Lathosterolosis

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Lathosterolosis
Classification and external resources
Lathosterol
OMIM	607330

Lathosterolosis is a defect in cholesterol biosynthesis.^[1]^[2]^[3]

See also

SC5DL
Lathosterol

References

↑ Herman GE (April 2003). "Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes". Hum. Mol. Genet. 12. Spec No 1: R75–88. doi:10.1093/hmg/ddg072. PMID 12668600.
↑ Brunetti-Pierri N, Corso G, Rossi M, et al. (October 2002). "Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase". Am. J. Hum. Genet. 71 (4): 952–8. doi:10.1086/342668. PMC 378549. PMID 12189593.
↑ Krakowiak PA, Wassif CA, Kratz L, et al. (July 2003). "Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency". Hum. Mol. Genet. 12 (13): 1631–41. doi:10.1093/hmg/ddg172. PMID 12812989.

Inborn error of steroid metabolism

Mevalonate pathway

HMG-CoA lyase deficiency

7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
CHILD syndrome
Conradi-Hünermann syndrome
Lathosterolosis
Smith-Lemli-Opitz syndrome

desmosterol path: Desmosterolosis

Corticosteroid
(including CAH)

aldosterone: Glucocorticoid remediable aldosteronism

To androgens	17-beta-hydroxysteroid dehydrogenase deficiency 5-alpha-reductase deficiency Pseudovaginal perineoscrotal hypospadias

To estrogens	Aromatase deficiency Aromatase excess syndrome

Other

X-linked ichthyosis
Antley-Bixler syndrome

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

M: END

anat/phys/devp/horm

noco (d)/cong/tumr, sysi/epon

proc, drug (A10/H1/H2/H3/H5)

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