MCID: AMY055
MIFTS: 24

Amyotrophic Lateral Sclerosis 17

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 17

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 17:

Name: Amyotrophic Lateral Sclerosis 17 57 12 75 29 13 6
Als17 57 12 75
Amyotrophic Lateral Sclerosis, Chmp2b-Related 57 73
Chmp2b-Related Amyotrophic Lateral Sclerosis 12
Amyotrophic Lateral Sclerosis Chmp2b-Related 75
Sclerosis, Lateral, Amyotrophic, Type 17 40
Amyotrophic Lateral Sclerosis Type 17 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
amyotrophic lateral sclerosis 17:
Onset and clinical course adult onset rapidly progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Amyotrophic Lateral Sclerosis 17

OMIM : 57 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, is also known as als17, and has symptoms including muscular fasciculation and muscle weakness. An important gene associated with Amyotrophic Lateral Sclerosis 17 is CHMP2B (Charged Multivesicular Body Protein 2B). Affiliated tissues include skeletal muscle and spinal cord, and related phenotypes are dysarthria and hyporeflexia

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

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
muscle weakness
areflexia
fasciculations
hyporeflexia
more
Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
muscle weakness
muscle atrophy

Respiratory:
respiratory insufficiency due to muscle weakness


Clinical features from OMIM:

614696

Human phenotypes related to Amyotrophic Lateral Sclerosis 17:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 hyporeflexia 32 HP:0001265
3 areflexia 32 HP:0001284
4 brisk reflexes 32 occasional (7.5%) HP:0001348
5 dysphagia 32 HP:0002015
6 frontotemporal dementia 32 occasional (7.5%) HP:0002145
7 fasciculations 32 HP:0002380
8 bulbar signs 32 HP:0002483
9 respiratory insufficiency due to muscle weakness 32 HP:0002747
10 skeletal muscle atrophy 32 HP:0003202
11 babinski sign 32 occasional (7.5%) HP:0003487
12 amyotrophic lateral sclerosis 32 HP:0007354

UMLS symptoms related to Amyotrophic Lateral Sclerosis 17:


muscular fasciculation, muscle weakness

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 29 CHMP2B

Anatomical Context for Amyotrophic Lateral Sclerosis 17

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 17:

41
Skeletal Muscle, Spinal Cord

Publications for Amyotrophic Lateral Sclerosis 17

Variations for Amyotrophic Lateral Sclerosis 17

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

75
# 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
# 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.560G> A (p.Ser187Asn) single nucleotide variant Benign/Likely benign rs78268395 GRCh38 Chromosome 3, 87253740: 87253740
4 CHMP2B NM_014043.3(CHMP2B): c.560G> A (p.Ser187Asn) single nucleotide variant Benign/Likely benign rs78268395 GRCh37 Chromosome 3, 87302890: 87302890
5 CHMP2B NM_014043.3(CHMP2B): c.34+8C> T single nucleotide variant Benign/Likely benign rs35413339 GRCh38 Chromosome 3, 87227564: 87227564
6 CHMP2B NM_014043.3(CHMP2B): c.34+8C> T single nucleotide variant Benign/Likely benign rs35413339 GRCh37 Chromosome 3, 87276714: 87276714

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 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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