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Transthyretin-related familial amyloid cardiomyopathy
1 OMIM reference -
1 associated gene
33 connected diseases
No signs/symptoms info
Disease Type of connection
Familial amyloid polyneuropathy
Dyssegmental dysplasia, Silverman-Handmaker type
Schwartz-Jampel syndrome
Apolipoprotein A-I deficiency
Familial renal amyloidosis due to Apolipoprotein AI variant
Primary systemic amyloidosis
Progressive retinal dystrophy due to retinol transport defect
Familial dysautonomia
Pulverulent cataract
Congenital analbuminemia
Donnai-Barrow syndrome
17p11.2 microduplication syndrome
Autosomal agammaglobulinemia
Autosomal recessive nonsyndromic intellectual deficit
B-cell chronic lymphocytic leukemia
Baraitser-Winter syndrome
Congenital atransferrinemia
Developmental malformations - deafness - dystonia
Early-onset autosomal dominant Alzheimer disease
Hepatic veno-occlusive disease - immunodeficiency
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Lissencephaly due to TUBA1A mutation
Monomelic amyotrophy
Monosomy 5p
SHORT syndrome
Smith-Magenis syndrome
Spinocerebellar ataxia with axonal neuropathy type 2
West syndrome
Synonym(s):
- ATTR cardiomyopathy
- TTR-related amyloid cardiomyopathy
- TTR-related cardiac amyloidosis
- Transthyretin amyloid cardiopathy
Classification (Orphanet):
- Rare cardiac disease
- 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: elderly
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TTR P02766176300
No signs/symptoms info available.