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Summary
CHONDRODYSTROPHIA CALCIFICANS CONGENITA
CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC TYPE
215100
OMIM = Online Medalian Inheritance of Men
177
6q23.3
rare
autosomal recessive
mutation in the PEX7 gene
poor prognosis
symptoms
alopecia
cataract
congenital heart defect
contractures, joints
dysmorphism
femora, shortened
humeri, shortened
ichthyosis
infections (severe or recurrent)
limb abnormalities, limb deformities
lymyphedema
mental retardation
microcephaly
optic atrophy
punctate calcifications
seizures
short stature
skeletal changes
spastic diplegia/quadriplegia
X-ray, abnormalities
laboratory finding
Phytanic acid8.309.600.004.00-Ág/mlplasma
Dihydroxyacetone-phosphate acyltransferase (DHAPAT)0.404.403.2014.30nmol/2h/mg proteinfibroblasts
Alkyl-dihydroxyacetone-phosphate synthase 100.00decreased activityfibroblasts
Plasmalogens, biosynthesis
Alkyl-dihydroxyacetone-phosphate synthase
Phytanic acid oxidation
Literature
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Lamoril Jet al.Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyriaAm J Hum Genet6851130-11382001
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Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Gibson KMCraigen W, Herman GE, Jakobs CD-2-Hydroxyglutaric Aciduria in a Newborn with Neurological Abnormalities: A New Neurometabolic Disorder?J Inherit Metab Dis160497-5001993
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Kondo Met al.Porphyrias in Japan: compilation of all cases reported through 2002Int J Hematol795448-4562004
Spindler Aet al.Chronic idiopathic hyperphosphatasia. Report of a case treated with pamidronate and a review of the literatureJ Rheumatol194642-6451992
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Smith AJStrang LBAn inborn error of metabolism with urinary excretion of alpha--hydroxy-butyric acid and phenylpyruvic acidArch Dis Child330109-1131958
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Rabe Pet al.Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndromeAm J Med Genet410350-3541991