MCID: AMY023
MIFTS: 36

Amyotrophic Lateral Sclerosis Type 6 malady

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis Type 6

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Aliases & Descriptions for Amyotrophic Lateral Sclerosis Type 6:

Name: Amyotrophic Lateral Sclerosis Type 6 11 46 13 25
Autosomal Recessive Amyotrophic Lateral Sclerosis 6 11 25
Als6 11 46
 
Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia 11
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive 66
Amyotrophic Lateral Sclerosis 6 66

Classifications:



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Disease Ontology11 DOID:0060198

Summaries for Amyotrophic Lateral Sclerosis Type 6

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Disease Ontology:11 A type of als caused by mutation located in fus gene located in chromosome 16.

MalaCards based summary: Amyotrophic Lateral Sclerosis Type 6, also known as autosomal recessive amyotrophic lateral sclerosis 6, is related to amyotrophic lateral sclerosis 6, with or without frontotemporal dementia and subdural empyema. An important gene associated with Amyotrophic Lateral Sclerosis Type 6 is FUS (FUS RNA Binding Protein), and among its related pathways is Neuroscience. Affiliated tissues include fus gene and testes, and related mouse phenotypes are behavior/neurological and nervous system.

Related Diseases for Amyotrophic Lateral Sclerosis Type 6

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Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 2, Juvenile Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 17 Amyotrophic Lateral Sclerosis 21
Amyotrophic Lateral Sclerosis 11 Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile Amyotrophic Lateral Sclerosis 12
Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 9
Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 3 Amyotrophic Lateral Sclerosis 7
Amyotrophic Lateral Sclerosis 8 Amyotrophic Lateral Sclerosis 1
Amyotrophic Lateral Sclerosis Type 2 Amyotrophic Lateral Sclerosis Type 4
Amyotrophic Lateral Sclerosis Type 5 amyotrophic lateral sclerosis type 6
Amyotrophic Lateral Sclerosis Type 10 Amyotrophic Lateral Sclerosis Type 14
Amyotrophic Lateral Sclerosis Type 15 Amyotrophic Lateral Sclerosis Type 16
Tardbp-Related Amyotrophic Lateral Sclerosis Als5-Related Amyotrophic Lateral Sclerosis
Erbb4-Related Amyotrophic Lateral Sclerosis Hnrnpa1-Related Amyotrophic Lateral Sclerosis
Ang-Related Amyotrophic Lateral Sclerosis Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis
Fig4-Related Amyotrophic Lateral Sclerosis Fus-Related Amyotrophic Lateral Sclerosis
Optn-Related Amyotrophic Lateral Sclerosis Pfn1-Related Amyotrophic Lateral Sclerosis
Setx-Related Amyotrophic Lateral Sclerosis Sigmar1-Related Amyotrophic Lateral Sclerosis
Sod1-Related Amyotrophic Lateral Sclerosis Vapb-Related Amyotrophic Lateral Sclerosis

Diseases related to Amyotrophic Lateral Sclerosis Type 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1amyotrophic lateral sclerosis 6, with or without frontotemporal dementia12.7
2subdural empyema10.7FUS, TARDBP
3amyotrophic lateral sclerosis type 1010.6ALS2, SPG11
42q33.1 microdeletion syndrome10.6MAP2, SYP
5amyotrophic lateral sclerosis type 510.5ALS2, SOD1
6anal sphincter dysplasia10.5ALS2, FUS, SPG11
7amyotrophic lateral sclerosis type 1610.5FUS, OPTN, TARDBP
8chiari malformation type 410.5MAP2, SYP
9osteogenesis imperfecta, type vi10.5FUS, SOD1, TARDBP
10fetal alcohol spectrum disorder10.4ALS2, SOD1, TARDBP
11suppurative thyroiditis10.4SYP, TARDBP
12pick disease10.4FUS, SOD1, TARDBP
13large cell carcinoma10.4FUS, SYP
14vitamin metabolic disorder10.4SOD1, SYP
15intracystic papillary adenoma10.4MAP2, SYP
16arthrogryposis, lethal, with anterior horn cell disease10.4FUS, TARDBP
17angora hair nevus10.3FUS, SYP
18trochlear nerve neoplasm10.3MAP2, OPTN, SYP
19adenomyoma of uterine corpus10.3MAP2, OPTN, SYP
20congenital hypogammaglobulinemia10.2MAP2, SYP
21neuromyotonia and axonal neuropathy, autosomal recessive10.2FUS, OPTN, SOD1, TARDBP
22mucopolysaccharidosis iii10.2ALS2, OPTN, SOD1, TARDBP
23angiomyolipoma10.2FUS, HTT, SOD1, TARDBP
24anti-p200 pemphigoid10.1MAP2, TARDBP
25lateral sclerosis10.0
26chronic intestinal vascular insufficiency9.9FUS, HTT, OPTN, SOD1, TARDBP
27yunis-varon syndrome9.7ALS2, ANG, DAO, FIG4, FUS, OPTN
28amyotrophic lateral sclerosis type 159.7ALS2, ANG, DAO, FIG4, FUS, OPTN
29atrophy of prostate9.6ALS2, ANG, FIG4, FUS, OPTN, SOD1
30retinitis pigmentosa 469.0ALS2, ANG, CTSC, DAO, FIG4, FUS
31specific granule deficiency8.7ALS2, ANG, CTSC, DAO, FIG4, FUS
32long qt syndrome 58.0ALS2, ANG, CTSC, DAO, FIG4, FUS
33amyotrophic lateral sclerosis type 144.4ALS2, ANG, CTSC, DAO, FIG4, FUS

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis Type 6:



Diseases related to amyotrophic lateral sclerosis type 6

Symptoms for Amyotrophic Lateral Sclerosis Type 6

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Drugs & Therapeutics for Amyotrophic Lateral Sclerosis Type 6

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Drugs for Amyotrophic Lateral Sclerosis Type 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1insulinPhase 34401
2
ZincPhase 321547440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
3
Menthol21842216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) TrialCompletedNCT00035815Phase 3
2Phase II/III Randomized, Placebo-controlled Trial of Arimoclomol in SOD1 Positive Familial Amyotrophic Lateral SclerosisActive, not recruitingNCT00706147Phase 2, Phase 3
3Relationship Between Respiratory Functional Tests and Image Thoracic Techniques in Patients With Neuromuscular DiseasesCompletedNCT01090674
4European Home Mechanical Ventilation RegistryRecruitingNCT02315339

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis Type 6

Genetic Tests for Amyotrophic Lateral Sclerosis Type 6

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Genetic tests related to Amyotrophic Lateral Sclerosis Type 6:

id Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 625
2 Amyotrophic Lateral Sclerosis 6, Autosomal Recessive25

Anatomical Context for Amyotrophic Lateral Sclerosis Type 6

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MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis Type 6:

34
Testes

FMA organs/tissues related to Amyotrophic Lateral Sclerosis Type 6:

17
Fus gene

Animal Models for Amyotrophic Lateral Sclerosis Type 6 or affiliated genes

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MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis Type 6:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.6ALS2, CTSC, DAO, FIG4, HTT, MAP2
2MP:00036317.1ALS2, CTSC, DAO, FIG4, HTT, MAP2

Publications for Amyotrophic Lateral Sclerosis Type 6

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Articles related to Amyotrophic Lateral Sclerosis Type 6:

idTitleAuthorsYear
1
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. (19251628)
2009

Variations for Amyotrophic Lateral Sclerosis Type 6

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Clinvar genetic disease variations for Amyotrophic Lateral Sclerosis Type 6:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FUSNM_004960.3(FUS): c.646C> T (p.Arg216Cys)single nucleotide variantPathogenicrs267606832GRCh37Chr 16, 31196382: 31196382

Expression for genes affiliated with Amyotrophic Lateral Sclerosis Type 6

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Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis Type 6.

Pathways for genes affiliated with Amyotrophic Lateral Sclerosis Type 6

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Pathways related to Amyotrophic Lateral Sclerosis Type 6 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
18.5HTT, MAP2, SOD1, SYP, TARDBP, THY1

GO Terms for genes affiliated with Amyotrophic Lateral Sclerosis Type 6

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Cellular components related to Amyotrophic Lateral Sclerosis Type 6 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1growth coneGO:00304269.7ALS2, ANG, THY1
2neuron projectionGO:00430059.5ALS2, MAP2, SOD1, SYP
3neuronal cell bodyGO:00430259.2ALS2, ANG, FUS, HTT, SOD1
4nucleosomeGO:00007869.2HIST2H2AA3, HIST2H2AC, HIST2H2BE
5dendriteGO:00304258.7ALS2, FUS, HTT, SPG11, THY1
6extracellular exosomeGO:00700626.1ANG, CTSC, HIST2H2AA3, HIST2H2AC, HIST2H2BE, MPP5

Biological processes related to Amyotrophic Lateral Sclerosis Type 6 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myelin assemblyGO:003228810.3FIG4, MPP5
2peripheral nervous system myelin maintenanceGO:003228710.2MPP5, SOD1
3locomotory behaviorGO:00076269.8ALS2, FIG4, SOD1

Molecular functions related to Amyotrophic Lateral Sclerosis Type 6 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428028.0CTSC, FUS, HTT, OPTN, PRMT1, SOD1
2protein bindingGO:00055155.5ALS2, ANG, CTSC, DAO, FIG4, FUS

Sources for Amyotrophic Lateral Sclerosis Type 6

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet