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Elevated circulating dimethyl sterol concentration

MedGen UID:
1052817
Concept ID:
CN377903
Finding
HPO: HP:6000754

Definition

The concentration of dimethylsterols in the blood circulation is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated circulating dimethyl sterol concentration

Conditions with this feature

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
MedGen UID:
1798933
Concept ID:
C5567510
Disease or Syndrome
Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).

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