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Summary
CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT
CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT TYPE
302960
OMIM = Online Medalian Inheritance of Men
35173
Xp11.23
rare
X-linked dominant
lethal in males
symptoms
alopecia
cataract
dysmorphism
early death
failure to thrive
hyperkeratosis
ichthyosis
limb abnormalities, limb deformities
mental retardation
onset, infancy
onset, neonatal
punctate calcifications
saddle nose
short stature
skoliosis, kyphoskoliosis
X-ray, abnormalities
laboratory finding
8-Dehydrocholesterol increasedplasma
8(9)-cholestenol increasedplasma
Literature
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Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Syn WKAhmed MMGenetic haemochromatosis presenting as porphyria cutanea tardaInt J Clin Pract Suppl147048-502005
Wang PJet al.Hereditary progressive dystonia with marked diurnal fluctuation (Segawa syndrome) in TaiwanBrain Dev162126-1311994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Segawa Met al.Hereditary progressive dystonia with marked diurnal fluctuationsAdv Neurol140215-2331976
Kondo Met al.Porphyrias in Japan: compilation of all cases reported through 2002Int J Hematol795448-4562004
Andresen BSet al.Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD geneHum Mol Genet54461-4721996
Souri Met al.Mutation analysis of very-long.chain acyl-coenzyme A dehydrogenase (VLACD) deficiency: identification and characterization of mitant VLCAD cDNAs from four patients Am J Hum Genet58497-1061996