR_030708 rs78853309
6 DNAH5 p.Phe2843Ser VAR_030709 rs77377082
7 DNAH5 p.Trp3409Ser VAR_030710 rs755407407
8 DNAH5 p.Ser3843Leu VAR_030711 rs78346432
9 DNAH5 p.Gly4205Val VAR_030712 rs79185772
10 DNAH5 p.Arg1454Gln VAR_072469 rs542708170
11 DNAH5 p.Ala2881Gly VAR_072470 rs727502973
12 DNAH5 p.Asp3605Asn VAR_072471

Expression for Ciliary Dyskinesia, Primary, 3

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 3.

Pathways for Ciliary Dyskinesia, Primary, 3

GO Terms for Ciliary Dyskinesia, Primary, 3

Sources for Ciliary Dyskinesia, Primary, 3

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