7 Primary Ciliary Dyskinesia

mutations in DNAH11

Also Known As:

Ciliary Dyskinesia, Primary, 7; Cild7; Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Hydrolases: 2166
    - Acid Anhydride Hydrolases
      - Adenosine Triphosphatases: 8623
        ATPases Associated with Diverse Cellular Activities: 163
        Dyneins: 538
        7 Primary Ciliary Dyskinesia: 1
        Molecular Motor Proteins: 16
        Dyneins: 538
        7 Primary Ciliary Dyskinesia: 1
      - AAA Proteins: 25
        ATPases Associated with Diverse Cellular Activities: 163
        Dyneins: 538
        7 Primary Ciliary Dyskinesia: 1
Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Carrier Proteins: 12999
    - AAA Proteins: 25
      - ATPases Associated with Diverse Cellular Activities: 163
        Dyneins: 538
        7 Primary Ciliary Dyskinesia: 1
  - Cytoskeletal Proteins: 739
    - Microtubule Proteins: 41
      - Dyneins: 538
        7 Primary Ciliary Dyskinesia: 1
Respiratory Tract Diseases: 6015
Otorhinolaryngologic Diseases: 203
- Ciliary Motility Disorders: 433
  - Kartagener Syndrome: 129
    - 7 Primary Ciliary Dyskinesia: 1
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - Dextrocardia: 289
      - Kartagener Syndrome: 129
        7 Primary Ciliary Dyskinesia: 1
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Dextrocardia: 289
      - Kartagener Syndrome: 129
        7 Primary Ciliary Dyskinesia: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
- Inborn Genetic Diseases: 11939
  - Ciliopathies: 604
    - Ciliary Motility Disorders: 433
      - Kartagener Syndrome: 129
        7 Primary Ciliary Dyskinesia: 1
  - Kartagener Syndrome: 129
    - 7 Primary Ciliary Dyskinesia: 1

Experts

1.	Elenius, Varpu: 1 article (11/2020)
2.	Lukkarinen, Heikki: 1 article (11/2020)
3.	Saarela, Tanja: 1 article (11/2020)
4.	Schultz, Rüdiger: 1 article (11/2020)

Related Diseases

1.	Ciliary Motility Disorders (Primary Ciliary Dyskinesia) 11/26/2020 - "Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype."