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Copyright V. Ventruto / A. Di Luccio
Genus database
10500
Gaucher, juvenile noncerebral type
Eponyms:
Inheritance:
acid beta-glucosidase deficiency
Gaucher I
Gaucher, chronic, visceral form
GBA noncerebral
GD I
glucocerebrosidase deficiency
autosomal recessive
Semeiological Cutaneous-metabolic-neuro-skeletal disorder. Hepatosplenomegaly, pain joints/bones, fractures, myoclonus,
aseptic necrosis, scleral pingueculae, abnormal pigmentations.
Synthesis:
Group
Sub group
Signs:
DERMATOLOGICAL DISORDERS
pigmentation changes
cutis, hyperpigmentation
GASTROINTESTINAL DISORDERS
liver dysfunctions, liver anomalies
hepatomegaly, liver enlarged
HEMOPOIETIC-LYMPHORETICULAR SYSTEM
DISORDERS
coagulation disorders, including platelet changes
thrombopenia, thrombopathy, platelet
reduction, thrombocytopenia
spleen, anomalies
splenomegaly, hepatosplenomegaly
JOINT DISORDERS
joint, changes, not including laxity and
contractures
joint swelling, enlarged, prominent
LABORATORY DATA
biochemical markers
metabolic defect
chromosomal assignment
chromosome 1q localization
fibroblasts, changes
metachromasia
foetal-amniotic biochemical data
glucosylceramide-beta-glucosidase , low
activity (foetal)
gene, structural-functional anomalies
GBA glucosidase beta, acid, gene chr.1q21
gene analysis-DNA analysis
glucocerebrosidase gene
lymphoreticular system, changes
monocytes-macrophage disorders
myelo-erythropoietic disorders
anaemia, no haemolytic
plasma proteins, anomalies
immune and immune-complex disease
tissue, biochemical changes
fibroblasts, changes
glucocerebrosidase lysosomal , low activity
lysosomal disorders
MUSCULAR DISEASES
systemic muscular defects
muscular pain
NEUROLOGICAL DISORDERS
basal ganglia, disorders
myoclonus, including jerks
brain anomalies
Gaucher, juvenile noncerebral type
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Copyright V. Ventruto / A. Di Luccio
Genus database
hydrocephalus not including: aquaeductal
stenosis and Dandy Walker
OCULAR DISORDERS
corneal defects not including dystrophy
corneal fractures
sclera, changes
sclera deposits, pigmentation
OTHERS
inheritance
inheritance, autosomal recessive
supergroups
arthro-neuro-skeletal disorders
gastrointestinal-oculo-skeleal disorders
hemato-neuro disorders
PRENATAL-NEONATAL MODIFIED DATA
foetal changes
foetal changes, recognized by laboratory data
prenatal diagnosis
foetal biopsy
prenatal diagnosis, metabolic
prenatal diagnosis, molecular
RESPIRATORY DISORDERS
respiratory structures, thorax defect
lung fibrosis
SKELETAL DISORDERS
bones, lesions, structural changes
aseptic necrosis not including: osteolysis,
osteochondritis dissaccans
bone cysts, osteoma, osteochondroma,
bones tumefations
bone, fractures not including: fractures in utero
bone, harris lines, streaking, rarefaction,
including brittle bone
osteoporosis
diaphyseal changes
medullary shaft broad
ossification, changes
osteopenia, bone hypodensity,
demineralization of the bones, deficient
ossification
periosteal changes
periosteal reaction, rachitic-like rosary
Super group:
arthro-neuro-skeletal disorders
gastrointestinal-oculo-skeletal disorders
hemato-neuro disorders
Super aggreg. FOETAL CHANGES
foetal changes, recognized by laboratory data
Aggregations:
METABOLIC DISORDERS
immune and immune-complex diseases
lysosomal disorders
Differential
diagnosis:
Gaucher, juvenile noncerebral type
10390
10504
28504
13830
18330
18340
18350
28797
18360
18370
gangliosidosis GM1-I
Gaucher disease, variant type
Gaucher-like disease
Keats-Holt syndrome
Niemann-Pick A
Niemann-Pick B
Niemann-Pick C
Niemann-Pick C2
Niemann-Pick D-E
Niemann-Pick F
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Copyright V. Ventruto / A. Di Luccio
Genus database
Bibliography
OMIM ID: 230800
OMIM ID: 606463
Wiedemann H.R.-Kunze J.: Clinical Syndromes , Mosby-Wolfe Ed. 1997 pag. 342-343
Annuario Orphanet-Italia delle Malattie Rare, 2005 pag.393
Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.24612463,2007
Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.747766,2007
Gaucher, juvenile noncerebral type
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