loading...| Preferred Name |
Infantile malignant osteopetrosis |
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| Synonyms |
Congenital osteopetrosis Autosomal recessive lethal osteopetrosis Infantile malignant osteopetrosis (disorder) Autosomal recessive malignant osteopetrosis Marble bone disease |
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| Definitions |
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. A rare congenital disorder of bone resorption characterised by generalised 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. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/367489004 |
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| Active |
1 |
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| altLabel |
Congenital osteopetrosis Autosomal recessive lethal osteopetrosis Infantile malignant osteopetrosis (disorder) Autosomal recessive malignant osteopetrosis Marble bone disease |
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| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
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| CTV3ID |
XUDKJ |
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| cui |
C0029454 C1318518 |
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| definition |
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. A rare congenital disorder of bone resorption characterised by generalised 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. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20020131 |
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| Has associated morphology | ||
| Has clinical course | ||
| Has finding site | ||
| Has interpretation | ||
| Has pathological process | ||
| INACTIVATION INDICATOR |
900000000000494007 |
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| interprets | ||
| notation |
367489004 |
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| Occurs in | ||
| prefLabel |
Infantile malignant osteopetrosis |
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| Subset member |
447562003~MAPRULE~TRUE 900000000000497000~MAPTARGET~XUDKJ 900000000000490003~VALUEID~900000000000494007 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~MAPTARGET~Q78.2 447562003~MAPADVICE~ALWAYS Q78.2 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPTARGET~Q78.2 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~ALWAYS Q78.2 |
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| tui |
T047 T019 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |