CILD1
MCID: CLR131
MIFTS: 61

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 57 73 6
Cild1 57 12 73
Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus 57 13
Primary Ciliary Dyskinesia 1 12 15
Polynesian Bronchiectasis 57 6
Kartagener Syndrome 73 71
Pcd 57 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 57
Primary Ciliary Dyskinesia 73
Ciliary Motility Disorders 71
Immotile Cilia Syndrome 1 73
Immotile Cilia Syndrome 57
Siewert Syndrome 73
Immotile Cilia 29
Ics1 73
Ktgs 73
Ics 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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 Ivacaftor and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include Primitive Streak, liver and lung, 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® : 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) (Updated 05-Mar-2021)

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, Primary, 44
Ciliary Dyskinesia, Primary, 45 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 394)
# Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 29 33.2 MCIDAS CCNO
2 ciliary dyskinesia, primary, 4 32.9 RPGR OFD1 DNAI1 DNAH5 DNAH11 CCDC65
3 ciliary dyskinesia, primary, 10 32.5 RSPH9 RSPH4A DNAI2 DNAAF2
4 ciliary dyskinesia, primary, 9 32.5 RSPH9 RSPH4A DNAI2 DNAAF2
5 ciliary dyskinesia, primary, 13 32.4 RSPH9 RSPH4A DNAAF2 DNAAF1 CCDC40
6 ciliary dyskinesia, primary, 2 32.3 DNAI2 DNAI1 DNAH5 DNAH11 DNAAF3 DNAAF2
7 ciliary dyskinesia, primary, 6 32.3 RSPH9 RSPH4A
8 primary ciliary dyskinesia 32.2 RSPH9 RSPH4A RSPH1 RPGR OFD1 MCIDAS
9 kartagener syndrome 31.2 RSPH9 RSPH4A RSPH1 RPGR OFD1 MCIDAS
10 dextrocardia 31.1 DNAI1 DNAH5 DNAH11 CCDC40
11 joubert syndrome 1 30.6 RPGR OFD1 DNAI1 DNAH5 DNAH11 DNAAF1
12 bronchiectasis 30.5 RSPH9 RSPH4A RSPH1 DNAI2 DNAI1 DNAH5
13 ciliary dyskinesia, primary, 8 30.4 RPGR OFD1 DNAI1 DNAH5 DNAH11 CCDC65
14 middle ear disease 30.4 RSPH9 RSPH4A DNAI2 DNAI1 DNAH5 DNAH11
15 male infertility 30.2 DNAI1 DNAH5 DNAH11 CCDC40
16 ciliary dyskinesia, primary, 7 30.2 DNAH11 CDCA7L
17 retinitis pigmentosa 30.1 RSPH9 RSPH4A RPGR OFD1 DNAI2 DNAI1
18 situs inversus 30.0 RSPH9 RSPH4A DNAI2 DNAI1 DNAH5 DNAH11
19 visceral heterotaxy 29.8 RSPH9 RSPH4A RSPH1 RPGR OFD1 MCIDAS
20 ciliary dyskinesia, primary, 24 11.8
21 ciliary dyskinesia with defective radial spokes 11.5
22 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 11.5
23 stromme syndrome 11.5
24 ciliary dyskinesia with excessively long cilia 11.4
25 paraneoplastic cerebellar degeneration 11.4
26 ciliary dyskinesia, primary, 12 11.3
27 ciliary dyskinesia, primary, 3 11.2
28 ciliary dyskinesia, primary, 5 11.2
29 ciliary dyskinesia, primary, 11 11.2
30 ciliary dyskinesia, primary, 18 11.2
31 ciliary dyskinesia, primary, 19 11.2
32 ciliary dyskinesia, primary, 20 11.2
33 x-linked retinitis pigmentosa and sinorespiratory infections 11.2
34 heterotaxy, visceral, 1, x-linked 11.2
35 heterotaxy, visceral, 9, autosomal, with male infertility 11.2
36 premature centromere division 11.2
37 hyperphenylalaninemia, bh4-deficient, d 11.1
38 paraneoplastic neurologic disorders 10.9
39 ciliary dyskinesia, primary, 22 10.9
40 ciliary dyskinesia, primary, 23 10.9
41 ciliary dyskinesia, primary, 25 10.9
42 ciliary dyskinesia, primary, 26 10.9
43 ciliary dyskinesia, primary, 27 10.9
44 ciliary dyskinesia, primary, 30 10.9
45 ciliary dyskinesia, primary, 37 10.9
46 ciliary dyskinesia, primary, 39 10.9
47 ciliary dyskinesia, primary, 36, x-linked 10.8
48 ciliary dyskinesia, primary, 14 10.8
49 ciliary dyskinesia, primary, 15 10.8
50 ciliary dyskinesia, primary, 16 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

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Ears:
chronic otitis media
conductive deafness

Genitourinary Internal Genitalia Male:
infertility
immotile sperm
absent or abnormal dynein arms of sperm and respiratory epithelial cilia by electron microscopy

Abdomen Spleen:
asplenia

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

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

Abdomen:
situs inversus

Head And Neck Nose:
anosmia
rhinitis
nasal polyps

Cardiovascular Heart:
dextrocardia

Respiratory Lung:
pneumonia

Neurologic Central Nervous System:
communicating hydrocephalus
headaches

Laboratory Abnormalities:
immotile cilia

Head And Neck Eyes:
corneal abnormalities

Clinical features from OMIM®:

244400 (Updated 05-Mar-2021)

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 cellular MP:0005384 10.11 CCDC39 CCDC40 DNAAF2 DNAAF3 DNAH11 DNAH5
2 growth/size/body region MP:0005378 10.07 CCDC39 CCDC40 CCNO DNAAF2 DNAAF3 DNAH11
3 craniofacial MP:0005382 9.97 CCDC39 CCNO DNAAF1 DNAH11 DNAH5 DNAI1
4 nervous system MP:0003631 9.93 CCDC39 CCDC40 CCNO CDCA7L DNAAF1 DNAAF2
5 respiratory system MP:0005388 9.7 CCDC39 CCDC40 CCNO DNAAF2 DNAAF3 DNAH11
6 skeleton MP:0005390 9.28 CCDC39 DNAAF1 DNAAF3 DNAH11 DNAH5 DNAI1

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 1

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ivacaftor Approved Phase 2 873054-44-5 16220172
2 Pharmaceutical Solutions Phase 2
3
Nitric Oxide Approved 10102-43-9 145068
4 Liver Extracts
5 Protective Agents
6 Respiratory System Agents
7 Anti-Asthmatic Agents
8 Antioxidants
9 Neurotransmitter Agents
10 Vasodilator Agents
11 Bronchodilator Agents
12 Endothelium-Dependent Relaxing Factors

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 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
2 The Israeli National Consortium for Early Detection and Characterization of Primary Ciliary Dyskinesia Unknown status NCT01070914
3 In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry Unknown status NCT02699177
4 Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide Unknown status NCT00739817
5 PRospective Observational Multicentre Study on VAriability of Lung Function in Stable PCD Patients Unknown status NCT03704896
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 Comparison of On-line and Off-line Measurements of Exhaled NO Unknown status NCT00686309
8 Otolith Function in Patients With Primary Ciliary Dyskinesia: a Pilot Study Completed NCT01246258
9 Genetic Study of Patients With Primary Ciliary Dyskinesia Completed NCT00005650
10 Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age Completed NCT00722878
11 Research Genetic Testing for Primary Ciliary Dyskinesia Using a Panel of Genes Completed NCT02389049
12 Molecular Diagnosis of Primary Ciliary Dyskinesia Completed NCT00783887
13 Ciliary Dysfunction as an Underlying Etiology Linking Primary Ciliary Dyskinesia With Heterotaxy and Complex Congenital Heart Disease Completed NCT00608556
14 Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age Completed NCT00450918
15 Comparison of Respiratory Function, Exercise Capacity and Peripheral Muscle Strength Among Patients With Cystic Fibrosis, Primary Ciliary Dyskinesia and Healthy Children Completed NCT04161313
16 Comparison of Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children With Primary Ciliary Dyskinesia and Healthy Controls Completed NCT03370029
17 Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia Completed NCT03494894
18 A Clinical Investigation Determining the Discriminative Ability of the NIOX VERO NASAL to Differentiate Subjects With Primary Ciliary Dyskinesia From Healthy Controls Completed NCT02622061
19 Inflammatory and Microbiologic Markers in Sputum in Response to Pulmonary Exacerbation: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia Completed NCT01155115
20 Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests Completed NCT00323167
21 Genetic Disorders of Mucociliary Clearance Completed NCT00368446
22 The Ear-Nose-Throat (ENT) Prospective International Cohort of PCD Patients (EPIC-PCD) Recruiting NCT04611516
23 International Primary Ciliary Dyskinesia Cohort Recruiting NCT03517865
24 Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults Recruiting NCT04702243
25 Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia Recruiting NCT03832491
26 Swiss Primary Ciliary Dyskinesia Registry Recruiting NCT03606200
27 An International Study on Genotype/Phenotype Correlation With Focus on Lung Function in Patients With Primary Ciliary Dyskinesia (PCD) Recruiting NCT04717115
28 COVID-19 in People With Primary Ciliary Dyskinesia Recruiting NCT04602481
29 International Prospective Primary Ciliary Dyskinesia (PCD) Registry for Systematic Data Collection on Incidence, Clinical Presentation, Treatment and Course of the Disease Recruiting NCT02419365
30 Utility of PCD Diagnostics to Improve Clinical Care Recruiting NCT03704207
31 Registry for Primary Ciliary Dyskinesia: : Systematic Data Collection on Incidence, Clinical Presentation, Treatment and Course of the Disease Recruiting NCT03271840
32 The Effect of a Dietary Supplement Rich in Nitric Oxide in Patients Diagnosed With Primary Ciliary Dyskinesia. Recruiting NCT04489472
33 Diagnostic and Clinical Characterization of Patients With Unusual Genetic Disorders of the Airways Recruiting NCT00807482
34 Whole Genome Sequencing of Korean Patients With Idiopathic Bronchiectasis for Identification of Disease-Causing Variants Recruiting NCT03809091
35 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
36 Application of a Program in Chronic Pediatric Patients With Different Pathologies and in Their Families. Recruiting NCT04476433
37 Multiple Breath Washout in Paediatric Chronic Airways Disease: Building a Clinimetrics Dataset Recruiting NCT03320382
38 Primary Ciliary Dyskinesia New Gene Discovery to Improve Diagnostics and Clinical Care Active, not recruiting NCT03801395
39 Registry Study on Primary Ciliary Dyskinesia in Chinese children-a Multicenter, Prospective Cohort Study Not yet recruiting NCT02704455
40 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
41 The Influence of Chest Physiotherapy on Lung Function Parameters in Primary Ciliary Dyskinesia Withdrawn NCT01929356

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
Liver, Lung, Heart, 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 105)
# Title Authors PMID Year
1
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). 6 57
11231901 2001
2
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. 6 57
10577904 1999
3
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. 6
30665704 2019
4
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. 6
27637300 2016
5
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 6
26139845 2015
6
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 6
24824133 2015
7
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. 6
24055112 2013
8
Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. 6
23798057 2013
9
DYX1C1 is required for axonemal dynein assembly and ciliary motility. 6
23872636 2013
10
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 6
23255504 2013
11
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 6
23261302 2013
12
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. 6
23261303 2013
13
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 6
22693285 2012
14
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
15
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. 6
21131972 2011
16
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 6
21131974 2011
17
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 6
16858015 2006
18
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 6
16627867 2006
19
Cilia-related diseases. 57
15495266 2004
20
Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality. 57
15326634 2004
21
Lateralization defects and ciliary dyskinesia: lessons from algae. 57
12615011 2003
22
Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome. 57
12627427 2003
23
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 6
11788826 2002
24
Ciliary dyskinesia associated with hydrocephalus and mental retardation in a Jordanian family. 57
11761503 2001
25
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity. 57
10757642 2000
26
Exclusion of chromosome 7 for Kartagener syndrome but suggestion of linkage in families with other forms of primary ciliary dyskinesia. 57
9915976 1999
27
Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia. 57
9934981 1999
28
Birth of healthy children after intracytoplasmic sperm injection in two couples with male Kartagener's syndrome. 57
9797091 1998
29
Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene. 57
9284741 1997
30
An epidemiologic study of Lyme disease in southern Sweden. 57
7566023 1995
31
Cystic fibrosis mutations and immotile cilia syndrome. 57
7554369 1995
32
The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome. 57
7989042 1994
33
Double lung transplantation in situs inversus with Kartagener's syndrome. Paris-Sud University Lung Transplant Group. 57
8028384 1994
34
Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome). 57
8071978 1994
35
Presence of an expressed beta-tubulin gene (TUBB) in the HLA class I region may provide the genetic basis for HLA-linked microtubule dysfunction. 57
8270253 1994
36
Immotile cilia syndrome associated with hydrocephalus and precocious puberty: a case report. 57
8130140 1993
37
HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome. 57
1601418 1992
38
Heart-lung transplantation in situs inversus. A case report in a patient with Kartagener's syndrome. 57
1735997 1992
39
Reproductive biology. A clue to Kartagener's. 57
1922334 1991
40
Inactivation of a sperm motility gene by insertion of an epidermal growth factor receptor transgene whose product is overexpressed and compartmentalized during spermatogenesis. 57
1714416 1991
41
Hydrocephalus, bronchiectasis, and ciliary aplasia. 57
2357097 1990
42
Linkage mapping of a mouse gene, iv, that controls left-right asymmetry of the heart and viscera. 57
2740340 1989
43
Kartagener's syndrome with normal spermatozoa. 57
3498050 1987
44
Genetic aspects of immotile cilia syndrome. 57
3492145 1986
45
Kartagener's syndrome. A blinded, controlled study of cilia ultrastructure. 57
2938608 1986
46
Situs inversus in homozygous mice without immotile cilia. 57
6512242 1984
47
Hydrocephalus and primary ciliary dyskinesia. 57
6732280 1984
48
Ultrastructural, cellular, and clinical features of the immotile-cilia syndrome. 57
6372667 1984
49
Defective neutrophil motility in patients with primary ciliary dyskinesia. 57
6416867 1983
50
Analysis of sperm function in Kartagener's syndrome. 57
6605262 1983

Variations for Ciliary Dyskinesia, Primary, 1

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

6 (show top 50) (show all 4904)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCNO NM_021147.5(CCNO):c.427dup (p.Val143fs) Duplication Pathogenic 951909 5:54528328-54528329 5:55232500-55232501
2 DNAI2 NM_023036.6(DNAI2):c.1763del (p.Gly588fs) Deletion Pathogenic 951640 17:72310298-72310298 17:74314159-74314159
3 DNAH11 NM_001277115.2(DNAH11):c.12310C>T (p.Arg4104Ter) SNV Pathogenic 952407 7:21920434-21920434 7:21880816-21880816
4 DNAH5 NC_000005.10:g.13786213_13786217dup Duplication Pathogenic 952589 5:13786321-13786322 5:13786212-13786213
5 DNAH5 NC_000005.10:g.13919265T>A SNV Pathogenic 952727 5:13919374-13919374 5:13919265-13919265
6 DNAH8 NM_001206927.2(DNAH8):c.253C>T (p.Arg85Ter) SNV Pathogenic 953583 6:38690838-38690838 6:38723062-38723062
7 DNAH11 NM_001277115.2(DNAH11):c.8144del (p.Asn2715fs) Deletion Pathogenic 953587 7:21781772-21781772 7:21742154-21742154
8 DNAH5 NC_000005.10:g.13777341G>C SNV Pathogenic 953205 5:13777450-13777450 5:13777341-13777341
9 DNAH5 NC_000005.10:g.13885133CTTT[1] Microsatellite Pathogenic 953299 5:13885239-13885242 5:13885130-13885133
10 DNAH8 NM_001206927.2(DNAH8):c.3511A>T (p.Lys1171Ter) SNV Pathogenic 953879 6:38783421-38783421 6:38815645-38815645
11 DNAH5 NC_000005.10:g.13900401_13900430del Deletion Pathogenic 954624 5:13900510-13900539 5:13900401-13900430
12 DRC1 NM_145038.5(DRC1):c.673dup (p.Ile225fs) Duplication Pathogenic 956836 2:26652627-26652628 2:26429759-26429760
13 DNAH5 NC_000005.10:g.13920608G>A SNV Pathogenic 954107 5:13920717-13920717 5:13920608-13920608
14 CCDC39 NM_181426.2(CCDC39):c.2507_2508del (p.Lys836fs) Deletion Pathogenic 955889 3:180334382-180334383 3:180616594-180616595
15 DNAH5 NC_000005.10:g.13792057del Deletion Pathogenic 958051 5:13792166-13792166 5:13792057-13792057
16 RSPH4A NM_001010892.3(RSPH4A):c.1774_1775del (p.Leu592fs) Deletion Pathogenic 957527 6:116950839-116950840 6:116629676-116629677
17 DNAH8 NM_001206927.2(DNAH8):c.2699T>A (p.Leu900Ter) SNV Pathogenic 957646 6:38758099-38758099 6:38790323-38790323
18 DNAAF2 NM_018139.3(DNAAF2):c.727_754del (p.Glu243fs) Deletion Pathogenic 955242 14:50101114-50101141 14:49634396-49634423
19 DNAH5 NC_000005.10:g.13840957G>C SNV Pathogenic 958471 5:13841066-13841066 5:13840957-13840957
20 DNAI1 NM_012144.4(DNAI1):c.544C>T (p.Gln182Ter) SNV Pathogenic 959225 9:34490409-34490409 9:34490411-34490411
21 DNAH5 NC_000005.10:g.13882731G>A SNV Pathogenic 959237 5:13882840-13882840 5:13882731-13882731
22 DNAH5 NC_000005.10:g.13737444T>A SNV Pathogenic 961693 5:13737553-13737553 5:13737444-13737444
23 DNAH5 NM_001369.2(DNAH5):c.3598+2T>C SNV Pathogenic 520776 rs981267400 5:13871671-13871671 5:13871562-13871562
24 DNAH11 NM_001277115.2(DNAH11):c.983-1G>T SNV Pathogenic 962440 7:21603803-21603803 7:21564185-21564185
25 CCDC40 NM_017950.4(CCDC40):c.1073dup (p.Arg359fs) Duplication Pathogenic 962995 17:78023995-78023996 17:80050196-80050197
26 DNAI1 NM_012144.4(DNAI1):c.1900dup (p.His634fs) Duplication Pathogenic 963405 9:34517361-34517362 9:34517363-34517364
27 CCDC39 NM_181426.2(CCDC39):c.2327dup (p.Glu777fs) Duplication Pathogenic 963579 3:180334692-180334693 3:180616904-180616905
28 DNAH5 NC_000005.10:g.13913908del Deletion Pathogenic 964431 5:13914015-13914015 5:13913906-13913906
29 DNAH5 NC_000005.10:g.13811778G>A SNV Pathogenic 964432 5:13811887-13811887 5:13811778-13811778
30 RPGR NM_000328.3(RPGR):c.183dup (p.Asn62Ter) Duplication Pathogenic 966689 X:38182169-38182170 X:38322916-38322917
31 CCDC39 NM_181426.2(CCDC39):c.547_548del (p.Leu183fs) Deletion Pathogenic 817471 rs758482424 3:180377526-180377527 3:180659738-180659739
32 DNAH5 NC_000005.10:g.13777242G>T SNV Pathogenic 968888 5:13777351-13777351 5:13777242-13777242
33 DNAAF1 NM_178452.6(DNAAF1):c.1484del (p.Pro495fs) Deletion Pathogenic 966424 16:84203916-84203916 16:84170310-84170310
34 DNAH8 NM_001206927.2(DNAH8):c.9079C>T (p.Arg3027Ter) SNV Pathogenic 968024 6:38867567-38867567 6:38899791-38899791
35 DNAI2 NM_023036.6(DNAI2):c.1683del (p.Lys562fs) Deletion Pathogenic 969610 17:72308330-72308330 17:74312191-74312191
36 DNAI1 NM_012144.4(DNAI1):c.1383_1384del (p.Ser462fs) Microsatellite Pathogenic 969991 9:34512175-34512176 9:34512177-34512178
37 DNAH5 NC_000005.10:g.13708302G>A SNV Pathogenic 970016 5:13708411-13708411 5:13708302-13708302
38 DNAH8 NM_001206927.2(DNAH8):c.2395+1dup Duplication Pathogenic 971828 6:38750914-38750915 6:38783138-38783139
39 DNAH11 NM_001277115.2(DNAH11):c.5199G>A (p.Trp1733Ter) SNV Pathogenic 971123 7:21698520-21698520 7:21658902-21658902
40 DNAH5 NC_000005.10:g.13923291_13923292delinsC Indel Pathogenic 971729 5:13923400-13923401 5:13923291-13923292
41 PTCD3 NM_017952.6(PTCD3):c.1358A>G (p.His453Arg) SNV Pathogenic 977568 2:86359532-86359532 2:86132409-86132409
42 DNAAF4-CCPG1 NM_130810.4(DNAAF4):c.784-1037_894-2012del Deletion Pathogenic 916125 15:55729268-55732816 15:55437070-55440618
43 DNAH5 NM_001369.2:c.5272-955_6197del Deletion Pathogenic 916123
44 DNAH5 NM_001369.2(DNAH5):c.3949C>T (p.Gln1317Ter) SNV Pathogenic 916124 5:13867987-13867987 5:13867878-13867878
45 DNAAF4-CCPG1 NM_130810.4(DNAAF4):c.856G>T (p.Glu286Ter) SNV Pathogenic 916126 15:55731707-55731707 15:55439509-55439509
46 DNAAF4-CCPG1 NG_021213.1(DNAAF4):g.80484_83613del Deletion Pathogenic 916127 15:55721820-55724949 15:55429622-55432751
47 DNAH11 NM_001277115.2(DNAH11):c.10219_10220CT[1] (p.Cys3408fs) Microsatellite Pathogenic 283902 rs886042735 7:21847554-21847555 7:21807936-21807937
48 DNAH5 NM_001369.2(DNAH5):c.8998C>T (p.Arg3000Ter) SNV Pathogenic 188388 rs769054713 5:13777418-13777418 5:13777309-13777309
49 DNAAF2 NM_018139.2(DNAAF2):c.23C>A (p.Ser8Ter) SNV Pathogenic 529 rs137853191 14:50101845-50101845 14:49635127-49635127
50 DNAAF3 NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter) SNV Pathogenic 31533 rs387907152 19:55676795-55676795 19:55165427-55165427

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 15)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.35 RSPH9 RSPH4A RSPH1 RPGR OFD1 DNAI2
2 extracellular region GO:0005576 10.18 OFD1 DNAI1 DNAH5 DNAH11 DNAAF2 DNAAF1
3 cytoskeleton GO:0005856 10.17 RSPH9 RSPH4A RPGR OFD1 DNAI2 DNAI1
4 cell projection GO:0042995 10.1 RSPH9 RSPH4A RSPH1 RPGR OFD1 DNAI2
5 motile cilium GO:0031514 9.85 RSPH9 RSPH4A RSPH1 RPGR OFD1 DNAH5
6 microtubule GO:0005874 9.84 DNAI2 DNAI1 DNAH5 DNAH11
7 dynein complex GO:0030286 9.76 DNAI2 DNAI1 DNAH5 DNAH11
8 ciliary basal body GO:0036064 9.72 RPGR OFD1 CCDC65
9 9+2 motile cilium GO:0097729 9.72 RSPH9 DNAI2 DNAI1 DNAH5 DNAH11
10 outer dynein arm GO:0036157 9.71 DNAI2 DNAI1 DNAH5 CCDC103
11 sperm flagellum GO:0036126 9.69 RSPH1 RPGR DNAI2
12 axonemal dynein complex GO:0005858 9.65 DNAI2 DNAH5 CCDC65
13 axoneme GO:0005930 9.65 RSPH9 RSPH4A DNAI2 DNAH5 DNAH11 DNAAF1
14 radial spoke GO:0001534 9.49 RSPH9 RSPH4A
15 cilium GO:0005929 9.47 RSPH9 RSPH4A RSPH1 RPGR OFD1 DNAI2

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 10.07 RSPH9 RSPH4A RPGR OFD1 MCIDAS DNAI2
2 determination of left/right symmetry GO:0007368 9.97 DNAI2 DNAI1 DNAH5 DNAH11 CCDC39 CCDC103
3 flagellated sperm motility GO:0030317 9.93 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
4 motile cilium assembly GO:0044458 9.93 RSPH9 MCIDAS DNAAF3 DNAAF1 CCDC40 CCDC39
5 heart development GO:0007507 9.91 DNAI1 DNAH5 DNAH11 CCDC39
6 inner dynein arm assembly GO:0036159 9.91 DNAAF5 DNAAF2 DNAAF1 CCDC40 CCDC39 CCDC103
7 microtubule-based movement GO:0007018 9.88 DNAI2 DNAI1 DNAH5 DNAH11
8 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.88 OFD1 DNAH11 DNAAF1 CCDC40 CCDC39 CCDC103
9 heart looping GO:0001947 9.87 DNAAF1 CCDC40 CCDC39 CCDC103
10 axonemal dynein complex assembly GO:0070286 9.87 DNAAF3 DNAAF2 DNAAF1 CCDC65 CCDC40 CCDC39
11 axoneme assembly GO:0035082 9.83 RSPH9 RSPH4A RSPH1 CCDC40
12 regulation of cilium beat frequency GO:0003356 9.81 DNAH11 DNAAF1 CCDC40 CCDC39
13 lung development GO:0030324 9.8 DNAAF1 CCDC40 CCDC39
14 outer dynein arm assembly GO:0036158 9.8 DNAI2 DNAI1 DNAH5 DNAAF5 DNAAF2 DNAAF1
15 determination of digestive tract left/right asymmetry GO:0071907 9.78 DNAAF1 CCDC40 CCDC39 CCDC103
16 cilium-dependent cell motility GO:0060285 9.75 DNAAF2 CCDC65 CCDC39
17 determination of liver left/right asymmetry GO:0071910 9.73 DNAAF1 CCDC40 CCDC39
18 determination of pancreatic left/right asymmetry GO:0035469 9.72 DNAAF1 CCDC40 CCDC39
19 epithelial cilium movement GO:0003351 9.7 DNAI1 DNAH5 DNAH11 DNAAF2 CCDC40 CCDC39
20 cell projection organization GO:0030030 9.7 RSPH9 RSPH4A RPGR OFD1 MCIDAS DNAI2
21 cilium movement involved in cell motility GO:0060294 9.62 RSPH9 RSPH4A
22 establishment of localization in cell GO:0051649 9.61 DNAH5 CCDC39
23 multi-ciliated epithelial cell differentiation GO:1903251 9.6 MCIDAS CCNO
24 establishment of left/right asymmetry GO:0061966 9.59 DNAAF2 CCDC39
25 cilium movement GO:0003341 9.36 RSPH9 RSPH4A DNAI2 DNAI1 DNAH5 DNAH11

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

# Name GO ID Score Top Affiliating Genes
1 dynein light intermediate chain binding GO:0051959 9.4 DNAH5 DNAH11
2 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.37 DNAH5 DNAH11
3 microtubule motor activity GO:0003777 9.33 DNAI2 DNAH5 DNAH11
4 dynein heavy chain binding GO:0045504 9.32 DNAI2 DNAI1
5 dynein light chain binding GO:0045503 9.26 DNAI2 DNAI1
6 motor activity GO:0003774 9.26 DNAI2 DNAI1 DNAH5 DNAH11
7 dynein intermediate chain binding GO:0045505 8.8 DNAH5 DNAH11 DNAAF5

Sources for Ciliary Dyskinesia, Primary, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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