Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary amyloidosis

This group of hereditary disorders is characterized by amyloid deposition, an insoluable protein degradation product. Various organs can be affected including the kidneys.

Classification

Amyloidosis can be classified in hereditary, inflammatory, and neoplastic. Local and systemic forms may be distinguished. The the pathological and biochemical classification is based on fibrils. As this webpage only covers hereditary forms the classification is according the causative gene.

Systematic

Hereditary metabolic kidney disease
Fabry disease
Hereditary amyloidosis
ATTR amyloidosis
TTR
Amyloidosis, cerebroarterial
Amyloidosis, cerebroarterial, Britisch type
ITM2B
Amyloidosis, cerebroarterial, Danish type
ITM2B
Amyloidosis, cerebroarterial, Dutch type
APP
Amyloidosis, cerebroarterial, Icelandic type
CST3
Cryopyrin-associated periodic syndrome
CINCA syndrome
NLRP3
Familial cold autoinflammatory syndrome 1
NLRP3
Muckle-Wells syndrome
NLRP3
Familial mediterranean fever
MEFV
NOD2
SAA1
TNFRSF1A
Finnish type Amyloidosis
GSN
Hereditary renal amyloidosis
APOA1
Apolipoprotein A-2 amyloidosis
APOA2
B2M
CST3
FGA
LYZ
Hyperoxaluria
Lysinuric protein intolerance

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OMIM.ORG article

Omim 105250 [^]
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Orphanet article

Orphanet ID 69 [^]
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Wikipedia article

Wikipedia EN (Amyloid) [^]
Update: May 9, 2019