Disease #00115 (CRMCC (microangiopathy, cerebroretinal, with calcifications and cysts (CRMCC, Coats plus syndrome)), OMIM:612199)

Official abbreviation	CRMCC
Name	microangiopathy, cerebroretinal, with calcifications and cysts (CRMCC, Coats plus syndrome)
OMIM ID	612199
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	33
Phenotype entries for this disease	32
Associated with 3 genes	CTC1, OBFC1, TEN1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-03-08 10:55:44 +01:00 (CET)
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
(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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33 entries on 1 page. Showing entries 1 - 33.

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
00000371	-	PubMed: Anderson 2012	F273	M	no	-	Egyptian	>15y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	LOVD
00000372	-	PubMed: Anderson 2012	F319	M	no	-	Norwegian	>24y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	LOVD
00000373	-	PubMed: Anderson 2012	F332	M	no	-	English	>20y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	LOVD
00000374	-	PubMed: Anderson 2012	F335_P1, sibling of F335_P2	F	no	-	Scottish	25y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	LOVD
00000375	-	PubMed: Anderson 2012	F335_P2, sibling of F335_P1	F	no	-	Scottish	22y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	LOVD
00000376	-	PubMed: Anderson 2012	F336	F	no	-	English	28y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	LOVD
00000377	-	PubMed: Anderson 2012	F340	M	no	-	European-American	>22y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	LOVD
00000378	-	PubMed: Anderson 2012	F342_P1, sibling of F342_P2	F	no	-	English and Italian	13y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	LOVD
00000379	-	PubMed: Anderson 2012	F342_P2, sibling of F342_P1	M	no	-	English and Italian	>18y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	LOVD
00000380	-	PubMed: Anderson 2012	F345	M	no	-	Swiss and French	02y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	LOVD
00000382	-	PubMed: Anderson 2012, PubMed: Polvi 2012	This individual is reported twise, once in Anderson et al 2012 (F382) and once in Polvi et al. 2012 (F12:II-1)	M	no	Portugal	Portuguese	>03y08m	-	-	-	CRMCC	-	CTC1	CTC1, MLC1	3	1	Anne Polvi
00000383	-	PubMed: Linnankivi 2006, PubMed: Polvi 2012	F1:II-1, patient 2 in Linnakivi et al. 2006	F	no	Finland	Finnish	06y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	Anne Polvi
00000384	-	PubMed: Linnankivi 2006, PubMed: Polvi 2012	F2:II-1	F	no	Finland	Finnish	>11y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	Anne Polvi
00000385	-	PubMed: Toiviainen-Salo 2011, PubMed: Polvi 2012	F3:II-1, patient 1 in Toiviainen-Salo et al. 2011	F	no	Finland	Finnish	18y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	Anne Polvi
00000386	-	PubMed: Linnankivi 2006, PubMed: Polvi 2012	F4:II-2, patient 5 in Linnankivi et al. 2006	F	no	Finland	Finnish	13y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	Anne Polvi
00000387	-	PubMed: Polvi 2012	F5:II-1	F	no	Finland	Finland	>04y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	Anne Polvi
00000388	-	PubMed: Linnankivi 2006, PubMed: Polvi 2012	F6:II-3, patient 4 in Linnankivi et al. 2006	F	no	Finland	Finnish	>15y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	Anne Polvi
00000389	-	PubMed: Polvi 2012	F7:II-3	M	no	Finland	Finnish	01y09m	-	-	-	CRMCC	-	CTC1	CTC1	2	1	Anne Polvi
00000390	-	PubMed: Linnankivi 2006, PubMed: Polvi 2012	F8:II-1, patient 12 in Linnankivi et al. 2006	M	no	Finland	Finnish	>22y	-	-	-	CRMCC	-	CTC1	CNGA3, CNNM4, CTC1	4	1	Anne Polvi
00000391	-	PubMed: Polvi 2012	F9:II-2	M	no	Finland	Finnish	01y05m	-	-	-	CRMCC	-	CTC1	CTC1	2	1	Anne Polvi
00000392	-	PubMed: Linnankivi 2006, PubMed: Polvi 2012	F10:II-1, patient 8 in Linnankivi et al. 2006, sister of F10:II-2	F	no	Finland	Finnish	22y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	Anne Polvi
00000393	-	PubMed: Linnankivi 2006, PubMed: Polvi 2012	F10:II-2, patient 6 in Linnankivi et al. 2006, brother of patient F10:II-1	M	no	Finland	Finnish	16y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	Anne Polvi
00000394	-	PubMed: Polvi 2012	F11:II-1	M	no	United States	-	17y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	Anne Polvi
00000396	-	PubMed: Romaniello 2013	-	M	-	(Italy)	-	>08y	-	-	-	CRMCC, ND	-	CTC1, NDP	CTC1, NDP	3	1	Anne Polvi
00000404	-	PubMed: Anderson 2012	F367	M	no	-	African and European	>20y	-	-	-	CRMCC	-	CTC1	CTC1	2	1	Anne Polvi
00034569	-	PubMed: Yannuzzi 2014	-	M	no	(United States)	African American Colombian	-	-	-	-	CRMCC	-	CTC1	CTC1	2	1	Anne Polvi
00037569	-	PubMed: Bisserbe 2015	-	M	no	-	-	-	-	-	-	CRMCC	-	CTC1	CTC1	2	1	Anne Polvi
00037771	-	PubMed: Netravahti 2015, Journal: Netravahti 2015	2-generation family, unaffected heterozygous carrier parents	M	no	India	Indian	>08y	-	-	-	CRMCC	Coats plus syndrome; dextrocardia, situs inversus; see paper ...	CTC1, HES7	CTC1, HES7	2	1	Anne Polvi
00081459	-	PubMed: Takai 2016	2-geenration family, 2 affected sisters, unaffected heterozygous carrier parents	F	yes	-	-	-	-	-	-	CRMCC	intrauterine growth retardation, intracranial calcification in a distribution typical of CP, leukoencephalopathy, retinal exudates typical of CP; sparse hair (1), 3y-fractures (1), 3y-GI ectasias (1)	POT1	POT1	1	2	Anne Polvi
00081744	-	PubMed: Simon 2016	-	F	yes	-	Palestinian	-	-	-	-	CRMCC	-	OBFC1	OBFC1	1	1	Anne Polvi
00081745	-	PubMed: Simon 2016	-	M	yes	-	Palestinian	-	-	-	-	CRMCC	-	OBFC1	OBFC1	1	1	Anne Polvi
00154407	1	PubMed: Mansukhani 2017	-	F	-	-	-	>02y	-	-	-	CRMCC	-	CTC1	CTC1	1	1	Anne Polvi
00154408	-	PubMed: Xu 2017	-	F	-	China	-	-	-	-	-	CRMCC	-	CTC1	CTC1	1	1	Anne Polvi

Legend

How to query

Global Variome shared LOVD

HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1)