Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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
SAA1
TNFRSF1A
Finnish type Amyloidosis
GSN
Hereditary renal amyloidosis
APOA1
Apolipoprotein A-2 amyloidosis
APOA2
B2M
CST3
FGA
LYZ
Hyperoxaluria
Lysinuric protein intolerance

References:

1.

Glenner GG et al. (1984) Alzheimer's disease: initial report of the purification and characterization of a novel cerebrovascular amyloid protein.

external link
2.

Lachmann HJ et al. (2002) Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.

external link
3.

Valleix S et al. (2012) Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.

external link
4.

None (1985) The United Kingdom Medical Research Council's glomerulonephritis registry.

external link
5.

Benson MD et al. (1993) Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.

external link
6.

Uemichi T et al. (1994) Hereditary renal amyloidosis with a novel variant fibrinogen.

external link
7.

Uemichi T et al. (1996) A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis.

external link
8.

Hamidi Asl L et al. (1997) Renal amyloidosis with a frame shift mutation in fibrinogen aalpha-chain gene producing a novel amyloid protein.

external link
9.

Sipilä K et al. (2002) Database for the mutations of the Finnish disease heritage.

external link
10.

Haltia M et al. (1992) Gelsolin gene mutationat codon 187in familial amyloidosis, Finnish: DNA-diagnostic assay.

external link
11.

Paunio T et al. (1992) Solid-phase minisequencing test reveals Asp187--Asn (G654--A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis.

external link
12.

de la Chapelle A et al. (1992) Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family.

external link
13.

Maury CP et al. (1990) Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline.

external link
14.

Haltia M et al. (1990) Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin.

external link
15.

Maury CP et al. (1990) Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.

external link
16.

None (1973) Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy.

external link
17.

Purcell JJ et al. (1983) Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome).

external link
18.

Sack GH et al. (1981) Three forms of dominant amyloid neuropathy.

external link
19.

None (1993) Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin.

external link
20.

Granel B et al. (2005) Underdiagnosed amyloidosis: amyloidosis of lysozyme variant.

external link
21.

Zalin AM et al. (1991) Familial nephropathic non-neuropathic amyloidosis: clinical features, immunohistochemistry and chemistry.

external link
22.

Pepys MB et al. (1993) Human lysozyme gene mutations cause hereditary systemic amyloidosis.

external link
23.

Ceccherini I et al. (1994) Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis.

external link
24.

Hofstra RM et al. (1996) RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia.

external link
25.

Seri M et al. (1997) A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis.

external link
26.

Uemichi T et al. (1999) Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64.

external link
27.

Hund E et al. (2001) Transthyretin-associated neuropathic amyloidosis. Pathogenesis and treatment.

external link
28.

None (2001) Transthyretin mutations in hyperthyroxinemia and amyloid diseases.

external link
29.

Ikeda S et al. (2002) Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity.

external link
30.

Blevins G et al. (2003) Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His.

external link
31.

None (1952) A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves.

external link
32.

Jacobson DR et al. (1992) Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.

external link
33.

KAUFMAN HE et al. (1959) Vitreous opacities diagnostic of familial primary amyloidosis.

external link
34.

Ray SS et al. (2004) A possible therapeutic target for Lou Gehrig's disease.

external link
35.

Sekijima Y et al. (2005) The biological and chemical basis for tissue-selective amyloid disease.

external link
36.

Liu YT et al. (2008) Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression.

external link
37.

None (1991) Inherited amyloidosis.

external link
38.

Benson MD et al. (1977) Generalized amyloid in a family of Swedish origin. A study of 426 family members in seven generations of a new kinship with neuropathy, nephropathy, and central nervous system involvement.

external link
39.

Hagiwara K et al. (2009) Highly selective leptomeningeal amyloidosis with transthyretin variant Ala25Thr.

external link
40.

Yang NC et al. (2010) Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser.

external link
41.

Westermark P et al. (1990) Fibril in senile systemic amyloidosis is derived from normal transthyretin.

external link
42.

Ikeda S et al. (1987) Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients.

external link
43.

Sequeiros J et al. (1987) Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy-type I (Portuguese, Andrade).

external link
44.

Uitti RJ et al. (1988) Familial oculoleptomeningeal amyloidosis. Report of a new family with unusual features.

external link
45.

Holmgren G et al. (1988) Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy.

external link
46.

Furuya H et al. (1987) Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs.

external link
47.

Mahloudji M et al. (1969) The genetic amyloidoses with particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type).

external link
48.

Wong VG et al. (1967) Primary familial amyloidosis.

external link
49.

Saraiva MJ et al. (1984) Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin).

external link
50.

None (1981) Partial amino acid sequence homology between an heredofamilial amyloid protein and human plasma prealbumin.

external link
51.

Dalakas MC et al. (1981) Amyloid in hereditary amyloid polyneuropathy is related to prealbumin.

external link
52.

Goren H et al. (1980) Familial oculoleptomeningeal amyloidosis.

external link
53.

Ducla-Soares J et al. (1994) Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type.

external link
54.

Holmgren G et al. (1994) Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate.

external link
55.

Coelho T et al. (1994) A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.

external link
56.

Drugge U et al. (1993) Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.

external link
57.

Vidal R et al. (1996) Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G)

external link
58.

Herrick MK et al. (1996) Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene.

external link
59.

Garzuly F et al. (1996) Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly)

external link
60.

Jacobson DR et al. (1997) Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans.

external link
61.

Petersen RB et al. (1997) Transthyretin amyloidosis: a new mutation associated with dementia.

external link
62.

Koo EH et al. (1999) Amyloid diseases: abnormal protein aggregation in neurodegeneration.

external link
63.

Altland K et al. (1999) Potential treatment of transthyretin-type amyloidoses by sulfite.

external link
64.

Alexander F et al. (1975) Familial renal amyloidosis. Case reports, literature review and classification.

external link
65.

None (2001) Amyloidosis: a convoluted story.

external link
66.

Vella FS et al. (2002) Glaucoma in primary amyloidosis: a fortuitous or causative association?

external link
67.

None (1992) Familial amyloidosis of the Finnish type (FAF). A clinical study of 30 patients.

external link
68.

SAGHER F et al. (1963) Amyloidosis cutis. Familial occurrence in three generations.

external link
69.

MUNSAT TL et al. (1962) Clinical manifestations and diagnosis of amyloid polyneuropathy. Report of three cases.

external link
70.

Reixach N et al. (2004) Tissue damage in the amyloidoses: Transthyretin monomers and nonnative oligomers are the major cytotoxic species in tissue culture.

external link
71.

Koike H et al. (2004) Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy.

external link
72.

Lin MW et al. (2005) Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23.

external link
73.

Ando Y et al. (2005) Transthyretin-related familial amyloidotic polyneuropathy.

external link
74.

Holmgren G et al. (1991) Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30).

external link
75.

Sandgren O et al. (1991) Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study.

external link
76.

Lee DD et al. (2006) Genome-wide scan identifies a susceptibility locus for familial primary cutaneous amyloidosis on chromosome 5p13.1-q11.2.

external link
77.

Dowell JD et al. (2007) Familial oculoleptomeningeal amyloidosis associated with primary angiitis of the CNS.

external link
78.

Arita K et al. (2008) Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.

external link
79.

Starck T et al. (1991) Clinical and histopathologic studies of two families with lattice corneal dystrophy and familial systemic amyloidosis (Meretoja syndrome).

external link
80.

Tanaka A et al. (2009) New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis.

external link
81.

Lin MW et al. (2010) Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis.

external link
82.

Yi S et al. (1991) Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (Met30) gene. Pathologic similarity to human familial amyloidotic polyneuropathy, type I.

external link
83.

Okayama M et al. (1978) Primary amyloidosis with familial vitreous opacities: an unusual case and family.

external link
84.

Bodin K et al. (2010) Antibodies to human serum amyloid P component eliminate visceral amyloid deposits.

external link
85.

Boysen G et al. (1979) Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.

external link
86.

Coelho T et al. (2013) Safety and efficacy of RNAi therapy for transthyretin amyloidosis.

external link
87.

Costa PP et al. (1978) Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy.

external link
88.

Yamada M et al. (1987) "Sporadic" prealbumin-related amyloid polyneuropathy: report of two cases.

external link
89.

Ueno S et al. (1988) 'Nonprealbumin-related' familial amyloid polyneuropathy.

external link
90.

Meretoja J et al. (1978) Partial characterization of amyloid proteins in inherited amyloidosis with lattice corneal dystrophy and in secondary amyloidosis.

external link
91.

None (1987) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 50-1987. A 43-year-old woman with hepatic failure after renal transplantation because of amyloidosis.

external link
92.

Tanaka M et al. (1988) Familial amyloidotic polyneuropathy without familial occurrence: carrier detection by the radioimmunoassay of variant transthyretin.

external link
93.

Darras BT et al. (1986) Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.

external link
94.

Newton JA et al. (1985) Familial primary cutaneous amyloidosis.

external link
95.

Glenner GG et al. (1971) Amyloid fibril proteins: proof of homology with immunoglobulin light chains by sequence analyses.

external link
96.

Winkelman JE et al. (1971) [An hereditary syndrome consisting of peripheral polyneuropathy, skin changes and lattice-shaped corneal dystrophy].

external link
97.

Coimbra A et al. (1971) Familial amyloid polyneuropathy: an electron microscope study of the peripheral nerve in five cases. I. Interstitial changes.

external link
98.

Coimbra A et al. (1971) Familial amyloid polyneuropathy: an electron microscope study of the peripheral nerve in five cases. II. Nerve fibre changes.

external link
99.

Glenner GG et al. (1974) Beta-pleated sheet fibrils. A comparison of native amyloid with synthetic protein fibrils.

external link
100.

Weiss SW et al. (1973) Amyloid nephropathy of Ostertag with special reference to renal glomerular giant cells.

external link
101.

Rajagopalan K et al. (1972) Familial lichen amyloidosis. Report of 19 cases in 4 generations of a Chinese family in Malaysia.

external link
102.

None (1971) Unusual cause of vitreous opacities. Primary familial amyloidosis.

external link
103.

Shanon J et al. (1970) Interscapular cutaneous amyloidosis.

external link
104.

Libbey CA et al. (1984) Familial amyloid polyneuropathy. Demonstration of prealbumin in a kinship of German/English ancestry with onset in the seventh decade.

external link
105.

None (1984) Familial lichen amyloidosis.

external link
106.

None (1981) Primary familial cutaneous amyloidosis. a study of HLA antigens in a Puerto Rican family.

external link
107.

Cornwell GG et al. (1981) Senile cardiac amyloid: evidence that fibrils contain a protein immunologically related to prealbumin.

external link
108.

Lanham JG et al. (1982) Familial amyloidosis of Ostertag.

external link
109.

Mornaghi R et al. (1982) Familial renal amyloidosis: case reports and genetic studies.

external link
110.

Mornaghi R et al. (1981) Studies on the pathogenesis of a familial form of renal amyloidosis.

external link
111.

Ando Y et al. (1995) Change in variant transthyretin levels in patients with familial amyloidotic polyneuropathy type I following liver transplantation.

external link
112.

Kiuru S et al. (1994) Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF).

external link
113.

Ando Y et al. (1994) Role of nitric oxide in the peripheral vessels of patients with familial amyloidotic polyneuropathy (FAP) type I.

external link
114.

Holmgren G et al. (1993) Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis.

external link
115.

Akiya S et al. (1996) Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV.

external link
116.

Lee DD et al. (1996) Genetic heterogeneity of familial primary cutaneous amyloidosis: lack of evidence for linkage with the chromosome 10 pericentromeric region in Chinese families.

external link
117.

Eng AM et al. (1976) Familial generalized dyschromic amyloidosis cutis.

external link
118.

OMIM.ORG article

Omim 105250 external link
119.

Orphanet article

Orphanet ID 69 external link
120.

Wikipedia article

Wikipedia EN (Amyloid) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits