Disease #02730 (ALS6 (sclerosis, lateral, amyotrophic, type type 6 (ALS6)), OMIM:608030)

Official abbreviation	ALS6
Name	sclerosis, lateral, amyotrophic, type type 6 (ALS6)
OMIM ID	608030
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	55
Phenotype entries for this disease	1
Associated with 1 gene	FUS
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +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.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	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'
!=""	Text	!=""	all entries with this field not empty
!=""	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
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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55 entries on 1 page. Showing entries 1 - 55.

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
00149556	-	-	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	ALS6	-	FUS	FUS	1	15	Marc Cruts
00149557	-	-	-	-	-	-	white	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149558	-	-	-	-	-	-	white	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149559	-	-	-	-	-	-	white	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149560	-	-	-	-	-	-	white	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149561	-	-	-	-	-	-	white	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149562	-	-	-	-	-	-	white	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149563	-	-	-	-	-	-	white	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149564	-	-	-	-	-	-	white	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149565	-	-	-	-	-	Cape Verde	African - Portugese	-	-	-	-	ALS6	-	FUS	FUS	1	4	Marc Cruts
00149566	-	-	-	-	-	United States	-	-	-	-	-	ALS6	-	FUS	FUS	1	13	Marc Cruts
00149567	-	-	-	-	-	-	-	-	-	-	-	ALS6	-	FUS	FUS	1	3	Marc Cruts
00149568	-	-	-	-	-	-	-	-	-	-	-	ALS6	-	FUS	FUS	1	2	Marc Cruts
00149569	-	-	-	-	-	-	-	-	-	-	-	ALS6	-	FUS	FUS	1	3	Marc Cruts
00149570	-	-	-	-	-	-	-	-	-	-	-	ALS6	-	FUS	FUS	1	2	Marc Cruts
00149571	-	-	-	-	-	-	-	-	-	-	-	ALS6	-	FUS	FUS	1	6	Marc Cruts
00149572	-	-	-	-	-	-	-	-	-	-	-	ALS6	-	FUS	FUS	1	3	Marc Cruts
00149573	-	-	-	-	-	-	-	-	-	-	-	ALS6	-	FUS	FUS	1	2	Marc Cruts
00149574	-	-	-	-	-	-	-	-	-	-	-	ALS6	-	FUS	FUS	1	2	Marc Cruts
00149575	-	-	-	-	-	-	-	-	-	-	-	ALS6	-	FUS	FUS	1	2	Marc Cruts
00149576	-	-	-	-	-	-	-	37y04m	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149577	-	-	-	-	-	-	-	22y06m	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149578	-	-	-	-	-	-	-	67y07m	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149579	-	-	-	-	-	-	-	-	-	-	-	ALS6	-	FUS	FUS	1	3	Marc Cruts
00149580	-	-	-	-	-	-	-	-	-	-	-	ALS6	-	FUS	FUS	2	2	Marc Cruts
00149581	-	-	-	-	-	-	-	-	-	-	-	ALS6	-	FUS	FUS	1	12	Marc Cruts
00149582	-	-	-	-	-	-	white (Italian)	32y11m	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149583	-	-	-	-	-	-	white (Italian)	30y	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149584	-	-	-	-	-	-	white (Italian)	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149585	-	-	-	-	-	-	white (Italian)	33y11m	-	-	-	ALS6	Dementia	FUS	FUS	1	1	Marc Cruts
00149586	-	-	-	-	-	-	white (Italian)	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149587	-	-	-	-	-	France	white	28y04m	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149588	-	-	-	-	-	Canada	white	56y06m	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149589	-	-	-	-	-	France	white	38y	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149590	-	-	-	-	-	France	white	80y10m	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149591	-	-	-	-	-	-	-	49y	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149592	-	-	-	-	-	-	-	39y	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149593	-	-	-	-	-	Japan	Asian	46y04m	-	-	-	ALS6	-	FUS	FUS	1	6	Marc Cruts
00149595	-	-	-	-	-	Belgium	white	56y07m	-	-	-	ALS6	-	FUS	FUS	1	6	Marc Cruts
00149647	-	-	-	-	-	Italy	white	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149648	-	-	-	-	-	Italy	white	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149659	-	-	-	-	-	Italy	white	31y	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149660	-	-	-	-	-	Italy	white	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149662	-	-	-	-	-	Italy	white	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149663	-	-	-	-	-	Italy	white	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149664	-	-	-	-	-	Italy	white	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149665	-	-	-	-	-	Italy	white	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149666	-	-	-	-	-	Italy	white	-	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149668	-	-	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	ALS6	-	FUS	-	-	3	Marc Cruts
00149669	-	-	-	-	-	Netherlands	white	-	-	-	-	ALS6	-	FUS	-	-	2	Marc Cruts
00149675	-	-	-	-	-	United States	-	22y	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149676	-	-	-	-	-	United States	-	66y	-	-	-	ALS6	-	FUS	FUS	1	1	Marc Cruts
00149678	-	-	-	-	-	Belgium	white	-	-	-	-	ALS6	-	FUS	FUS	1	3	Marc Cruts
00152018	-	-	-	-	-	-	-	-	-	-	-	ALS6	-	FUS	FUS	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00362030	176955	-	-	M	-	Germany	-	-	-	-	-	ALS6	(+) Amyotrophic lateral sclerosis,(+) Motor neuron atrophy; Slowly progressive motor neuron disease, 1 motor neuron: right accentuated increased MER of the arms, lateral differentiated abdominal skin reflexes, 2 motor neuron: progressive paresis/atrophy of the m. trapezius right, m. deltoideus right	FUS	FUS	1	1	Andreas Laner

Legend

How to query

Global Variome shared LOVD

ANXA11 (annexin A11)