Disease #00522 (amyloidosis, visceral (type VIII), OMIM:105200)

Official abbreviation	-
Name	amyloidosis, visceral (type VIII)
OMIM ID	105200
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	3
Phenotype entries for this disease	2
Associated with 5 genes	APOA1, APOA2, B2M, FGA, LYZ
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
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Algeria
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American Samoa
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Andorra
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Angola
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Belgium
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Belize
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Bouvet Island
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Brazil
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British Indian Ocean Territory
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Brunei Darussalam
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Bulgaria
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Burkina Faso
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Burundi
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Cambodia
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Cameroon
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Canada
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Cape Verde
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Cayman Islands
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Central African Republic
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Central Europe
Chad
(Chad)
Chile
(Chile)
China
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Christmas Island
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Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
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Comoros
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Congo
(Congo)
Cook Islands
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Costa Rica
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Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
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Cuba
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Cyprus
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Ethiopia
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Fiji
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France
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Gabon
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Gambia
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Georgia
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Germany
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Guinea
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Guyana
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Ireland
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Italy
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Jamaica
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Japan
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Jordan
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Kazakhstan
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Kenya
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Kiribati
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Korea
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Korea, North (People's Republic)
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Korea, South (Republic)
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Kosovo
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Kyrgyzstan (Kyrgyz Republic)
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Laos
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Latvia
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Lesotho
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Liberia
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Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macau
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Malta
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Peru
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Poland
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Portugal
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Romania
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Russia
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Russian Federation
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Rwanda
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Saint Kitts and Nevis
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Saint Lucia
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Saint Vincent and The Grenadines
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Samoa
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San Marino
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Sao Tome and Principe
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Saudi Arabia
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Scotland
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Senegal
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Serbia
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Sierra Leone
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Singapore
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Slovakia (Slovak Republic)
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Slovenia
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Solomon Islands
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Soviet Union (former)
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Spain
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Sri Lanka
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St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
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Sudan
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Sudan, South
(Sudan, South)
Suriname
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Svalbard and Jan Mayen Islands
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Swaziland
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Sweden
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Switzerland
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Trinidad and Tobago
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Tunisia
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Turkey
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Turkmenistan
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Turks and Caicos Islands
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Tuvalu
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Uganda
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Ukraine
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United Arab Emirates
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United Kingdom (Great Britain)
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United States
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Uruguay
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US Minor Outlying Islands
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Vanuatu
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Virgin Islands (US)
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Wales
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Wallis and Futuna Islands
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Western Sahara
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Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. African, white, gypsy, jew (Ashkenazi), Sardinian, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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3 entries on 1 page. Showing entries 1 - 3.

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How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00019882	-	PubMed: De Gracia 2006	family, 6 affecteds (index, 4 sisters, nephew)	M	?	Spain	Caucasian	-	-	-	renal failure, amyloidosis, visceral (type VIII)	nephrotic syndrome, renal biopsy, revealing renal amyloidosis (IHC excluded AA type ); echocardiogram, electromyogram and liver examination ruled out extra-renal involvement	APOA2	APOA2	1	6	Johan den Dunnen
00019883	-	PubMed: Benson 2001	family, 4 affecteds (index, brother, mother, aunt)	M	-	United States	Caucasian	51y	-	-	amyloidosis, visceral (type VIII)	renal failure	APOA2	APOA2	1	4	Johan den Dunnen
00019987	-	PubMed: Valleix 2012, Journal: Valleix 2012	3-generation family, 5 affecteds (3F, 2M)	-	no	(France)	-	-	-	-	amyloidosis, visceral (type VIII)	see paper; GI tract involvement, autonomic neuropathy, Sicca syndrome	B2M	B2M	1	5	Johan den Dunnen

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How to query

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