ALS11
MCID: AMY083
MIFTS: 31

Amyotrophic Lateral Sclerosis 11 (ALS11)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 11

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 11:

Name: Amyotrophic Lateral Sclerosis 11 58 12 54 76 13 74
Amyotrophic Lateral Sclerosis Type 11 12 54 30 6 15
Als11 58 12 54 76
Sclerosis, Lateral, Amyotrophic, Type Type 11 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
average age of onset 56 years
median disease duration 2.6 years (two patients had disease duration greater than 20 years)


HPO:

33
amyotrophic lateral sclerosis 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060202
OMIM 58 612577
MeSH 45 D000690
MedGen 43 C2675491
SNOMED-CT via HPO 70 263681008 74035001 86044005
UMLS 74 C2675491

Summaries for Amyotrophic Lateral Sclerosis 11

UniProtKB/Swiss-Prot : 76 Amyotrophic lateral sclerosis 11: 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 11, also known as amyotrophic lateral sclerosis type 11, is related to amyotrophic lateral sclerosis 4, juvenile and juvenile amyotrophic lateral sclerosis. An important gene associated with Amyotrophic Lateral Sclerosis 11 is FIG4 (FIG4 Phosphoinositide 5-Phosphatase). Affiliated tissues include brain, spinal cord and testes, and related phenotypes are skeletal muscle atrophy and bulbar signs

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the FIG4 gene on chromosome 6.

Description from OMIM: 612577

Related Diseases for Amyotrophic Lateral Sclerosis 11

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 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 4, juvenile 9.9 ALS2 DAO SETX
2 juvenile amyotrophic lateral sclerosis 9.8 ALS2 FUS SETX
3 expressive language disorder 9.8 FUS TARDBP
4 brown-vialetto-van laere syndrome 9.8 ALS2 TARDBP
5 amyotrophic lateral sclerosis 18 9.8 FUS TARDBP
6 lethal congenital contracture syndrome 1 9.7 FUS TARDBP
7 anterior horn cell disease 9.7 FUS TARDBP
8 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.6 FUS TARDBP
9 spinocerebellar ataxia 31 9.5 FUS SETX TARDBP
10 pick disease of brain 9.5 FUS TARDBP
11 amyotrophic lateral sclerosis type 14 9.4 FUS OPTN TARDBP
12 amyotrophic lateral sclerosis 21 9.2 FUS OPTN SETX TARDBP
13 amyotrophic lateral sclerosis type 6 9.2 ALS2 DAO FUS SETX TARDBP
14 motor neuron disease 9.0 ALS2 FUS OPTN SETX TARDBP
15 lateral sclerosis 8.6 ALS2 ANG FIG4 FUS OPTN SETX
16 amyotrophic lateral sclerosis 1 8.4 ALS2 ANG DAO FIG4 FUS OPTN
17 amyotrophic lateral sclerosis 7 8.4 ALS2 ANG DAO FIG4 FUS OPTN
18 amyotrophic lateral sclerosis 9 8.3 ALS2 ANG DAO FIG4 FUS OPTN
19 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 8.3 ALS2 ANG DAO FIG4 FUS OPTN

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 11:



Diseases related to Amyotrophic Lateral Sclerosis 11

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 11

Human phenotypes related to Amyotrophic Lateral Sclerosis 11:

33
# Description HPO Frequency HPO Source Accession
1 skeletal muscle atrophy 33 HP:0003202
2 bulbar signs 33 HP:0002483
3 amyotrophic lateral sclerosis 33 HP:0007354
4 upper motor neuron dysfunction 33 HP:0002493

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
bulbar signs
denervation seen on emg
prominent corticospinal tract pathology
pseudobulbar affect

Muscle Soft Tissue:
atrophic fibers seen on biopsy (in 1 patient)

Clinical features from OMIM:

612577

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 11

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chewing Efficiency Measured by a Two Colour Chewing Gum Test in Amyotrophic Lateral Sclerosis (ALS) Patients? Recruiting NCT01772888

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 11

Genetic Tests for Amyotrophic Lateral Sclerosis 11

Genetic tests related to Amyotrophic Lateral Sclerosis 11:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 11 30 FIG4

Anatomical Context for Amyotrophic Lateral Sclerosis 11

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 11:

42
Brain, Spinal Cord, Testes, Skeletal Muscle

Publications for Amyotrophic Lateral Sclerosis 11

Variations for Amyotrophic Lateral Sclerosis 11

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 11:

76
# Symbol AA change Variation ID SNP ID
1 FIG4 p.Asp53Tyr VAR_054832 rs121908290

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 11:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 FIG4 NM_014845.5(FIG4): c.122T> C (p.Ile41Thr) single nucleotide variant Pathogenic rs121908287 GRCh37 Chromosome 6, 110036336: 110036336
2 FIG4 NM_014845.5(FIG4): c.122T> C (p.Ile41Thr) single nucleotide variant Pathogenic rs121908287 GRCh38 Chromosome 6, 109715133: 109715133
3 FIG4 NM_014845.5(FIG4): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs121908288 GRCh37 Chromosome 6, 110056402: 110056402
4 FIG4 NM_014845.5(FIG4): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs121908288 GRCh38 Chromosome 6, 109735199: 109735199
5 FIG4 FIG4, IVS11DS, G-T, +5 single nucleotide variant Pathogenic
6 FIG4 NM_014845.5(FIG4): c.157G> T (p.Asp53Tyr) single nucleotide variant Pathogenic rs121908290 GRCh37 Chromosome 6, 110036371: 110036371
7 FIG4 NM_014845.5(FIG4): c.157G> T (p.Asp53Tyr) single nucleotide variant Pathogenic rs121908290 GRCh38 Chromosome 6, 109715168: 109715168
8 FIG4 NM_014845.5(FIG4): c.67-7T> C single nucleotide variant Benign/Likely benign rs56378532 GRCh37 Chromosome 6, 110036274: 110036274
9 FIG4 NM_014845.5(FIG4): c.67-7T> C single nucleotide variant Benign/Likely benign rs56378532 GRCh38 Chromosome 6, 109715071: 109715071
10 FIG4 NM_014845.5(FIG4): c.1090A> T (p.Met364Leu) single nucleotide variant Benign/Likely benign rs2295837 GRCh37 Chromosome 6, 110064928: 110064928
11 FIG4 NM_014845.5(FIG4): c.1090A> T (p.Met364Leu) single nucleotide variant Benign/Likely benign rs2295837 GRCh38 Chromosome 6, 109743725: 109743725
12 FIG4 NM_014845.5(FIG4): c.759delG (p.Phe254Serfs) deletion Pathogenic rs764717219 GRCh37 Chromosome 6, 110059640: 110059640
13 FIG4 NM_014845.5(FIG4): c.759delG (p.Phe254Serfs) deletion Pathogenic rs764717219 GRCh38 Chromosome 6, 109738437: 109738437
14 FIG4 NM_014845.5(FIG4): c.919G> A (p.Asp307Asn) single nucleotide variant Uncertain significance rs573441014 GRCh37 Chromosome 6, 110064355: 110064355
15 FIG4 NM_014845.5(FIG4): c.919G> A (p.Asp307Asn) single nucleotide variant Uncertain significance rs573441014 GRCh38 Chromosome 6, 109743152: 109743152
16 FIG4 NM_014845.5(FIG4): c.1619C> T (p.Thr540Ile) single nucleotide variant Uncertain significance rs1057519386 GRCh37 Chromosome 6, 110087967: 110087967
17 FIG4 NM_014845.5(FIG4): c.1619C> T (p.Thr540Ile) single nucleotide variant Uncertain significance rs1057519386 GRCh38 Chromosome 6, 109766764: 109766764
18 FIG4 NM_014845.5(FIG4): c.1940A> G (p.Tyr647Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150301327 GRCh37 Chromosome 6, 110106223: 110106223
19 FIG4 NM_014845.5(FIG4): c.1940A> G (p.Tyr647Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150301327 GRCh38 Chromosome 6, 109785020: 109785020
20 FIG4 NM_014845.5(FIG4): c.2558C> T (p.Ser853Leu) single nucleotide variant Uncertain significance rs774805375 GRCh37 Chromosome 6, 110146302: 110146302
21 FIG4 NM_014845.5(FIG4): c.2558C> T (p.Ser853Leu) single nucleotide variant Uncertain significance rs774805375 GRCh38 Chromosome 6, 109825099: 109825099
22 FIG4 NM_014845.5(FIG4): c.1948+3A> G single nucleotide variant Benign rs10499054 GRCh37 Chromosome 6, 110106234: 110106234
23 FIG4 NM_014845.5(FIG4): c.1948+3A> G single nucleotide variant Benign rs10499054 GRCh38 Chromosome 6, 109785031: 109785031
24 FIG4 NM_014845.5(FIG4): c.834A> T (p.Lys278Asn) single nucleotide variant Uncertain significance rs138048706 GRCh37 Chromosome 6, 110062705: 110062705
25 FIG4 NM_014845.5(FIG4): c.834A> T (p.Lys278Asn) single nucleotide variant Uncertain significance rs138048706 GRCh38 Chromosome 6, 109741502: 109741502

Expression for Amyotrophic Lateral Sclerosis 11

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 11.

Pathways for Amyotrophic Lateral Sclerosis 11

GO Terms for Amyotrophic Lateral Sclerosis 11

Cellular components related to Amyotrophic Lateral Sclerosis 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.13 ALS2 ANG FUS
2 growth cone GO:0030426 8.8 ALS2 ANG SETX

Biological processes related to Amyotrophic Lateral Sclerosis 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 8.96 ALS2 FIG4
2 cell death GO:0008219 8.62 ALS2 OPTN

Molecular functions related to Amyotrophic Lateral Sclerosis 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.92 FUS OPTN SETX TARDBP

Sources for Amyotrophic Lateral Sclerosis 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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