Hydrops-ectopic calcification-moth-eaten skeletal dysplasia

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Classification and external resources
OMIM 215140

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis.[1]

It is also known as "Greenberg dysplasia".[2] Greenberg characterized the condition in 1988.[3]

It has been associated with the lamin B receptor.[4]

See also

References

  1. ^ Herman GE (April 2003). "Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes". Hum. Mol. Genet.. 12 Spec No 1: R75–88. PMID 12668600. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=12668600. 
  2. ^ Trajkovski Z, Vrcakovski M, Saveski J, Gucev ZS (September 2002). "Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature". Am. J. Med. Genet. 111 (4): 415–9. doi:10.1002/ajmg.10578. PMID 12210303. 
  3. ^ Greenberg CR, Rimoin DL, Gruber HE, DeSa DJ, Reed M, Lachman RS (March 1988). "A new autosomal recessive lethal chondrodystrophy with congenital hydrops". Am. J. Med. Genet. 29 (3): 623–32. doi:10.1002/ajmg.1320290321. PMID 3377005. 
  4. ^ Konstantinidou A, Karadimas C, Waterham HR, et al. (April 2008). "Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia". Prenat. Diagn. 28 (4): 309–12. doi:10.1002/pd.1976. PMID 18382993. 
Mevalonate pathway
To cholesterol

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

desmosterol path: Desmosterolosis
Steroids
Corticosteroid
(including CAH)
Other

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)