MCID: CLR131
MIFTS: 55

Ciliary Dyskinesia, Primary, 1

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 1

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 1:

Name: Ciliary Dyskinesia, Primary, 1 57 75
Cild1 57 12 75
Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus 57 13
Kartagener Syndrome 75 73
Pcd 57 75
Primary Ciliary Dyskinesia 1 with or Without Situs Inversus 12
Dextrocardia-Bronchiectasis-Sinusitis Syndrome 75
Primary Ciliary Dyskinesia Kartagener Type 75
Immotile Cilia Syndrome Kartagener Type 75
Dyskinesia, Ciliary, Primary, Type 1 40
Immotile Cilia Syndrome; Ics 57
Primary Ciliary Dyskinesia 1 12
Primary Ciliary Dyskinesia 75
Ciliary Motility Disorders 73
Polynesian Bronchiectasis 57
Immotile Cilia Syndrome 1 75
Immotile Cilia Syndrome 57
Siewert Syndrome 75
Immotile Cilia 29
Ics1 75
Ktgs 75
Ics 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
approximately 50% of patients have situs inversus


HPO:

32
ciliary dyskinesia, primary, 1:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 1

UniProtKB/Swiss-Prot : 75 Ciliary dyskinesia, primary, 1: 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. Kartagener syndrome: An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera).

MalaCards based summary : Ciliary Dyskinesia, Primary, 1, also known as cild1, is related to primary ciliary dyskinesia and kartagener syndrome, and has symptoms including headache An important gene associated with Ciliary Dyskinesia, Primary, 1 is DNAI1 (Dynein Axonemal Intermediate Chain 1). The drugs Azithromycin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include Primitive Streak, lung and heart, and related phenotypes are sinusitis and chronic otitis media

OMIM : 57 Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus (270100), 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). (244400)

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has material basis in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.

Related Diseases for Ciliary Dyskinesia, Primary, 1

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, Due to Transposition of Ciliary Microtubules

Diseases related to Ciliary Dyskinesia, Primary, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 primary ciliary dyskinesia 29.8 ARMC4 CCDC114 CCDC40 DNAH5 DNAI1 DNAI2
2 kartagener syndrome 24.3 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 CCNO
3 congenital disorder of glycosylation, type ic 12.3
4 pseudohypoparathyroidism, type ic 12.3
5 cutis laxa, autosomal recessive, type ic 12.1
6 glycogen storage disease ic 12.1
7 interstitial cystitis 12.1
8 neuropathy, hereditary sensory and autonomic, type ic 12.1
9 usher syndrome, type ic 12.1
10 amelogenesis imperfecta, type ic 12.0
11 lymphedema, hereditary, ic 12.0
12 isolated focal cortical dysplasia type ic 11.9
13 iridocorneal endothelial syndrome 11.9
14 ciliary dyskinesia, primary, 19 11.8
15 alg6-congenital disorder of glycosylation 11.7
16 ciliary dyskinesia, primary, 13 11.7
17 ciliary dyskinesia, primary, 20 11.7
18 paraneoplastic cerebellar degeneration 11.6
19 premature centromere division 11.3
20 charcot-marie-tooth disease, demyelinating, type 1c 11.2
21 myasthenic syndrome, congenital, 5 11.2
22 ichthyosis--cheek--eyebrow syndrome 11.1
23 hyperphenylalaninemia due to dehydratase deficiency 11.1
24 corneal endothelial dystrophy 11.0
25 cogan-reese syndrome 11.0
26 convulsions, familial infantile, with paroxysmal choreoathetosis 11.0
27 essential iris atrophy 11.0
28 muscular dystrophy, limb-girdle, type 1c 11.0
29 autosomal dominant limb-girdle muscular dystrophy type 1c 11.0
30 ciliary dyskinesia, primary, 36, x-linked 10.8
31 ciliary dyskinesia, primary, 14 10.8
32 ciliary dyskinesia, primary, 15 10.8
33 ciliary dyskinesia, primary, 16 10.8
34 ciliary dyskinesia, primary, 17 10.8
35 ciliary dyskinesia, primary, 21 10.8
36 ciliary dyskinesia, primary, 28 10.8
37 ciliary dyskinesia, primary, 32 10.8
38 ciliary dyskinesia, primary, 33 10.8
39 ciliary dyskinesia, primary, 34 10.8
40 ciliary dyskinesia, primary, 35 10.8
41 migraine with or without aura 1 10.8
42 navicular bone, accessory 10.8
43 congenital disorder of glycosylation, type ib 10.8
44 tendinitis 10.8
45 joint disorders 10.8
46 pica disease 10.8
47 diarrhea 10.8
48 cholera 10.8
49 bursitis 10.8
50 persistent genital arousal disorder 10.8

Graphical network of the top 20 diseases related to Ciliary Dyskinesia, Primary, 1:



Diseases related to Ciliary Dyskinesia, Primary, 1

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
chronic otitis media
conductive deafness

AbdomenSpleen:
asplenia

Head And Neck Nose:
anosmia
rhinitis
nasal polyps

Respiratory Lung:
pneumonia

Head And Neck Head:
chronic sinusitis
poorly aerated mastoids
absence of frontal sinuses

Laboratory Abnormalities:
immotile cilia

GenitourinaryInternal GenitaliaMale:
infertility
immotile sperm
absent or abnormal dynein arms of sperm and respiratory epithelial cilia by electron microscopy

Cardiovascular Heart:
dextrocardia

Respiratory Airways:
bronchiectasis
absent or abnormal dynein arms of sperm and respiratory epithelial cilia by electron microscopy

Neurologic Central Nervous System:
communicating hydrocephalus
headaches

Abdomen:
situs inversus

Head And Neck Eyes:
corneal abnormalities


Clinical features from OMIM:

244400

Human phenotypes related to Ciliary Dyskinesia, Primary, 1:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 sinusitis 32 HP:0000246
2 chronic otitis media 32 HP:0000389
3 conductive hearing impairment 32 HP:0000405
4 anosmia 32 HP:0000458
5 abnormal cornea morphology 32 HP:0000481
6 communicating hydrocephalus 32 HP:0001334
7 situs inversus totalis 32 HP:0001696
8 asplenia 32 HP:0001746
9 pneumonia 32 HP:0002090
10 bronchiectasis 32 HP:0002110
11 chronic rhinitis 32 HP:0002257
12 headache 32 HP:0002315
13 absent frontal sinuses 32 HP:0002688
14 male infertility 32 HP:0003251
15 abnormal respiratory motile cilium morphology 32 HP:0005938
16 chronic sinusitis 32 HP:0011109
17 immotile cilia 32 HP:0012263
18 ciliary dyskinesia 32 HP:0012265
19 nasal polyposis 32 HP:0100582

UMLS symptoms related to Ciliary Dyskinesia, Primary, 1:


headache

MGI Mouse Phenotypes related to Ciliary Dyskinesia, Primary, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.65 ARMC4 CCDC151 CCDC40 CCNO DNAH5 DNAI1
2 respiratory system MP:0005388 9.32 CCDC151 CCDC40 CCNO DNAH5 DNAI1 DNAI2

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 1

Drugs for Ciliary Dyskinesia, Primary, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 3 83905-01-5 55185 447043
2 Pharmaceutical Solutions Phase 2
3
Nitric Oxide Approved ,Not Applicable 10102-43-9 145068 160954
4
Menthol Approved Not Applicable 2216-51-5 16666
5 Anti-Asthmatic Agents ,Not Applicable
6 Antioxidants ,Not Applicable
7 Autonomic Agents ,Not Applicable
8 Bronchodilator Agents ,Not Applicable
9 Endothelium-Dependent Relaxing Factors ,Not Applicable
10 Neurotransmitter Agents ,Not Applicable
11 Peripheral Nervous System Agents ,Not Applicable
12 Protective Agents ,Not Applicable
13 Respiratory System Agents ,Not Applicable
14 Vasodilator Agents ,Not Applicable
15 Albuterol
16 Liver Extracts
17 Antibodies
18 Antibodies, Monoclonal
19 Immunoglobulins

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 The Efficacy of Azithromycin in Treating Children With Non Cystic Fibrosis Bronchiectasis Active, not recruiting NCT02531984 Phase 3 Azithromycin
2 Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia Active, not recruiting NCT02871778 Phase 2 VX-371;Hypertonic Saline;Placebo (0.17% saline);Ivacaftor
3 Early Detection and Characterization of Primary Ciliary Dyskinesia Unknown status NCT01070914
4 Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide Unknown status NCT00739817
5 Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO) Unknown status NCT00686309
6 Diagnosis of Primary Ciliary Dyskinesia Completed NCT00783887
7 Otolith Function in Patients With Primary Ciliary Dyskinesia Completed NCT01246258
8 Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia Completed NCT01155115 Not Applicable
9 Genetic Study of Patients With Primary Ciliary Dyskinesia Completed NCT00005650
10 NIOX VERO Nasal Application in Primary Ciliary Dyskinesia Completed NCT02622061
11 Dyskinesia, Heterotaxy and Congenital Heart Disease Completed NCT00608556
12 Determination of Normal Values of Nasal Nitric Oxide in Adults Completed NCT02133547
13 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease Completed NCT00368446
14 A Prospective Study Measuring Exhaled Nitric Oxide in Exercise-Induced Asthma Completed NCT01097954
15 Electrical Impedance Tomography of Lung in Child and Young Age Completed NCT02290535
16 MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia Recruiting NCT03279965
17 Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia Recruiting NCT03370029
18 International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD) Recruiting NCT02419365
19 International Primary Ciliary Dyskinesia Cohort Recruiting NCT03517865
20 Genetics of Primary Ciliary Dyskinesia Recruiting NCT02389049
21 Registry for Primary Ciliary Dyskinesia Recruiting NCT03271840
22 Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease Recruiting NCT00807482
23 Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia Recruiting NCT03494894
24 High Resolution Micro OCT Imaging Recruiting NCT03256773
25 Natural History of Bronchiectasis Recruiting NCT00943514
26 Multiple Breath Washout, a Clinimetric Dataset Recruiting NCT03320382
27 Observational Study of Characteristics, Treatment and Outcomes With Severe Asthma in the United States (CHRONICLE) Recruiting NCT03373045
28 Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease Active, not recruiting NCT00722878
29 Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents Active, not recruiting NCT00450918
30 Rare Genetic Disorders of the Breathing Airways Active, not recruiting NCT00323167
31 Registry Study on Primary Ciliary Dyskinesia in Chinese Children Not yet recruiting NCT02704455
32 In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry Not yet recruiting NCT02699177
33 The Efficacy of Nasal Steroids in Treatment of Otitis Media With Effusion: Acomparative Study Not yet recruiting NCT03491098 Early Phase 1 Mometasone Furoate spray;prednisolone sodium phosphate 15mg;hypertonic sea water solution spray
34 Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia Withdrawn NCT01929356 Not Applicable
35 Exhaled Nitric Oxide Levels in Infants and Young Children Infected With RSV or Other Viral Infections Withdrawn NCT01098227

Search NIH Clinical Center for Ciliary Dyskinesia, Primary, 1

Genetic Tests for Ciliary Dyskinesia, Primary, 1

Genetic tests related to Ciliary Dyskinesia, Primary, 1:

# Genetic test Affiliating Genes
1 Immotile Cilia 29

Anatomical Context for Ciliary Dyskinesia, Primary, 1

MalaCards organs/tissues related to Ciliary Dyskinesia, Primary, 1:

41
Lung, Heart, Liver, Cervix, Pancreas, Kidney
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Ciliary Dyskinesia, Primary, 1:
# Tissue Anatomical CompartmentCell Relevance
1 Primitive Streak Primitive Streak Affected by disease

Publications for Ciliary Dyskinesia, Primary, 1

Articles related to Ciliary Dyskinesia, Primary, 1:

(show top 50) (show all 83)
# Title Authors Year
1
Retinal pigment epithelium changes in Kartagener syndrome. ( 29511746 )
2018
2
Coincidence of Polysplenia, Kartagener Syndrome, Dorsal Pancreas Agenesis, and Polycystic Kidney Disease in an Adult. ( 28638261 )
2017
3
A Full-Blown Case of Bronchiectasis: Kartagener Syndrome Without Infertility Diagnosed Later in Life. ( 29152435 )
2017
4
When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF. ( 28952366 )
2017
5
Kartagener Syndrome. ( 28402566 )
2017
6
Ciliary Dysfunction (Kartagener Syndrome, Primary Ciliary Dyskinesia) ( 28846277 )
2017
7
Renal Amyloidosis Associated With Kartagener Syndrome in a Dog. ( 28992906 )
2017
8
Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. ( 27988889 )
2016
9
Outcomes of lung transplantation for primary ciliary dyskinesia and Kartagener syndrome. ( 27746084 )
2016
10
A case of Kartagener syndrome with rhinolalia clausa. ( 27375831 )
2016
11
Pitfalls and Challenges of Lung Transplant in a Patient With Kartagener Syndrome and Scoliosis. ( 26976528 )
2016
12
A case report of kartagener syndrome. ( 27728632 )
2016
13
Left middle lobectomy for bronchiectasis in a patient with Kartagener syndrome: a case report. ( 26960394 )
2016
14
A case of Kartagener syndrome. ( 27728621 )
2016
15
Deficiency of creatine kinase in a ST-segment elevation myocardial infarction patient with Kartagener syndrome. ( 25576715 )
2015
16
Adenocarcinoma of the Cervix Uteri and Endometrium Combined With the Kartagener Syndrome on FDG PET/CT. ( 26284775 )
2015
17
Kartagener syndrome. ( 25633235 )
2015
18
Anaesthetic Management of a Patient with Synchronous Kartagener Syndrome and Biliary Atresia. ( 27366497 )
2015
19
Healthy twin live-birth after ionophore treatment in a case of theophylline-resistant Kartagener syndrome. ( 25956262 )
2015
20
Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome. ( 26250371 )
2015
21
Trans-Umbilical Single Incision Laparoscopic Sleeve Gastrectomy in a Patient with Situs Inversus Totalis and Kartagener Syndrome: Video Report. ( 26227396 )
2015
22
Kartagener syndrome: a not so rare phenomenon. ( 25672196 )
2014
23
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. ( 24533546 )
2014
24
Manifold embryonic ciliary functions in the genesis of kartagener syndrome and heterotaxy. ( 25367485 )
2014
25
Primary ciliary dyskinesia diagnosed by electron microscopy in one case of Kartagener syndrome. ( 25178347 )
2014
26
Re: Kartagener syndrome with focal segmental glomerulosclerosis. ( 25001147 )
2014
27
Left video-assisted thoracoscopic surgery esophagectomy in a patient with situs inversus totalis and Kartagener syndrome. ( 25087796 )
2014
28
Mycobacterium abscessus Lung Disease in a Patient with Kartagener Syndrome. ( 25309609 )
2014
29
Adenosquamous carcinoma of paranasal sinuses and Kartagener syndrome: an unusual combination. ( 24718008 )
2014
30
Kartagener syndrome with focal segmental glomerulosclerosis. ( 24241099 )
2013
31
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. ( 23563507 )
2013
32
Right bochdalek hernia associated with kartagener syndrome: developmental and clinical observations. ( 25755941 )
2013
33
An unusual regression of the symptoms of Kartagener syndrome. ( 22551925 )
2013
34
Endoscopic sinus surgery for treatment of kartagener syndrome: a case report. ( 25207108 )
2013
35
Kartagener syndrome. ( 21372103 )
2012
36
Lung transplantation without the use of cardiopulmonary bypass in a patient with Kartagener syndrome. ( 23288129 )
2012
37
Pulmonary arterial hypertension in a Kartagener syndrome patient: treatment with beraprost sodium. ( 22104985 )
2012
38
Kartagener syndrome associated with mesangioproliferative glomerulonephritis. ( 22595222 )
2012
39
An unusual case of Kartagener syndrome. ( 21497979 )
2012
40
Kartagener syndrome. ( 20562592 )
2011
41
Birth of a healthy boy using fresh testicular sperm in a patient with Klinefelter syndrome combined with Kartagener syndrome. ( 21718985 )
2011
42
Bronchiolitis as a feature of kartagener syndrome: a case report. ( 23169026 )
2011
43
Kartagener syndrome. ( 21403791 )
2011
44
Diagnosis: Kartagener syndrome. ( 20697168 )
2010
45
Primary ciliary dyskinesia: Kartagener syndrome with central giant cell granuloma. A case report. ( 20868986 )
2010
46
Amyotrophic lateral sclerosis in a patient with Kartagener syndrome. ( 20550487 )
2010
47
Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review. ( 20796272 )
2010
48
Kartagener syndrome: a rare genetic disorder. ( 19529061 )
2009
49
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. ( 19606528 )
2009
50
Kartagener syndrome in a Nigerian African--a case report and literature review. ( 20120152 )
2009

Variations for Ciliary Dyskinesia, Primary, 1

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 1:

75
# Symbol AA change Variation ID SNP ID
1 DNAI1 p.Gly515Ser VAR_016775 rs79833450

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 1:

6
(show top 50) (show all 132)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAAF1 NM_178452.5(DNAAF1): c.1349dupC (p.Pro451Alafs) duplication Pathogenic rs397515339 GRCh37 Chromosome 16, 84203783: 84203783
2 DNAAF1 NM_178452.5(DNAAF1): c.1349dupC (p.Pro451Alafs) duplication Pathogenic rs397515339 GRCh38 Chromosome 16, 84170177: 84170177
3 DNAAF1 NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg) single nucleotide variant Pathogenic rs267607227 GRCh37 Chromosome 16, 84188353: 84188353
4 DNAAF1 NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg) single nucleotide variant Pathogenic rs267607227 GRCh38 Chromosome 16, 84154748: 84154748
5 DNAAF2 NM_018139.2(DNAAF2): c.23C> A (p.Ser8Ter) single nucleotide variant Pathogenic rs137853191 GRCh37 Chromosome 14, 50101845: 50101845
6 DNAAF2 NM_018139.2(DNAAF2): c.23C> A (p.Ser8Ter) single nucleotide variant Pathogenic rs137853191 GRCh38 Chromosome 14, 49635127: 49635127
7 DNAI2 NM_023036.4(DNAI2): c.346-3T> G (p.Ile116GlyfsTer54) single nucleotide variant Pathogenic rs397515358 GRCh37 Chromosome 17, 72283113: 72283113
8 DNAI2 NM_023036.4(DNAI2): c.346-3T> G (p.Ile116GlyfsTer54) single nucleotide variant Pathogenic rs397515358 GRCh38 Chromosome 17, 74286974: 74286974
9 DNAI1 NM_012144.3(DNAI1): c.48+2dupT (p.Ser17ValfsTer12) duplication Pathogenic rs397515363 GRCh37 Chromosome 9, 34459053: 34459053
10 DNAI1 NM_012144.3(DNAI1): c.48+2dupT (p.Ser17ValfsTer12) duplication Pathogenic rs397515363 GRCh38 Chromosome 9, 34459055: 34459055
11 DNAI1 NM_012144.3(DNAI1): c.282_283insAATA (p.Gly95Asnfs) insertion Pathogenic rs606231164 GRCh38 Chromosome 9, 34489343: 34489344
12 DNAI1 NM_012144.3(DNAI1): c.282_283insAATA (p.Gly95Asnfs) insertion Pathogenic rs606231164 GRCh37 Chromosome 9, 34489341: 34489342
13 DNAI1 NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser) single nucleotide variant Likely pathogenic rs79833450 GRCh37 Chromosome 9, 34513163: 34513163
14 DNAI1 NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser) single nucleotide variant Likely pathogenic rs79833450 GRCh38 Chromosome 9, 34513165: 34513165
15 DNAI1 NM_012144.3(DNAI1): c.1658_1669delCCAAGGTCTTCA (p.Thr553_Phe556del) deletion Pathogenic rs606231165 GRCh38 Chromosome 9, 34514482: 34514493
16 DNAI1 NM_012144.3(DNAI1): c.1658_1669delCCAAGGTCTTCA (p.Thr553_Phe556del) deletion Pathogenic rs606231165 GRCh37 Chromosome 9, 34514480: 34514491
17 DNAL1 NM_031427.3(DNAL1): c.449A> G (p.Asn150Ser) single nucleotide variant Pathogenic rs387907021 GRCh37 Chromosome 14, 74156135: 74156135
18 DNAL1 NM_031427.3(DNAL1): c.449A> G (p.Asn150Ser) single nucleotide variant Pathogenic rs387907021 GRCh38 Chromosome 14, 73689432: 73689432
19 DNAAF3 NM_001256714.1(DNAAF3): c.386T> C (p.Leu129Pro) single nucleotide variant Pathogenic rs387907151 GRCh37 Chromosome 19, 55677272: 55677272
20 DNAAF3 NM_001256714.1(DNAAF3): c.386T> C (p.Leu129Pro) single nucleotide variant Pathogenic rs387907151 GRCh38 Chromosome 19, 55165904: 55165904
21 DNAAF3 NM_001256714.1(DNAAF3): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs387907152 GRCh37 Chromosome 19, 55676795: 55676795
22 DNAAF3 NM_001256714.1(DNAAF3): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs387907152 GRCh38 Chromosome 19, 55165427: 55165427
23 DNAAF3 NM_001256714.1(DNAAF3): c.825dupT (p.Val276Cysfs) duplication Pathogenic rs397515395 GRCh37 Chromosome 19, 55673053: 55673053
24 DNAAF3 NM_001256714.1(DNAAF3): c.825dupT (p.Val276Cysfs) duplication Pathogenic rs397515395 GRCh38 Chromosome 19, 55161685: 55161685
25 CCDC103 NM_213607.2(CCDC103): c.383dupG (p.Pro129Serfs) duplication Pathogenic rs587776910 GRCh37 Chromosome 17, 42979839: 42979839
26 CCDC103 NM_213607.2(CCDC103): c.383dupG (p.Pro129Serfs) duplication Pathogenic rs587776910 GRCh38 Chromosome 17, 44902471: 44902471
27 CCDC103 NM_213607.2(CCDC103): c.461A> C (p.His154Pro) single nucleotide variant Pathogenic rs145457535 GRCh37 Chromosome 17, 42979917: 42979917
28 CCDC103 NM_213607.2(CCDC103): c.461A> C (p.His154Pro) single nucleotide variant Pathogenic rs145457535 GRCh38 Chromosome 17, 44902549: 44902549
29 CCDC114 NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr) single nucleotide variant Pathogenic rs147718607 GRCh37 Chromosome 19, 48807210: 48807210
30 CCDC114 NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr) single nucleotide variant Pathogenic rs147718607 GRCh38 Chromosome 19, 48303953: 48303953
31 HYDIN NM_001270974.2(HYDIN): c.3985G> T (p.Val1329Leu) single nucleotide variant Pathogenic rs397515413 GRCh37 Chromosome 16, 71022036: 71022036
32 HYDIN NM_001270974.2(HYDIN): c.3985G> T (p.Val1329Leu) single nucleotide variant Pathogenic rs397515413 GRCh38 Chromosome 16, 70988133: 70988133
33 HYDIN NM_001270974.2(HYDIN): c.922A> T (p.Lys308Ter) single nucleotide variant Pathogenic rs397515414 GRCh37 Chromosome 16, 71171175: 71171175
34 HYDIN NM_001270974.2(HYDIN): c.922A> T (p.Lys308Ter) single nucleotide variant Pathogenic rs397515414 GRCh38 Chromosome 16, 71137272: 71137272
35 DRC1 NM_145038.4(DRC1): c.2056A> T (p.Lys686Ter) single nucleotide variant Pathogenic rs587776997 GRCh37 Chromosome 2, 26677651: 26677651
36 DRC1 NM_145038.4(DRC1): c.2056A> T (p.Lys686Ter) single nucleotide variant Pathogenic rs587776997 GRCh38 Chromosome 2, 26454783: 26454783
37 DRC1 NM_145038.4(DRC1): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic/Likely pathogenic rs142371860 GRCh37 Chromosome 2, 26644264: 26644264
38 DRC1 NM_145038.4(DRC1): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic/Likely pathogenic rs142371860 GRCh38 Chromosome 2, 26421396: 26421396
39 DNAI1 NM_012144.3(DNAI1): c.1490G> A (p.Gly497Asp) single nucleotide variant Pathogenic rs376252276 GRCh37 Chromosome 9, 34513110: 34513110
40 DNAI1 NM_012144.3(DNAI1): c.1490G> A (p.Gly497Asp) single nucleotide variant Pathogenic rs376252276 GRCh38 Chromosome 9, 34513112: 34513112
41 DNAI1 NM_012144.3(DNAI1): c.2001+1G> A (p.Ala607_Lys667del) single nucleotide variant Pathogenic rs397515563 GRCh37 Chromosome 9, 34517466: 34517466
42 DNAI1 NM_012144.3(DNAI1): c.2001+1G> A (p.Ala607_Lys667del) single nucleotide variant Pathogenic rs397515563 GRCh38 Chromosome 9, 34517468: 34517468
43 DNAI2 NM_023036.4(DNAI2): c.1494+1G> C (p.Val450_Ser498del) single nucleotide variant Pathogenic rs397515565 GRCh37 Chromosome 17, 72306303: 72306303
44 DNAI2 NM_023036.4(DNAI2): c.1494+1G> C (p.Val450_Ser498del) single nucleotide variant Pathogenic rs397515565 GRCh38 Chromosome 17, 74310164: 74310164
45 ZMYND10 NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly) single nucleotide variant Pathogenic rs138815960 GRCh37 Chromosome 3, 50382964: 50382964
46 ZMYND10 NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly) single nucleotide variant Pathogenic rs138815960 GRCh38 Chromosome 3, 50345533: 50345533
47 ZMYND10 NM_015896.3(ZMYND10): c.797T> C (p.Leu266Pro) single nucleotide variant Likely pathogenic rs200913791 GRCh37 Chromosome 3, 50379904: 50379904
48 ZMYND10 NM_015896.3(ZMYND10): c.797T> C (p.Leu266Pro) single nucleotide variant Likely pathogenic rs200913791 GRCh38 Chromosome 3, 50342473: 50342473
49 ARMC4 NM_018076.4(ARMC4): c.2780T> G (p.Leu927Trp) single nucleotide variant Pathogenic rs587777047 GRCh37 Chromosome 10, 28151382: 28151382
50 ARMC4 NM_018076.4(ARMC4): c.2780T> G (p.Leu927Trp) single nucleotide variant Pathogenic rs587777047 GRCh38 Chromosome 10, 27862453: 27862453

Expression for Ciliary Dyskinesia, Primary, 1

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 1.

Pathways for Ciliary Dyskinesia, Primary, 1

GO Terms for Ciliary Dyskinesia, Primary, 1

Cellular components related to Ciliary Dyskinesia, Primary, 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.83 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 DNAH5
2 microtubule GO:0005874 9.78 DNAH5 DNAI1 DNAI2 DNAL1
3 motile cilium GO:0031514 9.73 CCDC103 RSPH1 RSPH4A RSPH9
4 dynein complex GO:0030286 9.67 DNAH5 DNAI1 DNAI2 DNAL1
5 outer dynein arm GO:0036157 9.65 CCDC114 DNAH5 DNAI1 DNAI2 DNAL1
6 sperm flagellum GO:0036126 9.49 DNAI2 RSPH1
7 9+2 motile cilium GO:0097729 9.46 DNAH5 RSPH9
8 axoneme GO:0005930 9.32 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 DNAH5
9 cytoplasm GO:0005737 10.31 ARMC4 CCDC103 CCDC151 CCDC40 CCNO DNAH5
10 cytoskeleton GO:0005856 10.06 ARMC4 CCDC151 DNAH5 DNAI1 DNAI2 DNAL1
11 cell projection GO:0042995 10.06 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 DNAH5

Biological processes related to Ciliary Dyskinesia, Primary, 1 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.91 ARMC4 CCDC103 CCDC151 CCNO DNAI1 DNAI2
2 cilium assembly GO:0060271 9.84 CCNO DNAH5 DNAI2 MCIDAS
3 determination of left/right symmetry GO:0007368 9.8 ARMC4 CCDC151 DNAH5 DNAI1 DNAI2 DRC1
4 flagellated sperm motility GO:0030317 9.78 CCDC40 DNAH5 DNAI1 LRRC6
5 microtubule-based movement GO:0007018 9.74 DNAH5 DNAI1 DNAI2
6 inner dynein arm assembly GO:0036159 9.73 CCDC103 CCDC40 LRRC6 ZMYND10
7 cilium movement GO:0003341 9.73 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 DNAH5
8 axoneme assembly GO:0035082 9.71 CCDC40 RSPH1 RSPH4A RSPH9
9 motile cilium assembly GO:0044458 9.65 CCDC40 LRRC6 MCIDAS RSPH9 ZMYND10
10 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.63 CCDC103 CCDC40 LRRC6
11 ventricular system development GO:0021591 9.56 ARMC4 HYDIN
12 epithelial cilium movement GO:0003351 9.55 CCDC40 DNAI1
13 axonemal dynein complex assembly GO:0070286 9.55 CCDC103 CCDC151 CCDC40 DRC1 SPAG1
14 determination of digestive tract left/right asymmetry GO:0071907 9.52 CCDC103 CCDC40
15 regulation of cilium beat frequency GO:0003356 9.51 ARMC4 CCDC40
16 multi-ciliated epithelial cell differentiation GO:1903251 9.49 CCNO MCIDAS
17 outer dynein arm assembly GO:0036158 9.32 ARMC4 CCDC103 CCDC114 CCDC151 DNAH5 DNAI1

Molecular functions related to Ciliary Dyskinesia, Primary, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 9.46 DNAH5 DNAI1 DNAI2 DNAL1
2 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.26 DNAI1 DNAI2
3 dynein light chain binding GO:0045503 9.13 DNAH5 DNAI1 DNAI2
4 dynein heavy chain binding GO:0045504 8.8 DNAI1 DNAI2 DNAL1

Sources for Ciliary Dyskinesia, Primary, 1

3 CDC
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