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Sterol metabolism disorder

MONDO:0019256

An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process.

Also known as: inborn error of sterol metabolic process, inborn sterol metabolic process disorder, rare inborn error of sterol metabolic process

60 clinical trials for this condition and its sub-types, 0 tagged with Sterol metabolism disorder itself.

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Where it sits in the disease tree

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Part of

↑ Inherited lipid metabolism disorder (644) ↑ Steroid metabolism disease (104)

Sub-types of Sterol metabolism disorder

Sterol biosynthesis disorder 0 trials · 45 incl. sub-types
7 sub-types
- CHILD syndrome 37 trials
- Cholesterol biosynthetic process disease 2 trials · 6 incl. sub-types Sub-types →
- Mevalonate kinase deficiency 3 trials · 4 incl. sub-types Sub-types →
- Greenberg dysplasia 2 trials
- X-linked chondrodysplasia punctata 1 trial Sub-types →
- MEND syndrome 0 trials
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome 0 trials
Cholesterol metabolism disease 3 trials · 13 incl. sub-types
2 sub-types
- Cholesterol biosynthetic process disease 2 trials · 6 incl. sub-types Sub-types →
- Cholesterol catabolic process disease 0 trials · 6 incl. sub-types Sub-types →
Inborn disorder of bile acid synthesis 2 trials · 12 incl. sub-types
5 sub-types
- Cerebrotendinous xanthomatosis 6 trials
- Idiopathic malabsorption due to bile acid synthesis defects 4 trials
- Bile acid CoA ligase deficiency and defective amidation 0 trials
- Hypercholanemia, familial 0 trials Sub-types →
- Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 0 trials
Recessive X-linked ichthyosis 2 trials
1 sub-type
- Ichthyosis, X-linked, without steroid sulfatase deficiency 0 trials

Most studied deeper sub-types

Smith-Lemli-Opitz syndrome (6) Lathosterolosis (3) Desmosterolosis (2) Hyperimmunoglobulinemia D with periodic fever (2) X-linked chondrodysplasia punctata 2 (1) Hypercholanemia, familial 1 (0) Hypercholanemia, familial, 2 (0) Mevalonic aciduria (0) X-linked chondrodysplasia punctata 1 (0)

Including sub-types (60) Tagged with Sterol metabolism disorder (0)

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