Disease #01925 (DIAR2;MVID (diarrhea, type 2, with microvillous atrophy (DIAR-2, microvillus inclusion disease (MVID))), OMIM:251850)

Official abbreviation	DIAR2;MVID
Name	diarrhea, type 2, with microvillous atrophy (DIAR-2, microvillus inclusion disease (MVID))
OMIM ID	251850
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	53
Phenotype entries for this disease	53
Associated with 1 gene	MYO5B
Associated tissues	-
Disease features	onset of intractable life-threatening watery diarrhea during infancy; two forms are recognized: early-onset with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life
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
(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.

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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
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=""	Text	="p.0"	all entries exactly matching 'p.0'
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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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<	Numeric	<23	all entries lower than 23
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Example	Matches
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53 entries on 1 page. Showing entries 1 - 53.

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
00148468	1	PubMed: Erickson 2008	-	-	-	-	Navajo	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148469	2	PubMed: Erickson 2008	-	-	-	-	Navajo	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148470	3	PubMed: Erickson 2008	-	-	-	-	Navajo	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148471	4	PubMed: Erickson 2008	-	-	-	-	Navajo	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148472	5	PubMed: Erickson 2008	-	-	-	-	Navajo	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148473	6	PubMed: Erickson 2008	-	-	-	-	Navajo	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148474	7	PubMed: Erickson 2008	-	-	-	-	Navajo	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148475	A6-P1	PubMed: Guzoglu 2017	-	F	yes	Turkey	Turkish	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148476	105	PubMed: Ruemmele 2010	-	F	no	Italy	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148477	106	PubMed: Ruemmele 2010	-	M	yes	Turkey	Turkish	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148478	115	PubMed: Ruemmele 2010	-	F	no	Italy	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148479	121	PubMed: Ruemmele 2010	-	M	yes	Turkey	Turkish	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148480	1	PubMed: Szperl 2011	-	M	-	-	hispanic	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148481	2.3	PubMed: Szperl 2011	-	F	yes	-	hispanic	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148482	4	PubMed: Szperl 2011	-	M	yes	-	Navajo	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148483	5	PubMed: Szperl 2011	-	F	yes	-	Navajo	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148484	8	PubMed: Szperl 2011	-	M	yes	Morocco	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148485	?	PubMed: Muller 2008	-	F	yes	Turkey	Turkish	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148486	?	PubMed: Muller 2008	-	M	yes	Turkey	Turkish	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148487	?	PubMed: Muller 2008	-	M	yes	Turkey	Turkish	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148488	?	PubMed: Muller 2008	-	M	yes	Turkey	Turkish	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148489	?	PubMed: Muller 2008	-	M	yes	Turkey	Turkish	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148490	?	PubMed: Muller 2008	-	M	yes	Turkey	Turkish	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148491	?	PubMed: Muller 2008	-	M	yes	Turkey	Turkish	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148492	?	PubMed: Ruemmele 2010	-	M	yes	Algeria	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148493	?	PubMed: Chen 2011, PubMed: Chiang 2013	-	M	no	Taiwan	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148494	A1-P5	PubMed: Fernandez Caamano 2015	-	F	no	-	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148495	A1-P6	PubMed: Fernandez Caamano 2015	-	M	no	-	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148496	A5-P1	PubMed: Mao 2016	-	F	-	-	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148497	A3-P1	PubMed: Perry 2014	-	F	no	Italy	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148498	A3-P2	PubMed: Perry 2014	-	M	no	Morocco	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148499	A3-P3	PubMed: Perry 2014	-	M	no	Morocco	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148500	A3-P6	PubMed: Perry 2014	-	M	no	Israel	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148501	A3-P7	PubMed: Perry 2014	-	M	no	France	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148502	A3-P8	PubMed: Perry 2014	-	F	no	France	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148503	107	PubMed: Ruemmele 2010	-	F	no	France	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148504	108	PubMed: Ruemmele 2010	-	M	no	France	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148505	109	PubMed: Ruemmele 2010	-	M	no	Yugoslavia	Kosovo	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148506	112	PubMed: Ruemmele 2010	-	F	no	Algeria	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148507	114	PubMed: Ruemmele 2010	-	F	no	Portugal	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148508	120	PubMed: Ruemmele 2010	-	M	no	France	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148509	1	PubMed: Shahid 2011	-	M	no	-	white	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148510	A2-P6	PubMed: Shillingford 2015	-	-	-	-	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148511	6	PubMed: Szperl 2011	-	F	no	-	white	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148512	7	PubMed: Szperl 2011	-	F	no	Poland	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148513	9	PubMed: Szperl 2011	-	M	no	Netherlands	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148514	?	PubMed: Muller 2008	-	F	no	France	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148515	?	PubMed: Muller 2008	-	M	no	Ireland	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148516	?	PubMed: Thoeni 2014	-	-	no	-	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Johan den Dunnen
00148517	?	unpublished	-	M	no	Turkey	Turkish	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	1	1	Johan den Dunnen
00148518	?	unpublished	-	F	no	Netherlands	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	3	1	Johan den Dunnen
00305937	35	-	-	M	-	China	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Sha Hong
00306218	120	-	-	M	-	China	-	-	-	-	-	DIAR2;MVID	-	MYO5B	MYO5B	2	1	Sha Hong

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How to query

Global Variome shared LOVD

SRBD1 (S1 RNA binding domain 1)