Disease #05789 (KPA (keratosis pilaris atrophicans (KPA)), OMIM:604093)

Official abbreviation KPA
Name keratosis pilaris atrophicans (KPA)
OMIM ID 604093
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene LRP1
Associated tissues -
Disease features -
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Individuals

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00306818 family PubMed: Klar 2015, Journal: Klar 2015 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Sweden Pakistan - 0 - - KPA see paper; ..., perifollicular keratosis and inflammation progressing to atrophy and scars facial skin LRP1 LRP1 1 4 Johan den Dunnen
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