Disease #05265 (MRRSDC;LGMD2Y (dystrophy, dystrophy, autosomal recessive, with rigid spine and distal joint contractures (LGMD2Y)), OMIM:617072)

Official abbreviation	MRRSDC;LGMD2Y
Name	dystrophy, dystrophy, autosomal recessive, with rigid spine and distal joint contractures (LGMD2Y)
OMIM ID	617072
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	1
Phenotype entries for this disease	1
Associated with 1 gene	TOR1AIP1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2017-05-05 14:22:21 +02:00 (CEST)
Date last edited	2024-01-12 21:10:52 +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
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Albania
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Algeria
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Angola
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Brazil
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Brunei Darussalam
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Bulgaria
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Burkina Faso
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Cambodia
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Cameroon
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Canada
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Cape Verde
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Central Europe
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Chile
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China
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Christmas Island
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Colombia
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Comoros
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Congo
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Croatia (Hrvatska)
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Georgia
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Germany
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Italy
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Jordan
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Kenya
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Korea
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Korea, North (People's Republic)
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Korea, South (Republic)
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Laos
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Latvia
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Malawi
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San Marino
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Scotland
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Serbia
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Singapore
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Cunha
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Sudan
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Sweden
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Switzerland
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Syria
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Trinidad and Tobago
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Tunisia
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Turkey
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Turkmenistan
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Turks and Caicos Islands
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Tuvalu
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Uganda
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Ukraine
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United Arab Emirates
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Uruguay
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Virgin Islands (British)
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Virgin Islands (US)
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Wales
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Wallis and Futuna Islands
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Western Sahara
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Yemen
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Yugoslavia
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Zaire
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Zambia
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Zimbabwe
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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

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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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Example	Matches
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1 entry on 1 page. Showing entry 1.

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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
00103987	24856141-Fam	PubMed: Kayman-Kurekci 2014, Journal: Kayman-Kurekci 2014	4-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents/sibs	F;M	yes	Turkey	-	-	-	-	-	MRRSDC;LGMD2Y	see paper; ..., proximal/distal weakness/atrophy, rigid spine, contractures proximal/distal interphalangeal hand joints, cardiomyopathy, respiratory involvement	TOR1AIP1	TOR1AIP1	1	3	Johan den Dunnen

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Global Variome shared LOVD

SPINK5 (serine peptidase inhibitor, Kazal type 5)