All individuals with variants in gene HMGCR

11 entries on 1 page. Showing entries 1 - 11.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00293903 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 23 Mohammed Faruq
00315861 Fam5PatII1 Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 2-generation family, 1 affected, unaffected heterozygous carrier father F - United States - - - - - MD see paper; ..., 16y-first elevated CK (HP:0003236), 7,424; proximal weakness (HP:0003701); axial weakness (HP:0003327); muscle atrophy (HP:0003202), diffuse; no calf hypertrophy (-HP:0008981); myalgias (HP:0003326); reduced deep tendon reflexes (HP:0001315); loss of ambulation (HP:0002505), wheelchair; reduced respiratory function (HP:0002747), continuous non-invasive ventilation; no cardiac abnormalities (-HP:0001627); rapid disease progression (HP:0003678) 1 1 Johan den Dunnen
00315862 Fam3PatII1 Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - MD see paper; ..., 20m-first elevated CK (HP:0003236), 2,263-6,040; proximal weakness (HP:0003701); axial weakness (HP:0003327); no muscle atrophy (-HP:0003202); no calf hypertrophy (-HP:0008981); myalgias (HP:0003326); no reduced deep tendon reflexes (-HP:0001315); no gait disturbance (-HP:0001288); no loss of ambulation (-HP:0002505); reduced respiratory function (HP:0002747), non-invasive ventilation; no cardiac abnormalities (-HP:0001627); slow, stable isease progression (HP: 0003677) 2 1 Johan den Dunnen
00315863 Fam1PatII3 Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 brother M - United States - - - - - MD see paper; ..., 10y-first elevated CK (HP:0003236); proximal weakness (HP:0003701); no calf hypertrophy (-HP:0008981); no myalgias (-HP:0003326); no loss of ambulation (-HP:0002505); no cardiac abnormalities (-HP:0001627) 2 1 Johan den Dunnen
00315864 Fam1PatII2 Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 brother M - United States - - - - - MD see paper; ..., 8y-first elevated CK (HP:0003236); proximal weakness (HP:0003701); axial weakness (HP:0003327); no calf hypertrophy (-HP:0008981); no myalgias (-HP:0003326); no reduced deep tendon reflexes (-HP:0001315); gait disturbance (HP:0001288), waddling gait; no loss of ambulation (-HP:0002505); no cardiac abnormalities (-HP:0001627) 2 1 Johan den Dunnen
00315865 Fam2PatII2 Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 brother M - United States - - - - - MD see paper; ..., 13y-first elevated CK (HP:0003236), 2,000-3,000; proximal weakness (HP:0003701); axial weakness (HP:0003327); muscle atrophy (HP:0003202), diffuse; no calf hypertrophy (-HP:0008981); no myalgias (-HP:0003326); reduced deep tendon reflexes (HP:0001315); gait disturbance (HP:0001288), waddling gait; loss of ambulation (HP:0002505), wheelchair; reduced respiratory function (HP:0002747); no cardiac abnormalities (-HP:0001627); rapid disease progression (HP:0003678) 2 1 Johan den Dunnen
00315866 Fam4PatII2 Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 brother M yes United States - 08y - - - MD see paper; ..., 8y-deceased, 1y-first elevated CK (HP:0003236), 4,203; proximal weakness (HP:0003701); axial weakness (HP:0003327); calf hypertrophy (HP:0008981); no myalgias (-HP:0003326); reduced deep tendon reflexes (HP:0001315); gait disturbance (HP:0001288), poor heel strike; loss of ambulation (HP:0002505); reduced respiratory function (HP:0002747); no cardiac abnormalities (-HP:0001627); rapid disease progression (HP:0003678) 2 1 Johan den Dunnen
00315867 Fam2PatII1 Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F - United States - - - - - MD see paper; ..., 7y-first elevated CK (HP:0003236), 8,500-12,600; proximal weakness (HP:0003701); no axial weakness (-HP:0003327); no muscle atrophy (-HP:0003202); no calf hypertrophy (-HP:0008981); no myalgias (-HP:0003326); reduced deep tendon reflexes (HP:0001315); gait disturbance (HP:0001288), waddling gait; no loss of ambulation (-HP:0002505), limited, assisted ambulation; no cardiac abnormalities (-HP:0001627); rapid disease progression (HP:0003678) 2 2 Johan den Dunnen
00315868 Fam1PatII1 Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents M - United States - - - - - MD see paper; ..., 6y-first elevated CK (HP:0003236), 1,378-4,325; proximal weakness (HP:0003701); axial weakness (HP:0003327); muscle atrophy (HP:0003202), proximal; calf hypertrophy (HP:0008981); myalgias (HP:0003326); reduced deep tendon reflexes (HP:0001315); gait disturbance (HP:0001288), waddling gait; no loss of ambulation (-HP:0002505), limited, assisted ambulation; reduced respiratory function (HP:0002747), non-invasive ventilation; no cardiac abnormalities (-HP:0001627); slow, stable isease progression (HP: 0003677) 2 3 Johan den Dunnen
00315869 Fam4PatII1 Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes United States - 10y - - - MD see paper; ..., 10y-deceased, 2y-first elevated CK (HP:0003236),11,551-18,185; proximal weakness (HP:0003701); axial weakness (HP:0003327); muscle atrophy (HP:0003202), diffuse; calf hypertrophy (HP:0008981); no myalgias (-HP:0003326); reduced deep tendon reflexes (HP:0001315); gait disturbance (HP:0001288), Trendelenburg and stiff gait, poor heel strike; loss of ambulation (HP:0002505); reduced respiratory function (HP:0002747); no cardiac abnormalities (-HP:0001627); rapid disease progression (HP:0003678) 2 2 Johan den Dunnen
00435168 family PubMed: Yogev 2023 large family, 6 affected - yes Israel Bedouin - - - mevalonolactone LGMD2 adult-onset limb-girdle myopathy; 31y-40y-onset progressive proximal muscle weakness affects upper and lower limbs; older patients lost ambulation, developed respiratory insufficiency 1 6 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.