Disease #00611 (MC1DN (mitochondrial complex I deficiency, nuclear (MC1DN)), OMIM:252010)

Official abbreviation	MC1DN
Name	mitochondrial complex I deficiency, nuclear (MC1DN)
OMIM ID	252010
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	31
Phenotype entries for this disease	29
Associated with 19 genes	ACAD9, FOXRED1, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NUBPL
Associated tissues	-
Disease features	-
Remarks	-

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'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

31 entries on 1 page. Showing entries 1 - 31.

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
00063250	-	-	-	M	no	Spain	-	-	0	-	-	MC1DN	-	FOXRED1	FOXRED1	2	1	NeuroMeGen
00081067	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	0	-	-	MC1DN	m complex I deficiency (OMIM:252010)	NDUFV1	NDUFV1	1	1	Daniel Trujillano
00107834	18179882-Fam	PubMed: Saada 2008, Journal: Saada 2008	5-generation family, 9 affecteds (5F, 4M), unaffected heterozygous carrier parents/relatives	F;M	yes	Israel	Arab, muslim	-	0	-	-	MC1DN	see paper; ...	NDUFAF4	NDUFAF4	1	9	Johan den Dunnen
00180279	Patient 1	PubMed: Reinson 2018	-	M	-	Estonia	-	-	0	-	-	MC1DN	normal skeletal muscle; normal skin; MRI-brain normal; no epilepsy, EEG-mild background activity depression; no developmental delay/intellectual disability; no abnormalities eyes; normal growth; temporary normocytic anemia; lactic acidosis (serum lactate 2-20 mmol/l); hypertrophic cardiomyopathy	-	NDUFB11	1	1	Sander Pajusalu
00180280	Patient 2	PubMed: Reinson 2018	-	M	-	Estonia	-	-	0	-	-	MC1DN	normal skeletal muscle; normal skin; MRI-brain mild cerebral atrophy; no epilepsy; developmental delay/intellectual disability; optic atrophy; short stature; persistent leukopenia and microcytic anemia; lactic acidosis (CSF lactate 3.1 mmol/l (normal <2.1 mmol/l)); hypertrophic cardiomyopathy; joint contractures, non-progressive mild hearing impairment	-	NDUFB11	1	1	Sander Pajusalu
00229764	-	PubMed: Shehata 2015	-	F	-	-	-	6m	0	-	-	MC1DN	histiocytoid cardiomyopathy	NDUFB11	NDUFB11	1	1	Johan den Dunnen
00229765	-	PubMed: van Rahden 2015	-	F	-	-	-	-	0	-	-	MC1DN	axial hypotonia; linear skin defect; lacrimalduct atresia; failure to thrive; no anemia; no lactic acidosis; histiocytoid cardiomyopathy; died at age 6m, autopsy revealed thyroid abnormalities (large and multiple sites of oncocytic metaplasia)	NDUFB11	NDUFB11	1	1	Johan den Dunnen
00229766	-	PubMed: Rea 2017	-	F	-	United Kingdom (Great Britain)	-	-	0	-	-	MC1DN	mild to moderate bulbar palsy; normal skin; MRI-brain focal histiocytoid change in choroid plexus brain; no epilepsy; intermittent squint; no anemia; histiocytoid cardiomyopathy; focal histiocytoid change in the thyroid and lungs	NDUFB11	NDUFB11	1	1	Johan den Dunnen
00229767	-	PubMed: Torraco 2017	-	M	-	-	-	-	0	-	-	MC1DN	normal skeletal muscle; normal skin; MRI-brain normal; no epilepsy; no developmental delay/intellectual disability; normal growth; congenital sideroblastic anemia; lactic acidosis (4.2-8.2 mmol/l); fetal tachycardia and hypertrophy ventricular walls with moderate trabeculature right ventricle; dysmorphic features: hypertelorism, saddle nose, low set ears; hepatosplenomegaly and hydrocele	NDUFB11	NDUFB11	1	1	Johan den Dunnen
00229768	-	PubMed: Lichtenstein 2016	-	M	-	-	-	-	0	-	-	MC1DN	normal skin; no epilepsy; no developmental delay/intellectual disability; no abnormalities eyes; short stature; congenital sideroblastic anemia; no; no cardiac abnormality	NDUFB11	NDUFB11	1	1	Johan den Dunnen
00229769	-	PubMed: Lichtenstein 2016	healthy carrier mother	M	-	-	-	-	0	-	-	MC1DN	myopathy; normal skin; no epilepsy; no developmental delay/intellectual disability; no abnormalities eyes; normal growth; congenital sideroblastic anemia; lactic acidosis; no cardiac abnormality	NDUFB11	NDUFB11	1	1	Johan den Dunnen
00229770	FamPat1	PubMed: Lichtenstein 2016	2-generation family, 2 affected sibs (2M), healthy carrier mother	M	-	-	-	-	0	-	-	MC1DN	normal skin; no epilepsy; developmental delay/intellectual disability; congenital optic atrophy; short stature; congenital sideroblastic anemia; no lactic acidosis; no cardiac abnormality	NDUFB11	NDUFB11	1	2	Johan den Dunnen
00229771	FamPat2	PubMed: Lichtenstein 2016	sib2	M	-	-	-	-	0	-	-	MC1DN	normal skin; no epilepsy; developmental delay/intellectual disability; congenital optic atrophy; short stature; congenital sideroblastic anemia; no lactic acidosis; no cardiac abnormality	NDUFB11	NDUFB11	1	1	Johan den Dunnen
00229772	-	PubMed: Lichtenstein 2016	un-known	M	-	-	-	-	0	-	-	MC1DN	myopathy; normal skin; epilepsy; no developmental delay/intellectual disability; no abnormalities eyes; normal growth; congenital sideroblastic anemia; no lactic acidosis; no cardiac abnormality; single kidney, pulmonary stenosis, congenial inguinal hernia	NDUFB11	NDUFB11	1	1	Johan den Dunnen
00229773	-	PubMed: Shehata 2015	de novo	F	-	-	-	-	0	-	-	MC1DN	histiocytoid cardiomyopathy	NDUFB11	NDUFB11	1	1	Johan den Dunnen
00229774	-	PubMed: Kohda 2016	de novo	M	-	Japan	-	3d	0	-	-	MC1DN	redundant skin; intrauterine growth restriction; heart failure; died at age 55h	NDUFB11	NDUFB11	1	1	Johan den Dunnen
00229775	FamPat1	PubMed: van Rahden 2015	2-generation family, 2 affected (2F), healthy carrier mother	F	-	-	-	-	0	-	-	MC1DN	linear skin defect; MRI-brain corpus callosum agenesis, dilated lateral ventricles; epilepsy; severe global developmental delay; myopia, nystagmus, strabismus; failure to thrive; no anemia; no lactic acidosis; dilated cardiomyopathy	NDUFB11	NDUFB11	1	2	Johan den Dunnen
00229776	FamPat2	PubMed: van Rahden 2015	fetus (pregnancy terminated 24w)	F	-	-	-	-	0	-	-	MC1DN	MRI-brain corpus callosum dysgenesis, connected lateral ventricles, small cerebellum and cavum septum pellucidum; intrauterine growth restriction; thickened myocardium and pericardial effusion	NDUFB11	NDUFB11	1	1	Johan den Dunnen
00361901	-	-	-	-	-	-	-	-	-	-	-	MC1DN, SPG-11	Neuroregression following viral illness, hypotonia, normal deep tendon reflexes	-	NDUFAF6, SPG11	3	1	Anju Shukla
00373724	DT35	PubMed: Calvo 2010, PubMed: Tucker 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Australia	-	-	0	-	-	MC1DN	see paper; ...	NUBPL	NDUFB9, NUBPL	4	1	Johan den Dunnen
00373726	DT22	PubMed: Calvo 2010	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Australia	-	-	0	-	-	MC1DN	see paper; ...	FOXRED1	FOXRED1	2	1	Johan den Dunnen
00373727	family	PubMed: Fassone 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	United Kingdom (Great Britain)	-	-	0	-	-	MC1DN	see paper; ...	FOXRED1	FOXRED1	1	1	Johan den Dunnen
00373730	Pat1	PubMed: Kevelam 2013	-	-	-	Argentina	-	-	0	-	-	MC1DN	see paper; ...	NUBPL	NUBPL	2	1	Johan den Dunnen
00373731	Pat2	PubMed: Kevelam 2013	-	-	-	Germany	-	-	0	-	-	MC1DN	see paper; ...	NUBPL	NUBPL	3	1	Johan den Dunnen
00373732	Pat3	PubMed: Kevelam 2013	family, 2 affected sibs	-	-	Canada	-	-	0	-	-	MC1DN	see paper; ...	NUBPL	NUBPL	3	2	Johan den Dunnen
00373733	Pat4	PubMed: Kevelam 2013	-	-	-	Canada	-	-	0	-	-	MC1DN	see paper; ...	NUBPL	NUBPL	3	1	Johan den Dunnen
00373734	Pat5	PubMed: Kevelam 2013	-	-	-	United States	-	-	0	-	-	MC1DN	see paper; ...	NUBPL	NUBPL	3	1	Johan den Dunnen
00373735	Pat6	PubMed: Kevelam 2013	-	-	-	Netherlands	-	-	0	-	-	MC1DN	see paper; ...	NUBPL	NUBPL	3	1	Johan den Dunnen
00373736	TwinA/B	PubMed: Friedrich 2020	2-generation family, 2 affected identical twin brothers, unaffected heterozygous carrier parents	M	-	United States	Europe-N	-	0	-	-	MC1DN	see paper; ...	NUBPL	NUBPL	2	2	Johan den Dunnen
00380220	-	-	-	M	-	-	-	-	-	-	-	MC1DN	-	NDUFV2	NDUFV2	2	1	Yoshihito Kishita
00380222	-	-	-	F	-	-	-	-	-	-	-	MC1DN	-	NDUFV2	NDUFV2	2	1	Yoshihito Kishita

Legend

How to query

Global Variome shared LOVD