Disease #02734 (LGMD-2D (dystrophy, muscular, limb-girdle, type 2D (LGMD-2D)), OMIM:608099)

Official abbreviation LGMD-2D
Name dystrophy, muscular, limb-girdle, type 2D (LGMD-2D)
OMIM ID 608099
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 13
Phenotype entries for this disease 13
Associated with 1 gene SGCA
Associated tissues -
Disease features -
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Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00072218 26944168-FamPatV2 PubMed: Liang 2016, Journal: Liang 2016 5-generation family, 5 affecteds (F, 4M), 13 unaffected heterozygous carriers M no Taiwan Taiwan >17y 0 - - LGMD-2D proximal muscle weakness (HP:0003701), calf hypertrophy (HP:0008981), loss of ambulation (HP:0002540), no cardiac involvement (-HP:0001627), no respiratory impairment (-HP:0002093) SGCA SGCA 1 5 Jamie Zeegers
00072219 26944168-FamPatV1 PubMed: Liang 2016, Journal: Liang 2016 - F no Taiwan Taiwan >19y 0 - - LGMD-2D proximal muscle weakness (HP:0003701), calf hypertrophy (HP:0008981), loss of ambulation (HP:0002540), palpitation (HP:0001962), mild respiratory impairment (HP:0002093) SGCA SGCA 1 1 Jamie Zeegers
00072220 26944168-FamPatIV2 PubMed: Liang 2016, Journal: Liang 2016 - M no Taiwan Taiwan >47y 0 - - LGMD-2D proximal muscle weakness (HP:0003701), loss of ambulation (HP:0002540), respiratory impairment (HP:0002093) SGCA SGCA 1 1 Jamie Zeegers
00072221 26944168-FamPatV3 PubMed: Liang 2016, Journal: Liang 2016 - M yes Taiwan Taiwan >08y 0 - - LGMD-2D proximal muscle weakness (HP:0003701), calf hypertrophy (HP:0008981), no loss of ambulation (-HP:0002540), no cardiac involvement (-HP:0001627), no respiratory impairment (-HP:0002093) SGCA SGCA 1 1 Jamie Zeegers
00072223 26944168-FamPatVI6 PubMed: Liang 2016, Journal: Liang 2016 - M yes - Taiwan >03y 0 - - LGMD-2D no proximal muscle weakness (-HP:0003701), calf hypertrophy (HP:0008981), no loss of ambulation (-HP:0002540), no cardiac involvement (-HP:0001627), no respiratory impairment (-HP:0002093) SGCA SGCA 1 1 Jamie Zeegers
00080961 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - LGMD-2D Muscular dystrophy, limb-girdle, type 2D (OMIM:608099) SGCA SGCA 1 1 Daniel Trujillano
00080964 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - LGMD-2D Muscular dystrophy, limb-girdle, type 2D (OMIM:608099) SGCA SGCA 1 1 Daniel Trujillano
00117365 - - - F yes Spain - - 0 - - LGMD-2D limb girdle muscle weakness (HP:0003325) SGCA SGCA 1 1 Aurelio Hernández-Laín
00117373 - - - M no Spain - - 0 - - LGMD-2D prominent scapular winging (HP:0003691), pelvic girdle muscle weakness (HP:0003749) SGCA SGCA 2 1 Aurelio Hernández-Laín
00117378 - - - M no Spain - - 0 - - LGMD-2D pelvic girdle muscle weakness (HP:0003749) SGCA SGCA 1 1 Aurelio Hernández-Laín
00132620 - - - F ? Spain Spaniard ? 0 Pedigree , MRI - LGMD-2D HP:0003327 HP:0003325 - SGCA 1 3 Lidia Gonzalez-Quereda
00207629 DMD-423 - - M ? Mexico Mexican - 0 - - LGMD-2D - SGCA SGCA 1 1 Miguel Angel Alcántara-Ortigoza
00301616 - - compound heterozygous patient M - Greece - 14y - - - LGMD-2D - SGCA SGCA 2 1 Helen Latsoudis
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