Phenotypes for disease #04285 (LGMDR1;LGMD2A (dystrophy, muscular, limb-girdle, recessive, type 1), OMIM:253600)

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
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

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
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

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
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

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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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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18 entries on 1 page. Showing entries 1 - 18.

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How to query

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000060492	Muscular dystrophy, limb-girdle, type 2A (OMIM:253600)	-	-	Familial, autosomal recessive	-	-	-	-	-	Daniel Trujillano	00080923
0000128132	39y-shoulder pain, exercise intolerance; developed progressive weakness affecting proximal upper and lower limbs, scapular winging; 56y-wheelchair bound; elevated CK 4059 IU/L; EMG myopathic with fibrillation potentials; muscle biopsy dystrophic, large number lobulated fibres	LGMD	LGMD2A	Familial, autosomal recessive	68y	-	39y	-	-	Martine Tetreault	00155749
0000222945	-	-	LGMD2A	Unknown	-	-	-	-	WB CAPN3 reduced	Svetlana Gorokhova	00289314
0000222946	-	-	LGMD2A	Unknown	-	-	-	-	WB CAPN3 normal	Svetlana Gorokhova	00289315
0000222947	-	-	LGMD2A	Unknown	-	-	-	-	WB CAPN3 reduced	Svetlana Gorokhova	00289316
0000222949	-	-	LGMD2A	Unknown	-	-	-	-	WB CAPN3 absent	Svetlana Gorokhova	00289318
0000228653	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Helen Latsoudis	00301522
0000257316	Muscle weakness HP:0001324 Difficulty walking HP:0002355	-	-	Familial, autosomal recessive	-	-	-	-	-	Ibrahim Sahin	00361918
0000257376	Muscle weakness HP:0001324	-	-	Familial, autosomal recessive	-	-	-	-	-	Ibrahim Sahin	00361984
0000295317	LGMDR1-Calpain-3 related	limb girdle muscle dystrophy	LGMDR1-Calpain 3-Related	Familial, autosomal recessive	18y	26y	08y	lower limbs weakness	-	JA Bevilacqua	00402534
0000295320	LGMDR1-Calpain 3 Related	limb girdle muscle dystrophy	LGMDR1-calpain-3 related	Familial, autosomal recessive	25y	16y	10y	lower limb weakness	-	JA Bevilacqua	00402557
0000305279	Proximal muscle weakness in lower limbs HP:0008994 Proximal muscle weakness in upper limbs HP:0008997 Achilles tendon contracture HP:0001771	muscular dystrophy	LGMDR1	Familial, autosomal recessive	18y	18y	16y	-	-	Alberto Hidalgo-Bravo	00413298
0000351754	Pes cavus Muscle weakness	LGMD	LGMDR1	Familial, autosomal recessive	-	-	-	-	-	Camille Verebi	00466390
0000357017	Limb-girdle muscular dystrophy * Absent muscle fiber calpain-3 * Muscular dystrophy	LGMD	LGMDR1	Isolated (sporadic)	-	-	-	-	-	Camille Verebi	00472208
0000357022	Progressive proximal muscle weakness, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Abnormality of the mitochondrion, Elevated serum creatine kinase	LGMD	LGMDR1	Unknown	-	-	-	-	-	Camille Verebi	00472213
0000357050	0003198: Myopathy, 0006785: Limb-girdle muscular dystrophy, 0003547: Muscle weakness of the shoulder girdle, 0003749: Muscle weakness of the pelvic girdle	LGMD	LGMDR1	Unknown	-	-	-	-	-	Camille Verebi	00472241
0000357051	LGMD	LGMD	LGMDR1	Unknown	-	-	-	-	-	Camille Verebi	00472242
0000357052	Weakness of the pelvic girdle and atrophy	LGMD	LGMDR1	Unknown	-	-	-	-	-	Camille Verebi	00472243

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Global Variome shared LOVD