Disease #01816 (MADD (acyl-CoA dehydrogenation deficiency, multiple (MADD)), OMIM:231680)

Official abbreviation	MADD
Name	acyl-CoA dehydrogenation deficiency, multiple (MADD)
OMIM ID	231680
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	20
Phenotype entries for this disease	18
Associated with 3 genes	ETFA, ETFB, ETFDH
Associated tissues	-
Disease features	autosomal recessive
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
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(Antigua and Barbuda)
Argentina
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Armenia
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Aruba
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Australia
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Austria
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Bahrain
(Bahrain)
Bangladesh
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Barbados
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Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
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Bolivia
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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
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Dominica
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Dominican Republic
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East Timor
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Ecuador
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Egypt
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El Salvador
(El Salvador)
England
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Equatorial Guinea
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Eritrea
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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
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Greece
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Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
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Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
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Hong Kong
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Hungary
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Iceland
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India
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Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
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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
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Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
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Mali
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Mallorca
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Malta
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Marshall Islands
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Martinique
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Mauritania
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Mauritius
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Mayotte
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Mexico
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Micronesia
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Moldova
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Monaco
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Mongolia
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Montserrat
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Morocco
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Mozambique
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Myanmar
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Namibia
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Nauru
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Nepal
(Nepal)
Netherlands
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Netherlands Antilles
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Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
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New Zealand
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Nicaragua
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Niger
(Niger)
Nigeria
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Niue
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Norfolk Island
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Northern Ireland
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Northern Mariana Islands
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Norway
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Oman
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Pakistan
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Palau
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Palestine
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Panama
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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

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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	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
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\|	Numeric	23\|24	all entries exactly matching 23 or 24
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Example	Matches
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20 entries on 1 page. Showing entries 1 - 20.

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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
00180982	-	-	-	M	-	-	-	-	-	-	-	MADD	(HP:0045045) Elevated plasma acylcarnitine levels	ETFDH	ETFDH	2	1	Belen Perez
00181017	-	-	-	-	-	-	-	-	-	-	-	MADD	-	ETFB	ETFB	2	1	Belen Perez
00181065	-	-	-	-	-	-	-	-	-	-	-	MADD	-	ETFDH	ETFDH	1	1	Belen Perez
00230646	Fam1	PubMed: Olsen 2016	2-generation family, affectedsister/brother, unaffected heterozygous carrier parents	F;M	yes	-	-	-	-	-	-	MADD	see paper; …	FLAD1	FLAD1	1	2	Johan den Dunnen
00230647	Fam2	PubMed: Olsen 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	-	-	-	-	-	-	MADD	see paper; …	FLAD1	FLAD1	2	1	Johan den Dunnen
00230648	Fam3	PubMed: Olsen 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	-	-	-	-	-	-	MADD	see paper; …	FLAD1	FLAD1	2	1	Johan den Dunnen
00230649	Fam4	PubMed: Olsen 2016	2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents	F;M	yes	-	-	-	-	-	-	MADD	see paper; …	FLAD1	FLAD1	1	3	Johan den Dunnen
00230650	Fam5	PubMed: Olsen 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	-	-	-	-	-	-	MADD	see paper; …	FLAD1	FLAD1	1	1	Johan den Dunnen
00230651	Fam6	PubMed: Olsen 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	-	-	-	-	-	-	MADD	see paper; …	FLAD1	FLAD1	3	1	Johan den Dunnen
00230652	Fam7	PubMed: Olsen 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	-	-	-	-	-	-	MADD	see paper; …	FLAD1	FLAD1	1	1	Johan den Dunnen
00230984	-	-	-	-	yes	-	-	2d	-	-	-	MADD	severe form	ETFDH	ETFDH	1	1	Rikke Katrine Jentoft Olsen
00263297	-	-	-	F	no	China	Han Chinese	-	-	-	-	MADD	muscle weakness, muscular hypotonia, mild myogenic damage，myocardial damage，fatty liver	ETFDH	ETFDH	2	1	Guorui Hu
00265258	-	-	-	F	-	Spain	-	-	-	-	-	MADD	-	ETFDH	ETFDH	2	1	Jorge Docampo Cordeiro
00301529	-	-	compound heterozygous patient, unaffected heterozygous parents	F	no	Greece	-	07y	-	-	-	MADD	-	ETFDH	ETFDH	2	1	Helen Latsoudis
00311076	-	-	-	F	no	Korea, South (Republic)	-	-	-	-	riboflavin	MADD	-	FLAD1	FLAD1	1	1	Yun Jeong
00453493	patient	Journal: Martino 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Italy	-	-	-	-	-	MADD	see paper; ..., birth 32w-urgent caesarean section due to cardiotocographic alterations in primigravida, 31w-pregnancy complicated by oligo-hydramnios, intrauterine fetal growth retardation, significantly hypotonic, weight 1470g (24th centile), length 40cm (21st centile), OFC 31cm (84th centile)	-	ETFDH	2	1	Johan den Dunnen
00453494	FamPat1	Journal: Nogueira 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	-	Portugal	-	-	-	-	-	MADD	see paper; ..., newborn screening	-	ETFDH	2	1	Johan den Dunnen
00453495	FamPat2	Journal: Nogueira 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Portugal	-	-	-	-	-	MADD	see paper; ..., newborn screening	-	ETFDH	2	1	Johan den Dunnen
00453496	FamPat3	Journal: Nogueira 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Portugal	-	-	-	-	-	MADD	see paper; ..., newborn screening	-	ETFDH	2	1	Johan den Dunnen
00453497	FamPat4	Journal: Nogueira 2021	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	Portugal	-	-	-	-	-	MADD	see paper; ..., newborn screening	-	ETFDH	2	2	Johan den Dunnen

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Global Variome shared LOVD

ZC3H12A (zinc finger CCCH-type containing 12A)