Disease #00044 (FAF (amyloidosis, Finnish type (type V) (FAF)), OMIM:105120)

Official abbreviation	FAF
Name	amyloidosis, Finnish type (type V) (FAF)
OMIM ID	105120
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	24
Phenotype entries for this disease	24
Associated with 1 gene	GSN
Associated tissues	-
Disease features	-
Remarks	-
Date created	2012-08-30 17:21:32 +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
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

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.

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!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
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Example	Matches
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24 entries on 1 page. Showing entries 1 - 24.

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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
00019991	-	PubMed: Sethi 2013	-	F	?	United States	white	-	-	-	-	FAF	see paper; chronic kidney disease, anemia; medical history significant for hypertension, rheumatoid arthritis, gout	GSN	GSN	1	1	Johan den Dunnen
00019992	-	PubMed: de la Chapelle 1992	family	-	-	Denmark	-	-	-	-	-	FAF	see paper	GSN	GSN	1	1	Johan den Dunnen
00019993	-	PubMed: Maury 1990, Journal: Maury 1990	3-generation family, 7 affecteds, 1 unaffected carrier	-	-	Finland	-	-	-	-	-	FAF	-	GSN	GSN	1	8	Johan den Dunnen
00019994	-	PubMed: Maury 1990, Journal: Maury 1990	5 unrelated patients	-	-	Finland	-	-	-	-	-	FAF	-	GSN	GSN	1	5	Johan den Dunnen
00019995	-	PubMed: Levy 1990, Journal: Levy 1990	5 unrelated patients	-	-	Finland	-	-	-	-	-	FAF	-	GSN	GSN	1	5	Johan den Dunnen
00019996	-	PubMed: Hiltunen 1991	6-generation family, 22 affecteds (13F, 9M)	-	-	Finland	-	-	-	-	-	FAF	familial amyloidosis of Finnish type (FAF)	GSN	GSN	1	22	Johan den Dunnen
00019997	-	PubMed: Hiltunen 1991	4-generation family, 8 affecteds (4F, 4M)	-	-	Finland	-	-	-	-	-	FAF	familial amyloidosis of Finnish type (FAF)	GSN	GSN	1	8	Johan den Dunnen
00019998	-	PubMed: Hiltunen 1991	4-generation family, 15 affecteds (9F, 6M)	-	-	Finland	-	-	-	-	-	FAF	familial amyloidosis of Finnish type (FAF)	GSN	GSN	1	15	Johan den Dunnen
00019999	-	PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992	6 families, 17 affecteds	-	-	Finland	-	-	-	-	-	FAF	familial amyloidosis of Finnish type (FAF)	GSN	GSN	1	17	Johan den Dunnen
00020000	-	PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992	4-generation family, 4 affecteds (2F, 2M)	-	-	United States	Scotland;Ireland	-	-	-	-	FAF	see paper	GSN	GSN	1	4	Johan den Dunnen
00020001	-	PubMed: Maury 1992	2-generation family, 5 affecteds, 3 heterozygous (2F, M)	-	-	Finland	-	-	-	-	-	FAF	see paper; familial amyloidosis of Finnish type (FAF)	GSN	GSN	1	3	Johan den Dunnen
00020002	-	PubMed: Maury 1992	2-generation family, 5 affecteds, 2 homozygous females	F	-	Finland	-	-	-	-	-	FAF	see paper; early onset and severe familial amyloidosis of Finnish type (FAF)	GSN	GSN	1	2	Johan den Dunnen
00020003	-	PubMed: Gorevic 1991	2-generation family, father and daugther	-	-	United States	Ireland	-	-	-	-	FAF	see paper; father lattice corneal dystrophy, bilateral facial-nerve palsies, amyloid in corneal tissue; daugther lattice corneal dystrophy	GSN	GSN	1	22	Johan den Dunnen
00020004	-	PubMed: Taira 2012	4-generation family, 2 affecteds	-	-	Japan	-	-	-	-	-	FAF	see paper	GSN	GSN	1	22	Johan den Dunnen
00020005	-	PubMed: Taira 2012	3-generation family, 1 affected	-	-	Japan	-	-	-	-	-	FAF	see paper	GSN	GSN	1	1	Johan den Dunnen
00020006	-	PubMed: Taira 2012	5-generation family, 4 affecteds	-	-	Japan	-	-	-	-	-	FAF	see paper	GSN	GSN	1	4	Johan den Dunnen
00020007	-	PubMed: Taira 2012	4-generation family, 17 affecteds	-	-	Japan	-	-	-	-	-	FAF	see paper	GSN	GSN	1	17	Johan den Dunnen
00020008	-	PubMed: Taira 2012	4-generation family, 3 affected	-	-	Japan	-	-	-	-	-	FAF	see paper	GSN	GSN	1	3	Johan den Dunnen
00020009	-	PubMed: Gonzalez-Rodriguez 2014	-	-	-	Mexico	-	-	-	-	-	FAF	see paper, Finnish type corneal amyloidosis	GSN	GSN	1	1	Johan den Dunnen
00020010	-	PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992	-	-	-	Netherlands	-	-	-	-	-	FAF	see paper	GSN	GSN	1	1	Johan den Dunnen
00020011	-	PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992	-	-	-	Czech Republic	-	-	-	-	-	FAF	see paper	GSN	GSN	1	1	Johan den Dunnen
00020012	-	PubMed: Solari 2011, Journal: Solari 2011	2-generation family, 2 affected brothers	-	-	Brazil	-	-	-	-	-	FAF	see paper	GSN	GSN	1	2	Johan den Dunnen
00020013	-	PubMed: Chastan 2006, Journal: Chastan 2006	4-generation family, 4 affecteds (2F, 2M)	-	-	France	-	-	-	-	-	FAF	see paper, familial amyloidosis of Finnish type (FAF), severe cardiac conduction alterations	GSN	GSN	1	4	Johan den Dunnen
00020014	-	PubMed: Stewart 2000, Journal: Stewart 2000	4-generation family, 6 affecteds (2F, 4M)	-	-	United Kingdom (Great Britain)	-	-	-	-	-	FAF	see paper, late onset lattice corneal dystrophy	GSN	GSN	1	6	Johan den Dunnen

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