Autosomal recessive hereditary disorder
Osteopetrosis
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Infantile malignant osteopetrosis (disorder)
Infantile malignant osteopetrosis
Congenital osteopetrosis
Autosomal recessive malignant osteopetrosis
Marble bone disease
Autosomal recessive lethal osteopetrosis
A rare congenital disorder of bone resorption characterized by generalized skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive.
infantiele maligne osteopetrose
Id367489004
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsOsteoclast turnover rate
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ78.2
RuleTRUE
AdviceALWAYS Q78.2
CorrelationSNOMED CT source code to target map code correlation not specified