Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts (HDBSCC)

Alias:
Porencephaly-Microcephaly-Bilateral Congenital Cataract Syndrome
Hdbscc
Hemorrhagic Destruction of the Brain with Subependymal Calcification and Cataracts
Hemorrhagic Destruction of the Brain, Subependymal Calcification, Cataracts
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts, also known as porencephaly-microcephaly-bilateral congenital cataract syndrome, is related to microcephaly and cataract, and has symptoms including muscle spasticity and seizures. An important gene associated with Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts is JAM3 (Junctional Adhesion Molecule 3). Affiliated tissues include brain and pons, and related phenotypes are seizure and spasticity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
7
2

Medical Symptom

#
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

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
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