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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
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