Codas Syndrome (CODASS)

Alias:
Cerebral, Ocular, Dental, Auricular, and Skeletal Anomalies Syndrome
Cerebrooculodentoauriculoskeletal Syndrome
Cerebral, Ocular, Dental, Auricular, and Skeletal Syndrome
Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome
Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome
Codass
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Codas Syndrome, also known as cerebral, ocular, dental, auricular, and skeletal anomalies syndrome, is related to even-plus syndrome and cataract. An important gene associated with Codas Syndrome is LONP1 (Lon Peptidase 1, Mitochondrial), and among its related pathways/superpathways are Peroxisomal lipid metabolism and Mitochondrial calcium ion transport. Affiliated tissues include bone and eye, and related phenotypes are cataract and global developmental delay
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
14
75
7

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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