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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 22740 rickets vitamin D-dependent type 1 Eponyms: Inheritance: 25-hydroxycholecalciferol-1hydroxylase deficiency PDDR pseudovitamin D deficiency rickets VDD1 VDDR I autosomal recessive Semeiological Metabolic-neuro-skeletal disorder First year onset; hypotonia, weakness, growth failure, enamel defects, bony deformities, fractures, convulsions, tetany, diminished renal synthesis of 1,25-dihydroxyvitamin D. Synthesis: Group Sub group Signs: ENDOCRINOLOGICAL, METABOLIC DISORDERS parathyroid, changes hyperparathyroidism hypoparathyroidism LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 12q localization gene, structural-functional anomalies gene analysis-DNA analysis PDDR (VDD1) (CYP27B1) pseudo-vitamin D dependency rickets 1, gene chr.12q14 plasma electrolytes-inorganic constituents, modified functions calcium , low levels (hypocalcemia) plasma nonprotein-organic constituents, anomalies aminoacidemia, unspecified type vitamins, disorders plasma proteins, anomalies hormones, dysfunctions tissue, biochemical changes metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis urine, constituent changes aminoaciduria MUSCULAR DISEASES systemic muscular defects cramps, tetania hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy muscular dystrophy, myopathy NEUROLOGICAL DISORDERS neurological dysfunctions seizures, convulsions, epilepsy OROCRANIOFACIAL ANOMALIES teeth, modified structures teeth, enamel defects not including amelogenesis imperfecta OTHERS inheritance inheritance, autosomal recessive supergroups endocrino-neuro disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data rickets vitamin D-dependent type 1 Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database SKELETAL DISORDERS bones, lesions, structural changes bone, fractures not including: fractures in utero osteomalacia osteoporosis fontanelles-sutures,changes fontanelles, cranial sutures, closure delayed limb anomalies, limb defects bone, bowing, limbs bowed, camptomelia ossification, changes bone, mineralization disorders not including osteogenesis imperfecta osteopenia, bone hypodensity, demineralization of the bones, deficient ossification periosteal changes periosteal cloaking, rickets changes stature, growth, modified habitus growth delayed, failure to thrive, growth retardation stature, short, including micromelia, including short limbs Super group: endocrino-neuro disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: METABOLIC DISORDERS hormones, dysfunctions metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis vitamin disorders MUSCULAR DISORDERS muscular dystrophy, myopathy OSTEOCHONDRODYSTROPHY, OSTEOCHONDRODYSPLASIAS bone, mineralization disorders not including osteogenesis imperfecta 27417 3410 3530 13115 13120 22749 Differential diagnosis: 13130 16393 22738 22745 22751 22750 22735 28551 27422 26700 Bibliography Bellini osteochondrodysplasia Blount deformity bowing of long bones, congenital hypophosphatemia, Chitayat type hypophosphatemic bone disease hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets, autosomal recessive metaphyseal chondrodysplasiathymolymphopenia syndrome rickets hypophosphatemic with hypercalciuria rickets vitamin D-dependent type IIA, IIB rickets vitamin D-resistant II rickets, vitamin D-resistant I rickets-alopecia syndrome spondyloepimetaphyseal dysplasia, Shohat type spondylometaepiphyseal dysplasia, micromelic type Weismann Netter-Stuhl syndrome OMIM ID: 264700 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.23162318,2007 rickets vitamin D-dependent type 1 Page 2 of 2
