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	Autosomal dominant
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	-
Date created	2014-09-12 13:43:49 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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
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Albania
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Algeria
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Brazil
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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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Central African Republic
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Central Europe
Chad
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Chile
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China
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Christmas Island
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Cocos (Keeling Islands)
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Colombia
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Comoros
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Congo
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Cook Islands
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Cote D'Ivoire (Ivory Coast)
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Croatia (Hrvatska)
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Cuba
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Cyprus
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Germany
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Italy
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Kenya
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Korea, North (People's Republic)
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Latvia
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Malawi
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Malaysia
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Mali
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Romania
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Cunha
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Cunha)
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Sudan
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Tanzania
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Thailand
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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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Wales
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Western Sahara
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Yemen
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Yugoslavia
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Zaire
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Zambia
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Zimbabwe
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Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, 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.

How to query this table

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Operator	Column type	Example	Matches
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\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
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!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
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Example	Matches
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3 entries on 1 page. Showing entries 1 - 3.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	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	white	-	-	-	-	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	white	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

Global Variome shared LOVD

AQP3 (aquaporin 3 (Gill blood group))