Disease #01737 (CTNS (Cystinosis, nephropathic), OMIM:219800)

Official abbreviation	CTNS
Name	Cystinosis, nephropathic
OMIM ID	219800
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	87
Phenotype entries for this disease	28
Associated with 1 gene	CTNS
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'

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.

87 entries on 1 page. Showing entries 1 - 87.

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
00247991	-	-	-	-	-	Mexico	-	-	-	-	-	CTNS	severity score 2.7	CTNS	CTNS	1	1	LOVD
00247992	-	-	-	-	-	-	(Germany;UK);UK	-	-	-	-	CTNS	severity score 2.0	CTNS	CTNS	1	1	LOVD
00247993	-	-	-	-	-	-	(Poland;Germany);UK	-	-	-	-	CTNS	severity score 1.3	CTNS	CTNS	1	1	LOVD
00247994	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00247995	-	-	-	-	-	-	(Ireland;Sweden);(Ireland;France)	-	-	-	-	CTNS	severity score 2.3	CTNS	CTNS	1	1	LOVD
00247996	-	-	-	-	-	Italy	-	-	-	-	-	CTNS	severity score 1.7	CTNS	CTNS	1	1	LOVD
00247997	-	-	-	-	-	Romania	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00247998	-	-	-	-	-	-	Scandinavia	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00247999	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248000	-	-	-	-	-	-	Europe	-	-	-	-	CTNS	-	CTNS	CTNS	1	14	LOVD
00248001	-	-	-	-	-	Mexico	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	Miguel Angel Alcántara-Ortigoza
00248002	-	-	-	-	-	-	Kurd; (Afghanistan;(UK;France))	-	-	-	-	CTNS	severity score 1.0	CTNS	CTNS	2	1	LOVD
00248003	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248004	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248005	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248006	-	-	-	-	-	Spain	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	2	LOVD
00248007	-	-	-	-	-	France	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248008	-	-	-	-	-	Switzerland	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	2	LOVD
00248009	-	-	-	-	-	Belgium	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248010	-	-	-	-	-	Netherlands	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	3	LOVD
00248011	-	-	-	-	-	Norway	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248012	-	-	-	-	-	United Kingdom (Great Britain)	Scotland	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248013	-	-	-	-	-	United Kingdom (Great Britain)	Wales	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248014	-	-	-	-	-	United Kingdom (Great Britain)	Ireland	-	-	-	-	CTNS	-	CTNS	CTNS	1	15	LOVD
00248015	-	-	-	-	-	United Kingdom (Great Britain)	England	-	-	-	-	CTNS	-	CTNS	CTNS	1	13	LOVD
00248016	-	-	-	-	-	Iceland	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	4	LOVD
00248017	-	-	-	-	-	Germany	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	38	LOVD
00248018	-	-	-	-	-	Italy	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	2	LOVD
00248019	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	12	LOVD
00248020	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	2	LOVD
00248021	-	-	-	-	-	France	-	-	-	-	-	CTNS	-	CTNS	CTNS	2	1	LOVD
00248022	-	-	-	-	-	France	-	-	-	-	-	CTNS	-	CTNS	CTNS	2	1	LOVD
00248023	-	-	-	-	-	-	Europe	-	-	-	-	CTNS	-	CTNS	CTNS	1	23	LOVD
00248024	-	-	-	-	-	Mexico	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	Miguel Angel Alcántara-Ortigoza
00248025	-	-	-	-	-	Mexico	-	-	-	-	-	CTNS	-	CTNS	CTNS	2	1	Miguel Angel Alcántara-Ortigoza
00248026	-	-	-	-	-	India	-	-	-	-	-	CTNS	severity score 1.3	CTNS	CTNS	1	1	LOVD
00248027	-	-	-	-	-	Germany	-	-	-	-	-	CTNS	severity score 2.3	CTNS	CTNS	1	1	LOVD
00248028	-	PubMed: Alcántara-Ortigoza 2008	-	M	-	Mexico	Mexican	-	-	-	-	CTNS	-	CTNS	CTNS	2	1	Miguel Angel Alcántara-Ortigoza
00248029	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CTNS	severity score 2.7	CTNS	CTNS	1	1	LOVD
00248030	-	-	-	-	-	-	(Netherlands;UK);Hungary	-	-	-	-	CTNS	severity score 2.5	CTNS	CTNS	2	1	LOVD
00248031	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248032	-	-	-	-	-	France	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248033	-	-	-	-	-	France	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248034	-	-	-	-	-	France	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248035	-	-	compound heterozygous CTNS genotype: c.[1029_1040del];[22_23del]	F	-	Mexico	Mexican	-	-	-	-	CTNS	classic nephropathic cystinosis	CTNS	CTNS	2	1	Miguel Angel Alcántara-Ortigoza
00248036	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248037	-	-	-	-	-	Mexico	-	-	-	-	-	CTNS	-	CTNS	CTNS	2	1	Miguel Angel Alcántara-Ortigoza
00248038	-	-	-	-	-	Morocco	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	2	LOVD
00248039	-	-	-	-	-	France	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248041	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248042	-	-	-	-	-	United Kingdom (Great Britain)	Wales (UK;Germany)	-	-	-	-	CTNS	severity score 2.0	CTNS	CTNS	1	1	LOVD
00248043	-	-	-	-	-	-	(Norway;UK);(Germany;UK)	-	-	-	-	CTNS	severity score 1.3	CTNS	CTNS	1	1	LOVD
00248045	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248046	-	-	-	-	-	-	(Germany;UK);Germany	-	-	-	-	CTNS	severity score 2.0	CTNS	CTNS	1	1	LOVD
00248047	-	-	-	-	-	-	France;UK	-	-	-	-	CTNS	severity score 1.7	CTNS	CTNS	1	1	LOVD
00248048	-	-	-	-	-	-	France;Sweden	-	-	-	-	CTNS	severity score 2.0	CTNS	CTNS	1	1	LOVD
00248049	-	-	-	-	yes	United Kingdom (Great Britain)	Pakistan	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248050	-	-	-	-	yes	United Kingdom (Great Britain)	Pakistan	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248052	-	-	-	-	-	France	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248053	-	-	-	-	-	Germany	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248054	-	-	-	-	-	France	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248055	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248056	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248057	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248058	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248059	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248060	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248061	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248062	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248063	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248064	-	-	-	-	-	-	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248065	-	-	-	-	-	United Kingdom (Great Britain)	Ireland	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248066	-	-	-	-	-	United Kingdom (Great Britain)	Eire	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248068	-	-	-	-	-	France	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248069	-	-	-	-	-	-	(Austria;Switzerland);(Denmark;Ireland)	-	-	-	-	CTNS	severity score 2.0	CTNS	CTNS	2	1	LOVD
00248070	-	-	-	-	-	-	Germany;UK	-	-	-	-	CTNS	severity score 2.5	CTNS	CTNS	1	1	LOVD
00248071	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248072	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248073	-	-	-	-	-	France	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	LOVD
00248074	-	-	-	-	-	Italy	-	-	-	-	-	CTNS	severity score 1.5	CTNS	CTNS	2	1	LOVD
00248075	-	-	-	-	-	Portugal	-	-	-	-	-	CTNS	severity score 1.7	CTNS	CTNS	1	1	LOVD
00248076	-	-	two siblings	-	yes	Mexico	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	2	Miguel Angel Alcántara-Ortigoza
00248077	-	-	-	-	-	Dominican Republic	-	-	-	-	-	CTNS	severity score 2.0	CTNS	CTNS	1	1	LOVD
00248079	-	-	-	-	-	-	(Germany;Ireland);?	-	-	-	-	CTNS	severity score 1.5	CTNS	CTNS	2	1	LOVD
00248080	-	-	-	-	-	United States	African-American	-	-	-	-	CTNS	severity score 1.3	CTNS	CTNS	1	1	LOVD
00265486	-	-	-	M	yes	Russian Federation	-	-	-	-	-	CTNS	-	CTNS	CTNS	1	1	Victoria Serzhanova
00451648	3bINP-082	Unpubllished	Familial case. Co-occurrence of two different monogenic diseases	F	no	Mexico	Mexican	-	-	-	-	CTNS	Mild intellectual disability, cerebral stroke, seizures, renal failure (Unilateral renal transplant). Co-occurrence with Alport syndrome 1	CTNS	COL4A5, CTNS	3	1	Miriam Erandi Reyna-Fabián

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Global Variome shared LOVD

CTNS (cystinosin, lysosomal cystine transporter)