Rare Disease Library

Hereditary ATTR amyloidosis

Familial TTR-related amyloidosis · Familial transthyretin-related amyloidosis

AA amyloidosis

Inflammatory amyloidosis · Reactive amyloidosis

AApoAI amyloidosis

Apolipoprotein A-I amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-I variant

AApoAII amyloidosis

Apolipoprotein A-II amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-II variant

AApoAIV amyloidosis

Apolipoprotein A-IV amyloidosis

ABeta amyloidosis, Arctic type

ABetaE22G amyloidosis · HCHWA, Arctic type

ABeta amyloidosis, Dutch type

HCHWA, Dutch type · HCHWA-D

ABeta amyloidosis, Iowa type

ABetaD23N amyloidosis · HCHWA, Iowa type

ABeta amyloidosis, Italian type

ABetaE22K amyloidosis · HCHWA, Italian type

ABeta2M amyloidosis

Beta2-microglobulinic amyloidosis

ABetaA21G amyloidosis

ABetaA21G-related amyloidosis · HCHWA, Flemish type

ABetaL34V amyloidosis

ABetaL34V-related amyloidosis · HCHWA, Piedmont type

ABri amyloidosis

Familial dementia, British type

ACys amyloidosis

CST3-related amyloidosis · Cystatin amyloidosis

ADan amyloidosis

Familial dementia, Danish type

AFib amyloidosis

Familial amyloid nephropathy due to fibrinogen A alpha-chain variant · Fibrinogen A alpha-chain amyloidosis

AGel amyloidosis

Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type

AH amyloidosis

Heavy chain amyloidosis

AL amyloidosis

Light-chain amyloidosis

ALECT2 amyloidosis

Leukocyte chemotactic factor-2 amyloidosis

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

ALys amyloidosis

Familial amyloid nephropathy due to lysozyme variant · Familial renal amyloidosis due to lysozyme variant

Amyloidosis

ATTRV122I amyloidosis

ATTRV122I-related amyloidosis

ATTRV30M amyloidosis

ATTRV30M-related amyloidosis · Hereditary ATTRV30M-related amyloidosis

Dehydrated hereditary stomatocytosis

Hereditary xerocytosis

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

Hereditary amyloidosis

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

Hereditary ataxia

Hereditary cerebral amyloid angiopathy

HCHWA · Hereditary cerebral hemorrhage with amyloidosis

Hereditary elliptocytosis

HE

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

Hereditary spherocytosis

Minkowski-Chauffard disease

ITM2B amyloidosis

ITM2B-related amyloidosis · ITM2B-related cerebral amyloid angiopathy

Lichen amyloidosis

Amyloid lichen · Lichen amyloidosus

Southeast Asian ovalocytosis

Hereditary ovalocytosis · Melanesian elliptocytosis

Wild type ATTR amyloidosis

ATTRwt amyloidosis · ATTRwt-related amyloidosis