ALS15
MCID: AMY104
MIFTS: 25

Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia (ALS15)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal...

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia:

Name: Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia 56
Amyotrophic Lateral Sclerosis 15, with or Without Frontotemporal Dementia 56 73 29 13 6 71
Als15 56 73
Sclerosis, Lateral, Amyotrophic, Type 15, with or Without Frontotemporal Dementia 39

Characteristics:

OMIM:

56
Miscellaneous:
progressive disorder
onset in males in first to third decade
onset in females ranges from third to seventh decade
motor symptoms are variable
incomplete penetrance in females

Inheritance:
x-linked dominant


HPO:

31
amyotrophic lateral sclerosis 15 with or without frontotemporal dementia:
Onset and clinical course progressive adult onset
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 56 300857
OMIM Phenotypic Series 56 PS105400
MeSH 43 D000690
MedGen 41 C3275459
UMLS 71 C3275459

Summaries for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal...

UniProtKB/Swiss-Prot : 73 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia: 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. Patients with ALS15 may develop frontotemporal dementia.

MalaCards based summary : Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia, also known as amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, is related to amyotrophic lateral sclerosis type 15 and juvenile amyotrophic lateral sclerosis, and has symptoms including dystonia and athetosis. An important gene associated with Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia is UBQLN2 (Ubiquilin 2). Affiliated tissues include brain, spinal cord and cortex, and related phenotypes are amyotrophic lateral sclerosis and dysarthria

More information from OMIM: 300857 PS105400

Related Diseases for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal...

Diseases in the Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia family:

Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia
Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia

Diseases related to Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis type 15 12.0
2 juvenile amyotrophic lateral sclerosis 11.3

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal...

Human phenotypes related to Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 amyotrophic lateral sclerosis 31 obligate (100%) HP:0007354
2 dysarthria 31 HP:0001260
3 dysphagia 31 HP:0002015
4 dystonia 31 HP:0001332
5 paralysis 31 HP:0003470
6 athetosis 31 HP:0002305
7 gliosis 31 HP:0002171
8 frontotemporal dementia 31 HP:0002145
9 axonal loss 31 HP:0003447

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dysarthria
amyotrophic lateral sclerosis
frontotemporal dementia
spastic paralysis
abnormal involuntary movements
more
Abdomen Gastrointestinal:
dysphagia

Clinical features from OMIM:

300857

UMLS symptoms related to Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia:


dystonia, athetosis

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal...

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia

Genetic Tests for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal...

Genetic tests related to Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis 15, with or Without Frontotemporal Dementia 29 UBQLN2

Anatomical Context for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal...

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia:

40
Brain, Spinal Cord, Cortex

Publications for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal...

Articles related to Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia:

# Title Authors PMID Year
1
UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration. 56 6
24771548 2014
2
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. 56 6
21857683 2011
3
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 6
21914052 2012
4
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001

Variations for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal...

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UBQLN2 NM_013444.3(UBQLN2):c.1490C>T (p.Pro497Leu)SNV Pathogenic 157594 rs387906709 X:56591796-56591796 X:56565363-56565363
2 UBQLN2 NM_013444.3(UBQLN2):c.1490C>A (p.Pro497His)SNV Pathogenic 29950 rs387906709 X:56591796-56591796 X:56565363-56565363
3 UBQLN2 NM_013444.3(UBQLN2):c.1489C>T (p.Pro497Ser)SNV Pathogenic 29951 rs387906710 X:56591795-56591795 X:56565362-56565362
4 UBQLN2 NM_013444.3(UBQLN2):c.1516C>A (p.Pro506Thr)SNV Pathogenic 29952 rs387906711 X:56591822-56591822 X:56565389-56565389
5 UBQLN2 NM_013444.3(UBQLN2):c.1573C>T (p.Pro525Ser)SNV Conflicting interpretations of pathogenicity 29954 rs369947678 X:56591879-56591879 X:56565446-56565446
6 UBQLN2 NM_013444.3(UBQLN2):c.968C>T (p.Pro323Leu)SNV Uncertain significance 539318 rs1555977386 X:56591274-56591274 X:56564841-56564841
7 UBQLN2 NM_013444.3(UBQLN2):c.1574C>T (p.Pro525Leu)SNV Uncertain significance 640437 X:56591880-56591880 X:56565447-56565447
8 UBQLN2 NM_013444.3(UBQLN2):c.1525C>T (p.Pro509Ser)SNV Uncertain significance 29953 rs387906712 X:56591831-56591831 X:56565398-56565398

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia:

73
# Symbol AA change Variation ID SNP ID
1 UBQLN2 p.Pro497His VAR_066562 rs387906709
2 UBQLN2 p.Pro497Ser VAR_066563 rs387906710
3 UBQLN2 p.Pro506Thr VAR_066564 rs387906711
4 UBQLN2 p.Pro509Ser VAR_066565 rs387906712
5 UBQLN2 p.Pro525Ser VAR_066566 rs369947678
6 UBQLN2 p.Ala283Thr VAR_068895 rs749463696
7 UBQLN2 p.Gln425Arg VAR_068896 rs124372647
8 UBQLN2 p.Thr487Ile VAR_068897

Expression for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal...

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia.

Pathways for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal...

GO Terms for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal...

Sources for Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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