Disease #00190 (ARCI1 (ichthyosis, congenital, autosomal recessive, type 1 (ARCI-1)), OMIM:242300)

Official abbreviation	ARCI1
Name	ichthyosis, congenital, autosomal recessive, type 1 (ARCI-1)
OMIM ID	242300
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	155
Phenotype entries for this disease	140
Associated with 1 gene	TGM1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-09-06 15:11:38 +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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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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155 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

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
00002461	-	PubMed: Parmentier 1995	Family 3260, 2 affected	-	yes	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002462	-	PubMed: Russell 1995	Family I028	-	yes	United States	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002463	-	PubMed: Russell 1995	Family D455	-	yes	Egypt	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002464	-	PubMed: Huber 1995	Family LI-3, 2 affected	-	?	-	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002465	-	PubMed: Huber 1995	Family LI-1	-	?	-	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002466	-	PubMed: Huber 1995	Family LI-3, 2 affected	-	?	-	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002467	-	PubMed: Huber 1995	Family LI-3	-	?	-	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002469	-	PubMed: Huber 1997	Family LI-20	-	?	Sweden	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002470	-	PubMed: Huber 1997	-	M	?	Netherlands	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002471	-	PubMed: Huber 1997	Family LI-11	M	?	Netherlands	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002472	-	PubMed: Huber 1997	Family LI-8, Collodion baby	M	?	Switzerland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002473	-	PubMed: Huber 1997	Family LI-22, collodion baby	M	?	United States	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002475	-	PubMed: Laiho 1997	Family 3, 3 affected, collodion baby	-	?	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002476	-	PubMed: Laiho 1997	Family 11, collodion baby	M	?	Finland	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002477	-	PubMed: Laiho 1997	Family 8	F	?	Finland	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002478	-	PubMed: Laiho 1997	Family 12, collodion baby	F	?	Finland	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002479	-	PubMed: Petit 1997	Family B, 1 affected, collodion baby	F	yes	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002480	-	PubMed: Petit 1997	Patient 1, collodion baby	F	yes	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002482	-	PubMed: Bichakjian 1998	Family 2	-	no	-	white	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002483	-	PubMed: Bichakjian 1998	Family 2	-	no	-	white	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002484	-	PubMed: Hennies 1998	Patient JL	F	no	Germany	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002485	-	PubMed: Hennies 1998	Patient SH	M	yes	Tunisia	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002486	-	PubMed: Hennies 1998	Family KM	M	no	Germany	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002487	-	PubMed: Hennies 1998	Family JL	M	?	Germany	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002488	-	PubMed: Hennies 1998	Family AW, patients AW and PW, collodion babies	-	no	Germany	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002490	-	PubMed: Tok 1999	Family 2, collodion baby	M	?	Italy	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002491	-	PubMed: Tok 1999	Family 2, collodion baby	M	no	Italy	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002492	-	PubMed: Tok 1999	Family 1, monozygotic twins, collodion babies	F	?	-	African-American	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002493	-	PubMed: Pigg 2000	Family 1	F	?	Norway	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002495	-	PubMed: Shevchenko 2000	Family I025, 3 affected	-	?	United States	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002496	-	PubMed: Shevchenko 2000	Family I175	M	?	United States	African American	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002497	-	PubMed: Akiyama 2001	Collodion baby	M	no	Japan	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002498	-	PubMed: Akiyama 2001	Collodion baby	M	no	Japan	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002499	-	PubMed: Cserhalmi-Friedman 2001	Patient 2	F	?	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002500	-	PubMed: Cserhalmi-Friedman 2001	Patient 1	M	?	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002501	-	PubMed: Cserhalmi-Friedman 2001	Patient 3	F	?	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002502	-	PubMed: Cserhalmi-Friedman 2001	Patient 7	F	?	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002503	-	PubMed: Cserhalmi-Friedman 2001	Patient 3	F	?	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002504	-	PubMed: Cserhalmi-Friedman 2001	Patient 6	F	?	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002505	-	PubMed: Cserhalmi-Friedman 2001	Patient 5	M	?	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002506	-	PubMed: Cserhalmi-Friedman 2001	Patient 5	M	?	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002507	-	PubMed: Esposito 2001	Family LI I, 2 affected	M	yes	Italy	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002508	-	PubMed: Esposito 2001	Family LI II	F	no	Italy	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002509	-	PubMed: Akiyama 2001	-	F	no	Japan	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002510	-	PubMed: Akiyama 2001	-	F	no	Japan	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002511	-	PubMed: Yang 2001	Family LI-LK, collodion baby	M	no	Korea, South (Republic)	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002512	-	PubMed: Yang 2001	Family LI-KD, collodion baby	F	no	Japan	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002513	-	PubMed: Akiyama 2003	Family, 2 affected	F	yes	Japan	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002514	-	PubMed: Kon 2003	Collodion baby	M	no	Japan	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002515	-	PubMed: Kon 2003	Collodion baby	M	no	Japan	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002517	-	PubMed: Becker 2003	-	M	no	Hungary	-	-	-	-	-	ARCI1	ichthyosis, congenital, autosomal recessive	TGM1	TGM1	1	1	Michel van Geel
00002518	-	PubMed: Becker 2003	-	M	no	Hungary	-	-	-	-	-	ARCI1	ichthyosis, congenital, autosomal recessive	TGM1	TGM1	1	1	Michel van Geel
00002519	-	PubMed: Rice 2005	Collodion baby	-	?	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002520	-	PubMed: Mizrachi-Koren 2006	-	F	yes	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002521	-	PubMed: Mizrachi-Koren 2006	-	-	yes	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002524	-	PubMed: Oji 2006	Index patient 2	F	?	Netherlands	-	-	-	-	-	ARCI1	ichthyosis, bathing suit	TGM1	TGM1	1	1	Michel van Geel
00002525	-	PubMed: Oji 2006	Index patient 3	M	?	Germany	-	-	-	-	-	ARCI1	ichthyosis, bathing suit	TGM1	TGM1	1	1	Michel van Geel
00002527	-	PubMed: Oji 2006	Index patient 1	M	yes	Turkey	-	-	-	-	-	ARCI1	ichthyosis, bathing suit	TGM1	TGM1	1	1	Michel van Geel
00002583	-	PubMed: Cao 2009	2-generation family, unaffected carrier parents, has affected younger brother (deceased)	M	?	China	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002584	-	PubMed: Cao 2009	3-generation family, 2 affected brothers, unaffected carrier parents	M	yes	China	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	2	Michel van Geel
00002585	-	PubMed: Cao 2009	2-generation family, 1 affected, unaffected carrier parents	M	?	China	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00002605	-	-	Family LI-22, collodion baby	M	-	United States	-	-	1	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002608	-	-	Family LI-20	F	-	Sweden	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002620	-	-	Family LI-20	-	-	Sweden	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002623	-	-	Family 1, collodion baby	F	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002624	-	-	Family 2, Collodion baby	F	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002625	-	-	Family 3, 3 affected, collodion baby	-	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002626	-	-	Family 4, collodion baby	M	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002627	-	-	Family 5, collodion baby	M	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002628	-	-	Family 6, 2 affected, collodion baby	-	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002630	-	PubMed: Laiho 1997	-	M	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002631	-	PubMed: Laiho 1997	Family 5, collodion baby	M	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002632	-	PubMed: Laiho 1997	Family 6, 2 affected, collodion baby	-	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002633	-	PubMed: Laiho 1997	Family 7	M	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002634	-	PubMed: Laiho 1997	Family 7	M	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002635	-	PubMed: Laiho 1997	Family 9, collodion baby	M	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002636	-	PubMed: Laiho 1997	Family 9, collodion baby	M	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002637	-	PubMed: Laiho 1997	Family 10	F	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002638	-	PubMed: Laiho 1997	Family 11, collodion baby	M	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002639	-	PubMed: Laiho 1997	Family 12, collodion baby	F	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00002640	-	-	Family 13, 2 affected, collodion baby	-	-	Finland	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00003061	-	PubMed: Huber 1995	Family LI-2, 2 affected	-	-	-	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00003062	-	-	Family 3242	-	yes	-	-	-	-	-	-	ARCI1	-	TGM1	-	-	1	Michel van Geel
00003063	-	PubMed: Hennies 1998	Patient JL	F	no	Germany	-	-	-	-	-	ARCI1	-	TGM1	TGM1	1	1	Michel van Geel
00003064	-	PubMed: Hennies 1998	Family NE	F	no	Germany	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00003065	-	PubMed: Hennies 1998	Family SW	F	no	Germany	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00003066	-	PubMed: Hennies 1998	Family PB, patients PB and EB, collodion babies	M	no	Germany	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00003067	-	PubMed: Hennies 1998	Family PB, patients PB and EB, collodion babies	M	no	Germany	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00003068	-	PubMed: Hennies 1998	Family FS, patients FS and JS identical twins, collodion babies	F	-	Germany	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00003069	-	PubMed: Hennies 1998	Family JL	M	-	Germany	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00003070	-	PubMed: Hennies 1998	Family VB, collodion baby	F	-	Germany	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00003072	-	PubMed: Hennies 1998	Family AW, patients AW and PW, collodion babies	-	no	Germany	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00003077	-	PubMed: Hennies 1998	Family SU, 2 patients SU and JU	-	-	Germany	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00003078	-	PubMed: Hennies 1998	Family SU, patients SU and JU	-	-	Germany	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00003085	-	-	Patient 1	M	-	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00003086	-	PubMed: Cserhalmi-Friedman 2001	Patient 2	F	-	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00003087	-	PubMed: Cserhalmi-Friedman 2001	Patient 4	M	-	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00003088	-	PubMed: Cserhalmi-Friedman 2001	Patient 4	M	-	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00003089	-	PubMed: Cserhalmi-Friedman 2001	Patient 6	F	-	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel
00003090	-	PubMed: Cserhalmi-Friedman 2001	Patient 7	F	-	-	-	-	-	-	-	ARCI1	ichthyosis, lamellar	TGM1	TGM1	1	1	Michel van Geel

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Global Variome shared LOVD