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 57 12 53 75 13 73
Amyotrophic Lateral Sclerosis Type 11 12 53 29 6 15
Als11 57 12 53 75
Sclerosis, Lateral, Amyotrophic, Type Type 11 40

Characteristics:

OMIM:

57
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:

32
amyotrophic lateral sclerosis 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612577
Disease Ontology 12 DOID:0060202
MedGen 42 C2675491
MeSH 44 D000690
SNOMED-CT via HPO 69 263681008 74035001 86044005
UMLS 73 C2675491

Summaries for Amyotrophic Lateral Sclerosis 11

UniProtKB/Swiss-Prot : 75 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 amyotrophic lateral sclerosis 20. 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 22)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 4, juvenile 10.0 ALS2 DAO SETX
2 amyotrophic lateral sclerosis 20 10.0 A1BG ALS2
3 amyotrophic lateral sclerosis 12 10.0 A1BG OPTN
4 juvenile amyotrophic lateral sclerosis 10.0 ALS2 FUS SETX
5 expressive language disorder 10.0 FUS TARDBP
6 amyotrophic lateral sclerosis 18 10.0 FUS TARDBP
7 lethal congenital contracture syndrome 1 9.9 FUS TARDBP
8 brown-vialetto-van laere syndrome 9.9 ALS2 TARDBP
9 anterior horn cell disease 9.9 FUS TARDBP
10 spinocerebellar ataxia 31 9.9 FUS SETX TARDBP
11 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.9 FUS TARDBP
12 dental anomalies and short stature 9.8 A1BG DUSP4
13 pick disease of brain 9.8 FUS TARDBP
14 amyotrophic lateral sclerosis 21 9.7 FUS OPTN SETX TARDBP
15 amyotrophic lateral sclerosis type 6 9.6 ALS2 DAO FUS SETX TARDBP
16 amyotrophic lateral sclerosis type 14 9.6 A1BG FUS OPTN TARDBP
17 motor neuron disease 9.6 ALS2 FUS OPTN SETX TARDBP
18 lateral sclerosis 9.3 ALS2 ANG FIG4 FUS OPTN SETX
19 amyotrophic lateral sclerosis 7 9.2 ALS2 ANG DAO FIG4 FUS OPTN
20 amyotrophic lateral sclerosis 9 9.2 ALS2 ANG DAO FIG4 FUS OPTN
21 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.2 ALS2 ANG DAO FIG4 FUS OPTN
22 amyotrophic lateral sclerosis 1 9.0 A1BG ALS2 ANG DAO FIG4 FUS

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Amyotrophic Lateral Sclerosis 11:

32
# Description HPO Frequency HPO Source Accession
1 skeletal muscle atrophy 32 HP:0003202
2 bulbar signs 32 HP:0002483
3 amyotrophic lateral sclerosis 32 HP:0007354
4 upper motor neuron dysfunction 32 HP:0002493

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 29 FIG4

Anatomical Context for Amyotrophic Lateral Sclerosis 11

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 11:

41
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:

75
# 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 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 cell death GO:0008219 8.62 ALS2 OPTN

Sources for Amyotrophic Lateral Sclerosis 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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