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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 17000 mucolipidosis III Eponyms: Inheritance: GNPTA III pseudo-Hurler polydystrophy autosomal recessive Semeiological Artrho-cardio-facio-neuro-oculo-skeletal disorder. Stiffness, short stature, short trunk, coarse face, Hurler-like skeletal changes, multiple dysostosis, osteoporosis, corneal opacities, other ocular changes, normal Synthesis: liver/spleen, no acid mucopolysacchariduria. Group Sub group Signs: CARDIOVASCULAR DISORDERS aortic anomalies aortic valvular, anomalies DERMATOLOGICAL DISORDERS dermatitis acne JOINT DISORDERS joint, mobility reduction contractures, joint stifness, not including: arthrogriposis, camptodactyly LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 4q localization foetal-amniotic biochemical data N-acetylglucosamine-1-phosphotransferase , low activity (foetal) gene, structural-functional anomalies gene analysis-DNA analysis GNPTA UDPN-acetylglucosamine -enzyme Nacetylglucosaminephosphotransferase, gene chr.4q21-q23 tissue, biochemical changes acid hydrolase, low activity glycoprotein, degradation oligosaccharidoses, disorders of glycosylation lysosomal disorders N-acetylglucosamine-1-phosphotransferase , low activity MUSCULAR DISEASES muscular defects, distrectual hernia, inguinal NEUROLOGICAL DISORDERS mental retardation mental retardation OCULAR DISORDERS choroidoretinal defects retinal vascular anomalies, retinal hemorrhages, angioid streaks corneal defects not including dystrophy corneal clouding OROCRANIOFACIAL ANOMALIES facies, modified appearance dysmorphic face facies, coarse mandibular changes prognathism, prognathia, prominent jaw neck, modified appearance neck, short OTHERS mucolipidosis III Page 1 of 3 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database inheritance inheritance, autosomal recessive supergroups arthro-facio-skeletal disorders arthro-neuro-skeletal disorders cardio-cutaneous-facio disorders cardio-cutaneous-oculo disorders cardio-facio-neuro-skeletal disorders cutaneous-facio-neuro-oculo disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, metabolic SKELETAL DISORDERS elbow, anomalies elbow, ankylosis femur, anomalies femoral head, anomaly knee, anomalies knee ankylosis pelvis, changes ilium, iliac wings dysplasia sella turcica, changes sella turcica, J shaped shoulders, changes shoulders, hypomobility spine, changes hyperlordosis platyspondily, including short spine stature, growth, modified habitus growth delayed, failure to thrive, growth retardation stature, short, including micromelia, including short limbs Super group: arthro-facio-skeletal disorders arthro-neuro-skeletal disorders cardio-cutaneous-facio disorders cardio-cutaneous-ocular disorders cardio-facio-neuro-skeletal disorders cardio-facio-skeletal disorders cutaneous-facio-neuro-ocular disorders dysmorphic face-mental retardation: metabolic disorders dysmorphic face-mental retardation: ocular disorders dysmorphic face-mental retardation: skeletal disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: METABOLIC DISORDERS glycoprotein, degradation oligosaccharidoses, disorders of glycosylation lysosomal disorders OTHER dysmorphic face Differential diagnosis: mucolipidosis III 1460 2420 2430 10210 10330 10335 10390 10400 amyloid neuropathy II aspartylglycosaminuria asphyxiating thoracic dystrophy fucosidosis I galactosialidosis, infantile, late type galactosialidosis, juvenile type gangliosidosis GM1-I gangliosidosis GM1-II Page 2 of 3 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 14140 15590 16989 16990 17001 28738 17050 17080 17160 17980 18330 18340 18350 28797 18360 18370 28642 23160 23782 23783 23140 Kozlowski-Tsuruta syndrome mannosidosis mucolipidosis I mucolipidosis II mucolipidosis III, variant form mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis VI Murray syndrome nephrosialidosis Niemann-Pick A Niemann-Pick B Niemann-Pick C Niemann-Pick C2 Niemann-Pick D-E Niemann-Pick F phosphodiester glycosidase deficiency Sandhoff disease sialidosis I sialidosis II sialuria French type Aggregation(s) [in differential diagnosis]: - mucopolysaccharidoses Bibliography mucolipidosis III OMIM ID: 252600 Smith's Recognizable Patterns of Human Malformation. 6th Edition pag. 522-523 Wiedemann H.R.-Kunze J.: Clinical Syndromes , Mosby-Wolfe Ed. 1997 pag. 146-147 Spranger JW, Brill PW, Poznanski A: Bone Dysplasias 2nd Ed. 300-303 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.24222426,2007 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.747766,2007 Page 3 of 3
