Contractural Arachnodactyly, Congenital (CCA)

Alias:
Congenital Contractural Arachnodactyly
Beals Syndrome
Beals-Hecht Syndrome
Distal Arthrogryposis Type 9
Cca
Arthrogryposis, Distal, Type 9
Cca Syndrome
Da9
Ear Anomalies-Contractures-Dysplasia of Bone with Kyphoscoliosis
Contractures, Multiple with Arachnodactyly
Arachnodactyly, Contractural Beals Type
Arthrogyroposis, Distal, Type 9
Distal Arthrogyropsis Type 9
Arachnodactyly
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Contractural Arachnodactyly, Congenital, also known as congenital contractural arachnodactyly, is related to achard syndrome and cutis laxa, autosomal recessive, type ib. An important gene associated with Contractural Arachnodactyly, Congenital is FBN2 (Fibrillin 2), and among its related pathways/superpathways are Phospholipase-C Pathway and Extracellular matrix organization. The drugs Atenolol and Verapamil have been mentioned in the context of this disorder. Affiliated tissues include bone and heart, and related phenotypes are scoliosis and high palate
Related ID:
MESH:C536211
ICD11:1376425921

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
18
133
80

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
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IF
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