ALS17
MCID: AMY055
MIFTS: 26

Amyotrophic Lateral Sclerosis 17 (ALS17)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 17

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 17:

Name: Amyotrophic Lateral Sclerosis 17 58 12 76 30 13 6
Als17 58 12 76
Amyotrophic Lateral Sclerosis, Chmp2b-Related 58 74
Amyotrophic Lateral Sclerosis Type 17 12 15
Chmp2b-Related Amyotrophic Lateral Sclerosis 12
Amyotrophic Lateral Sclerosis Chmp2b-Related 76
Sclerosis, Lateral, Amyotrophic, Type 17 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in adulthood
rapidly progressive
five unrelated patients have been reported (last curated july 2012)


HPO:

33
amyotrophic lateral sclerosis 17:
Onset and clinical course adult onset rapidly progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Amyotrophic Lateral Sclerosis 17

OMIM : 58 ALS17 is an adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency (summary by Cox et al., 2010). (614696)

MalaCards based summary : Amyotrophic Lateral Sclerosis 17, also known as als17, is related to frontotemporal dementia, chromosome 3-linked, and has symptoms including muscle weakness and muscular fasciculation. An important gene associated with Amyotrophic Lateral Sclerosis 17 is CHMP2B (Charged Multivesicular Body Protein 2B). Affiliated tissues include spinal cord and skeletal muscle, and related phenotypes are babinski sign and brisk reflexes

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the CHMP2B gene on chromosome 3.

UniProtKB/Swiss-Prot : 76 Amyotrophic lateral sclerosis 17: An adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency.

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 17

Human phenotypes related to Amyotrophic Lateral Sclerosis 17:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 babinski sign 33 occasional (7.5%) HP:0003487
2 brisk reflexes 33 occasional (7.5%) HP:0001348
3 frontotemporal dementia 33 occasional (7.5%) HP:0002145
4 dysarthria 33 HP:0001260
5 dysphagia 33 HP:0002015
6 respiratory insufficiency due to muscle weakness 33 HP:0002747
7 skeletal muscle atrophy 33 HP:0003202
8 bulbar signs 33 HP:0002483
9 amyotrophic lateral sclerosis 33 HP:0007354
10 areflexia 33 HP:0001284
11 fasciculations 33 HP:0002380
12 hyporeflexia 33 HP:0001265

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
muscle weakness
bulbar signs
areflexia
fasciculations
more
Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
muscle weakness
muscle atrophy

Respiratory:
respiratory insufficiency due to muscle weakness

Clinical features from OMIM:

614696

UMLS symptoms related to Amyotrophic Lateral Sclerosis 17:


muscle weakness, muscular fasciculation

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 17

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 17

Genetic Tests for Amyotrophic Lateral Sclerosis 17

Genetic tests related to Amyotrophic Lateral Sclerosis 17:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis 17 30 CHMP2B

Anatomical Context for Amyotrophic Lateral Sclerosis 17

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 17:

42
Spinal Cord, Skeletal Muscle

Publications for Amyotrophic Lateral Sclerosis 17

Articles related to Amyotrophic Lateral Sclerosis 17:

# Title Authors Year
1
Defective neuronal and oligodendroglial differentiation by FTD3- and ALS17-associated Ile29-to-Val mutation of CHMP2B. ( 30766798 )
2019

Variations for Amyotrophic Lateral Sclerosis 17

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 17:

76
# Symbol AA change Variation ID SNP ID
1 CHMP2B p.Ile29Val VAR_038373 rs63750818
2 CHMP2B p.Gln206His VAR_038374 rs63751126
3 CHMP2B p.Thr104Asn VAR_068689 rs281864934

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 17:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHMP2B NM_014043.3(CHMP2B): c.618A> C (p.Gln206His) single nucleotide variant Pathogenic rs63751126 GRCh37 Chromosome 3, 87302948: 87302948
2 CHMP2B NM_014043.3(CHMP2B): c.618A> C (p.Gln206His) single nucleotide variant Pathogenic rs63751126 GRCh38 Chromosome 3, 87253798: 87253798
3 CHMP2B NM_014043.3(CHMP2B): c.85A> G (p.Ile29Val) single nucleotide variant Uncertain significance rs63750818 GRCh37 Chromosome 3, 87289899: 87289899
4 CHMP2B NM_014043.3(CHMP2B): c.85A> G (p.Ile29Val) single nucleotide variant Uncertain significance rs63750818 GRCh38 Chromosome 3, 87240749: 87240749
5 CHMP2B NM_014043.3(CHMP2B): c.311C> A (p.Thr104Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs281864934 GRCh37 Chromosome 3, 87295048: 87295048
6 CHMP2B NM_014043.3(CHMP2B): c.311C> A (p.Thr104Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs281864934 GRCh38 Chromosome 3, 87245898: 87245898
7 CHMP2B NM_014043.3(CHMP2B): c.560G> A (p.Ser187Asn) single nucleotide variant Benign/Likely benign rs78268395 GRCh38 Chromosome 3, 87253740: 87253740
8 CHMP2B NM_014043.3(CHMP2B): c.560G> A (p.Ser187Asn) single nucleotide variant Benign/Likely benign rs78268395 GRCh37 Chromosome 3, 87302890: 87302890
9 CHMP2B NM_014043.3(CHMP2B): c.34+8C> T single nucleotide variant Benign/Likely benign rs35413339 GRCh38 Chromosome 3, 87227564: 87227564
10 CHMP2B NM_014043.3(CHMP2B): c.34+8C> T single nucleotide variant Benign/Likely benign rs35413339 GRCh37 Chromosome 3, 87276714: 87276714
11 CHMP2B NM_014043.3(CHMP2B): c.581C> T (p.Ser194Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 87302911: 87302911
12 CHMP2B NM_014043.3(CHMP2B): c.581C> T (p.Ser194Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 87253761: 87253761

Expression for Amyotrophic Lateral Sclerosis 17

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 17.

Pathways for Amyotrophic Lateral Sclerosis 17

GO Terms for Amyotrophic Lateral Sclerosis 17

Sources for Amyotrophic Lateral Sclerosis 17

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
Content
Loading form....