has material basis in germline mutation in KDSR inherited bleeding disorder, platelet-type erythrokeratodermia variabilis erythrokeratodermia variabilis et progressiva 4 https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/erythrokeratodermia_variabilis_et_progressiva_4 MONDO:0033014 OMIM:617526 MEDGEN:1372799 An erythrokeratodermia variabilis caused by a variation in the KDSR gene, which impairs the sphingolipid pathway enzyme 3-ketodihydrosphingosine reductase. Affected individuals develop severe localized and acral hyperkeratotic, erythematous and scaly plaques, particularly on the face, genitals, hands and feet. Some individuals also exhibit thrombocytopenia or abnormal platelet production, reflecting the role of sphingolipid metabolism in megakaryocyte maturation. erythrokeratodermia variabilis et progressiva 4 EKVP4 KDSR-related erythrokeratodermia variabilis et progressiva UMLS:C4479620 DOID:0080250 GARD:0018590 inherited thrombocytopenia