MCID: PRM195
MIFTS: 29

Primary Lateral Sclerosis, Juvenile

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Primary Lateral Sclerosis, Juvenile

MalaCards integrated aliases for Primary Lateral Sclerosis, Juvenile:

Name: Primary Lateral Sclerosis, Juvenile 54 50 25 13
Juvenile Primary Lateral Sclerosis 72 50 24 25 56 71 29
Jpls 72 50 24 25 56 71
Juvenile Pls 25 56
Primary Lateral Sclerosis Juvenile 69
Pls Juvenile 50
Plsj 25

Characteristics:

Orphanet epidemiological data:

56
juvenile primary lateral sclerosis
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
slowly progressive
allelic disorder to infantile-onset ascending spastic paralysis (iahsp, )
allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, )


HPO:

32
primary lateral sclerosis, juvenile:
Onset and clinical course childhood onset slow progression juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 606353
Orphanet 56 ORPHA247604
MESH via Orphanet 43 C536416
UMLS via Orphanet 70 C1853396
ICD10 via Orphanet 34 G12.2
MedGen 40 C1853396
MeSH 42 D016472

Summaries for Primary Lateral Sclerosis, Juvenile

OMIM : 54
Although primary lateral sclerosis 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 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. A diagnosis of PLS is essentially one of exclusion (Sotaniemi and Myllyla, 1985; Younger et al., 1988; Yang et al., 2001). (606353)

MalaCards based summary : Primary Lateral Sclerosis, Juvenile, also known as juvenile primary lateral sclerosis, is related to brain cancer and lateral sclerosis, and has symptoms including dysphagia, hyperreflexia and muscle weakness. An important gene associated with Primary Lateral Sclerosis, Juvenile is ALS2 (ALS2, Alsin Rho Guanine Nucleotide Exchange Factor). Affiliated tissues include brain, spinal cord and skeletal muscle.

Genetics Home Reference : 25 Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement.

NIH Rare Diseases : 50 juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. this disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. symptoms begin in early childhood and progress over a period of 15 to 20 years. juvenile primary lateral sclerosis is caused by mutations in the als2 gene. it is inherited in an autosomal recessive pattern. last updated: 3/4/2011

UniProtKB/Swiss-Prot : 71 Juvenile primary lateral sclerosis: A neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons while the lower neurons are unaffected.

Related Diseases for Primary Lateral Sclerosis, Juvenile

Diseases in the Lateral Sclerosis family:

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

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

id Related Disease Score Top Affiliating Genes
1 brain cancer 9.9
2 lateral sclerosis 9.7
3 spastic paralysis, infantile onset ascending 9.5 ALS2 ERLIN2

Symptoms & Phenotypes for Primary Lateral Sclerosis, Juvenile

Symptoms via clinical synopsis from OMIM:

54

Abdomen- Gastroin testinal:
dysphagia

Head And Neck- Face:
spasticity of the facial muscles

Neurologic- Peripheral Nervous System:
no sensory abnormalities

Neurologic- Central Nervous System:
hyperreflexia
extensor plantar responses
spastic gait
upper motor neuron signs
spastic tetraparesis
more
Head And Neck- Mouth:
difficulty in tongue movements

Head And Neck- Eyes:
saccadic smooth pursuit


Clinical features from OMIM:

606353

Human phenotypes related to Primary Lateral Sclerosis, Juvenile:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 56 32 frequent (33%) Frequent (79-30%) HP:0002015
2 hyperreflexia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001347
3 muscle weakness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001324
4 loss of speech 56 32 frequent (33%) Frequent (79-30%) HP:0002371
5 gait imbalance 56 32 hallmark (90%) Very frequent (99-80%) HP:0002141
6 spastic gait 56 32 hallmark (90%) Very frequent (99-80%) HP:0002064
7 sensory neuropathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000763
8 spastic tetraparesis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001285
9 spastic dysarthria 56 32 frequent (33%) Frequent (79-30%) HP:0002464
10 abnormal pyramidal signs 56 32 hallmark (90%) Very frequent (99-80%) HP:0007256
11 skeletal muscle atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0003202
12 abnormality of the bladder 56 32 occasional (7.5%) Occasional (29-5%) HP:0000014
13 abnormal upper motor neuron morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0002127
14 pseudobulbar behavioral symptoms 56 32 hallmark (90%) Very frequent (99-80%) HP:0002193
15 spasticity 56 Very frequent (99-80%)
16 cerebral cortical atrophy 32 HP:0002120
17 difficulty in tongue movements 32 HP:0000183
18 spasticity of pharyngeal muscles 32 HP:0002501
19 spasticity of facial muscles 32 HP:0002491
20 saccadic smooth pursuit 32 HP:0001152
21 babinski sign 32 HP:0003487

UMLS symptoms related to Primary Lateral Sclerosis, Juvenile:


upper motor neuron signs

Drugs & Therapeutics for Primary Lateral Sclerosis, Juvenile

Search Clinical Trials , NIH Clinical Center for Primary Lateral Sclerosis, Juvenile

Genetic Tests for Primary Lateral Sclerosis, Juvenile

Genetic tests related to Primary Lateral Sclerosis, Juvenile:

id Genetic test Affiliating Genes
1 Juvenile Primary Lateral Sclerosis 29 24

Anatomical Context for Primary Lateral Sclerosis, Juvenile

MalaCards organs/tissues related to Primary Lateral Sclerosis, Juvenile:

39
Brain, Spinal Cord, Skeletal Muscle, Tongue, Cortex

Publications for Primary Lateral Sclerosis, Juvenile

Variations for Primary Lateral Sclerosis, Juvenile

ClinVar genetic disease variations for Primary Lateral Sclerosis, Juvenile:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ALS2 NM_020919.3(ALS2): c.1867_1868delCT (p.Leu623Valfs) deletion Pathogenic rs386134181 GRCh37 Chromosome 2, 202611419: 202611420
2 ALS2 NM_020919.3(ALS2): c.1425_1426delAG (p.Glu476Glyfs) deletion Pathogenic rs386134176 GRCh37 Chromosome 2, 202622170: 202622171
3 ALS2 NM_020919.3(ALS2): c.2980-2A> G single nucleotide variant Pathogenic rs386134184 GRCh37 Chromosome 2, 202591591: 202591591
4 ALS2 NM_020919.3(ALS2): c.1619G> A (p.Gly540Glu) single nucleotide variant Pathogenic rs386134178 GRCh37 Chromosome 2, 202619247: 202619247

Expression for Primary Lateral Sclerosis, Juvenile

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

Pathways for Primary Lateral Sclerosis, Juvenile

GO Terms for Primary Lateral Sclerosis, Juvenile

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

id Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 8.62 ALS2 ERLIN2

Sources for Primary Lateral Sclerosis, Juvenile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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