KEGG DISEASE: Desmosterolosis

KEGG

DISEASE: Desmosterolosis

Entry

H00617                      Disease

Name

Desmosterolosis

Description

Desmosterolosis is a very rare disorder of cholesterol biosynthesis. Multiple congenital malformations including developmental delay, brain malformations, skeletal anomalies, and facial deformities are caused by impaired cholesterol synthesis due to mutations in the enzyme 24-dehydrocholesterol reductase (DHCR24).

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H00617  Desmosterolosis
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
  nt06034  Cholesterol biosynthesis
   H00617  Desmosterolosis

Pathway

Steroid biosynthesis

Network

nt06034 Cholesterol biosynthesis

Gene

DHCR24 [HSA:1718] [KO:K09828]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M

Title

Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.

Journal

Am J Med Genet A 155A:1597-604 (2011)
DOI:10.1002/ajmg.a.34040

Reference

Authors

FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT

Title

Clinical phenotype of desmosterolosis.

Journal

Am J Med Genet 75:145-52 (1998)
DOI:10.1002/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S

Reference

Authors

Andersson HC, Kratz L, Kelley R

Title

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.

Journal

Am J Med Genet 113:315-9 (2002)
DOI:10.1002/ajmg.b.10873

Reference

PMID:11519011 (DHCR24)

Authors

Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ

Title

Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.

Journal

Am J Hum Genet 69:685-94 (2001)
DOI:10.1086/323473

LinkDB

» Japanese version

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