All individuals with variants in gene SOD1

31 entries on 1 page. Showing entries 1 - 31.
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     
00037159 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037160 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00074617 27297615-FamPatIII3 PubMed: Chen 2016, Journal: Chen 2016 4-generation family, 4-affecteds (3 deceased F) F - China Chinese 37y - - - ALS Progressive proximal muscle weakness in upper extremities (HP:0009073), atrophy (HP:?), fasciculation in the left proximal upper arm and hand (HP:0007289), reduced Tendon reflexes (HP:0001315), no Hoffmann sign (-HP:?), no Babinski signs (-HP:0003487), no paraspinal muscle reflex (-HP:?), fasciculations (HP:0002380), serious respiratory disability (HP:0002880) 1 4 Jamie Zeegers
00074619 27297615-FamPatIII5 PubMed: Chen 2016, Journal: Chen 2016 PatIII5 M - China Chinese >33y - - - ALS weakness in the right lower extremity (HP:?), atrophy in the right lower limb (HP:?), fasciculation in all 4 extremities (HP:0002380), Hoffmann sign (HP:?), Babinski signs (HP:0003487), paraspinal muscle reflex (HP:?), neurogenic damage of the cervical, thoracic, and lumbar segments (HP:?), 1 1 Jamie Zeegers
00074620 26630559-FamPatII1 PubMed: Vats 2016, Journal: Vats 2016 3-generation family, 4 affecteds (2F, 2M, 3deceased), 2 asymptomatic carrier family members M - India India, north >58y - - - ALS difficulty in walking (HP:0002355), weakness of lower limbs (HP:0007340), fasciculations of lower limbs (HP:0007289), difficulty in rising from lying to sitting position (HP:?), slight slurring of speech (HP:0002465), breathlessness while speaking (HP:?), atrophy and weakness of distal muscles of lower limbs(HP:0002460), weakness of proximal muscles (HP:0003701), mild weakness of trunk muscles (HP:?), jaw jerk (HP:?), palmomental reflex (HP:0002476), exaggerated tendon reflexes (HP:0006801), standing with support (HP:0003698), active denervation in bulbar area and muscles of both lower limbs (HP:?), 1 4 Jamie Zeegers
00074622 26630559-FamPatII7 PubMed: Vats 2016, Journal: Vats 2016 PatII7 F - India India, north 44y - - - ALS weakness of the left hand (HP:?), widespread fasciculations (HP:0002380), slurring of speech (HP:0002465), no swallowing difficulties (-HP:0002015), no breathlessness (-HP:?), no impairment of memory (-HP:0002354), no emotional lability (-HP:0000712), no difficulty walking (-HP:0002355), no difficulty climbing stairs (-HP:0003551), atrophy (HP:?), weakness of interossei, thenar and hypothenar muscles of the left hand (HP:?), moderate weakness of trunk muscles (HP:?), power in the lower limbs was normal (HP:?), exaggerated deep tendon reflexes (HP:0006801), plantars were extensor (HP:?), acute and chronic denervation (HP:?), reinnervation (HP:?), 1 1 Jamie Zeegers
00074655 25336041-Pat PubMed: Dangoumau 2015, Journal: Dangoumau 2015 no familial history F - France - >74y - - - ALS difficulty walking (HP:0002355), lower motor neuron signs (HP:0002366), upper motor neuron signs (HP:?), no bulbar signs (-HP:0002483), active denervation (HP:?), dysarthria (HP:0001260), choking (HP:?), no denutrition (-HP:?), no respiratory insufficiency (-HP:0002093) 1 1 Jamie Zeegers
00074657 23889606-FamPatII6 PubMed: Cui 2013, Journal: Cui 2013 3-generation faily, 1 affected F - China Chinese >47y - - - ALS mild muscle weakness in both lower extremities (HP:0003484), muscle pain (HP:0003326), fasciculation (HP:0002380), weakness and wasting in the proximal muscles of both lower extremities (HP:0008994), difficulty walking (HP:0002355), no cognitive impairment (-HP:0100543), bulbar palsy (HP:0001283), Brisk tendon reflexes (HP:0006801), no Babinski signs (-HP:0003487) 1 1 Jamie Zeegers
00078527 24094577-FamPatII1 PubMed: Wang 2014, Journal: Wang 2014 4-generation family, 4 affecteds (3F, M), 5 asymptomatic carriers M - China Chinese >75y06m - - - ALS abnormal upper motor neuron involvement (HP:0002493), normal lower motor neuron involvement (-HP:0002366), bulbar palsy (HP:0001283), no respiratory failure (-HP:0002878) 1 4 Jamie Zeegers
00078528 24094577-FamPatI1 PubMed: Wang 2014, Journal: Wang 2014 PatI1 F - China Chinese 75y - - - ALS normal lower motor neuron involvement (-HP:0002366) 1 1 Jamie Zeegers
00078529 24094577-FamPatII3 PubMed: Wang 2014, Journal: Wang 2014 PatII3 F - China Chinese >71y06m - - - ALS no abnormal upper motor neuron involvement (-HP:0002493), normal lower motor neuron involvement (-HP:0002366), bulbar palsy (HP:0001283), no respiratory failure (-HP:0002878) 1 1 Jamie Zeegers
00078530 24094577-FamPatII5 PubMed: Wang 2014, Journal: Wang 2014 PatII5 F - China Chinese 55y - - - ALS normal lower motor neuron involvement (-HP:0002366), bulbar palsy (HP:0001283), respiratory failure (HP:0002878) 1 1 Jamie Zeegers
00078531 23853506-FamPatIV9 PubMed: Trosji 2013 5-generation family, 24 affecteds (15F, 10M), PatIV9 F - Italy Italian >49y - - - ALS progressive limbs weakness (HP:0002273), gait impairment (HP:0001288), proximal muscle weakness (HP:0003701), widespread fasciculations (HP:0002380), limb hypertonia (HP:0002509), bulbar signs (HP:0002483), no cognitive or behavioural disturbances (-HP:0100543), mild mood depression (HP:0000716) 1 24 Jamie Zeegers
00078543 23182243-Pat1 PubMed: Tortelli 2013, Journal: Tortelli 2013 - M - Italy Italian >74y - - - ALS atrophy of the tongue (HP:0012473), dysphagia (HP:0002015), dyspnea (HP:0002094), diffuse muscle atrophies (HP:0003700), fasciculations of the 4 arms/neck/dorsal muscles (HP:0002380), moderate weakness of all limb muscles (HP:0009028), moderate weakness of the flexor and extensor muscles of the neck (HP:?), brisk deep tendon reflexes (HP:0006801), bilaterally plantar response (HP:?) 1 1 Jamie Zeegers
00117410 ? - - - - Argentina Latin American - - - - ALS amyotrophic lateral sclerosis 1 1 Ariel I Suarez
00208551 - - - F - Germany - - - - - - HP:0010551 (Paraplegia/paraparesis); HP:0010549 (Weakness due to upper motor neuron dysfunction) 1 1 Andreas Laner
00208759 - - - M - Germany - - - - - - HP:0007354 (Amyotrophic lateral sclerosis) 1 1 Andreas Laner
00296677 - - - F - - - - - - - ? Abnormality of central motor function (HP:0011442); Abnormality of the nervous system (HP:0000707) 1 1 Andreas Laner
00300648 - - - F - Germany - - - - - ? Abnormality of the musculature (HP:0003011); Paraparesis (HP:0002385); Shoulder girdle muscle weakness (HP:0003547); Distal upper limb muscle weakness (HP:0008959) 1 1 Andreas Laner
00374633 S-5011 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00403830 - family, patient and maternal female cousin with similar condition - M yes Egypt - - - - - ALS 30y-progressive bulbar manifestations, followed by progressive upper and lower limb weakness and wasting within 6 years, hyperreflexia, intact abdominal reflex, Babinski sign and intact sensation; maternal female cousin with similar condition 1 2 Sherifa Ahmed Hamed
00407016 SOD1#1 PubMed: Ozoguz 2015 3-generation family, 3 affected (2F, M), 5 unaffected heterozygous carriers M - Turkey - - - - - ALS very fast progression, incomplete penetrance; site onset limb 1 3 Johan den Dunnen
00407017 SOD1#2 PubMed: Ozoguz 2015 - M - Turkey - - - - - ALS stereotyped Scandinavian phenotype; site onset limb 1 1 Johan den Dunnen
00407018 SOD1#3 PubMed: Jiang 2022 - M - China - - - - - ALS stereotyped Scandinavian phenotype; site onset limb 1 1 Johan den Dunnen
00407019 SOD1#4 PubMed: Jiang 2022 - F - China - - - - - ALS stereotyped Scandinavian phenotype; site onset limb 1 1 Johan den Dunnen
00407020 SOD1#5 PubMed: Jiang 2022 - M - China - - - - - ALS rapidly progressive atrophy; site onset limb 1 2 Johan den Dunnen
00407021 SOD1#6 PubMed: Jiang 2022 - M yes China - - - - - ALS very fast progression; site onset limb 1 1 Johan den Dunnen
00407022 SOD1#7 PubMed: Jiang 2022 - F - China - - - - - ALS classical ALS; site onset limb 1 1 Johan den Dunnen
00407023 SOD1#8 PubMed: Jiang 2022 - M - China - - - - - ALS classical ALS; site onset limb 1 1 Johan den Dunnen
00407024 SOD1#9 PubMed: Jiang 2022 - F - China - - - - - ALS classical ALS; site onset limb 1 1 Johan den Dunnen
00407025 SOD1#10 PubMed: Jiang 2022 - F - China - - - - - ALS classical ALS; site onset limb 1 1 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.