PLS
MCID: PRM092
MIFTS: 47

Primary Lateral Sclerosis, Adult, 1 (PLS)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Primary Lateral Sclerosis, Adult, 1

MalaCards integrated aliases for Primary Lateral Sclerosis, Adult, 1:

Name: Primary Lateral Sclerosis, Adult, 1 57 13 73
Adult-Onset Primary Lateral Sclerosis 59
Primary Lateral Sclerosis 59
Lateral Sclerosis 73
Pls, Adult; Plsa 57
Adult-Onset Pls 59
Pls, Adult 57
Plsa1 57
Plsa 57
Pls 59

Characteristics:

Orphanet epidemiological data:

59
primary lateral sclerosis
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
average age at onset between 40 and 50 years


HPO:

32
primary lateral sclerosis, adult, 1:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 611637
Orphanet 59 ORPHA35689
UMLS via Orphanet 74 C1968845 C0154682
ICD10 via Orphanet 34 G12.2
MedGen 42 C1968845

Summaries for Primary Lateral Sclerosis, Adult, 1

NINDS : 54 Primary lateral sclerosis (PLS) is a rare neuromuscular disease with slowly progressive weakness in voluntary muscle movement. PLS belongs to a group of disorders known as motor neuron diseases. PLS affects the upper motor neurons (also called corticospinal neurons) in the arms, legs, and face.  It occurs when nerve cells in the motor regions of the cerebral cortex (the thin layer of cells covering the brain which is responsible for most higher level mental functions) gradually degenerate, causing movements to be slow and effortful.  The disorder often affects the legs first, followed by the body, trunk, arms and hands, and, finally the bulbar muscles (muscles that control speech, swallowing, and chewing).  Symptoms include weakness, muscle stiffness and spasticity, clumsiness, slowing of movement, and problems with balance and speech. PLS is more common in men than in women, with a varied gradual onset that generally occurs between ages 40 and 60. PLS progresses gradually over a number of years, or even decades. Scientists do not believe PLS has a simple hereditary cause.  The diagnosis of PLS requires extensive testing to exclude other diseases. When symptoms begin, PLS may be mistaken for amyotrophic lateral sclerosis (ALS) or spastic paraplegia.  Most neurologists follow an affected individual's clinical course for at least 3 to 4 years before making a diagnosis of PLS.

MalaCards based summary : Primary Lateral Sclerosis, Adult, 1, also known as adult-onset primary lateral sclerosis, is related to spasticity and hereditary spastic paraplegia, and has symptoms including upper motor neuron signs An important gene associated with Primary Lateral Sclerosis, Adult, 1 is SPG7 (SPG7, Paraplegin Matrix AAA Peptidase Subunit), and among its related pathways/superpathways are Neuroscience and Copper homeostasis. Affiliated tissues include brain, testes and cortex, and related phenotypes are hyperreflexia and dysphagia

OMIM : 57 Although primary lateral sclerosis (PLS) is similar to amyotrophic lateral sclerosis (ALS; 105400), they are considered to be clinically distinct progressive paralytic neurodegenerative disorders. Following a period of diagnostic confusion, the clinical distinction between ALS and PLS became clear and diagnostic criteria were established (Pringle et al., 1992). PLS is characterized by degeneration of the upper motor neurons and the corticospinal and corticobulbar tracts, whereas ALS is a more severe disorder characterized by degeneration of both the upper and lower motor neurons. See 606353 for autosomal recessive juvenile-onset PLS, which is caused by mutations in the ALS2 gene (606352). (611637)

Wikipedia : 76 Primary lateral sclerosis (PLS) is a rare neuromuscular disease characterized by progressive muscle... more...

Related Diseases for Primary Lateral Sclerosis, Adult, 1

Diseases in the Lateral Sclerosis family:

Primary Lateral Sclerosis, Juvenile Primary Lateral Sclerosis, Adult, 1

Diseases related to Primary Lateral Sclerosis, Adult, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 spasticity 30.2 SPAST SPG7
2 hereditary spastic paraplegia 30.0 ALS2 SPAST SPG7
3 spastic paraparesis 30.0 SPAST SPG7
4 supranuclear palsy, progressive, 1 29.8 MAPT SNCA
5 aphasia 29.4 MAPT SNCA
6 amyotrophic lateral sclerosis 1 29.4 ALS2 ARHGEF2 MAPT SNCA SOD1 SPAST
7 frontotemporal dementia 29.3 MAPT SNCA SOD1
8 motor neuron disease 28.7 ALS2 ARHGEF2 MAPT SNCA SOD1
9 papillon-lefevre syndrome 12.1
10 platelet groups--pl system 12.1
11 lateral sclerosis 12.0
12 primary lateral sclerosis, juvenile 11.9
13 pityriasis lichenoides 11.4
14 pleomorphic liposarcoma 11.3
15 pancreatic lipase deficiency 11.2
16 haim-munk syndrome 11.2
17 juvenile spinal muscular atrophy 11.1
18 progressive muscular atrophy 11.1
19 proximal spinal muscular atrophy 11.1
20 potocki-lupski syndrome 11.0
21 xanthomatosis 11.0
22 enthesopathy 11.0
23 skin tag 11.0
24 proteus-like syndrome 11.0
25 myocardial infarction 10.3
26 polydactyly 10.2
27 spastic paraplegia 4, autosomal dominant 10.1 SPAST SPG7
28 paraplegia 10.1
29 leukemia 10.1
30 allergic encephalomyelitis 10.1
31 amyotrophic lateral sclerosis 16, juvenile 10.1 ALS2 SOD1
32 amyotrophic lateral sclerosis 2, juvenile 10.1 ALS2 SOD1
33 brown-vialetto-van laere syndrome 10.1 ALS2 SOD1
34 acute myocardial infarction 10.0
35 lymphogranuloma venereum 10.0
36 cardiogenic shock 10.0
37 cutis laxa, autosomal dominant 1 10.0 SNCA SOD1
38 arteries, anomalies of 9.9
39 prostate cancer 9.9
40 acute leukemia 9.9
41 coronary artery anomaly 9.9
42 ornithosis 9.9
43 heart cancer 9.9
44 dementia 9.9
45 parkinson disease 3, autosomal dominant 9.9 MAPT SNCA
46 postencephalitic parkinson disease 9.9 MAPT SNCA
47 neuronal intranuclear inclusion disease 9.9 MAPT SNCA
48 intermittent claudication 9.9
49 mills syndrome 9.9
50 multiple system atrophy 1 9.9 MAPT SNCA

Comorbidity relations with Primary Lateral Sclerosis, Adult, 1 via Phenotypic Disease Network (PDN):


Acute Cystitis Intermittent Claudication

Graphical network of the top 20 diseases related to Primary Lateral Sclerosis, Adult, 1:



Diseases related to Primary Lateral Sclerosis, Adult, 1

Symptoms & Phenotypes for Primary Lateral Sclerosis, Adult, 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
spastic gait
spastic tetraparesis
spastic dysarthria
extensor plantar responses
more
Neurologic Peripheral Nervous System:
no sensory abnormalities

Abdomen Gastrointestinal:
dysphagia


Clinical features from OMIM:

611637

Human phenotypes related to Primary Lateral Sclerosis, Adult, 1:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 32 HP:0001347
2 dysphagia 32 HP:0002015
3 babinski sign 32 HP:0003487
4 spastic gait 32 HP:0002064
5 spastic tetraparesis 32 HP:0001285
6 spastic dysarthria 32 HP:0002464
7 abnormal upper motor neuron morphology 32 HP:0002127

UMLS symptoms related to Primary Lateral Sclerosis, Adult, 1:


upper motor neuron signs

MGI Mouse Phenotypes related to Primary Lateral Sclerosis, Adult, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.43 ALS2 MAPT SNCA SOD1 SPAST SPG7
2 nervous system MP:0003631 9.17 ALS2 ARHGEF2 MAPT SNCA SOD1 SPAST

Drugs & Therapeutics for Primary Lateral Sclerosis, Adult, 1

Search Clinical Trials , NIH Clinical Center for Primary Lateral Sclerosis, Adult, 1

Genetic Tests for Primary Lateral Sclerosis, Adult, 1

Anatomical Context for Primary Lateral Sclerosis, Adult, 1

MalaCards organs/tissues related to Primary Lateral Sclerosis, Adult, 1:

41
Brain, Testes, Cortex, Bone, Lung, Heart, Spinal Cord

Publications for Primary Lateral Sclerosis, Adult, 1

Articles related to Primary Lateral Sclerosis, Adult, 1:

# Title Authors Year
1
Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis. ( 27123479 )
2016
2
Adult-onset primary lateral sclerosis is not associated with mutations in the ALS2 gene. ( 17698795 )
2007

Variations for Primary Lateral Sclerosis, Adult, 1

Expression for Primary Lateral Sclerosis, Adult, 1

Search GEO for disease gene expression data for Primary Lateral Sclerosis, Adult, 1.

Pathways for Primary Lateral Sclerosis, Adult, 1

Pathways related to Primary Lateral Sclerosis, Adult, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.87 MAPT SNCA SOD1
2 10.69 MAPT SOD1
3 10.09 ARHGEF2 MAPT

GO Terms for Primary Lateral Sclerosis, Adult, 1

Cellular components related to Primary Lateral Sclerosis, Adult, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.54 ALS2 MAPT SOD1
2 axon GO:0030424 9.5 ALS2 MAPT SNCA
3 microtubule GO:0005874 9.43 ARHGEF2 MAPT SPAST
4 mitochondrial intermembrane space GO:0005758 9.4 SNCA SOD1
5 neuronal cell body GO:0043025 9.35 ALS2 ARHGEF2 MAPT SNCA SOD1
6 growth cone GO:0030426 9.33 ALS2 MAPT SNCA
7 axon cytoplasm GO:1904115 8.92 MAPT SOD1 SPAST SPG7

Biological processes related to Primary Lateral Sclerosis, Adult, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.65 ARHGEF2 SNCA SOD1
2 positive regulation of protein serine/threonine kinase activity GO:0071902 9.46 ALS2 SNCA
3 synapse organization GO:0050808 9.43 MAPT SNCA
4 cytoplasmic microtubule organization GO:0031122 9.4 MAPT SPAST
5 positive regulation of neuron death GO:1901216 9.37 MAPT SNCA
6 microglial cell activation GO:0001774 9.32 MAPT SNCA
7 positive regulation of superoxide anion generation GO:0032930 9.26 MAPT SOD1
8 supramolecular fiber organization GO:0097435 9.16 MAPT SNCA
9 axonal transport of mitochondrion GO:0019896 8.96 MAPT SPAST
10 anterograde axonal transport GO:0008089 8.8 SOD1 SPAST SPG7

Molecular functions related to Primary Lateral Sclerosis, Adult, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.62 ARHGEF2 SNCA SOD1 SPG7
2 enzyme binding GO:0019899 9.61 MAPT SNCA SOD1
3 Rho guanyl-nucleotide exchange factor activity GO:0005089 9.46 ALS2 ARHGEF2
4 copper ion binding GO:0005507 9.4 SNCA SOD1
5 Rac GTPase binding GO:0048365 9.37 ARHGEF2 SOD1
6 beta-tubulin binding GO:0048487 9.26 SNCA SPAST
7 alpha-tubulin binding GO:0043014 9.16 SNCA SPAST
8 Rac guanyl-nucleotide exchange factor activity GO:0030676 8.96 ALS2 ARHGEF2
9 microtubule binding GO:0008017 8.92 ARHGEF2 MAPT SNCA SPAST

Sources for Primary Lateral Sclerosis, Adult, 1

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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