CODAS syndrome

Also Known As:

Cerebral, Ocular, Dental, Auricular, Skeletal Anomalies Syndrome; Cerebral, ocular, dental, auricular, and skeletal syndrome

Networked: 7 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Eye Diseases: 3522
- Eye Abnormalities: 95
  - CODAS syndrome: 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - CODAS syndrome: 7
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Growth Disorders: 2264
    - CODAS syndrome: 7
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - CODAS syndrome: 7
- Musculoskeletal Abnormalities: 43
  - Developmental Dysplasia of the Hip: 950
    - Congenital Hip Dislocation: 357
      - CODAS syndrome: 7
  - Craniofacial Abnormalities: 203
    - CODAS syndrome: 7
Stomatognathic Diseases: 705
- Tooth Diseases: 33
  - Tooth Abnormalities: 33
    - CODAS syndrome: 7
- Stomatognathic System Abnormalities
  - Tooth Abnormalities: 33
    - CODAS syndrome: 7

Related Diseases

1.	Muscle Weakness
2.	Leigh Disease (Leigh's Disease)
3.	Cataract (Cataracts)
4.	Lactic Acidosis

Experts

1.	Lee, Jae: 2 articles (01/2022 - 01/2015)
2.	Suzuki, Carolyn K: 2 articles (01/2022 - 01/2015)
3.	Thilagavathi, Jayapalraja: 2 articles (01/2022 - 01/2015)
4.	Venkatesh, Sundararajan: 2 articles (01/2022 - 01/2015)
5.	Bonafé, Luisa: 2 articles (11/2015 - 07/2015)
6.	Campos-Xavier, Belinda: 2 articles (11/2015 - 07/2015)
7.	Cho, Tae-Joon: 2 articles (11/2015 - 07/2015)
8.	Dikoglu, Esra: 2 articles (11/2015 - 07/2015)
9.	Kim, Ok-Hwa: 2 articles (11/2015 - 07/2015)
10.	Superti-Furga, Andrea: 2 articles (11/2015 - 07/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to CODAS syndrome:

1.	Peptide Hydrolases (Proteases)FDA Link 06/08/2020 - "LONP1 is a nuclear-encoded mitochondrial protease crucial for organelle homeostasis; mutations of LONP1 have been associated with Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndrome. " 11/24/2015 - "We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373). " 07/01/2015 - "Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome." 01/01/2018 - "Biallelic mutations in the nuclear gene LONP1 (LON peptidase 1, mitochondrial) cause CODAS syndrome (cerebral, ocular, dental, auricular, and skeletal anomalies), a systemic disease that can include infantile cataract. "
2.	Protease La (Endopeptidase La)IBA 01/08/2015 - "CODAS syndrome is a distinct, autosomal-recessive, developmental disorder associated with dysfunction of the mitochondrial Lon protease. " 01/08/2015 - "CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease."
3.	Mitochondrial DNA (mtDNA)IBA 01/01/2018 - "We have applied whole exome sequencing to a patient with congenital lactic acidosis, muscle weakness, profound deficiencies in mitochondrial oxidative phosphorylation associated with loss of mtDNA copy number and MRI abnormalities consistent with Leigh syndrome, identifying biallelic variants in the LONP1 (NM_004793.3) gene; c.1693T > C predicting p.(Tyr565His) and c.2197G > A predicting p.(Glu733Lys); no evidence of the classical skeletal or dental defects observed in CODAS syndrome patients were noted in our patient. "
4.	bardoxoloneIBA 01/01/2022 - "The binding site of CDDO derivatives was validated by amino acid substitutions that increased LonP1 inhibition and also by a pathogenic mutation that causes cerebral, ocular, dental, auricular and skeletal (CODAS) syndrome, which ablated inhibition. "