All individuals with variants in gene SOD1

52 entries on 1 page. Showing entries 1 - 52.
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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
00473060 Fam12686Pat174 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - ALS onset 41y with lower muscle weakness, lumbar pain & cramp due to neuropathy; Fasciculations; Hand tremor; Generalized muscle weakness, lower & upper limbs; Difficulty walking and rising from seated position; EDX: compatible with motor neuron disease. 1 1 Johan den Dunnen
00473139 Fam101707Pat276 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - motor neuron disease onset 58y with hand weakness; Hand & feet paresthesia, Lt. > Rt. hand; Twitching & fasciculations, hands; Fatigue; EMG-NCV: chronic focal motor neuron disease. 1 1 Johan den Dunnen
00473276 Fam201194Pat502 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M no Iran - - - - - ALS multiple patients, lower muscle weakness statrted threey earlier, muscle cramps and atrophy, fasciculation, spastic gait , motor neuron disease reported in EMG/NCV. 1 1 Johan den Dunnen
00473328 Fam204164Pat574 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - ALS Sporadic case, lower muscle weakness and cramps started 18 months ago, gait abnormality, dysphasia,nasal speech, fasciculation, foot drop ,active denervation and early phase of motor neuron disease reported in EMG/NCV,normal brain MRI. 1 1 Johan den Dunnen
00473329 Fam204348Pat577 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - motor neuron disease started 8y, foot drop, neuropathy, lower muscle weakness and cramps, mild atrophy, bulbar dysfunction, dysphasia, dysarthria and gait abnormality 1 1 Johan den Dunnen
00473370 Fam207098Pat644 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - ALS age 31y , onset 16 months ago , lower muscle weakness, gait abnormality, pes cavus, mild bulbar dysfunction , impaired heel and toe walking ,normal brain MRI and motor neuron disease reported in EDX. 1 1 Johan den Dunnen
00473379 Fam207603Pat661 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F no Iran - - - - - ALS Dominant pattern, started one year ago with upper muscle weakness, dysarthria, mild bulbar dysfunction, motor neuron disease reported in EDX and slightly elevated CPK 1 1 Johan den Dunnen
00473381 Fam207678Pat663 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - ataxia onset threey with ataxia and frequent fallings, lower limb muscle cramps, normal brain MRI, normal report of EDX and affected sibling with clinical diagnosis of ALS 1 1 Johan den Dunnen
00473441 Fam211058Pat755 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M no Iran - - - - - motor neuron disease Started 6y, distal lower and upper muscle weakness (neuropathy), gait abnormality, toe-heel walking inability, fasciculation, muscle cramps and denervation renervation and active motor neuron disease reported in EDX, history of ALS in the brother and grandfather. 1 1 Johan den Dunnen
00473483 Fam301364Pat834 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - motor neuron disease onset since 7-8 months ago; Pain; Paresthesia; Slight dysphagia; Slight Lt. upper limb weakness; Inability heel walking, unilateral; EMG: anterior horn cell disease in left cervical and lumbosacral regions. 1 1 Johan den Dunnen
00473496 Fam302218Pat854 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - motor neuron disease sporadic case, age 45y old, started 40y with frequent falling and muscle cramps , gait abnormality , proximal upper and lower muscle weakness, positivie Gowers sign, dysphagia, dysarthria, motor neuron disease reported in EDX 1 1 Johan den Dunnen
00473502 Fam302916Pat866 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - ALS Age 62y , started one year ago with tremor, asymmetric proximal upper and lower muscle weakness, climbing difficulty and motor neuron disease reported in EDX. 1 1 Johan den Dunnen
00473899 Fam9810540Pat1412 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - motor neuron disease onset 38y with lower muscle weakness; Decreased muscle force in lower limbs; Muscle cramp; Gait abnormality; EMG-NCV: active denervation and chronic neurogenic changes in upper and extremity muscles. Fasciculation and fibrillation in tongue and neurogenic MUPs in abdominal muscles; probably due to motor neuron disease. 1 1 Johan den Dunnen
00473922 Fam9901313Pat1444 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - ALS Facial Paresis; Muscle weakness and numbness in right foot; Gait difficulty; Fatty liver; Proteinuria, renal disorder; Infertility; Anemia; Immunodeficiency, suspicious of; Rheumatoid arthritis; Hypothyroidism; Brain MRI: few tiny and non-specific white matter hyperintensity; EMG-NCV: motor neuron disorder. 1 1 Johan den Dunnen
00473939 Fam9905879Pat1467 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M no Iran - - - - - motor neuron disease onset since 7-mo ago with right lower muscle weakness extended to left side; Positive Gowers sign; Muscle atrophy; Abnormality of gait; EMG-NCV: early stage of anterior horn cell disease. 1 1 Johan den Dunnen
00473959 Fam9910245Pat1491 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - motor neuron disease onset 64y, Proximal muscle weakness, asymmetric, lower>upper, Rt>Lt leg; Difficulty rising from seated position & climbing steps; Ataxia; Numbness; Sweating; EMG-NCV suggestive of upper motor neuron disease. 1 1 Johan den Dunnen
00474794 - PubMed: Megarbane 2022 6 families, 8 affected - - Lebanon - - - - - NMD - 1 8 Johan den Dunnen
00475937 DK1324 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - ? details not specified; ncorrelation clinical diagnosis with genetic diagnosis 1 1 Johan den Dunnen
00476488 NJ277 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - MD details not specified; no correlation clinical diagnosis with genetic diagnosis 1 1 Johan den Dunnen
00476581 SP1325 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - ? details not specified; no correlation clinical diagnosis with genetic diagnosis 1 1 Johan den Dunnen
00476582 MN1326 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - ? details not specified; no correlation clinical diagnosis with genetic diagnosis 1 1 Johan den Dunnen
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