CILD1
MCID: CLR131
MIFTS: 58

Ciliary Dyskinesia, Primary, 1 (CILD1)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 1

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 1:

Name: Ciliary Dyskinesia, Primary, 1 56 73
Cild1 56 12 73
Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus 56 13
Primary Ciliary Dyskinesia 1 12 15
Kartagener Syndrome 73 71
Pcd 56 73
Primary Ciliary Dyskinesia 1 with or Without Situs Inversus 12
Dextrocardia-Bronchiectasis-Sinusitis Syndrome 73
Primary Ciliary Dyskinesia Kartagener Type 73
Immotile Cilia Syndrome Kartagener Type 73
Dyskinesia, Ciliary, Primary, Type 1 39
Immotile Cilia Syndrome; Ics 56
Primary Ciliary Dyskinesia 73
Ciliary Motility Disorders 71
Polynesian Bronchiectasis 56
Immotile Cilia Syndrome 1 73
Immotile Cilia Syndrome 56
Siewert Syndrome 73
Immotile Cilia 29
Ics1 73
Ktgs 73
Ics 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
ciliary dyskinesia, primary, 1:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 1

UniProtKB/Swiss-Prot : 73 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 ciliary dyskinesia, primary, 29 and ciliary dyskinesia, primary, 4, 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 Ivacaftor have been mentioned in the context of this disorder. Affiliated tissues include Primitive Streak, lung and testes, and related phenotypes are chronic otitis media and sinusitis

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.

OMIM : 56 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)

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, Primary, 38
Ciliary Dyskinesia, Primary, 39 Ciliary Dyskinesia, Primary, 40
Ciliary Dyskinesia, Primary, 41 Ciliary Dyskinesia, Primary, 42
Ciliary Dyskinesia, Primary, 43 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 966)
# Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 29 34.3 MCIDAS CCNO
2 ciliary dyskinesia, primary, 4 33.9 DNAI1 DNAH5 CCDC40 CCDC151 CCDC114 CCDC103
3 ciliary dyskinesia, primary, 6 32.7 RSPH9 RSPH4A DNAI2 DNAAF2
4 ciliary dyskinesia, primary, 10 32.6 RSPH9 RSPH4A DNAI2 DNAAF2
5 ciliary dyskinesia, primary, 9 32.6 RSPH9 RSPH4A HYDIN DNAI2 DNAAF2
6 ciliary dyskinesia, primary, 3 32.4 DNAH5 DNAH1
7 primary ciliary dyskinesia 32.1 RSPH9 RSPH4A RSPH1 MCIDAS LRRC6 HYDIN
8 dextrocardia 31.2 DNAI1 DNAH5 CCDC40 CCDC103 ARMC4
9 kartagener syndrome 30.8 RSPH9 RSPH4A RSPH1 MCIDAS LRRC6 HYDIN
10 ciliary dyskinesia, primary, 8 30.5 DNAI1 DNAH5 CCDC40 CCDC151 CCDC114 CCDC103
11 ciliary dyskinesia, primary, 7 30.3 DNAH5 DNAH1
12 bronchiectasis 30.3 RSPH9 RSPH4A RSPH1 HYDIN DNAI2 DNAI1
13 middle ear disease 29.9 RSPH9 RSPH4A DNAI2 DNAI1 DNAH5
14 situs inversus 29.2 RSPH9 RSPH4A RSPH1 LRRC6 HYDIN DNAI2
15 visceral heterotaxy 28.7 RSPH9 RSPH4A RSPH1 LRRC6 HYDIN DNAI2
16 neuropathy, hereditary sensory and autonomic, type ic 12.7
17 congenital disorder of glycosylation, type ic 12.7
18 pseudohypoparathyroidism, type ic 12.6
19 cutis laxa, autosomal recessive, type ic 12.5
20 glycogen storage disease ic 12.4
21 ciliary dyskinesia, primary, 24 12.4
22 interstitial cystitis 12.4
23 usher syndrome, type ic 12.4
24 amelogenesis imperfecta, type ic 12.3
25 hereditary lymphedema ic 12.2
26 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 12.2
27 isolated focal cortical dysplasia type ic 12.2
28 iridocorneal endothelial syndrome 12.2
29 alg6-congenital disorder of glycosylation 12.0
30 stromme syndrome 12.0
31 paraneoplastic cerebellar degeneration 12.0
32 myasthenic syndrome, congenital, 5 11.9
33 cogan-reese syndrome 11.8
34 ciliary dyskinesia, primary, 12 11.7
35 premature centromere division 11.7
36 corneal endothelial dystrophy 11.7
37 glycogen storage disease ia 11.7
38 ciliary dyskinesia with defective radial spokes 11.6
39 essential iris atrophy 11.6
40 ciliary dyskinesia with excessively long cilia 11.6
41 charcot-marie-tooth disease, demyelinating, type 1c 11.5
42 migraine with or without aura 1 11.5
43 cholera 11.5
44 diarrhea 11.5
45 ichthyosis--cheek--eyebrow syndrome 11.4
46 tendinitis 11.4
47 pica disease 11.4
48 bursitis 11.4
49 ciliary dyskinesia, primary, 2 11.4
50 ciliary dyskinesia, primary, 5 11.4

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

Human phenotypes related to Ciliary Dyskinesia, Primary, 1:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 chronic otitis media 31 HP:0000389
2 sinusitis 31 HP:0000246
3 anosmia 31 HP:0000458
4 headache 31 HP:0002315
5 conductive hearing impairment 31 HP:0000405
6 pneumonia 31 HP:0002090
7 nasal polyposis 31 HP:0100582
8 situs inversus totalis 31 HP:0001696
9 asplenia 31 HP:0001746
10 male infertility 31 HP:0003251
11 chronic sinusitis 31 HP:0011109
12 bronchiectasis 31 HP:0002110
13 communicating hydrocephalus 31 HP:0001334
14 chronic rhinitis 31 HP:0002257
15 immotile cilia 31 HP:0012263
16 abnormal respiratory motile cilium morphology 31 HP:0005938
17 absent frontal sinuses 31 HP:0002688
18 ciliary dyskinesia 31 HP:0012265
19 abnormal cornea morphology 31 HP:0000481

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
chronic otitis media
conductive deafness

Respiratory Lung:
pneumonia

Abdomen Spleen:
asplenia

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

Neurologic Central Nervous System:
communicating hydrocephalus
headaches

Abdomen:
situs inversus

Head And Neck Nose:
anosmia
rhinitis
nasal polyps

Genitourinary Internal Genitalia Male:
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

Laboratory Abnormalities:
immotile cilia

Head And Neck Eyes:
corneal abnormalities

Clinical features from OMIM:

244400

UMLS symptoms related to Ciliary Dyskinesia, Primary, 1:


headache

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 ARMC4 CCDC151 CCDC40 DNAAF2 DNAAF3 DNAH5
2 growth/size/body region MP:0005378 10.07 ARMC4 CCDC151 CCDC40 CCNO DNAAF2 DNAAF3
3 cardiovascular system MP:0005385 10.06 ARMC4 CCDC114 CCDC151 DNAAF2 DNAAF3 DNAH5
4 mortality/aging MP:0010768 9.93 ARMC4 CCDC114 CCDC151 CCDC40 CCNO DNAAF1
5 craniofacial MP:0005382 9.87 CCDC151 CCNO DNAAF1 DNAH5 DNAI1 HYDIN
6 nervous system MP:0003631 9.7 ARMC4 CCDC151 CCDC40 CCNO DNAAF1 DNAAF2
7 respiratory system MP:0005388 9.4 ARMC4 CCDC151 CCDC40 CCNO DNAAF2 DNAAF3

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 1

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 3 83905-01-5 447043 55185
2
Ivacaftor Approved Phase 2 873054-44-5 16220172
3
Nitric Oxide Approved Phase 1, Phase 2 10102-43-9 145068
4
Sodium citrate Approved, Investigational Phase 1, Phase 2 68-04-2
5
Citric acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
6 Vasodilator Agents Phase 1, Phase 2
7 Citrate Phase 1, Phase 2
8 Sildenafil Citrate Phase 1, Phase 2 171599-83-0
9 Phosphodiesterase 5 Inhibitors Phase 1, Phase 2
10 Phosphodiesterase Inhibitors Phase 1, Phase 2
11
Ethanol Approved 64-17-5 702
12
Methylprednisolone Approved, Vet_approved Early Phase 1 83-43-2 6741
13 Prednisolone acetate Approved, Vet_approved Early Phase 1 52-21-1
14
mometasone furoate Approved, Investigational, Vet_approved Early Phase 1 83919-23-7
15
Methylprednisolone hemisuccinate Approved Early Phase 1 2921-57-5
16
Prednisolone Approved, Vet_approved Early Phase 1 50-24-8 5755
17
Prednisolone phosphate Approved, Vet_approved Early Phase 1 302-25-0
18
Prednisolone hemisuccinate Experimental Early Phase 1 2920-86-7
19 Liver Extracts
20 Pharmaceutical Solutions Early Phase 1
21 Anti-Inflammatory Agents Early Phase 1
22 Gastrointestinal Agents Early Phase 1
23 Antiemetics Early Phase 1
24 Methylprednisolone Acetate Early Phase 1
25 glucocorticoids Early Phase 1
26 Dermatologic Agents Early Phase 1
27 Neuroprotective Agents Early Phase 1
28 Hormone Antagonists Early Phase 1
29 Antineoplastic Agents, Hormonal Early Phase 1
30 Anti-Allergic Agents Early Phase 1
31 Hormones Early Phase 1

Interventional clinical trials:

(show all 49)
# Name Status NCT ID Phase Drugs
1 Open Trial With Randomized Withdrawal of Treatment, to Evaluate the Efficacy of Azithromycin in the Treatment of Children With Non Cystic Fibrosis Bronchiectasis ( AZI-STOP Study ) Unknown status NCT02531984 Phase 3 Azithromycin
2 Longitudinal Study of Children With a Chronic Cough and the Impact of Gastroesophageal Reflux Withdrawn NCT00771706 Phase 3 Proton Pump Inhibitor;Placebo
3 A Phase 2a, 2-part,Randomized, Double-blind, Placebo-controlled, Incomplete Block Crossover Study to Evaluate the Safety and Efficacy of VX-371 Solution for Inhalation With and Without Oral Ivacaftor in Subjects With Primary Ciliary Dyskinesia Completed NCT02871778 Phase 2 VX-371;Hypertonic Saline;Placebo (0.17% saline);Ivacaftor
4 Sildenafil in Patients With Pulmonary Nontuberculous Mycobacterial Infection Completed NCT01853540 Phase 1, Phase 2 Sildenafil
5 Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide Unknown status NCT00739817
6 A Pilot Study to Assess the Use of MRI in the Assessment of Patients With Cystic Fibrosis and Primary Ciliary Dyskinesia Unknown status NCT03279965
7 The Israeli National Consortium for Early Detection and Characterization of Primary Ciliary Dyskinesia Unknown status NCT01070914
8 In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry Unknown status NCT02699177
9 Comparison of On-line and Off-line Measurements of Exhaled NO Unknown status NCT00686309
10 Optimising and Standardising Measurements of Inflammatory Markers in Exhaled Breath (EB) and Exhaled Breath Condensate (EBC) Unknown status NCT00983671
11 Exercise Capacity in Patients With Cystic Fibrosis vs. Non-cystic Fibrosis Bronchiectasis Unknown status NCT03147651
12 Genetic Study of Patients With Primary Ciliary Dyskinesia Completed NCT00005650
13 Molecular Diagnosis of Primary Ciliary Dyskinesia Completed NCT00783887
14 Comparison of Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children With Primary Ciliary Dyskinesia and Healthy Controls Completed NCT03370029
15 Research Genetic Testing for Primary Ciliary Dyskinesia Using a Panel of Genes Completed NCT02389049
16 Otolith Function in Patients With Primary Ciliary Dyskinesia: a Pilot Study Completed NCT01246258
17 Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests Completed NCT00323167
18 Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age Completed NCT00450918
19 Inflammatory and Microbiologic Markers in Sputum in Response to Pulmonary Exacerbation: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia Completed NCT01155115
20 A Clinical Investigation Determining the Discriminative Ability of the NIOX VERO NASAL to Differentiate Subjects With Primary Ciliary Dyskinesia From Healthy Controls Completed NCT02622061
21 Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age Completed NCT00722878
22 Ciliary Dysfunction as an Underlying Etiology Linking Primary Ciliary Dyskinesia With Heterotaxy and Complex Congenital Heart Disease Completed NCT00608556
23 Genetic Disorders of Mucociliary Clearance Completed NCT00368446
24 Determination of Normal Values of Nasal Nitric Oxide Measured With the NIOX MINO Analyzer in Adults: a Pilot Study Completed NCT02133547
25 A Prospective Study Measuring Exhaled Nitric Oxide in Exercise-Induced Asthma Completed NCT01097954
26 Cross-Sectional Characterization of Idiopathic Bronchiectasis Completed NCT01264055
27 Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia Recruiting NCT03832491
28 Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia Recruiting NCT03494894
29 Utility of PCD Diagnostics to Improve Clinical Care Recruiting NCT03704207
30 Registry for Primary Ciliary Dyskinesia: : Systematic Data Collection on Incidence, Clinical Presentation, Treatment and Course of the Disease Recruiting NCT03271840
31 Whole Genome Sequencing of Korean Patients With Idiopathic Bronchiectasis for Identification of Disease-Causing Variants Recruiting NCT03809091
32 Swiss Primary Ciliary Dyskinesia Registry Recruiting NCT03606200
33 International Primary Ciliary Dyskinesia Cohort Recruiting NCT03517865
34 Diagnostic and Clinical Characterization of Patients With Unusual Genetic Disorders of the Airways Recruiting NCT00807482
35 Primary Ciliary Dyskinesia New Gene Discovery to Improve Diagnostics and Clinical Care Recruiting NCT03801395
36 International Prospective Primary Ciliary Dyskinesia (PCD) Registry for Systematic Data Collection on Incidence, Clinical Presentation, Treatment and Course of the Disease Recruiting NCT02419365
37 Imaging of Human Epithelial Airway Using a High Resolution Micro OCT Catheter (Functional Anatomic Imaging of CF Patients With Early Lung Disease Using Micro OCT) Recruiting NCT03256773
38 Multiple Breath Washout in Paediatric Chronic Airways Disease: Building a Clinimetrics Dataset Recruiting NCT03320382
39 Fetal Alcohol Spectrum Disorder-Is This a Ciliopathy? Recruiting NCT03802708
40 Natural History of Bronchiectasis & Bronchiectasis Patient Registry Recruiting NCT00943514
41 Reducing the Effects of Air Pollution on Children With Cystic Fibrosis Recruiting NCT03853629
42 PRospective Observational Multicentre Study on VAriability of Lung Function in Stable PCD Patients Active, not recruiting NCT03704896
43 Registry Study on Primary Ciliary Dyskinesia in Chinese children-a Multicenter, Prospective Cohort Study Not yet recruiting NCT02704455
44 Comparison of Respiratory Function, Exercise Capacity and Peripheral Muscle Strength Among Patients With Cystic Fibrosis, Primary Ciliary Dyskinesia and Healthy Children Not yet recruiting NCT04161313
45 Comparison of the Efficacy of Comprehensive Respiratory Physiotherapy in Children With Cystic Fibrosis and Non-Cystic Fibrosis Bronchiectasis Not yet recruiting NCT04170114
46 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
47 Prospective Trial for the Evaluation of Safety, Tolerability and Efficacy of the Medical Device Simeox ® Compared to Traditional Respiratory Physiotherapy Techniques for Airway Secretion Clearance Terminated NCT02061852
48 The Influence of Chest Physiotherapy on Lung Function Parameters in Primary Ciliary Dyskinesia Withdrawn NCT01929356
49 A Prospective Study Measuring Exhaled Nitric Oxide Levels in Infants and Young Children Admitted to the Hospital for Respiratory Syncytial Virus (RSV) or Other Viral Lower Respiratory Tract 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:

40
Lung, Testes, Heart, Liver, Neutrophil
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 91)
# Title Authors PMID Year
1
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). 56 6
11231901 2001
2
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. 6 56
10577904 1999
3
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
4
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
5
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
6
Primary Ciliary Dyskinesia 6
20301301 2007
7
Cilia-related diseases. 56
15495266 2004
8
Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality. 56
15326634 2004
9
Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome. 56
12627427 2003
10
Lateralization defects and ciliary dyskinesia: lessons from algae. 56
12615011 2003
11
Ciliary dyskinesia associated with hydrocephalus and mental retardation in a Jordanian family. 56
11761503 2001
12
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity. 56
10757642 2000
13
Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia. 56
9934981 1999
14
Exclusion of chromosome 7 for Kartagener syndrome but suggestion of linkage in families with other forms of primary ciliary dyskinesia. 56
9915976 1999
15
Birth of healthy children after intracytoplasmic sperm injection in two couples with male Kartagener's syndrome. 56
9797091 1998
16
Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene. 56
9284741 1997
17
An epidemiologic study of Lyme disease in southern Sweden. 56
7566023 1995
18
Cystic fibrosis mutations and immotile cilia syndrome. 56
7554369 1995
19
The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome. 56
7989042 1994
20
Double lung transplantation in situs inversus with Kartagener's syndrome. Paris-Sud University Lung Transplant Group. 56
8028384 1994
21
Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome). 56
8071978 1994
22
Presence of an expressed beta-tubulin gene (TUBB) in the HLA class I region may provide the genetic basis for HLA-linked microtubule dysfunction. 56
8270253 1994
23
Immotile cilia syndrome associated with hydrocephalus and precocious puberty: a case report. 56
8130140 1993
24
HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome. 56
1601418 1992
25
Heart-lung transplantation in situs inversus. A case report in a patient with Kartagener's syndrome. 56
1735997 1992
26
Reproductive biology. A clue to Kartagener's. 56
1922334 1991
27
Inactivation of a sperm motility gene by insertion of an epidermal growth factor receptor transgene whose product is overexpressed and compartmentalized during spermatogenesis. 56
1714416 1991
28
Hydrocephalus, bronchiectasis, and ciliary aplasia. 56
2357097 1990
29
Linkage mapping of a mouse gene, iv, that controls left-right asymmetry of the heart and viscera. 56
2740340 1989
30
Kartagener's syndrome with normal spermatozoa. 56
3498050 1987
31
Genetic aspects of immotile cilia syndrome. 56
3492145 1986
32
Kartagener's syndrome. A blinded, controlled study of cilia ultrastructure. 56
2938608 1986
33
Situs inversus in homozygous mice without immotile cilia. 56
6512242 1984
34
Hydrocephalus and primary ciliary dyskinesia. 56
6732280 1984
35
Ultrastructural, cellular, and clinical features of the immotile-cilia syndrome. 56
6372667 1984
36
Defective neutrophil motility in patients with primary ciliary dyskinesia. 56
6416867 1983
37
Analysis of sperm function in Kartagener's syndrome. 56
6605262 1983
38
Immotile cilia syndrome. 56
6600815 1983
39
Genetics of Kartagener's syndrome. 56
6604643 1983
40
Neutrophil function in primary cilia dyskinesia. 56
6604655 1983
41
Kartagener's syndrome with motile spermatozoa. 56
6981769 1982
42
Kartagener's syndrome. 56
6978948 1982
43
Deficiency of protein-carboxyl methylase in immotile spermatozoa of infertile men. 56
7062962 1982
44
Polysplenia and kartagener syndromes in a sibship: association with abnormal respiratory cilia. 56
6977631 1982
45
Mucociliary transport and ultrastructural abnormalities in Polynesian bronchiectasis. 56
7307632 1981
46
The immotile cilia syndrome. A longitudinal survey. 56
7305108 1981
47
Genetical and ultrastructural aspects of the immotile-cilia syndrome. 56
7034533 1981
48
Central-pair microtubular complex of Chlamydomonas flagella: polypeptide composition as revealed by analysis of mutants. 56
7028763 1981
49
"Immotile-cilia" syndrome and ciliary abnormalities induced by infection and injury. 56
23875217 1981
50
Immotile cilia syndrome: radial spokes deficiency in a patient with Kartagener's triad. 56
6976061 1981

Variations for Ciliary Dyskinesia, Primary, 1

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

6 (show top 50) (show all 83) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAAF1 NM_178452.6(DNAAF1):c.1349dup (p.Pro451fs)duplication Pathogenic 263 rs397515339 16:84203783-84203783 16:84170177-84170177
2 DNAAF1 NM_178452.6(DNAAF1):c.524T>G (p.Leu175Arg)SNV Pathogenic 267 rs267607227 16:84188353-84188353 16:84154748-84154748
3 DNAAF2 NM_018139.2(DNAAF2):c.23C>A (p.Ser8Ter)SNV Pathogenic 529 rs137853191 14:50101845-50101845 14:49635127-49635127
4 DNAI2 NM_023036.6(DNAI2):c.346-3T>GSNV Pathogenic 4954 rs397515358 17:72283113-72283113 17:74286974-74286974
5 DNAI1 NM_012144.4(DNAI1):c.48+2dupduplication Pathogenic 5604 rs397515363 9:34459053-34459053 9:34459055-34459055
6 DNAI1 NM_012144.4(DNAI1):c.282_283insAATA (p.Gly95fs)insertion Pathogenic 5605 rs606231164 9:34489341-34489342 9:34489343-34489344
7 DNAI1 NM_012144.4(DNAI1):c.1658_1669del (p.Thr553_Phe556del)deletion Pathogenic 5607 rs606231165 9:34514480-34514491 9:34514482-34514493
8 DNAL1 NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser)SNV Pathogenic 30816 rs387907021 14:74156135-74156135 14:73689432-73689432
9 DNAAF3 NM_178837.4(DNAAF3):c.323T>C (p.Leu108Pro)SNV Pathogenic 31532 rs387907151 19:55677272-55677272 19:55165904-55165904
10 DNAAF3 NM_178837.4(DNAAF3):c.406C>T (p.Arg136Ter)SNV Pathogenic 31533 rs387907152 19:55676795-55676795 19:55165427-55165427
11 DNAAF3 NM_178837.4(DNAAF3):c.762dup (p.Val255fs)duplication Pathogenic 31534 rs397515395 19:55673053-55673053 19:55161685-55161685
12 CCDC103 NM_213607.3(CCDC103):c.383dup (p.Pro129fs)duplication Pathogenic 31697 rs587776910 17:42979839-42979839 17:44902471-44902471
13 CCDC114 NM_001364171.2(CCDC114):c.853G>A (p.Ala285Thr)SNV Pathogenic 39637 rs147718607 19:48807210-48807210 19:48303953-48303953
14 HYDIN NM_001270974.2(HYDIN):c.3985G>T (p.Val1329Leu)SNV Pathogenic 39698 rs397515413 16:71022036-71022036 16:70988133-70988133
15 HYDIN NM_001270974.2(HYDIN):c.922A>T (p.Lys308Ter)SNV Pathogenic 39699 rs397515414 16:71171175-71171175 16:71137272-71137272
16 DRC1 NM_145038.5(DRC1):c.2056A>T (p.Lys686Ter)SNV Pathogenic 55839 rs587776997 2:26677651-26677651 2:26454783-26454783
17 DNAI2 NM_023036.6(DNAI2):c.1494+1G>CSNV Pathogenic 65721 rs397515565 17:72306303-72306303 17:74310164-74310164
18 ZMYND10 NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)SNV Pathogenic 66021 rs138815960 3:50382964-50382964 3:50345533-50345533
19 ZMYND10 NM_015896.4(ZMYND10):c.797T>C (p.Leu266Pro)SNV Pathogenic 66026 rs200913791 3:50379904-50379904 3:50342473-50342473
20 RSPH1 NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)SNV Pathogenic 66987 rs138320978 21:43913159-43913159 21:42493049-42493049
21 RSPH1 NM_080860.4(RSPH1):c.366-3C>ASNV Pathogenic 66988 rs587777058 21:43905917-43905917 21:42485807-42485807
22 RSPH1 NM_080860.4(RSPH1):c.403_406AGTA[1] (p.Lys136fs)short repeat Pathogenic 66989 rs587777059 21:43905870-43905873 21:42485760-42485763
23 RSPH1 NM_080860.4(RSPH1):c.275-2A>CSNV Pathogenic 66990 rs151107532 21:43906573-43906573 21:42486463-42486463
24 RSPH9 NM_152732.5(RSPH9):c.801_803GAA[1] (p.Lys268del)short repeat Pathogenic 66994 rs397515340 6:43638659-43638661 6:43670922-43670924
25 SPAG1 NC_000008.11:g.100151617_100163589deldeletion Pathogenic 88681 8:101163845-101175817 8:100151617-100163589
26 SPAG1 NM_172218.2(SPAG1):c.2014C>T (p.Gln672Ter)SNV Pathogenic 88683 rs201740530 8:101245664-101245664 8:100233436-100233436
27 CFAP298 NM_021254.4(CFAP298):c.292C>T (p.Arg98Ter)SNV Pathogenic 88689 rs143740376 21:33982163-33982163 21:32609853-32609853
28 CFAP298 NM_021254.4(CFAP298):c.792_795del (p.Ala263_Tyr264insTer)deletion Pathogenic 88690 rs398122401 21:33974251-33974254 21:32601941-32601944
29 RSPH4A NM_001010892.3(RSPH4A):c.921+3_921+6deldeletion Pathogenic 88863 rs869320683 6:116944168-116944171 6:116623005-116623008
30 CCNO NM_021147.5(CCNO):c.248_252dup (p.Gly85fs)duplication Pathogenic 139599 rs587777498 5:54529100-54529104 5:55233272-55233276
31 CCNO NM_021147.5(CCNO):c.253_257GGCCC[3] (p.Gln88fs)short repeat Pathogenic 139600 rs587777499 5:54529090-54529094 5:55233262-55233266
32 CCNO NM_021147.5(CCNO):c.926del (p.Pro309fs)deletion Pathogenic 139601 rs587777500 5:54527330-54527330 5:55231502-55231502
33 CCNO NM_021147.5(CCNO):c.961C>T (p.Gln321Ter)SNV Pathogenic 139602 rs587777501 5:54527295-54527295 5:55231467-55231467
34 CCNO NM_021147.5(CCNO):c.263_267dup (p.Val90fs)duplication Pathogenic 139603 rs587777502 5:54529085-54529089 5:55233257-55233261
35 CCNO NM_021147.5(CCNO):c.479_480CT[1] (p.Leu161fs)short repeat Pathogenic 139611 rs587777503 5:54528274-54528275 5:55232446-55232447
36 CCDC151 NM_145045.5(CCDC151):c.925G>T (p.Glu309Ter)SNV Pathogenic 156365 rs587777779 19:11537002-11537002 19:11426182-11426182
37 CCDC151 NM_145045.5(CCDC151):c.1256C>A (p.Ser419Ter)SNV Pathogenic 156366 rs587777780 19:11533390-11533390 19:11422722-11422722
38 CCDC40 NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs)insertion Pathogenic 194774 rs587778819 17:78063675-78063676 17:80089876-80089877
39 DNAAF2 NM_018139.2(DNAAF2):c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs)duplication Pathogenic 208847 rs397515341 14:50100654-50100669 14:49633936-49633951
40 DNAH1 NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)SNV Pathogenic 209005 rs544674332 3:52387629-52387629 3:52353613-52353613
41 DNAH5 NM_001369.2(DNAH5):c.4348C>T (p.Gln1450Ter)SNV Pathogenic 208992 rs771663107 5:13865784-13865784 5:13865675-13865675
42 MCIDAS NM_001190787.2(MCIDAS):c.1142G>A (p.Arg381His)SNV Pathogenic 209009 rs797045152 5:54516210-54516210 5:55220382-55220382
43 MCIDAS NM_001190787.2(MCIDAS):c.1097G>A (p.Gly366Asp)SNV Pathogenic 209008 rs797045151 5:54516255-54516255 5:55220427-55220427
44 MCIDAS NM_001190787.2(MCIDAS):c.441C>A (p.Cys147Ter)SNV Pathogenic 209007 rs777031813 5:54518169-54518169 5:55222341-55222341
45 CCNO NM_021147.5(CCNO):c.716A>G (p.His239Arg)SNV Pathogenic 209004 rs797045150 5:54527540-54527540 5:55231712-55231712
46 RSPH4A NM_001010892.3(RSPH4A):c.166dup (p.Arg56fs)duplication Pathogenic 208994 rs797045147 6:116937952-116937952 6:116616789-116616789
47 RSPH3 NM_031924.5(RSPH3):c.631-2A>GSNV Pathogenic 209010 rs142800871 6:159407455-159407455 6:158986423-158986423
48 SPAG1 NM_003114.4(SPAG1):c.902_906del (p.Lys301fs)deletion Pathogenic 209000 rs797045149 8:101203687-101203691 8:100191459-100191463
49 LRRC6 NM_012472.6(LRRC6):c.630del (p.Trp210fs)deletion Pathogenic 208996 rs760123202 8:133645009-133645009 8:132632763-132632763
50 ARMC4 NM_001290020.2(ARMC4):c.1669G>T (p.Glu557Ter)SNV Pathogenic 208997 rs145742175 10:28233225-28233225 10:27944296-27944296

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

73
# Symbol AA change Variation ID SNP ID
1 DNAI1 p.Gly515Ser VAR_016775 rs79833450

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 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.33 RSPH9 RSPH4A RSPH1 LRRC6 DNAI2 DNAI1
2 cytoskeleton GO:0005856 10.02 RSPH9 RSPH4A DNAI2 DNAI1 DNAH5 DNAH1
3 axoneme GO:0005930 9.9 RSPH9 RSPH4A DNAI2 DNAH5 DNAH1 DNAAF1
4 cell projection GO:0042995 9.86 RSPH9 RSPH4A RSPH1 LRRC6 HYDIN DNAI2
5 microtubule GO:0005874 9.83 DNAI2 DNAI1 DNAH5 DNAH1
6 motile cilium GO:0031514 9.83 RSPH9 RSPH4A RSPH1 DNAH1 CCDC103
7 sperm flagellum GO:0036126 9.67 RSPH1 DNAI2 DNAH1
8 dynein complex GO:0030286 9.67 DNAI2 DNAI1 DNAH5 DNAH1
9 outer dynein arm GO:0036157 9.65 DNAI2 DNAI1 DNAH5 CCDC114 CCDC103
10 axonemal dynein complex GO:0005858 9.63 DNAI2 DNAH5 DNAH1
11 cilium GO:0005929 9.53 RSPH9 RSPH4A RSPH1 LRRC6 HYDIN DNAI2
12 9+2 motile cilium GO:0097729 9.51 RSPH9 DNAH5
13 radial spoke GO:0001534 9.48 RSPH9 RSPH4A

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 10.01 MCIDAS DNAI2 DNAI1 DNAAF3 CCNO CCDC151
2 determination of left/right symmetry GO:0007368 9.93 DNAI2 DNAI1 DNAH5 CCDC151 CCDC103 ARMC4
3 flagellated sperm motility GO:0030317 9.91 LRRC6 DNAI1 DNAH5 DNAH1 CCDC40
4 cilium assembly GO:0060271 9.91 RSPH9 RSPH4A MCIDAS DNAI2 DNAH5 DNAAF1
5 microtubule-based movement GO:0007018 9.86 DNAI2 DNAI1 DNAH5 DNAH1
6 epithelial cilium movement GO:0003351 9.83 DNAI1 DNAH5 DNAH1 CCDC40 CCDC103
7 axoneme assembly GO:0035082 9.8 RSPH9 RSPH4A RSPH1 CCDC40
8 motile cilium assembly GO:0044458 9.8 RSPH9 MCIDAS LRRC6 DNAAF3 DNAAF1 CCDC40
9 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.78 LRRC6 DNAAF1 CCDC40 CCDC103
10 heart looping GO:0001947 9.77 DNAAF1 CCDC40 CCDC103
11 inner dynein arm assembly GO:0036159 9.77 LRRC6 DNAH1 DNAAF1 CCDC40 CCDC103
12 cilium movement involved in cell motility GO:0060294 9.72 RSPH9 RSPH4A DNAH1
13 determination of digestive tract left/right asymmetry GO:0071907 9.71 DNAAF1 CCDC40 CCDC103
14 regulation of cilium beat frequency GO:0003356 9.7 DNAAF1 CCDC40 ARMC4
15 axonemal dynein complex assembly GO:0070286 9.63 DNAAF3 DNAAF2 DNAAF1 CCDC40 CCDC151 CCDC103
16 ventricular system development GO:0021591 9.61 HYDIN ARMC4
17 outer dynein arm assembly GO:0036158 9.61 LRRC6 DNAI2 DNAI1 DNAH5 DNAAF1 CCDC151
18 cilium-dependent cell motility GO:0060285 9.6 DNAH1 DNAAF2
19 determination of liver left/right asymmetry GO:0071910 9.58 DNAAF1 CCDC40
20 multi-ciliated epithelial cell differentiation GO:1903251 9.58 MCIDAS CCNO
21 determination of pancreatic left/right asymmetry GO:0035469 9.57 DNAAF1 CCDC40
22 cilium movement GO:0003341 9.47 RSPH9 RSPH4A LRRC6 HYDIN DNAI2 DNAI1

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

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.43 DNAI2 DNAI1
2 dynein light intermediate chain binding GO:0051959 9.4 DNAH5 DNAH1
3 dynein intermediate chain binding GO:0045505 9.37 DNAH5 DNAH1
4 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.32 DNAH5 DNAH1
5 dynein heavy chain binding GO:0045504 9.26 DNAI2 DNAI1
6 dynein light chain binding GO:0045503 9.16 DNAI2 DNAI1
7 microtubule motor activity GO:0003777 9.13 DNAI2 DNAH5 DNAH1
8 motor activity GO:0003774 8.92 DNAI2 DNAI1 DNAH5 DNAH1

Sources for Ciliary Dyskinesia, Primary, 1

3 CDC
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