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Pathway Description
Chondrodysplasia Punctata II, X-Linked Dominant (CDPX2)
Homo sapiens
Disease Pathway
Chondrodysplasia Punctata 2, X Linked Dominant (CDPX2; CPDXD; CPXD; Conradi-Hunermann Syndrome; Happle Syndrome; Conradi-Hunermann-Happle Syndrome is caused by a mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein (EBP). EBP contains the code for the enzyme 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase, which normally catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers. A defect in this enzyme causes accumulation of 8-dehydrocholesterol and 8(9)cholestenol in the plasma. Symptoms include alopecia, dysmorphism, hyperkeratosis, ichthyosis, kyphoscoliosis, limb abnormalities and deformities, and mental retardation.
References
Chondrodysplasia Punctata II, X-Linked Dominant (CDPX2) References
[OMIM: Entry 302960](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302960)
[Metagene: mp=CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT](http://www.metagene.de/program/d.prg?mp=CHONDRODYSPLASIA%20PUNCTATA,%20X-LINKED%20DOMINANT)
Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V: Two novel EBP mutations in Conradi-Hunermann-Happle syndrome. Eur J Dermatol. 2008 Jul-Aug;18(4):391-3. doi: 10.1684/ejd.2008.0433. Epub 2008 Jun 23.
Pubmed: 18573709
Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D: Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nat Genet. 1999 Jul;22(3):291-4. doi: 10.1038/10357.
Pubmed: 10391219
Herman GE: Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R75-88.
Pubmed: 12668600
Sutphen R, Amar MJ, Kousseff BG, Toomey KE: XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome) Am J Med Genet. 1995 Jul 3;57(3):489-92. doi: 10.1002/ajmg.1320570326.
Pubmed: 7677157
Martanova H, Krepelova A, Baxova A, Hansikova H, Cansky Z, Kvapil M, Gregor V, Magner M, Zeman J: X-linked dominant chondrodysplasia punctata (CDPX2): multisystemic impact of the defect in cholesterol biosynthesis. Prague Med Rep. 2007;108(3):263-9.
Pubmed: 18399064
Steroid Biosynthesis References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Norman, A.W, and Litwack, G. Hormones (2nd ed.) (1997) San Diego : Academic Press.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Vance, D.E., and Vance, J.E. Biochemistry of lipids, lipoproteins, and membranes (4th ed.) (2002) Amsterdam; Boston: Elsevier.
Simons J: The $10 billion pill. Fortune. 2003 Jan 20;147(1):58-62, 66, 68.
Pubmed: 12602122
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