MCID: AMY104
MIFTS: 22

Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia

Categories: Genetic diseases, Mental 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 57
Amyotrophic Lateral Sclerosis 15, with or Without Frontotemporal Dementia 57 75 29 13 6 73
Als15 57 75
Sclerosis, Lateral, Amyotrophic, Type 15, with or Without Frontotemporal Dementia 40

Characteristics:

OMIM:

57
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:

32
amyotrophic lateral sclerosis 15 with or without frontotemporal dementia:
Onset and clinical course adult onset progressive
Inheritance x-linked dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 athetosis and dystonia. 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 dysarthria and dystonia

Description from OMIM: 300857

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

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 11.7
2 juvenile amyotrophic lateral sclerosis 10.9

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
amyotrophic lateral sclerosis
frontotemporal dementia
abnormal involuntary movements
athetoid movements
more
Abdomen Gastrointestinal:
dysphagia


Clinical features from OMIM:

300857

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 dystonia 32 HP:0001332
3 dysphagia 32 HP:0002015
4 frontotemporal dementia 32 HP:0002145
5 athetosis 32 HP:0002305
6 amyotrophic lateral sclerosis 32 obligate (100%) HP:0007354

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


athetosis, dystonia

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:

41
Brain, Spinal Cord, Cortex

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

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

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

75
# 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
8 UBQLN2 p.Thr487Ile VAR_068897

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

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 UBQLN2 NM_013444.3(UBQLN2): c.1490C> A (p.Pro497His) single nucleotide variant Pathogenic rs387906709 GRCh37 Chromosome X, 56591796: 56591796
2 UBQLN2 NM_013444.3(UBQLN2): c.1490C> A (p.Pro497His) single nucleotide variant Pathogenic rs387906709 GRCh38 Chromosome X, 56565363: 56565363
3 UBQLN2 NM_013444.3(UBQLN2): c.1489C> T (p.Pro497Ser) single nucleotide variant Pathogenic rs387906710 GRCh37 Chromosome X, 56591795: 56591795
4 UBQLN2 NM_013444.3(UBQLN2): c.1489C> T (p.Pro497Ser) single nucleotide variant Pathogenic rs387906710 GRCh38 Chromosome X, 56565362: 56565362
5 UBQLN2 NM_013444.3(UBQLN2): c.1516C> A (p.Pro506Thr) single nucleotide variant Pathogenic rs387906711 GRCh37 Chromosome X, 56591822: 56591822
6 UBQLN2 NM_013444.3(UBQLN2): c.1516C> A (p.Pro506Thr) single nucleotide variant Pathogenic rs387906711 GRCh38 Chromosome X, 56565389: 56565389
7 UBQLN2 NM_013444.3(UBQLN2): c.1525C> T (p.Pro509Ser) single nucleotide variant Pathogenic rs387906712 GRCh37 Chromosome X, 56591831: 56591831
8 UBQLN2 NM_013444.3(UBQLN2): c.1525C> T (p.Pro509Ser) single nucleotide variant Pathogenic rs387906712 GRCh38 Chromosome X, 56565398: 56565398
9 UBQLN2 NM_013444.3(UBQLN2): c.1573C> T (p.Pro525Ser) single nucleotide variant Pathogenic rs369947678 GRCh37 Chromosome X, 56591879: 56591879
10 UBQLN2 NM_013444.3(UBQLN2): c.1573C> T (p.Pro525Ser) single nucleotide variant Pathogenic rs369947678 GRCh38 Chromosome X, 56565446: 56565446
11 UBQLN2 NM_013444.3(UBQLN2): c.1490C> T (p.Pro497Leu) single nucleotide variant Pathogenic rs387906709 GRCh38 Chromosome X, 56565363: 56565363
12 UBQLN2 NM_013444.3(UBQLN2): c.1490C> T (p.Pro497Leu) single nucleotide variant Pathogenic rs387906709 GRCh37 Chromosome X, 56591796: 56591796
13 UBQLN2 NM_013444.3(UBQLN2): c.1461C> A (p.Thr487=) single nucleotide variant Benign/Likely benign rs45559331 GRCh38 Chromosome X, 56565334: 56565334
14 UBQLN2 NM_013444.3(UBQLN2): c.1461C> A (p.Thr487=) single nucleotide variant Benign/Likely benign rs45559331 GRCh37 Chromosome X, 56591767: 56591767
15 UBQLN2 NM_013444.3(UBQLN2): c.1383G> A (p.Gly461=) single nucleotide variant Benign/Likely benign rs142250604 GRCh38 Chromosome X, 56565256: 56565256
16 UBQLN2 NM_013444.3(UBQLN2): c.1383G> A (p.Gly461=) single nucleotide variant Benign/Likely benign rs142250604 GRCh37 Chromosome X, 56591689: 56591689
17 UBQLN2 NM_013444.3(UBQLN2): c.968C> T (p.Pro323Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 56591274: 56591274
18 UBQLN2 NM_013444.3(UBQLN2): c.968C> T (p.Pro323Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 56564841: 56564841

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...

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71 TGDB
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74 UMLS via Orphanet
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