Disease #01694 (CDSP (carnitine deficiency, systemic primary (CDSP)), OMIM:212140)

Official abbreviation	CDSP
Name	carnitine deficiency, systemic primary (CDSP)
OMIM ID	212140
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	58
Phenotype entries for this disease	10
Associated with 1 gene	SLC22A5
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2020-05-03 14:59:18 +02:00 (CEST)

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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58 entries on 1 page. Showing entries 1 - 58.

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
00181073	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	Belen Perez
00206505	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206507	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206513	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206515	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206516	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206517	-	-	-	F	-	United States	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	2	1	LOVD
00206518	-	-	-	F	-	United States	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	2	1	LOVD
00206519	-	-	-	F	-	United States	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	2	1	LOVD
00206522	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206528	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206530	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206533	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206534	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206535	Pat	PubMed: Koizumi 1999	-	-	-	Japan	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206537	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206540	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206544	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206548	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206549	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206550	-	-	-	F	-	United States	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	2	1	LOVD
00206552	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206553	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206559	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206560	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206563	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206564	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206565	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206566	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206567	Pat	PubMed: Koizumi 1999	-	-	-	Japan	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206568	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206569	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206572	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206576	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206579	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206581	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206585	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206587	-	-	-	-	-	(United States)	-	-	-	-	-	CDSP	No symptoms - Adult - Newborn screening	SLC22A5	SLC22A5	2	1	Nicola Longo
00206588	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206589	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206591	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206592	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206594	FamIW	PubMed: Koizumi 1999	-	M	-	Japan	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206595	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206596	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206598	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206599	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00206602	-	-	-	F	-	United States	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	2	1	LOVD
00206603	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	LOVD
00231293	-	-	-	-	-	-	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	Hans Waterham
00300286	NBS_84123	-	-	M	no	China	Chinese	-	-	-	-	CDSP	C0 (free carnitine) value tested by MS/MS: 11.6μmol/L at birth, 4.3μmol/L at 3 years old (reference for C0: 10-60μmol/L)	SLC22A5	SLC22A5	2	1	Wenjuan Qiu
00300593	FamKR	PubMed: Koizumi 1999	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	Japan	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	2	Johan den Dunnen
00300594	FamTH	PubMed: Koizumi 1999	4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	-	Japan	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	Johan den Dunnen
00300595	FamTM	PubMed: Koizumi 1999	2-generation family, 1 addected	F	-	Japan	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	Johan den Dunnen
00300596	FamHR	PubMed: Koizumi 1999	-	F	-	Japan	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	1	1	Johan den Dunnen
00300597	FamAK	PubMed: Koizumi 1999	4-generation family, affected, unaffected heterozygous carrier parents/relatives	F	-	Japan	-	-	-	-	-	CDSP	-	SLC22A5	SLC22A5	2	1	Johan den Dunnen
00309858	M014	PubMed: Roman 2020, Journal: Roman 2020	new-born screening	-	-	United States	-	-	-	-	-	CDSP	see paper; ...	SLC22A5	SLC22A5	1	1	Johan den Dunnen
00409551	K6284	PubMed: Oishi 2018	-	F	-	Japan	-	-	-	-	-	CDSP	best corrected visual acuity: 0.3; electroretinogram , rod: non- recordable, cone: non- recordable	CYP4V2	CYP4V2	1	1	LOVD

Legend

How to query

Global Variome shared LOVD

F11 (coagulation factor XI)