MCID: INF041
MIFTS: 29

Infantile-Onset Ascending Hereditary Spastic Paralysis

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Infantile-Onset Ascending Hereditary Spastic Paralysis

MalaCards integrated aliases for Infantile-Onset Ascending Hereditary Spastic Paralysis:

Name: Infantile-Onset Ascending Hereditary Spastic Paralysis 49 24 28
Iahsp 49 24
Infantile-Onset Ascending Hereditary Spastic Paraplegia 24
Hereditary Spastic Paralysis, Infantile Onset Ascending 69
Spastic Paralysis, Infantile Onset Ascending 49
Infantile Onset Ascending Spastic Paralysis 24

Classifications:



Summaries for Infantile-Onset Ascending Hereditary Spastic Paralysis

Genetics Home Reference : 24 Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia). The spasticity and paraplegia result from degeneration (atrophy) of motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Hereditary spastic paraplegias are divided into two types: pure and complicated. The pure types involve only the lower limbs, while the complicated types involve additional areas of the nervous system, affecting the upper limbs and other areas of the body. Infantile-onset ascending hereditary spastic paralysis starts as a pure hereditary spastic paraplegia, with spasticity and weakness in the legs only, but as the disorder progresses, the muscles in the arms, neck, and head become involved and features of the disorder are more characteristic of the complicated type.

MalaCards based summary : Infantile-Onset Ascending Hereditary Spastic Paralysis, also known as iahsp, is related to spastic paralysis, infantile-onset ascending and spasticity, and has symptoms including abnormality of eye movement, spastic paraplegia and dysarthria. An important gene associated with Infantile-Onset Ascending Hereditary Spastic Paralysis is ALS2 (ALS2, Alsin Rho Guanine Nucleotide Exchange Factor). The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and eye.

NIH Rare Diseases : 49 Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a neurological disorder characterized by progressive (worsening) weakness and stiffness of muscles in the arms, legs, and face. Initial symptoms usually occur within the first 2 years of life and include weakness of the legs, leg muscles that are abnormally tight and stiff, and eventual paralysis of the legs. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head. IAHSP is caused by mutations in the ALS2 gene and is inherited in an autosomal recessive pattern. Although there is no specific treatment or cure, there may be ways to manage the symptoms, including physical and occupational therapy. A team of doctors is often needed to figure out the treatment options for each person. Last updated: 12/8/2016

Related Diseases for Infantile-Onset Ascending Hereditary Spastic Paralysis

Diseases in the Spastic Paralysis, Infantile-Onset Ascending family:

Infantile-Onset Ascending Hereditary Spastic Paralysis

Diseases related to Infantile-Onset Ascending Hereditary Spastic Paralysis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paralysis, infantile-onset ascending 11.8
2 spasticity 10.4
3 hereditary spastic paraplegia 10.3
4 paraplegia 10.3
5 amyotrophic lateral sclerosis 2, juvenile 10.2

Graphical network of the top 20 diseases related to Infantile-Onset Ascending Hereditary Spastic Paralysis:



Diseases related to Infantile-Onset Ascending Hereditary Spastic Paralysis

Symptoms & Phenotypes for Infantile-Onset Ascending Hereditary Spastic Paralysis

Human phenotypes related to Infantile-Onset Ascending Hereditary Spastic Paralysis:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 abnormality of eye movement 31 frequent (33%) HP:0000496
2 spastic paraplegia 31 hallmark (90%) HP:0001258
3 dysarthria 31 hallmark (90%) HP:0001260
4 hyperreflexia 31 hallmark (90%) HP:0001347
5 pseudobulbar behavioral symptoms 31 frequent (33%) HP:0002193
6 anarthria 31 hallmark (90%) HP:0002425
7 tetraplegia 31 hallmark (90%) HP:0002445
8 spastic tetraplegia 31 hallmark (90%) HP:0002510
9 chewing difficulties 31 hallmark (90%) HP:0005216
10 abnormal pyramidal signs 31 hallmark (90%) HP:0007256

UMLS symptoms related to Infantile-Onset Ascending Hereditary Spastic Paralysis:


muscle weakness, facial paresis

Drugs & Therapeutics for Infantile-Onset Ascending Hereditary Spastic Paralysis

Drugs for Infantile-Onset Ascending Hereditary Spastic Paralysis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 2, Phase 3 51-84-3 187
2 Cholinergic Agents Phase 2, Phase 3
3 Neurotransmitter Agents Phase 2, Phase 3
4 Botulinum Toxins Phase 2, Phase 3
5
Choline Approved, Nutraceutical 62-49-7 305
6
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
7 N-Methylaspartate
8 Aspartic Acid Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
2 Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
3 Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 Recruiting NCT02859428
4 The Pre-SPG4 Study Recruiting NCT03206190
5 Studying Cognition in SPG4 Recruiting NCT03104088
6 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
7 Genetic and Physical Study of Childhood Nerve and Muscle Disorders Recruiting NCT01568658
8 A Patient Centric Motor Neuron Disease Activities of Daily Living Scale Enrolling by invitation NCT02852278
9 Studying Non-motor Symptoms in SPG4 Not yet recruiting NCT03204773

Search NIH Clinical Center for Infantile-Onset Ascending Hereditary Spastic Paralysis

Genetic Tests for Infantile-Onset Ascending Hereditary Spastic Paralysis

Genetic tests related to Infantile-Onset Ascending Hereditary Spastic Paralysis:

# Genetic test Affiliating Genes
1 Infantile-Onset Ascending Hereditary Spastic Paralysis 28 ALS2

Anatomical Context for Infantile-Onset Ascending Hereditary Spastic Paralysis

MalaCards organs/tissues related to Infantile-Onset Ascending Hereditary Spastic Paralysis:

38
Spinal Cord, Brain, Eye

Publications for Infantile-Onset Ascending Hereditary Spastic Paralysis

Articles related to Infantile-Onset Ascending Hereditary Spastic Paralysis:

# Title Authors Year
1
A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis. ( 24704789 )
2014
2
Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review. ( 24144828 )
2014
3
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. ( 12145748 )
2002

Variations for Infantile-Onset Ascending Hereditary Spastic Paralysis

ClinVar genetic disease variations for Infantile-Onset Ascending Hereditary Spastic Paralysis:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALS2 NM_020919.3(ALS2): c.1999-2A> T single nucleotide variant Pathogenic rs386134182 GRCh37 Chromosome 2, 202609154: 202609154
2 ALS2 NM_020919.3(ALS2): c.2761C> T (p.Arg921Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587777132 GRCh37 Chromosome 2, 202593315: 202593315
3 ALS2 NM_020919.3(ALS2): c.3619delA (p.Met1207Terfs) deletion Pathogenic rs386134187 GRCh37 Chromosome 2, 202588058: 202588058
4 ALS2 NM_020919.3(ALS2): c.1472_1481delTTTCCCCCAG single nucleotide variant Pathogenic rs387906316 GRCh37 Chromosome 2, 202619395: 202619395
5 ALS2 NM_020919.3(ALS2): c.2537_2538delAT (p.Asn846Ilefs) deletion Pathogenic rs386134183 GRCh37 Chromosome 2, 202598041: 202598042
6 ALS2 NM_020919.3(ALS2): c.1007_1008delTA (p.Ile336Thrfs) deletion Pathogenic rs386134175 GRCh37 Chromosome 2, 202625709: 202625710
7 ALS2 NM_020919.3(ALS2): c.4721delT (p.Val1574Alafs) deletion Pathogenic rs386134188 GRCh37 Chromosome 2, 202569294: 202569294
8 ALS2 NM_020919.3(ALS2): c.2992C> T (p.Arg998Ter) single nucleotide variant Pathogenic rs121908137 GRCh37 Chromosome 2, 202591577: 202591577
9 ALS2 NM_020919.3(ALS2): c.470G> A (p.Cys157Tyr) single nucleotide variant Pathogenic rs121908138 GRCh37 Chromosome 2, 202626247: 202626247
10 ALS2 NM_020919.3(ALS2): c.2143C> T (p.Gln715Ter) single nucleotide variant Pathogenic rs121908139 GRCh37 Chromosome 2, 202609008: 202609008
11 ALS2 NM_020919.3(ALS2): c.1425_1428delAGAG (p.Gly477Alafs) deletion Pathogenic rs878855058 GRCh37 Chromosome 2, 202622168: 202622171

Expression for Infantile-Onset Ascending Hereditary Spastic Paralysis

Search GEO for disease gene expression data for Infantile-Onset Ascending Hereditary Spastic Paralysis.

Pathways for Infantile-Onset Ascending Hereditary Spastic Paralysis

GO Terms for Infantile-Onset Ascending Hereditary Spastic Paralysis

Sources for Infantile-Onset Ascending Hereditary Spastic Paralysis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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