Huppke-Brendel Syndrome (HPBDS)

Huppke-Brendel Syndrome(来自ICD-11)

别称:

Congenital Cataract-Hearing Loss-Severe Developmental Delay Syndrome

Congenital Cataracts, Hearing Loss, and Neurodegeneration

Cchlnd

Congenital Cataract-Deafness-Severe Developmental Delay Syndrome

Lethal Neurodegenerative Disorder Due to Copper Transport Defect

Cataracts, Congenital, Hearing Loss, and Neurodegeneration

Acetyl-Coa Transporter Deficiency

Hpbds

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Huppke-Brendel Syndrome, also known as congenital cataract-hearing loss-severe developmental delay syndrome, is related to wilson disease and aceruloplasminemia. An important gene associated with Huppke-Brendel Syndrome is SLC33A1 (Solute Carrier Family 33 Member 1). Affiliated tissues include eye and brain, and related phenotypes are hearing impairment and absent speech

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