Mu heavy-chain disease
General Information (adopted from Orphanet):
Synonyms, Signs: |
mu-HCD |
Number of Symptoms | 9 |
OrphanetNr: | 100024 |
OMIM Id: |
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ICD-10: |
C88.2 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
61493004 |
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
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Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Heavy chain disease
-Rare hematologic disease -Rare oncologic disease |
Symptom Information:
|
(HPO:0000093) | Proteinuria | Frequent [Orphanet] | 169 / 7739 | |||
|
(HPO:0000112) | Nephropathy | Occasional [Orphanet] | 92 / 7739 | |||
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(HPO:0002797) | Osteolysis | Occasional [Orphanet] | 68 / 7739 | |||
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(HPO:0004349) | Reduced bone mineral density | Occasional [Orphanet] | 165 / 7739 | |||
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(HPO:0001744) | Splenomegaly | Very frequent [Orphanet] | 337 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0012145) | Abnormality of multiple cell lineages in the bone marrow | Very frequent [Orphanet] | 11 / 7739 | |||
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(HPO:0001903) | Anemia | Frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0002716) | Lymphadenopathy | Frequent [Orphanet] | 129 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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