Details of Disease

General Information of Disease (ID: DISFZKWR)

Disease Name Punctate palmoplantar keratoderma type 1
Synonyms
punctate palmoplantar keratoderma type I; type I punctate palmoplantar keratoderma; keratoderma, palmoplantar punctate type 1; Brauer-Buschke-Fischer syndrome; keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; PPKP1; Buschke-Fischer-Brauer syndrome
Definition
Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..
Disease Hierarchy
DISEHSO1: Punctate palmoplantar keratoderma
DISFZKWR: Punctate palmoplantar keratoderma type 1
Disease Identifiers
MONDO ID
MONDO_0019332
MESH ID
C536161
UMLS CUI
C1835662
OMIM ID
148600
MedGen ID
372099
Orphanet ID
79501
SNOMED CT ID
717184007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AAGAB OTRGGM2Z Supportive Autosomal dominant [1]
COL14A1 OTLNJ13O Supportive Autosomal dominant [2]
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References

1 Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am J Hum Genet. 2012 Oct 5;91(4):754-9. doi: 10.1016/j.ajhg.2012.08.024. Epub 2012 Sep 20.
2 Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. J Med Genet. 2012 Sep;49(9):563-8. doi: 10.1136/jmedgenet-2012-100868.