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Autosomal dominant beta2-microglobulinic amyloidosis
1 associated gene
13 connected diseases
No signs/symptoms info
Disease Type of connection
Immunodeficiency by defective expression of HLA class 1
Familial isolated dilated cardiomyopathy
Porphyria cutanea tarda
Porphyria variegata
Chorioretinopathy, Birdshot type
Lethal congenital contracture syndrome type 2
Alpha-crystallinopathy
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Zonular cataract
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
B2M P61769109700
No signs/symptoms info available.