ICS
MCID: PRM011
MIFTS: 67

Primary Ciliary Dyskinesia (ICS)

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

Aliases & Classifications for Primary Ciliary Dyskinesia

MalaCards integrated aliases for Primary Ciliary Dyskinesia:

Name: Primary Ciliary Dyskinesia 12 75 24 53 25 59 37 29 6 15 63
Immotile Cilia Syndrome 24 53 25
Ciliary Motility Disorders 44 72
Pcd 25 59
Dyskinesia, Ciliary, Primary 40
Ciliary Dyskinesia Primary 53
Polynesian Bronchiectasis 53
Ciliary Motility Disorder 12
Immotile Ciliary Syndrome 12
Kartagener Syndrome 72
Ics 53

Characteristics:

Orphanet epidemiological data:

59
primary ciliary dyskinesia
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:9562
KEGG 37 H00564
MeSH 44 D002925
NCIt 50 C84638
SNOMED-CT 68 86204009 9057007
ICD10 via Orphanet 34 Q34.8
Orphanet 59 ORPHA244
UMLS 72 C0008780 C0022521

Summaries for Primary Ciliary Dyskinesia

Genetics Home Reference : 25 Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward. In the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems. Some individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome. Approximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals. Primary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes. Another feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear. Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.

MalaCards based summary : Primary Ciliary Dyskinesia, also known as immotile cilia syndrome, is related to ciliary dyskinesia, primary, 1 and kartagener syndrome, and has symptoms including headache An important gene associated with Primary Ciliary Dyskinesia is DNAAF5 (Dynein Axonemal Assembly Factor 5). 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 recurrent respiratory infections and pectus excavatum

Disease Ontology : 12 A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.

NIH Rare Diseases : 53 Primary ciliary dyskinesia (PCD) is an inherited disorder which affects the movement of tiny hair-like structures on body cells, known as cilia. Cilia are present on many types of cells, and particularly on those in the respiratory tract. In PCD, the cilia are abnormal, and don't move correctly. People with this disorder cannot clear the mucous and fluid in their lungs and airways. This leads to frequent respiratory infections, and continuous nasal congestion and coughing. In addition, because cilia are involved in how the organs form and develop, many people with PCD may have abnormal placement of the organs in the body, known as situs abnormalities. For example, their heart may be on the right side of their chest instead of the left. Almost all males with PCD are infertile. PCD is caused by mutations in one of over 30 different genes involved in the formation of cilia, and is usually inherited in an autosomal recessive pattern in families. It is diagnosed based on the clinical symptoms. Other diagnostic tests may include ciliary analysis and genetic testing. Treatment is based on taking care of the symptoms. The long-term outlook for people with PCD depends on the severity of the symptoms. People with frequent lung infections may experience permanent lung damage and require lung transplant. Early diagnosis and treatment may improve the long-term outlook for people with PCD.

KEGG : 37
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder with recurrent oto-sinopulmonary infections, bronchiectasis, and infertility owing to impaired motile ciliary function. Alterations in the left-right organization of the internal organ positioning, which is caused by dysfunctional nodal cilia in early developmental stage, occur in approximately 50% of PCD patients and this combination is referred as Kartagener syndrome.

PubMed Health : 63 About primary ciliary dyskinesia: Primary ciliary (SIL-e-ar-e) dyskinesia (dis-kih-NE-ze-ah), or PCD, is a rare disease that affects tiny, hair-like structures that line the airways. These structures are called cilia (SIL-e-ah). Cilia move together in wave-like motions. They carry mucus (a slimy substance) toward the mouth to be coughed or sneezed out of the body. The mucus contains inhaled dust, bacteria, and other small particles. If the cilia don't work well, bacteria stay in your airways. This can cause breathing problems, infections, and other disorders. PCD mainly affects the sinuses, ears, and lungs. Some people who have PCD have breathing problems from the moment of birth. Sperm cells have structures that are like cilia. In men who have PCD, these structures also may not work well. This can cause fertility problems. "Fertility" refers to the ability to have children. Fertility problems also occur in some women who have PCD. These problems likely are due to faulty cilia in the fallopian tubes. (The fallopian tubes carry eggs from the ovaries to the uterus.)

Wikipedia : 75 Primary ciliary dyskinesia (PCD), is a rare, ciliopathic, autosomal recessive genetic disorder that... more...

GeneReviews: NBK1122

Related Diseases for Primary Ciliary Dyskinesia

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, Due to Transposition of Ciliary Microtubules

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

(show top 50) (show all 949)
# Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 1 34.5 ZMYND10 RSPH9 RSPH4A RSPH1 DRC1 DNAI2
2 kartagener syndrome 34.1 ZMYND10 RSPH9 RSPH4A RSPH1 DRC1 DNAI2
3 bronchiectasis 33.7 DNAI1 DNAH5 CCDC40
4 situs inversus 32.8 DNAI2 DNAI1 DNAH5 DNAH11 DNAAF1 CCDC40
5 visceral heterotaxy 31.1 ZMYND10 RSPH9 RSPH4A RSPH1 DNAI2 DNAI1
6 congenital disorder of glycosylation, type ic 12.7
7 pseudohypoparathyroidism, type ic 12.6
8 ciliary dyskinesia, primary, 23 12.5
9 ciliary dyskinesia, primary, 25 12.5
10 cutis laxa, autosomal recessive, type ic 12.5
11 ciliary dyskinesia, primary, 9 12.5
12 ciliary dyskinesia, primary, 35 12.5
13 glycogen storage disease ic 12.4
14 ciliary dyskinesia, primary, 17 12.4
15 ciliary dyskinesia, primary, 19 12.4
16 ciliary dyskinesia, primary, 20 12.4
17 ciliary dyskinesia, primary, 27 12.4
18 ciliary dyskinesia, primary, 14 12.4
19 ciliary dyskinesia, primary, 15 12.4
20 ciliary dyskinesia, primary, 16 12.4
21 ciliary dyskinesia, primary, 21 12.4
22 ciliary dyskinesia, primary, 26 12.4
23 ciliary dyskinesia, primary, 28 12.4
24 ciliary dyskinesia, primary, 24 12.4
25 ciliary dyskinesia, primary, 3 12.4
26 ciliary dyskinesia, primary, 7 12.4
27 interstitial cystitis 12.4
28 neuropathy, hereditary sensory and autonomic, type ic 12.4
29 ciliary dyskinesia, primary, 5 12.4
30 ciliary dyskinesia, primary, 11 12.4
31 ciliary dyskinesia, primary, 12 12.4
32 ciliary dyskinesia, primary, 13 12.4
33 ciliary dyskinesia, primary, 2 12.4
34 ciliary dyskinesia, primary, 18 12.4
35 ciliary dyskinesia, primary, 22 12.4
36 ciliary dyskinesia, primary, 29 12.4
37 ciliary dyskinesia, primary, 30 12.4
38 ciliary dyskinesia, primary, 10 12.4
39 ciliary dyskinesia, primary, 33 12.4
40 ciliary dyskinesia, primary, 34 12.4
41 usher syndrome, type ic 12.4
42 ciliary dyskinesia, primary, 32 12.3
43 ciliary dyskinesia, primary, 4 12.3
44 amelogenesis imperfecta, type ic 12.3
45 ciliary dyskinesia, primary, 8 12.3
46 ciliary dyskinesia, primary, 6 12.3
47 ciliary dyskinesia, primary, 37 12.3
48 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 12.2
49 hereditary lymphedema ic 12.2
50 isolated focal cortical dysplasia type ic 12.2

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



Diseases related to Primary Ciliary Dyskinesia

Symptoms & Phenotypes for Primary Ciliary Dyskinesia

Human phenotypes related to Primary Ciliary Dyskinesia:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
2 pectus excavatum 59 Occasional (29-5%)
3 hydrocephalus 59 Occasional (29-5%)
4 scoliosis 59 Occasional (29-5%)
5 chronic otitis media 59 Frequent (79-30%)
6 delayed speech and language development 59 Frequent (79-30%)
7 respiratory distress 59 Frequent (79-30%)
8 corneal dystrophy 59 Occasional (29-5%)
9 cough 59 Frequent (79-30%)
10 ventriculomegaly 59 Occasional (29-5%)
11 abnormality of the immune system 59 Frequent (79-30%)
12 headache 59 Occasional (29-5%)
13 conductive hearing impairment 59 Frequent (79-30%)
14 asthma 59 Occasional (29-5%)
15 atelectasis 59 Occasional (29-5%)
16 pneumonia 59 Frequent (79-30%)
17 infertility 59 Occasional (29-5%)
18 nasal polyposis 59 Occasional (29-5%)
19 situs inversus totalis 59 Frequent (79-30%)
20 asplenia 59 Occasional (29-5%)
21 chronic sinusitis 59 Frequent (79-30%)
22 bronchiectasis 59 Frequent (79-30%)
23 spontaneous abortion 59 Occasional (29-5%)
24 tachypnea 59 Frequent (79-30%)
25 immotile cilia 59 Very frequent (99-80%)
26 chronic bronchitis 59 Frequent (79-30%)
27 rhinitis 59 Frequent (79-30%)
28 impaired nasal mucociliary clearance 59 Frequent (79-30%)
29 obstructive lung disease 59 Occasional (29-5%)
30 reduced sperm motility 59 Occasional (29-5%)
31 abnormality of the digestive system 59 Occasional (29-5%)
32 ectopic pregnancy 59 Occasional (29-5%)
33 glue ear 59 Occasional (29-5%)
34 clubbing of fingers 59 Occasional (29-5%)
35 halitosis 59 Occasional (29-5%)

UMLS symptoms related to Primary Ciliary Dyskinesia:


headache

MGI Mouse Phenotypes related to Primary Ciliary Dyskinesia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.15 ARMC4 CCDC39 CCDC40 DNAAF2 DNAAF3 DNAAF4
2 growth/size/body region MP:0005378 10.07 ARMC4 CCDC39 CCDC40 DNAAF2 DNAAF3 DNAAF4
3 cardiovascular system MP:0005385 10.06 ARMC4 CCDC39 DNAAF2 DNAAF3 DNAAF4 DNAH11
4 mortality/aging MP:0010768 9.9 ARMC4 CCDC39 CCDC40 DNAAF1 DNAAF2 DNAAF4
5 craniofacial MP:0005382 9.87 CCDC39 DNAAF1 DNAAF4 DNAH11 DNAH5 DNAI1
6 respiratory system MP:0005388 9.73 ARMC4 CCDC39 CCDC40 DNAAF2 DNAAF3 DNAAF4
7 skeleton MP:0005390 9.23 CCDC39 DNAAF1 DNAAF3 DNAAF4 DNAH11 DNAH5

Drugs & Therapeutics for Primary Ciliary Dyskinesia

PubMed Health treatment related to Primary Ciliary Dyskinesia: 63

Unfortunately, no treatment is available yet to fix faulty airway cilia. (Cilia are tiny, hair-like structures that line the airways.) Thus, treatment for primary ciliary dyskinesia (PCD) focuses on which symptoms and complications you have. The main goals of treating PCD are to: Control and treat lung, sinus, and ear infectionsRemove trapped mucus from the lungs and airways

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

(show all 32)
# 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 Sildenafil Citrate Phase 1, Phase 2 171599-83-0
8 Citrate Phase 1, Phase 2
9 Phosphodiesterase Inhibitors Phase 1, Phase 2
10 Phosphodiesterase 5 Inhibitors Phase 1, Phase 2
11
Ethanol Approved 64-17-5 702
12
Prednisolone phosphate Approved, Vet_approved Early Phase 1 302-25-0
13
Methylprednisolone Approved, Vet_approved Early Phase 1 83-43-2 6741
14
Methylprednisolone hemisuccinate Approved Early Phase 1 2921-57-5
15
mometasone furoate Approved, Investigational, Vet_approved Early Phase 1 83919-23-7
16
Prednisolone Approved, Vet_approved Early Phase 1 50-24-8 5755
17
Prednisolone hemisuccinate Experimental Early Phase 1 2920-86-7
18 Liver Extracts
19 Pharmaceutical Solutions Early Phase 1
20 Anti-Inflammatory Agents Early Phase 1
21 Gastrointestinal Agents Early Phase 1
22 Anti-Allergic Agents Early Phase 1
23 Antiemetics Early Phase 1
24 Neuroprotective Agents Early Phase 1
25 glucocorticoids Early Phase 1
26 Hormones Early Phase 1
27 Methylprednisolone Acetate Early Phase 1
28 Antineoplastic Agents, Hormonal Early Phase 1
29 Dermatologic Agents Early Phase 1
30 Hormone Antagonists Early Phase 1
31 Hormones, Hormone Substitutes, and Hormone Antagonists Early Phase 1
32 Prednisolone acetate Early Phase 1

Interventional clinical trials:

(show all 47)
# 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 The Israeli National Consortium for Early Detection and Characterization of Primary Ciliary Dyskinesia Unknown status NCT01070914
7 In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry Unknown status NCT02699177
8 Comparison of On-line and Off-line Measurements of Exhaled NO Unknown status NCT00686309
9 Optimising and Standardising Measurements of Inflammatory Markers in Exhaled Breath (EB) and Exhaled Breath Condensate (EBC) Unknown status NCT00983671
10 Exercise Capacity in Patients With Cystic Fibrosis vs. Non-cystic Fibrosis Bronchiectasis Unknown status NCT03147651
11 Genetic Study of Patients With Primary Ciliary Dyskinesia Completed NCT00005650
12 Molecular Diagnosis of Primary Ciliary Dyskinesia Completed NCT00783887
13 Comparison of Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children With Primary Ciliary Dyskinesia and Healthy Controls Completed NCT03370029
14 Otolith Function in Patients With Primary Ciliary Dyskinesia: a Pilot Study Completed NCT01246258
15 Ciliary Dysfunction as an Underlying Etiology Linking Primary Ciliary Dyskinesia With Heterotaxy and Complex Congenital Heart Disease Completed NCT00608556
16 Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests Completed NCT00323167
17 Inflammatory and Microbiologic Markers in Sputum in Response to Pulmonary Exacerbation: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia Completed NCT01155115
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 Determination of Normal Values of Nasal Nitric Oxide Measured With the NIOX MINO Analyzer in Adults: a Pilot Study Completed NCT02133547
20 Genetic Disorders of Mucociliary Clearance Completed NCT00368446
21 A Prospective Study Measuring Exhaled Nitric Oxide in Exercise-Induced Asthma Completed NCT01097954
22 Cross-Sectional Characterization of Idiopathic Bronchiectasis Completed NCT01264055
23 Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia Recruiting NCT03832491
24 Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia Recruiting NCT03494894
25 Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age Recruiting NCT00722878
26 Utility of PCD Diagnostics to Improve Clinical Care Recruiting NCT03704207
27 Primary Ciliary Dyskinesia New Gene Discovery to Improve Diagnostics and Clinical Care Recruiting NCT03801395
28 Registry for Primary Ciliary Dyskinesia: : Systematic Data Collection on Incidence, Clinical Presentation, Treatment and Course of the Disease Recruiting NCT03271840
29 A Pilot Study to Assess the Use of MRI in the Assessment of Patients With Cystic Fibrosis and Primary Ciliary Dyskinesia Recruiting NCT03279965
30 Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age Recruiting NCT00450918
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 International Prospective Primary Ciliary Dyskinesia (PCD) Registry for Systematic Data Collection on Incidence, Clinical Presentation, Treatment and Course of the Disease Recruiting NCT02419365
36 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
37 Multiple Breath Washout in Paediatric Chronic Airways Disease: Building a Clinimetrics Dataset Recruiting NCT03320382
38 Fetal Alcohol Spectrum Disorder-Is This a Ciliopathy? Recruiting NCT03802708
39 Natural History of Bronchiectasis & Bronchiectasis Patient Registry Recruiting NCT00943514
40 Reducing the Effects of Air Pollution on Children With Cystic Fibrosis Recruiting NCT03853629
41 Research Genetic Testing for Primary Ciliary Dyskinesia Using a Panel of Genes Active, not recruiting NCT02389049
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 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
45 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
46 The Influence of Chest Physiotherapy on Lung Function Parameters in Primary Ciliary Dyskinesia Withdrawn NCT01929356
47 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 Primary Ciliary Dyskinesia

Cochrane evidence based reviews: ciliary motility disorders

Genetic Tests for Primary Ciliary Dyskinesia

Genetic tests related to Primary Ciliary Dyskinesia:

# Genetic test Affiliating Genes
1 Primary Ciliary Dyskinesia 29 DNAAF5

Anatomical Context for Primary Ciliary Dyskinesia

MalaCards organs/tissues related to Primary Ciliary Dyskinesia:

41
Lung, Testes, Heart, Brain, Liver, Ovary, Spleen
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Publications for Primary Ciliary Dyskinesia

Articles related to Primary Ciliary Dyskinesia:

(show top 50) (show all 1441)
# Title Authors PMID Year
1
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 38 4 71
26073779 2015
2
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 38 4 71
24824133 2015
3
Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia. 38 4 71
25224326 2014
4
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. 38 4 71
25192045 2014
5
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. 38 4 71
24055112 2013
6
Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. 38 4 71
23798057 2013
7
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 38 4 71
24094744 2013
8
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 38 4 71
23993197 2013
9
DYX1C1 is required for axonemal dynein assembly and ciliary motility. 38 4 71
23872636 2013
10
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 38 4 71
23849778 2013
11
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. 38 4 71
23891471 2013
12
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 38 4 71
23891469 2013
13
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. 38 4 71
23354437 2013
14
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. 38 4 71
23261303 2013
15
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 38 4 71
23261302 2013
16
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. 38 4 71
23122589 2012
17
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. 38 4 71
23040496 2012
18
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. 38 4 71
23022101 2012
19
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 38 4 71
22581229 2012
20
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. 38 4 71
22387996 2012
21
Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. 38 4 71
21496787 2011
22
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. 38 4 71
21131972 2011
23
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 38 4 71
21131974 2011
24
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. 38 4 71
19944400 2009
25
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. 38 4 71
19944405 2009
26
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. 38 4 71
19200523 2009
27
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. 38 4 71
19052621 2008
28
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. 38 4 71
18950741 2008
29
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. 38 4 71
18022865 2008
30
A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. 38 4 71
17360648 2007
31
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 38 4 71
11788826 2002
32
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. 38 4 71
10577904 1999
33
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 4 71
24747639 2014
34
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization. 38 71
27486780 2016
35
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. 38 71
27486783 2016
36
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. 38 71
26387594 2015
37
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. 38 71
24518672 2014
38
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. 38 71
24203976 2014
39
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 38 71
23255504 2013
40
CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. 38 71
23991085 2013
41
Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD. 38 71
22102620 2012
42
Primary Ciliary Dyskinesia 38 71
20301301 2007
43
Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates. 38 71
14985390 2004
44
Absence of nexin links as a possible cause of primary ciliary dyskinesia. 38 71
12746204 2003
45
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). 38 71
11231901 2001
46
A locus for primary ciliary dyskinesia maps to chromosome 19q. 38 71
10745040 2000
47
Primary Ciliary Dyskinesia. 38 6
27514592 2016
48
Variation in DNAH1 may contribute to primary ciliary dyskinesia. 38 4
25927852 2015
49
Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. 38 4
25493340 2015
50
Primary ciliary dyskinesia and neonatal respiratory distress. 38 4
25422025 2014

Variations for Primary Ciliary Dyskinesia

ClinVar genetic disease variations for Primary Ciliary Dyskinesia:

6 (show top 50) (show all 3847)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CCDC39 NM_181426.2(CCDC39): c.1167+1261A> G single nucleotide variant Pathogenic rs577069249 3:180367928-180367928 3:180650140-180650140
2 DNAH5 NC_000005.9: g.(?_13824308)_(13830884_?)del deletion Pathogenic 5:13824308-13830884 5:13824199-13830775
3 DNAH5 NM_001369.2(DNAH5): c.13486C> T (p.Arg4496Ter) single nucleotide variant Pathogenic rs200901816 5:13701398-13701398 5:13701289-13701289
4 ZMYND10 NM_015896.4(ZMYND10): c.85T> C (p.Ser29Pro) single nucleotide variant Pathogenic rs587621539 3:50382926-50382926 3:50345495-50345495
5 DNAH5 NM_001369.2(DNAH5): c.5983C> T (p.Arg1995Ter) single nucleotide variant Pathogenic rs773711154 5:13830784-13830784 5:13830675-13830675
6 DNAH5 NM_001369.2(DNAH5): c.5563dup (p.Ile1855fs) duplication Pathogenic rs752925056 5:13841161-13841161 5:13841052-13841052
7 DNAH5 NM_001369.2(DNAH5): c.12599dup (p.Phe4201fs) duplication Pathogenic rs1554020233 5:13717530-13717530 5:13717421-13717421
8 DNAH5 NM_001369.2(DNAH5): c.11725C> T (p.Arg3909Ter) single nucleotide variant Pathogenic rs1060501464 5:13735276-13735276 5:13735167-13735167
9 DNAH5 NM_001369.2(DNAH5): c.10910del (p.Leu3637fs) deletion Pathogenic rs769691189 5:13752361-13752361 5:13752252-13752252
10 DNAH5 NM_001369.2(DNAH5): c.6304C> T (p.Arg2102Cys) single nucleotide variant Pathogenic rs767019228 5:13829759-13829759 5:13829650-13829650
11 DNAH5 NM_001369.2(DNAH5): c.6293del (p.Lys2098fs) deletion Pathogenic rs1060501461 5:13829770-13829770 5:13829661-13829661
12 DNAH5 NM_001369.2(DNAH5): c.13331G> A (p.Trp4444Ter) single nucleotide variant Pathogenic rs1060501467 5:13708239-13708239 5:13708130-13708130
13 DNAH5 NM_001369.2(DNAH5): c.8465G> A (p.Trp2822Ter) single nucleotide variant Pathogenic rs1060501455 5:13789007-13789007 5:13788898-13788898
14 DNAH5 NM_001369.2(DNAH5): c.8024_8025dup (p.Val2676Ter) duplication Pathogenic rs1060501459 5:13793823-13793824 5:13793714-13793715
15 DNAH5 NM_001369.2(DNAH5): c.6273_6274delinsA (p.Glu2092fs) indel Pathogenic rs1060501457 5:13829789-13829790 5:13829680-13829681
16 DNAH5 NM_001369.2(DNAH5): c.2533C> T (p.Gln845Ter) single nucleotide variant Pathogenic rs1060501458 5:13891129-13891129 5:13891020-13891020
17 CCNO NM_021147.5(CCNO): c.638T> C (p.Leu213Pro) single nucleotide variant Pathogenic rs775051461 5:54527618-54527618 5:55231790-55231790
18 DNAH5 NM_001369.2(DNAH5): c.8314C> T (p.Arg2772Ter) single nucleotide variant Pathogenic rs781469274 5:13792237-13792237 5:13792128-13792128
19 DNAH5 NM_001369.2(DNAH5): c.559G> T (p.Glu187Ter) single nucleotide variant Pathogenic rs759059925 5:13922317-13922317 5:13922208-13922208
20 DNAH8 NM_001206927.2(DNAH8): c.7866G> A (p.Trp2622Ter) single nucleotide variant Pathogenic rs766256391 6:38850693-38850693 6:38882917-38882917
21 DNAH11 NM_001277115.2(DNAH11): c.10789C> T (p.Gln3597Ter) single nucleotide variant Pathogenic rs1060503063 7:21882259-21882259 7:21842641-21842641
22 CCNO NM_021147.5(CCNO): c.775C> T (p.Gln259Ter) single nucleotide variant Pathogenic rs1060503388 5:54527481-54527481 5:55231653-55231653
23 RSPH4A NM_001010892.3(RSPH4A): c.1068G> A (p.Trp356Ter) single nucleotide variant Pathogenic rs371374918 6:116948938-116948938 6:116627775-116627775
24 DNAH11 NM_001277115.2(DNAH11): c.13075C> T (p.Arg4359Ter) single nucleotide variant Pathogenic rs774903187 7:21938979-21938979 7:21899361-21899361
25 DNAI1 NM_012144.4(DNAI1): c.156del (p.Asp53fs) deletion Pathogenic rs1060503495 9:34485214-34485214 9:34485216-34485216
26 DNAI1 NM_012144.4(DNAI1): c.1188del (p.Tyr397fs) deletion Pathogenic rs1060503515 9:34506749-34506749 9:34506751-34506751
27 DNAAF2 NM_018139.2(DNAAF2): c.388G> T (p.Glu130Ter) single nucleotide variant Pathogenic rs752795172 14:50101480-50101480 14:49634762-49634762
28 DNAAF4 NC_000015.9: g.(?_55742420)_(55742565_?)del deletion Pathogenic 15:55742420-55742565 15:55450222-55450367
29 DNAAF2 NM_018139.2(DNAAF2): c.1156_1159dup (p.Glu387fs) duplication Pathogenic rs902156961 14:50100709-50100712 14:49633991-49633994
30 DNAAF4 NM_001033560.1(DNAAF4): c.165_167delinsCT (p.Pro56fs) indel Pathogenic rs1060503095 15:55790014-55790016 15:55497816-55497818
31 DNAAF1 NM_178452.6(DNAAF1): c.190C> T (p.Gln64Ter) single nucleotide variant Pathogenic rs1060502829 16:84182677-84182677 16:84149072-84149072
32 CCDC103 NM_213607.3(CCDC103): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs1060503433 17:42978481-42978481 17:44901113-44901113
33 DNAI2 NM_023036.6(DNAI2): c.876G> A (p.Trp292Ter) single nucleotide variant Pathogenic rs1060502202 17:72297196-72297196 17:74301057-74301057
34 CCDC40 NM_017950.4(CCDC40): c.1276G> T (p.Glu426Ter) single nucleotide variant Pathogenic rs775299709 17:78032409-78032409 17:80058610-80058610
35 DNAI2 NM_023036.6(DNAI2): c.883C> T (p.Arg295Ter) single nucleotide variant Pathogenic rs200708870 17:72297203-72297203 17:74301064-74301064
36 DNAI2 NM_023036.6(DNAI2): c.1516C> T (p.Arg506Ter) single nucleotide variant Pathogenic rs141581673 17:72308163-72308163 17:74312024-74312024
37 CCDC40 NM_017950.4(CCDC40): c.2591_2592delinsACCG (p.Thr864fs) indel Pathogenic rs1060501719 17:78061547-78061548 17:80087748-80087749
38 RSPH1 NM_080860.3(RSPH1): c.573+1_573+17delGTAAGTTGCGGAGCATG deletion Pathogenic rs1064792947 21:43902730-43902746 21:42482620-42482636
39 RSPH1 NM_080860.4(RSPH1): c.287dup (p.Asn96fs) duplication Pathogenic rs1060501861 21:43906559-43906559 21:42486449-42486449
40 RPGR NM_000328.3(RPGR): c.1366C> T (p.Gln456Ter) single nucleotide variant Pathogenic rs1060501181 X:38156585-38156585 X:38297332-38297332
41 DNAAF3 NM_178837.4(DNAAF3): c.748_752dup (p.Arg252fs) duplication Pathogenic rs1060502831 19:55673063-55673067 19:55161695-55161699
42 DNAH5 NM_001369.2(DNAH5): c.5647C> T (p.Arg1883Ter) single nucleotide variant Pathogenic rs575017579 5:13841077-13841077 5:13840968-13840968
43 RSPH4A NM_001010892.3(RSPH4A): c.1662+2_1662+5del deletion Pathogenic rs768986129 6:116949531-116949534 6:116628371-116628374
44 CCDC39 duplication Pathogenic
45 CCDC39 NM_181426.2(CCDC39): c.2497_2498del (p.Gln833fs) deletion Pathogenic rs1007345781 3:180334392-180334393 3:180616604-180616605
46 CCDC39 NM_181426.2(CCDC39): c.2551G> T (p.Glu851Ter) single nucleotide variant Pathogenic rs1553800956 3:180334339-180334339 3:180616551-180616551
47 CCDC39 NM_181426.2(CCDC39): c.1311dup (p.Gln438fs) duplication Pathogenic rs1553804209 3:180366004-180366004 3:180648216-180648216
48 CCDC39 NM_181426.1(CCDC39): c.1035delG (p.Arg345Serfs) deletion Pathogenic rs1553804640 3:180369321-180369321 3:180651533-180651533
49 CCDC39 NM_181426.2(CCDC39): c.451del (p.Ala151fs) deletion Pathogenic rs1553805885 3:180378423-180378423 3:180660635-180660635
50 CCDC39 NM_181426.2(CCDC39): c.1874+1G> A single nucleotide variant Pathogenic rs1553803540 3:180359780-180359780 3:180641992-180641992

Expression for Primary Ciliary Dyskinesia

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

Pathways for Primary Ciliary Dyskinesia

GO Terms for Primary Ciliary Dyskinesia

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 microtubule GO:0005874 9.8 DNAI2 DNAI1 DNAH5 DNAH11
2 motile cilium GO:0031514 9.8 RSPH9 RSPH4A RSPH1 DRC1 DNAH11 DNAAF5
3 dynein complex GO:0030286 9.76 DNAI2 DNAI1 DNAH5 DNAH11
4 axoneme GO:0005930 9.73 RSPH9 RSPH4A DRC1 DNAI2 DNAH5 DNAH11
5 outer dynein arm GO:0036157 9.62 DNAI2 DNAI1 DNAH5 CCDC114
6 9+2 motile cilium GO:0097729 9.61 RSPH9 DNAH5 DNAH11
7 cilium GO:0005929 9.5 RSPH9 RSPH4A RSPH1 DRC1 DNAI2 DNAI1
8 axonemal dynein complex GO:0005858 9.48 DNAI2 DNAH5
9 cytoplasm GO:0005737 10.36 ZMYND10 RSPH9 RSPH4A RSPH1 DRC1 DNAI2
10 cytoskeleton GO:0005856 10.11 ZMYND10 RSPH9 RSPH4A DRC1 DNAI2 DNAI1
11 cell projection GO:0042995 10 RSPH9 RSPH4A RSPH1 DRC1 DNAI2 DNAI1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.96 DRC1 DNAI1 DNAH5 DNAH11 DNAAF4
2 determination of left/right symmetry GO:0007368 9.95 DRC1 DNAI2 DNAI1 DNAH5 DNAH11 DNAAF4
3 flagellated sperm motility GO:0030317 9.91 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
4 cilium assembly GO:0060271 9.9 DNAI2 DNAH5 DNAAF1 CFAP298
5 microtubule-based movement GO:0007018 9.88 DNAI2 DNAI1 DNAH5 DNAH11
6 heart looping GO:0001947 9.87 DNAAF1 CCDC40 CCDC39 CCDC103
7 motile cilium assembly GO:0044458 9.85 ZMYND10 RSPH9 DNAAF3 DNAAF1 CCDC40 CCDC39
8 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.83 DNAH11 DNAAF1 CCDC40 CCDC39 CCDC103
9 axoneme assembly GO:0035082 9.8 RSPH9 RSPH4A RSPH1 CCDC40
10 inner dynein arm assembly GO:0036159 9.8 ZMYND10 DNAAF5 DNAAF4 DNAAF1 CCDC40 CCDC39
11 lung development GO:0030324 9.78 DNAAF1 CCDC40 CCDC39
12 epithelial cilium movement GO:0003351 9.78 DNAI1 DNAH11 DNAAF4 CCDC40
13 determination of digestive tract left/right asymmetry GO:0071907 9.76 DNAAF1 CCDC40 CCDC39 CCDC103
14 cilium-dependent cell motility GO:0060285 9.75 DRC1 DNAAF2 CCDC39
15 determination of liver left/right asymmetry GO:0071910 9.72 DNAAF1 CCDC40 CCDC39
16 regulation of cilium beat frequency GO:0003356 9.72 DNAH11 DNAAF1 CCDC40 CCDC39 ARMC4
17 determination of pancreatic left/right asymmetry GO:0035469 9.71 DNAAF1 CCDC40 CCDC39
18 axonemal dynein complex assembly GO:0070286 9.7 DRC1 DNAAF3 DNAAF2 DNAAF1 CCDC40 CCDC39
19 outer dynein arm assembly GO:0036158 9.65 ZMYND10 DNAI2 DNAI1 DNAH5 DNAAF5 DNAAF4
20 regulation of cilium movement GO:0003352 9.59 DRC1 CFAP298
21 cilium movement GO:0003341 9.47 RSPH9 RSPH4A DNAI2 DNAI1 DNAH5 DNAH11
22 cell projection organization GO:0030030 10 DNAI2 DNAI1 DNAAF5 DNAAF3 CCDC103 ARMC4

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

# Name GO ID Score Top Affiliating Genes
1 dynein light intermediate chain binding GO:0051959 9.43 DNAH5 DNAH11
2 microtubule motor activity GO:0003777 9.43 DNAI2 DNAH5 DNAH11
3 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.4 DNAI2 DNAI1
4 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.37 DNAH5 DNAH11
5 dynein intermediate chain binding GO:0045505 9.33 DNAH5 DNAH11 DNAAF5
6 dynein heavy chain binding GO:0045504 9.32 DNAI2 DNAI1
7 motor activity GO:0003774 9.26 DNAI2 DNAI1 DNAH5 DNAH11
8 dynein light chain binding GO:0045503 8.92 DNAI2 DNAI1 DNAH5 DNAH11

Sources for Primary Ciliary Dyskinesia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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