Disease #02143 (ALD (adrenoleukodystrophy (ALD)), OMIM:300100)

Official abbreviation	ALD
Name	adrenoleukodystrophy (ALD)
OMIM ID	300100
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked recessive
Individuals reported having this disease	43
Phenotype entries for this disease	43
Associated with 1 gene	ABCD1
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

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

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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43 entries on 1 page. Showing entries 1 - 43.

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
00052135	-	PubMed: Matsumoto 2005, Journal: Matsumoto 2005	-	M	-	Japan	-	-	-	-	-	ALD	born 40w gestation, birth weight 3198g; 1y-normal developmental milestones; walk-12m; 3y-speak two-word sentences; developed convulsions several times since age 2y; 39m-admitted to hospital, normal height/weight/physical examinations, ECG spikes and spike-and-waves left occicipital region; MRI brain FLAIR-method high signal intensity areas both occicipital regions, small high-signal-intensity areas scattered in anterior/temporal parts cerebrum; motor and sensory nerve conduction velocity normal; ...	ABCD1, PLXNB3	ABCD1, PLXNB3	1	1	Johan den Dunnen
00052348	-	PubMed: Berger 1994, Journal: Berger 1994	2-generation family, son	M	no	Austria	-	>29y	-	-	-	ALD	adolescent adrenoleukodystrophy (AALD); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052349	-	PubMed: Berger 1994, Journal: Berger 1994	2-generation family, son	M	no	Austria	-	13y	-	-	-	ALD	childhood cerebral adrenoleukodystrophy (CALD), died after clinical course of 4y; increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052350	-	PubMed: Berger 1994, Journal: Berger 1994	2-generation family, son	M	no	Austria	-	09y	-	-	-	ALD	childhood cerebral adrenoleukodystrophy (CALD), died after clinical course of 1.5y; increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052352	-	PubMed: Kemp 1994, Journal: Kemp 1994	family, 1 affected boy	M	no	Viet Nam	-	-	-	-	-	ALD	boy died of childhood cerebral ALD (CCALD)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052353	-	PubMed: Kemp 1994, Journal: Kemp 1994	family, 1 affected boy, 2 unaffected heterozygous carriers	M	no	Netherlands	-	-	-	-	-	ALD	adrenomyeloneuropathy (AMN)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052354	-	PubMed: Kemp 1994, Journal: Kemp 1994	family, 2 affected boys, 1 unaffected heterozygous carrier	M	no	Netherlands	-	-	-	-	-	ALD	both patients have adrenomyeloneuropathy (AMN)	ABCD1	ABCD1	1	2	Johan den Dunnen
00052355	-	PubMed: Kemp 1994, Journal: Kemp 1994	family, 2 affected boys	M	no	Germany	-	-	-	-	-	ALD	childhood cerebral ALD (CCALD) and young symptomatic	ABCD1	ABCD1	1	2	Johan den Dunnen
00052356	-	PubMed: Kemp 1994, Journal: Kemp 1994	family, 2 affected boys	M	no	Netherlands	-	-	-	-	-	ALD	both patients have adrenomyeloneuropathy (AMN)	ABCD1	ABCD1	1	2	Johan den Dunnen
00052378	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052379	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052380	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052381	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052382	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052383	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052384	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052385	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052386	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052387	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052388	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052389	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052390	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052391	-	PubMed: Mosser 1994, Journal: Mosser 1994	heterozygous carrier mother, no patient material available	F	-	Netherlands	-	-	-	-	-	ALD	symptomatic carrier; increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052392	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052393	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052394	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052395	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052396	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052397	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052398	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052399	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052400	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052401	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052402	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052403	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052404	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052405	-	PubMed: Mosser 1994, Journal: Mosser 1994	-	M	-	Netherlands	-	-	-	-	-	ALD	childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)	ABCD1	ABCD1	1	1	Johan den Dunnen
00052408	-	PubMed: Jiang 2015, Journal: Jiang 2015	2-generation family, 2 male sibs (Pat18/19), unaffected heterozygous mother (VLCFA 0.89)	M	-	China	-	>04y06m	-	-	-	ALD	childhood cerebral adrenoleukodystrophy (CCALD), hyperpigmentation; VLCFA 5.6 (<0.89), ACTH 221 (1-10); MRI-dilation cerebral ventricles	ABCD1	ABCD1	1	2	Johan den Dunnen
00052409	-	PubMed: Jiang 2015, Journal: Jiang 2015	2-generation family, 2nd sib	M	-	China	-	>02y03m	-	-	-	ALD	Addison only (AO), hematopoietic stem cell transplantation, hyperpigmentation; VLCFA 5.84 (<0.89), ACTH 110 (1-10); MRI-no white matter lesions	ABCD1	ABCD1	1	1	Johan den Dunnen
00380766	?	PubMed: Nair 2018	-	?	-	Lebanon	-	-	-	-	-	ALD	Neuroregression; hearing problems; adrenal insufficiency (Neurology)	-	ABCD1	1	1	LOVD
00417427	-	-	-	-	-	-	-	-	-	-	-	ALD	-	ABCD1	ABCD1	1	1	Wenjuan Qiu
00419090	-	Feixia zheng 2022, submitted	-	M	no	China	-	-	-	-	HSCT	ALD	Increased circulating very long-chain fatty acid concentration （HP:0033643）; Demyelination in central white matter（HP:0007305）	ABCD1	ABCD1	1	1	Feixia Zheng
00459974	FamPat1/2	PubMed: Poll-The 1988, PubMed: Fournier 1994	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F;M	yes	France	-	-	-	-	-	ALD	see paper; ..., severe hypotonia, intellectual disability, seizures, no dysmorphic features; enlarged hepatic peroxisomes	ACOX1	ACOX1	1	1	Johan den Dunnen

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Global Variome shared LOVD