Palmoplantar ectodermal dysplasia type 5

Introduction: Palmoplantar ectodermal dysplasia type 5

Description of Palmoplantar ectodermal dysplasia type 5

Palmoplantar ectodermal dysplasia type 5: An inborn error of amino acid metabolism characterized by keratosis palmaris et plantaris, persistent dendritic lesions of the cornea with unaffected corneal sensitivity, photophobia, and persistent tearing in association with tyrosine aminotransaminase deficiency and elevated blood tyrosine level. Severe mental and somatic retardation occur in most cases. Visual complications may include blindness.
Source: Diseases Database

Palmoplantar ectodermal dysplasia type 5: Related Topics

These medical condition or symptom topics may be relevant to medical information for Palmoplantar ectodermal dysplasia type 5:

• Ectodermal dysplasia
• Ectodermal
• Dysplasia
• Type
• Inborn
• Error
• Acid
• Metabolism
• Metabolism disorder
• Keratosis

Terms associated with Palmoplantar ectodermal dysplasia type 5:

Terms Similar to Palmoplantar ectodermal dysplasia type 5:

• Richner-Hanhart syndrome
• Tyrosine aminotransferase deficiency
• Tyrosinaemia type 2

Source: Diseases Database

External links related to: Palmoplantar ectodermal dysplasia type 5

• Search Jablonski's Syndromes Database
• OMIM - TYROSINE TRANSAMINASE DEFICIENCY
• Richner-Hanhart syndrome (www.whonamedit.com)

Source: Diseases Database

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