MCID: PRM092
MIFTS: 27

Primary Lateral Sclerosis, Adult, 1

Categories: Neuronal diseases, Rare diseases, Genetic 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
UMLS 73 C1968845

Summaries for Primary Lateral Sclerosis, Adult, 1

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)

MalaCards based summary : Primary Lateral Sclerosis, Adult, 1, also known as adult-onset primary lateral sclerosis, is related to papillon-lefevre syndrome and platelet groups--pl system, 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). Affiliated tissues include spinal cord, and related phenotypes are spastic tetraparesis and hyperreflexia

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 68)
# Related Disease Score Top Affiliating Genes
1 papillon-lefevre syndrome 12.0
2 platelet groups--pl system 11.9
3 lateral sclerosis 11.8
4 primary lateral sclerosis, juvenile 11.7
5 pityriasis lichenoides 11.2
6 pleomorphic liposarcoma 11.2
7 pancreatic lipase deficiency 11.0
8 haim-munk syndrome 11.0
9 potocki-lupski syndrome 10.9
10 motor neuron disease 10.8
11 enthesopathy 10.8
12 skin tag 10.8
13 proteus-like syndrome 10.8
14 myocardial infarction 10.1
15 leukemia 10.0
16 acute myocardial infarction 9.9
17 lymphogranuloma venereum 9.9
18 allergic encephalomyelitis 9.9
19 cardiogenic shock 9.9
20 arteries, anomalies of 9.8
21 aging 9.8
22 myelodysplastic syndrome 9.8
23 acute leukemia 9.8
24 coronary artery anomaly 9.8
25 heart cancer 9.8
26 ischemia 9.8
27 leukemia, chronic lymphocytic 2 9.7
28 cardiac conduction defect 9.7
29 leukemia, acute monocytic 9.7
30 leukemia, chronic lymphocytic 9.7
31 systemic lupus erythematosus 9.7
32 prostate cancer 9.7
33 small cell cancer of the lung 9.7
34 renal hypodysplasia/aplasia 1 9.7
35 lung cancer 9.7
36 polydactyly 9.7
37 coronary heart disease 1 9.7
38 bardet-biedl syndrome 2 9.7
39 bardet-biedl syndrome 10 9.7
40 bardet-biedl syndrome 11 9.7
41 bardet-biedl syndrome 12 9.7
42 alcohol abuse 9.7
43 aortic atherosclerosis 9.7
44 diabetes mellitus 9.7
45 paroxysmal nocturnal hemoglobinuria 9.7
46 lissencephaly 9.7
47 prolymphocytic leukemia 9.7
48 microcephaly 9.7
49 chlamydia 9.7
50 heart disease 9.7

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 spastic tetraparesis 32 HP:0001285
2 hyperreflexia 32 HP:0001347
3 dysphagia 32 HP:0002015
4 spastic gait 32 HP:0002064
5 abnormal upper motor neuron morphology 32 HP:0002127
6 spastic dysarthria 32 HP:0002464
7 babinski sign 32 HP:0003487

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


upper motor neuron signs

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
Spinal Cord

Publications for Primary Lateral Sclerosis, Adult, 1

Articles related to Primary Lateral Sclerosis, Adult, 1:

# Title Authors Year
1
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

GO Terms for Primary Lateral Sclerosis, Adult, 1

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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