Disease #00007 (LCCS1 (contracture syndrome, lethal, congenital, type 1), OMIM:253310)

Official abbreviation	LCCS1
Name	contracture syndrome, lethal, congenital, type 1
OMIM ID	253310
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	32
Phenotype entries for this disease	33
Associated with 1 gene	GLE1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2012-06-29 14:23:06 +02:00 (CEST)
Date last edited	2023-08-06 22:40:03 +02:00 (CEST)

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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32 entries on 1 page. Showing entries 1 - 32.

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
00001503	Pat2	PubMed: Santen 2013	-	M	-	-	-	-	-	-	-	CAAHD, CSS, EPM1A, IVA, JBS, JBTS1, JBTS13, KTZS, LCCS1, MCLMR, MDDGC5;LGMDR9;LGMD2I, PSORS, USH3B	brith a term, weight SD 0.5; inguinal hernia bilateral, 3 hypomelanitic maculae.; no hypotonia; birth feeding problems; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); moderate speech delay (HP:0000750); moderate intellectual disability; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); normal eylashes (-HP:0000499); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); small nails 5th only;; ;; inguinal hernia; ventricular septal defect; no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); inguinal hernia (HP:0000023);	ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1	ARID1B, SMARCA2, SMARCA4, SMARCB1	15	1	Gijs Santen
00016592	Fam1	PubMed: Ellard 2015, Journal: Ellard 2015	couple, 2 affected fetuses, both terminated at 15-20 weeks gestation	-	no	United Kingdom (Great Britain)	white European	00y00m00d	-	-	-	LCCS1	fetal akinesia syndrome (pterygia and joint contractures)	-	GLE1	2	2	Hana Lango-Allen
00095112	-	-	-	-	?	-	-	-	-	Yes	-	LCCS1	-	-	GLE1	2	1	Karen Stals
00306855	Fam1	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306856	Fam2	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306857	Fam3	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306858	Fam4	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306859	Fam5	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306860	Fam6	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306861	Fam7	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306862	Fam8	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306863	Fam9	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306864	Fam10	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306865	Fam11	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306866	Fam12	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306867	Fam13	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306868	Fam14	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306869	Fam15	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306870	Fam16	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306871	Fam17	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306872	Fam18	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306873	Fam19	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306874	Fam20	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306875	Fam21	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306876	Fam22	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306877	Fam23	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306878	Fam24	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306879	Fam25	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306880	Fam26	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306881	Fam27	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306882	Fam28	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	1	1	Johan den Dunnen
00306883	Fam29	PubMed: Johannesen 2020	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	GLE1	GLE1	2	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD