Disease #01944 (LGMDR5;LGMD2C (dystrophy, muscular, limb-girdle, autosomal recessive, type 5 (LGMD2C)), OMIM:253700)

Official abbreviation LGMDR5;LGMD2C
Name dystrophy, muscular, limb-girdle, autosomal recessive, type 5 (LGMD2C)
OMIM ID 253700
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 20
Phenotype entries for this disease 20
Associated with 1 gene SGCG
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2024-01-12 20:49:29 +01:00 (CET)


Individuals

20 entries on 1 page. Showing entries 1 - 20.
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00072206 25802879-Fam1Pat1 PubMed: Al-Zaidy 2015, Journal: Al-Zaidy 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents/half-sisters F no Puerto Rico Hispanic >11y - - - LGMDR5;LGMD2C proximal muscle weakness (HP:0003701), no motor delay (-HP:0001270), no cognitive impairment (-HP:0100543), no ambulation (-HP:0002540), bilateral calf hypertrophy (HP:0008981), mild scapular winging (HP:0003691), no joint contractures (-HP:0001371) SGCG SGCG 1 1 Jamie Zeegers
00072208 25802879-Fam2Pat2 PubMed: Al-Zaidy 2015, Journal: Al-Zaidy 2015 2-generation family, 1 affected, unaffected heterozygous carrier mother M yes Puerto Rico Puerto Rican >18y - - - LGMDR5;LGMD2C proximal muscle weakness (HP:0003701), no ambulation (-HP:0002540), bilateral calf hypertrophy (HP:0008981), mild scapular winging (HP:0003691), no joint contractures (-HP:0001371), pelvic girdle muscles weakness (HP:0003749), lordosis (HP:0003307), waddling gait (HP:0002515), macroglossia (HP:0000158), no facial weakness (-HP:0010628) SGCG SGCG 1 1 Jamie Zeegers
00133283 - PubMed: Eymard 1997 - F no Italy Europe - - - - LGMDR5;LGMD2C clinical grade V; elevated CPK (HP:0003236); >17y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133298 - PubMed: Eymard 1997, PubMed: Crosbie 2000 - M no France Europe >24y - - - LGMDR5;LGMD2C clinical grade VI/VII; 21y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133299 - PubMed: Eymard 1997, PubMed: Crosbie 2000 - F no France Europe - - - - LGMDR5;LGMD2C clinical grade III; >26y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133301 - PubMed: Higuchi, PubMed: Higuchi - M - Japan - - - - - LGMDR5;LGMD2C 13y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133309 - PubMed: Eymard 1997 - M no France Europe - - - - LGMDR5;LGMD2C severe (clinical grade VII), walk tip-toe; 22y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133353 - PubMed: Eymard 1997 - M no France Europe - - - - LGMDR5;LGMD2C clinical grade IV, walk tip-toe; >36y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133366 - PubMed: Crosbie 2000 5 affecteds, 3 deceased - - Japan - - - - - LGMDR5;LGMD2C - SGCA SGCA 2 5 Johan den Dunnen
00133370 - PubMed: Piccolo, PubMed: Carrie - F;M - Morocco - - - - - LGMDR5;LGMD2C severe; 22y-inable to walk (HP:0002540)/10y-inable to walk (HP:0002540)- SGCA SGCA 2 1 Johan den Dunnen
00133373 - PubMed: Eymard 1997 - M no Italy Europe - - - - LGMDR5;LGMD2C clinical grade III; >25y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133386 - PubMed: Love - M - India - >25y - - - LGMDR5;LGMD2C 1108 elevated CPK (HP:0003236) SGCA SGCA 1 1 Johan den Dunnen
00133387 - PubMed: Eymard 1997, PubMed: Crosbie 2000 sister of 11-JO.1 F - France Europe - - - - LGMDR5;LGMD2C clinical grade III; >31y-inable to walk (HP:0002540) SGCA SGCA 1 1 Johan den Dunnen
00133388 - PubMed: Eymard 1997 sister of 11-JO.2 F - France Europe - - - - LGMDR5;LGMD2C clinical grade III; >33y-inable to walk (HP:0002540) SGCA SGCA 1 1 Johan den Dunnen
00133391 - PubMed: Eymard 1997 - F ? Algeria Africa N. >19y - - - LGMDR5;LGMD2C severe (clinical grade VII), walk tip-toe; 14y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133472 - PubMed: Eymard 1997, PubMed: Crosbie 2000 - M ? Algeria Africa N. >20y - - - LGMDR5;LGMD2C severe (clinical grade VII), walk tip-toe; 13y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133511 - - - F ? (Italy) white - - - - LGMDR5;LGMD2C - SGCA SGCA 1 1 Marina Fanin
00133513 - - - M ? - white - - - - LGMDR5;LGMD2C - SGCA SGCA 2 1 Marina Fanin
00213094 DMD-1762 PubMed: Alcantara-Ortigoza 2019 - M ? Mexico Mexican >08y - no - LGMDR5;LGMD2C Suspected Duchenne muscular dystrophy, but with normal results on multiplex PCR and MLPA for DMD gene - SGCG 1 1 Miguel Angel Alcántara-Ortigoza
00431575 214351 - - M likely Turkey - - - - - LGMDR5;LGMD2C Elevated circulating creatine kinase concentration, Muscle atrophy SGCG SGCG 1 1 Andreas Laner
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