ALS4
MCID: AMY045
MIFTS: 47

Amyotrophic Lateral Sclerosis 4, Juvenile (ALS4)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Amyotrophic Lateral Sclerosis 4, Juvenile

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 4, Juvenile:

Name: Amyotrophic Lateral Sclerosis 4, Juvenile 56 12 13 71
Amyotrophic Lateral Sclerosis Type 4 12 52 58 29 6 15
Als4 56 52 58 73
Amyotrophic Lateral Sclerosis 4 12 52 73
Distal Hereditary Motor Neuropathy with Upper Motor Neuron Signs 12 58
Dhmn with Upper Motor Neuron Signs 12 58
Neuronopathy, Distal Hereditary Motor, with Pyramidal Features 56
Neuronopathy Distal Hereditary Motor with Pyramidal Features 73
Distal Hereditary Motor Neuropathy with Pyramidal Features 12
Sclerosis, Lateral, Amyotrophic, Type Type 4 39
Amyotrophic Lateral Sclerosis Juvenile 4 73
Als 4 12

Characteristics:

Orphanet epidemiological data:

58
amyotrophic lateral sclerosis type 4
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
childhood or adolescent onset (usually less than 25 years)
has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma)


HPO:

31
amyotrophic lateral sclerosis 4, juvenile:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060196
OMIM 56 602433
OMIM Phenotypic Series 56 PS105400
MeSH 43 D000690
ICD10 32 G12.2
ICD10 via Orphanet 33 G12.2
UMLS via Orphanet 72 C1865409
Orphanet 58 ORPHA357043
MedGen 41 C1865409
UMLS 71 C1865409

Summaries for Amyotrophic Lateral Sclerosis 4, Juvenile

UniProtKB/Swiss-Prot : 73 Amyotrophic lateral sclerosis 4: A form of amyotrophic lateral sclerosis with childhood- or adolescent- onset, and characterized by slow disease progression and the sparing of bulbar and respiratory muscles. Amyotrophic lateral sclerosis is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

MalaCards based summary : Amyotrophic Lateral Sclerosis 4, Juvenile, also known as amyotrophic lateral sclerosis type 4, is related to juvenile amyotrophic lateral sclerosis and spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, and has symptoms including upper motor neuron signs An important gene associated with Amyotrophic Lateral Sclerosis 4, Juvenile is SETX (Senataxin). Affiliated tissues include brain, spinal cord and skeletal muscle, and related phenotypes are skeletal muscle atrophy and babinski sign

Disease Ontology : 12 An amyotrophic lateral sclerosis with juvenile onset that has material basis in mutation in the SETX gene on chromosome 9.

OMIM : 56 Childhood- and adolescent-onset forms of familial ALS (see ALS1, 105400) carry the designation 'juvenile ALS.' Several forms of autosomal recessive juvenile ALS have been identified; see ALS2 (205100) and ALS5 (602099). (602433)

Related Diseases for Amyotrophic Lateral Sclerosis 4, Juvenile

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 1 Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 21 Amyotrophic Lateral Sclerosis 3
Amyotrophic Lateral Sclerosis 7 Amyotrophic Lateral Sclerosis 8
Amyotrophic Lateral Sclerosis 9 Amyotrophic Lateral Sclerosis 11
Amyotrophic Lateral Sclerosis 12 Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 17 Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 23 Amyotrophic Lateral Sclerosis 24
Amyotrophic Lateral Sclerosis 25 Amyotrophic Lateral Sclerosis Type 5
Amyotrophic Lateral Sclerosis Type 6 Amyotrophic Lateral Sclerosis Type 14
Amyotrophic Lateral Sclerosis Type 15 Amyotrophic Lateral Sclerosis Type 22
Tardbp-Related Amyotrophic Lateral Sclerosis

Diseases related to Amyotrophic Lateral Sclerosis 4, Juvenile via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 juvenile amyotrophic lateral sclerosis 32.6 SPG11 SETX IGHMBP2 FUS ALS2
2 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 30.6 SETX EXOSC9 ATXN1
3 amyotrophic lateral sclerosis 3 30.5 SUGCT ECE1 ALS2
4 muscular atrophy 29.3 VAPB TARDBP SETX IGHMBP2 FUS C9orf72
5 hereditary spastic paraplegia 29.0 SPG11 SETX C9orf72 ATXN2 ALS2
6 progressive muscular atrophy 28.9 VAPB TARDBP SOD1 FUS C9orf72 ATXN2
7 lateral sclerosis 28.7 VAPB TARDBP SPG11 SOD1 SETX FUS
8 amyotrophic lateral sclerosis 1 26.6 VAPB TARDBP SUGCT SPG11 SOD1 SETX
9 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 11.6
10 primary lateral sclerosis, adult, 1 10.4 SOD1 ALS2
11 charcot-marie-tooth hereditary neuropathy 10.4 SETX IGHMBP2
12 distal hereditary motor neuropathies 10.4 SETX IGHMBP2
13 associative agnosia 10.3 TARDBP C9orf72
14 motor peripheral neuropathy 10.3 SPG11 SETX IGHMBP2
15 amyotrophic lateral sclerosis, juvenile, with dementia 10.3 C9orf72 ANG
16 spastic paraplegia 57, autosomal recessive 10.3 SPG11 ALS2
17 semantic dementia 10.3 TARDBP C9orf72
18 agraphia 10.3 TARDBP C9orf72
19 dysgraphia 10.2 TARDBP C9orf72
20 pseudobulbar palsy 10.2 TARDBP C9orf72 ALS2
21 nominal aphasia 10.2 TARDBP FUS C9orf72
22 aphasia 10.2 TARDBP FUS C9orf72
23 spastic paraplegia 64, autosomal recessive 10.2 SPG11 SETX FUS ALS2
24 prosopagnosia 10.2 TARDBP C9orf72
25 perry syndrome 10.2 TARDBP FUS C9orf72
26 amyotrophic lateral sclerosis 20 10.2 SPG11 C9orf72 ALS2
27 writing disorder 10.2 TARDBP C9orf72
28 movement disease 10.1 TARDBP FUS C9orf72
29 neuronopathy, distal hereditary motor, type i 10.1
30 apraxia 10.1
31 oral candidiasis 10.1
32 candidiasis 10.1
33 als2-related disorders 10.1
34 oculomotor apraxia 10.1
35 amyotrophic lateral sclerosis 18 10.1 VAPB SETX FUS FIG4 ALS2
36 charcot-marie-tooth disease, axonal, type 2cc 10.1 SOD1 C9orf72
37 amyotrophic lateral sclerosis 19 10.1 TARDBP SOD1 C9orf72 ALS2
38 amyotrophic lateral sclerosis type 14 10.0 VAPB SETX FUS C9orf72 ALS2
39 dementia, lewy body 10.0 TARDBP SOD1 FUS C9orf72
40 pick disease of brain 10.0 TARDBP SOD1 FUS C9orf72
41 amyotrophic lateral sclerosis 17 10.0 VAPB SPG11 SETX FIG4 ALS2
42 primary cerebellar degeneration 10.0 ATXN2 ATXN1
43 spinal muscular atrophy, distal, autosomal recessive, 1 10.0 SETX IGHMBP2
44 amyotrophic lateral sclerosis type 15 10.0 VAPB SPG11 SETX C9orf72 ALS2
45 spinocerebellar ataxia 36 9.9 C9orf72 ATXN2
46 amyotrophic lateral sclerosis 7 9.9 SUGCT SPG11 SETX ANG ALS2
47 spinocerebellar ataxia 29 9.9 SETX ATXN2 ATXN1
48 speech and communication disorders 9.9 TARDBP FUS C9orf72
49 cerebellar disease 9.9 SETX ATXN2 ATXN1
50 amyotrophic lateral sclerosis type 5 9.9 VAPB SPG11 SOD1 SETX ECE1 ALS2

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 4, Juvenile:



Diseases related to Amyotrophic Lateral Sclerosis 4, Juvenile

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 4, Juvenile

Human phenotypes related to Amyotrophic Lateral Sclerosis 4, Juvenile:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
2 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
3 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
4 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
5 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
6 spastic paraplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001258
7 sensory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0003474
8 clonus 31 occasional (7.5%) HP:0002169
9 hyperreflexia 31 HP:0001347
10 abnormal pyramidal sign 58 Frequent (79-30%)
11 amyotrophic lateral sclerosis 31 HP:0007354
12 difficulty walking 31 HP:0002355
13 diffuse axonal swelling 31 HP:0003405
14 abnormal upper motor neuron morphology 31 HP:0002127
15 abnormal lower motor neuron morphology 31 HP:0002366
16 degeneration of anterior horn cells 31 HP:0002398
17 axonal degeneration 31 HP:0040078
18 peripheral axonal degeneration 31 HP:0000764
19 pallor of dorsal columns of the spinal cord 31 HP:0006825

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
difficulty walking
diffuse axonal swelling
upper motor neuron signs
pallor of dorsal columns of the spinal cord
more
Skeletal Feet:
pes cavus has been reported

Neurologic Peripheral Nervous System:
diffuse axonal swelling
axonal degeneration
no sensory abnormalities

Clinical features from OMIM:

602433

UMLS symptoms related to Amyotrophic Lateral Sclerosis 4, Juvenile:


upper motor neuron signs

GenomeRNAi Phenotypes related to Amyotrophic Lateral Sclerosis 4, Juvenile according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 10.12 SOD1
2 Decreased viability GR00221-A-3 10.12 SOD1
3 Decreased viability GR00221-A-4 10.12 FUS SOD1
4 Decreased viability GR00240-S-1 10.12 PCF11
5 Decreased viability GR00381-A-1 10.12 ANG ECE1 FIG4 PCF11
6 Decreased viability GR00402-S-2 10.12 ALS2 ANG ATXN1 ATXN2 C14orf178 C9orf72
7 no effect GR00402-S-1 9.62 ALS2 ANG ATXN1 ATXN2 C14orf178 C9orf72

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 4, Juvenile:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 ALS2 ANG ATXN1 ATXN2 C9orf72 ECE1
2 muscle MP:0005369 9.56 ALS2 ATXN1 ECE1 FIG4 IGHMBP2 SOD1
3 nervous system MP:0003631 9.36 ALS2 ATXN1 ATXN2 C9orf72 ECE1 FIG4

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 4, Juvenile

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inflammation in Amyotrophic Lateral Sclerosis - a Study of Soluble Cluster of Differentiation 163 in the Cerebrospinal Fluid Completed NCT02325375

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 4, Juvenile

Genetic Tests for Amyotrophic Lateral Sclerosis 4, Juvenile

Genetic tests related to Amyotrophic Lateral Sclerosis 4, Juvenile:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 4 29 SETX

Anatomical Context for Amyotrophic Lateral Sclerosis 4, Juvenile

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 4, Juvenile:

40
Brain, Spinal Cord, Skeletal Muscle, Bone

Publications for Amyotrophic Lateral Sclerosis 4, Juvenile

Articles related to Amyotrophic Lateral Sclerosis 4, Juvenile:

(show all 13)
# Title Authors PMID Year
1
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). 56 6
15106121 2004
2
Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. 56 6
9497266 1998
3
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 6
21914052 2012
4
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? 56
12023320 2002
5
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001
6
A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34. 56
11085590 2000
7
Autosomal dominant juvenile amyotrophic lateral sclerosis. 56
10430837 1999
8
NERVE CONDUCTION AND OTHER STUDIES IN FAMILIES WITH CHARCOT-MARIE-TOOTH DISEASE. 56
14236005 1964
9
Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients. 61
29725819 2018
10
Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration. 61
27771483 2017
11
Human Senataxin Modulates Structural Plasticity of the Neuromuscular Junction in Drosophila through a Neuronally Conserved TGFβ Signalling Pathway. 61
27197982 2016
12
Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide. 61
24244371 2013
13
Senataxin modulates neurite growth through fibroblast growth factor 8 signalling. 61
21576111 2011

Variations for Amyotrophic Lateral Sclerosis 4, Juvenile

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 4, Juvenile:

6 (show top 50) (show all 131) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SETX NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)SNV Pathogenic 2289 rs29001584 9:135205819-135205819 9:132330432-132330432
2 SETX NM_015046.7(SETX):c.5264del (p.Thr1755fs)deletion Pathogenic 572675 rs776632212 9:135201721-135201721 9:132326334-132326334
3 SETX NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs)deletion Pathogenic 802521 9:135150741-135150747 9:132275354-132275360
4 SETX NM_015046.5(SETX):c.6848_6851delCAGA (p.Thr2283Lysfs)deletion Pathogenic/Likely pathogenic 95668 rs398124286 9:135152531-135152534 9:132277144-132277147
5 SETX NM_015046.7(SETX):c.8C>T (p.Thr3Ile)SNV Likely pathogenic 2290 rs28941475 9:135224808-135224808 9:132349421-132349421
6 SETX NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr)SNV Likely pathogenic 802522 9:135171348-135171348 9:132295961-132295961
7 SETX NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)SNV Conflicting interpretations of pathogenicity 639918 9:135164023-135164023 9:132288636-132288636
8 SETX NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)SNV Conflicting interpretations of pathogenicity 155746 rs534886444 9:135202712-135202712 9:132327325-132327325
9 SETX NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala)SNV Conflicting interpretations of pathogenicity 663550 9:135176092-135176092 9:132300705-132300705
10 SETX NM_015046.7(SETX):c.1343A>G (p.Asp448Gly)SNV Conflicting interpretations of pathogenicity 573505 rs370363342 9:135205642-135205642 9:132330255-132330255
11 SETX NM_015046.7(SETX):c.6407G>A (p.Arg2136His)SNV Conflicting interpretations of pathogenicity 2291 rs121434378 9:135158790-135158790 9:132283403-132283403
12 SETX NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)SNV Conflicting interpretations of pathogenicity 424692 rs148604312 9:135203159-135203159 9:132327772-132327772
13 SETX NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)SNV Conflicting interpretations of pathogenicity 468516 rs146873848 9:135202003-135202003 9:132326616-132326616
14 SETX NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)SNV Conflicting interpretations of pathogenicity 468494 rs150532677 9:135204506-135204506 9:132329119-132329119
15 SETX NM_015046.7(SETX):c.5949+5G>ASNV Conflicting interpretations of pathogenicity 488730 rs374656811 9:135172269-135172269 9:132296882-132296882
16 SETX NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser)SNV Uncertain significance 536379 rs1240232139 9:135139952-135139952 9:132264565-132264565
17 SETX NM_015046.7(SETX):c.5464A>G (p.Lys1822Glu)SNV Uncertain significance 536391 rs1249423284 9:135176101-135176101 9:132300714-132300714
18 SETX NM_015046.7(SETX):c.3057_3059TGA[4] (p.Asp1023_Asp1024del)short repeat Uncertain significance 536381 rs572772837 9:135203911-135203916 9:132328524-132328529
19 SETX NM_015046.7(SETX):c.2749A>C (p.Met917Leu)SNV Uncertain significance 536394 rs761943404 9:135204236-135204236 9:132328849-132328849
20 SETX NM_015046.7(SETX):c.1153G>A (p.Glu385Lys)SNV Uncertain significance 536386 rs1554821963 9:135205832-135205832 9:132330445-132330445
21 SETX NM_015046.7(SETX):c.64G>T (p.Ala22Ser)SNV Uncertain significance 536392 rs756600708 9:135224752-135224752 9:132349365-132349365
22 SETX NM_015046.7(SETX):c.5767A>G (p.Thr1923Ala)SNV Uncertain significance 536390 rs372993859 9:135173481-135173481 9:132298094-132298094
23 SETX NM_015046.7(SETX):c.4979A>G (p.His1660Arg)SNV Uncertain significance 536377 rs371894414 9:135202006-135202006 9:132326619-132326619
24 SETX NM_015046.7(SETX):c.2303A>T (p.Lys768Met)SNV Uncertain significance 468492 rs1554821462 9:135204682-135204682 9:132329295-132329295
25 SETX NM_015046.7(SETX):c.4051C>G (p.Gln1351Glu)SNV Uncertain significance 468504 rs375241191 9:135202934-135202934 9:132327547-132327547
26 SETX NM_015046.7(SETX):c.2854A>G (p.Thr952Ala)SNV Uncertain significance 468496 rs1375463032 9:135204131-135204131 9:132328744-132328744
27 SETX NM_015046.7(SETX):c.2446A>G (p.Thr816Ala)SNV Uncertain significance 468493 rs369470593 9:135204539-135204539 9:132329152-132329152
28 SETX NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr)SNV Uncertain significance 468490 rs143727702 9:135204980-135204980 9:132329593-132329593
29 SETX NM_015046.7(SETX):c.71A>G (p.Asn24Ser)SNV Uncertain significance 468524 rs981346599 9:135224745-135224745 9:132349358-132349358
30 SETX NM_015046.7(SETX):c.4903T>A (p.Leu1635Met)SNV Uncertain significance 468515 rs1466879487 9:135202082-135202082 9:132326695-132326695
31 SETX NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser)SNV Uncertain significance 468511 rs1554820196 9:135202315-135202315 9:132326928-132326928
32 SETX NM_015046.7(SETX):c.2755G>C (p.Val919Leu)SNV Uncertain significance 536395 rs561190371 9:135204230-135204230 9:132328843-132328843
33 SETX NM_015046.7(SETX):c.2411T>C (p.Leu804Ser)SNV Uncertain significance 536380 rs201096140 9:135204574-135204574 9:132329187-132329187
34 SETX NM_015046.7(SETX):c.968G>A (p.Ser323Asn)SNV Uncertain significance 536383 rs372193033 9:135206706-135206706 9:132331319-132331319
35 SETX NM_015046.7(SETX):c.3422A>T (p.His1141Leu)SNV Uncertain significance 536393 rs1554820904 9:135203563-135203563 9:132328176-132328176
36 SETX NM_015046.7(SETX):c.208A>G (p.Ile70Val)SNV Uncertain significance 536373 rs747469176 9:135221828-135221828 9:132346441-132346441
37 SETX NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile)SNV Uncertain significance 536388 rs368269464 9:135140000-135140000 9:132264613-132264613
38 SETX NM_015046.7(SETX):c.7433C>G (p.Thr2478Ser)SNV Uncertain significance 536376 rs771027936 9:135140227-135140227 9:132264840-132264840
39 SETX NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser)SNV Uncertain significance 536389 rs1382990384 9:135140247-135140247 9:132264860-132264860
40 SETX NM_015046.7(SETX):c.4683G>C (p.Gln1561His)SNV Uncertain significance 536374 rs772991134 9:135202302-135202302 9:132326915-132326915
41 SETX NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp)SNV Uncertain significance 536387 rs1297541939 9:135203523-135203523 9:132328136-132328136
42 SETX NM_015046.7(SETX):c.2404A>G (p.Ser802Gly)SNV Uncertain significance 536384 rs1400027699 9:135204581-135204581 9:132329194-132329194
43 SETX NM_015046.7(SETX):c.2339C>T (p.Thr780Ile)SNV Uncertain significance 536378 rs1554821445 9:135204646-135204646 9:132329259-132329259
44 SETX NM_015046.7(SETX):c.2254A>G (p.Thr752Ala)SNV Uncertain significance 536375 rs745938575 9:135204731-135204731 9:132329344-132329344
45 SETX NM_015046.7(SETX):c.2123G>T (p.Ser708Ile)SNV Uncertain significance 536385 rs1554821571 9:135204862-135204862 9:132329475-132329475
46 SETX NM_015046.7(SETX):c.667C>G (p.Leu223Val)SNV Uncertain significance 536382 rs774068411 9:135211734-135211734 9:132336347-132336347
47 SETX NM_015046.7(SETX):c.7534C>T (p.Pro2512Ser)SNV Uncertain significance 568527 rs557347174 9:135140126-135140126 9:132264739-132264739
48 SETX NM_015046.7(SETX):c.6922A>G (p.Arg2308Gly)SNV Uncertain significance 571061 rs370135596 9:135152460-135152460 9:132277073-132277073
49 SETX NM_015046.7(SETX):c.5104G>A (p.Val1702Ile)SNV Uncertain significance 575379 rs61745659 9:135201881-135201881 9:132326494-132326494
50 SETX NM_015046.7(SETX):c.4757C>T (p.Pro1586Leu)SNV Uncertain significance 572586 rs1165229035 9:135202228-135202228 9:132326841-132326841

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 4, Juvenile:

73
# Symbol AA change Variation ID SNP ID
1 SETX p.Thr3Ile VAR_018776 rs28941475
2 SETX p.Leu389Ser VAR_018779 rs29001584
3 SETX p.Arg2136His VAR_018790 rs121434378
4 SETX p.Cys1554Gly VAR_071685 rs112089123
5 SETX p.Lys2029Glu VAR_071686 rs746525639
6 SETX p.Ile2547Thr VAR_071688 rs151117904

Expression for Amyotrophic Lateral Sclerosis 4, Juvenile

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 4, Juvenile.

Pathways for Amyotrophic Lateral Sclerosis 4, Juvenile

GO Terms for Amyotrophic Lateral Sclerosis 4, Juvenile

Cellular components related to Amyotrophic Lateral Sclerosis 4, Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.73 XRN2 SPG11 SETX EXOSC9 ATXN1 ANG
2 axon GO:0030424 9.35 SPG11 SETX IGHMBP2 C9orf72 ALS2
3 cytoplasmic stress granule GO:0010494 9.33 TARDBP C9orf72 ATXN2
4 growth cone GO:0030426 9.02 SETX IGHMBP2 C9orf72 ANG ALS2

Biological processes related to Amyotrophic Lateral Sclerosis 4, Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.33 SOD1 FIG4 ALS2
2 stress granule assembly GO:0034063 9.32 C9orf72 ATXN2
3 gene expression GO:0010467 9.26 TARDBP FUS
4 DNA-templated transcription, termination GO:0006353 8.96 XRN2 SETX
5 RNA processing GO:0006396 8.92 XRN2 SETX EXOSC9 ATXN1

Molecular functions related to Amyotrophic Lateral Sclerosis 4, Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.63 TARDBP SOD1 SETX IGHMBP2 FUS ATXN1
2 RNA binding GO:0003723 9.56 XRN2 TARDBP SETX IGHMBP2 FUS EXOSC9
3 transcription termination site sequence-specific DNA binding GO:0001147 8.62 XRN2 SETX

Sources for Amyotrophic Lateral Sclerosis 4, Juvenile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
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17 EFO
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30 HMDB
31 HPO
32 ICD10
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39 LOVD
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61 PubMed
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