Disease #04255

Official abbreviation ALS
Name sclerosis, lateral, amyotrophic (ALS)
OMIM ID -
Individuals reported having this disease 59
Phenotype entries for this disease 52
Associated with 1 gene GLE1
Associated tissues -
Disease features -
Remarks -


Individuals

59 entries on 1 page. Showing entries 1 - 59.
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00038399 - PubMed: Kaneb et al. 2015 - ? ? - - 63y 0 - - ALS Assumed dominant effect GLE1 GLE1 1 1 Anne Polvi
00038400 - PubMed: Kaneb et al. 2015 Family ALS-34 affected siblings 53 and 66 F no - - - 0 - - ALS - GLE1 GLE1 1 2 Anne Polvi
00038401 - PubMed: Kaneb et al. 2015 - - - (Canada) Caucasian - 0 - - ALS Assumed dominant effect GLE1 GLE1 1 1 Anne Polvi
00054804 - PubMed: Renton 2011, Journal: Renton 2011 4-generation family, 8 affecteds - no Italy - - 0 - - ALS 8 ALS cases C9orf72 C9orf72 1 8 Johan den Dunnen
00054805 - PubMed: Renton 2011, Journal: Renton 2011 3-generation family, 5 affecteds - no United States - - 0 - - ALS 5 ALS cases C9orf72 C9orf72 1 5 Johan den Dunnen
00054811 - PubMed: Chio 2012, Journal: Chio 2012 2-generation family, 1 affected (other family members not tested) M no Italy Sardinia >39y 0 - - ALS 35y proximal muscle weakness, wasting upper limbs; neurological examination diffuse hyperreflexia, neurophysiological testing chronic and active denervation, motor evoked potentials demonstrated increased central conduction time both corticospinal tracts, presentation consistent with flail arm ALS variant; no evidence of cognitive impairment; developed respiratory failure, electively tracheotomised 25m after onset ALS; alive 42m after onset ALS C9orf72, TARDBP C9orf72, TARDBP 2 1 Johan den Dunnen
00073258 - PubMed: Zhao 2009 - - - - - - 0 - - ALS - SETX SETX 1 1 Johan den Dunnen
00073264 - PubMed: Hirano 2011 - - - - - - 0 - - ALS - SETX SETX 1 1 Johan den Dunnen
00073272 - PubMed: Hirano 2011 - - - - - - 0 - - ALS - SETX SETX 1 1 Johan den Dunnen
00073294 - PubMed: Hirano 2011 - - - - - - 0 - - ALS - SETX SETX 1 1 Johan den Dunnen
00074532 - - - - - - - - 0 - - ALS - HSPB1 HSPB1 1 1 Simona Capponi
00074533 - - - - - - - - 0 - - ALS - HSPB1 HSPB1 1 1 Simona Capponi
00074617 27297615-FamPatIII3 PubMed: Chen 2016, Journal: Chen 2016 4-generation family, 4-affecteds (3 deceased F) F - China Chinese 37y 0 - - 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) SOD1 SOD1 1 4 Jamie Zeegers
00074619 27297615-FamPatIII5 PubMed: Chen 2016, Journal: Chen 2016 PatIII5 M - China Chinese >33y 0 - - 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:?), SOD1 SOD1 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 0 - - 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:?), SOD1 SOD1 1 4 Jamie Zeegers
00074622 26630559-FamPatII7 PubMed: Vats 2016, Journal: Vats 2016 PatII7 F - India India, north 44y 0 - - 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:?), SOD1 SOD1 1 1 Jamie Zeegers
00074626 - PubMed: Kim 2015, Journal: Kim 2015 - F - Korea Korean 31y 0 - - ALS dysarthria (HP:0001260), weakness in her left proximal arm (HP:0003701), respiratory difficulty with dysphagia (HP:0002015), no cognitive and/or behavioral impairments (-HP:0100543) FUS FUS 1 1 Jamie Zeegers
00074627 - PubMed: Kim 2015, Journal: Kim 2015 - F - Korea Korean 35y 0 - - ALS weakness in her right distal arm (HP:0002460), dysarthria (HP:0001260), respiratory difficulty (HP:?), no cognitive and/or behavioral impairments (-HP:0100543) FUS FUS 1 1 Jamie Zeegers
00074655 25336041-Pat PubMed: Dangoumau 2015, Journal: Dangoumau 2015 no familial history F - France - >74y 0 - - 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) SOD1 SOD1 1 1 Jamie Zeegers
00074657 23889606-FamPatII6 PubMed: Cui 2013, Journal: Cui 2013 3-generation faily, 1 affected F - China Chinese >47y 0 - - 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) SOD1 SOD1 1 1 Jamie Zeegers
00078526 25771394-Pat6793 PubMed: Lin 2015, Journal: Lin 2015 cohort of 207 unrelated ALS patients F - China Taiwanese 64y 0 - - ALS dysphagia (HP:0002015), progressive muscle weakness (HP:0003323), atrophy in upper and lower limbs (HP:?), feeding problems (HP:0011968), increased jaw jerk (HP:?), hyperactive gag reflexes (HP:?), generalized atrophy (HP:0003700), severe weakness of four limbs (HP:0002273), severe weakness neck muscles (HP:0000467) with fasciculations (HP:0002380), brisk deep tendon reflexes (HP:0006801), with extensor plantar responses (HP:0003487), aspiration pneumonia (HP:0011951), respiratory failure (HP:0002878) MATR3 MATR3 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 0 - - ALS abnormal upper motor neuron involvement (HP:0002493), normal lower motor neuron involvement (-HP:0002366), bulbar palsy (HP:0001283), no respiratory failure (-HP:0002878) SOD1 SOD1 1 4 Jamie Zeegers
00078528 24094577-FamPatI1 PubMed: Wang 2014, Journal: Wang 2014 PatI1 F - China Chinese 75y 0 - - ALS normal lower motor neuron involvement (-HP:0002366) SOD1 SOD1 1 1 Jamie Zeegers
00078529 24094577-FamPatII3 PubMed: Wang 2014, Journal: Wang 2014 PatII3 F - China Chinese >71y06m 0 - - 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) SOD1 SOD1 1 1 Jamie Zeegers
00078530 24094577-FamPatII5 PubMed: Wang 2014, Journal: Wang 2014 PatII5 F - China Chinese 55y 0 - - ALS normal lower motor neuron involvement (-HP:0002366), bulbar palsy (HP:0001283), respiratory failure (HP:0002878) SOD1 SOD1 1 1 Jamie Zeegers
00078531 23853506-FamPatIV9 PubMed: Trosji 2013 5-generation family, 24 affecteds (15F, 10M), PatIV9 F - Italy Italian >49y 0 - - 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) SOD1 SOD1 1 24 Jamie Zeegers
00078532 - PubMed: Kim 2014, Journal: Kim 2014 - F - Korea Korean >67y 0 - - ALS progressive limb weakness (HP:0003690) UBQLN2 UBQLN2 1 1 Jamie Zeegers
00078533 - PubMed: Kim 2014, Journal: Kim 2014 - M - Korea Korean >35y 0 - - ALS progressive lower leg weakness (HP:0007340), spasticity (HP:0001257) UBQLN2 UBQLN2 1 1 Jamie Zeegers
00078534 - PubMed: Kim 2014, Journal: Kim 2014 No family history F - - Korean >55y 0 - - ALS slowly progressive limb weakness (HP:0003690) SIGMAR1 SIGMAR1 1 1 Jamie Zeegers
00078535 24296365-Pat PubMed: Schreiner 2013, Journal: Schreiner 2013 family history short stature, delayed puberty, immunological disorders M yes Turkey Turkish >14y 0 - - ALS pancytopenia (HP:0001876), leg pain (HP:?), nonitching rash on the right lower leg (HP:?), mild respiratory symptoms including runny nose and sneezing(HP:?), red-colored urine (HP:?), splenomegaly (HP:0001744), petechiae (HP:0000967), pancytopenia (HP:0001876), scaling eczemas (HP:0000964), proteinuria (HP:0000093), IGFALS IGFALS 1 1 Jamie Zeegers
00078536 26740678-FamPatII1 PubMed: Goldstein 2016, Journal: Goldstein 2016 2-generation family, affected father, 4 sisters F - Morocco jewish 46y 0 - - ALS upper motor neuron involvement (HP:0002493), no cognitive involvement (-HP:0100543) OPTN OPTN 1 5 Jamie Zeegers
00078537 26740678-FamPatII2 PubMed: Goldstein 2016, Journal: Goldstein 2016 - F - Morocco jewish 43y 0 - - ALS upper motor neuron involvement (HP:0002493), no cognitive involvement (-HP:0100543) OPTN OPTN 1 1 Jamie Zeegers
00078538 26740678-FamPatII4 PubMed: Goldstein 2016, Journal: Goldstein 2016 PatII4 F - Morocco jewish 52y 0 - - ALS rapidly progressive presenile dementia (HP:0000726), motor neuron damage (HP:0002493) OPTN OPTN 1 1 Jamie Zeegers
00078543 23182243-Pat1 PubMed: Tortelli 2013, Journal: Tortelli 2013 - M - Italy Italian >74y 0 - - 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:?) SOD1 SOD1 1 1 Jamie Zeegers
00078544 25457024-FamPat1 PubMed: Hirano 2015, Journal: Hirano 2015 older brother with dementia M - Japan Japanese >72y 0 - - ALS muscle weakness extended to all 4 limbs (HP:0003690), bulbar signs (HP:0002483), severe amyotrophy of all 4 limbs (HP:0003202), diminished deep tendon reflexes (HP:0001265), extensor plantar reflexes (HP:0003487), tongue atrophic (HP:0012473), complete tetraparesis (HP:0002273), hearing difficulty (HP:?), mental impairment ( HP:0100543), complete limb palsy (HP:?), atrophy of the frontal and temporal lobes (HP:0006892), dementia (HP:0000726) VCP VCP 1 1 Jamie Zeegers
00117410 ? - - - - Argentina Latin American - 0 - - ALS amyotrophic lateral sclerosis SOD1 SOD1 1 1 Ariel I Suarez
00134037 21842496-FamALS002 PubMed: Al-Saif 2011 4-generation family, 6 affecteds (2F, 4M), unaffected heterozygous carrier relatives F;M yes Saudi Arabia - - 0 - - ALS see paper; ... SIGMAR1 SIGMAR1 1 6 Johan den Dunnen
00143683 ALS-518 - 6 generation family, 10 affected (DNA available from 1F, 3M), unaffected heterozygous carrier parents F yes Turkey white - 0 - - ALS increased deep tendon reflexes in the lower limbs (HP:0002395), hand interosseous muscle atrophy (HP:0007181), limb fasciculation (HP:0007289) and muscle fibrillation (HP:0010546)in right first interracial, biceps and both tibialis anterior muscles, tongue fasciculations (HP:0001308) ABCC2, C9orf72, ERLIN1, FUS, SOD1, TARDBP ABCC2, ERLIN1 2 4 Ceren Tunca
00143789 ALS-856 - - M yes Turkey - - 0 - - ALS - ABCC2, ERLIN1 ABCC2, ERLIN1 2 1 Ceren Tunca
00143791 ALS-869 - - M yes Turkey - - 0 - - ALS - ABCC2, ERLIN1 ABCC2, ERLIN1 2 1 Ceren Tunca
00143792 ALS-1077 - - M yes Turkey - - 0 - - ALS - ABCC2, ERLIN1 ABCC2, ERLIN1 2 1 Ceren Tunca
00147080 25708934-Pat1 PubMed: Yang 2015 - F - China - - 0 - - ALS no dementia, no Paget’s disease of bone SQSTM1 SQSTM1 1 1 Johan den Dunnen
00147081 25708934-Pat2 PubMed: Yang 2015 - F - China - - 0 - - ALS no dementia, no Paget’s disease of bone SQSTM1 SQSTM1 1 1 Johan den Dunnen
00147082 25708934-Pat3 PubMed: Yang 2015 - M - China - - 0 - - ALS no dementia, no Paget’s disease of bone SQSTM1 SQSTM1 1 1 Johan den Dunnen
00147083 25708934-Pat4 PubMed: Yang 2015 - F - China - - 0 - - ALS no dementia, no Paget’s disease of bone SQSTM1 SQSTM1 1 1 Johan den Dunnen
00147084 25708934-Pat5 PubMed: Yang 2015 - M - China - - 0 - - ALS no dementia, no Paget’s disease of bone SQSTM1 SQSTM1 1 1 Johan den Dunnen
00147085 25708934-Pat6 PubMed: Yang 2015 - M - China - - 0 - - ALS no dementia, no Paget’s disease of bone SQSTM1 SQSTM1 1 1 Johan den Dunnen
00149208 - - - - - Germany Caucasian - 0 - - ALS - GRN GRN 1 1 Marc Cruts
00149214 - - - - - Sweden Caucasian - 0 - - ALS - GRN GRN 1 1 Marc Cruts
00149546 - - - - - Italy Caucasian - 0 - - ALS - GRN GRN 1 1 Marc Cruts
00149547 - - - - - Italy Caucasian - 0 - - ALS - GRN GRN 1 1 Marc Cruts
00151565 25771394-Pat PubMed: Lin 2015, Journal: Lin 2015 - - - Taiwan Chinese, Han - 0 - - ALS - MATR3 MATR3 1 1 Johan den Dunnen
00151567 25771394-Pat PubMed: Lin 2015, Journal: Lin 2015 - - - Taiwan Chinese, Han - 0 - - ALS - MATR3 MATR3 1 1 Johan den Dunnen
00151568 25771394-Pat PubMed: Lin 2015, Journal: Lin 2015 - - - Taiwan Chinese, Han - 0 - - ALS - MATR3 MATR3 1 1 Johan den Dunnen
00152721 29086072-FamPat502 PubMed: Koroglu 2017 5-generation family, 5 affecteds (5M), unaffected heterozygous carrier parents/relatives M yes Turkey - - 0 - - ALS atrophy inarms, hands, distal lower extremities, paravertebral muscles, asymmetric tetraparesis, diminished tendon reflexes, unresponsive plantar reflexes; 20y lost ambulation GNE GNE 1 5 Johan den Dunnen
00152722 29086072-FamPat504 PubMed: Koroglu 2017 Pat504 M yes Turkey - - 0 - - ALS atrophy in arms and distal lower extremities and paravertebral muscles, asymmetric weakness all extremities, brisk tendon reflexes, bilateral Wartenberg sign, left Babinski sign, fasciculations, bulbar symptoms (uvula deviation to right and left palatal arch weakness); 44y-ambulant GNE ALDH1B1, ANKRD18B, ARHGEF39, FAM205A, GNE, GRHPR, KIF24, MELK, POLR1E, PRSS3, RECK, RUSC2, TESK1, TLN1, ZBTB5 22 1 Johan den Dunnen
00152723 29086072-FamPat507 PubMed: Koroglu 2017 Pat507 M yes Turkey - - 0 - - ALS asymmetric weakness in legs, atrophy paravertebral and distal lower extremity muscles, brisk tendon reflexes, unresponsive plantar reflexes; 27y-ambulant GNE GNE 1 1 Johan den Dunnen
00152724 29086072-FamPat508 PubMed: Koroglu 2017 Pat508 M yes Turkey - - 0 - - ALS atrophy in all limbs and paravertebral muscles, asymmetric weakness forearms and lower extremities; 17y-lost ambulation GNE GNE 1 1 Johan den Dunnen
00152725 29086072-FamPat512 PubMed: Koroglu 2017 Pat512 M yes Turkey - - 0 - - ALS severe atrophy in lower extremities and paravertebral muscles, generalized weakness, unresponsive plantar reflexes, diminished tendon reflexes, high arch feet, hammer toe; never walked GNE GNE 1 1 Johan den Dunnen
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