MCID: INF041
MIFTS: 37

Infantile-Onset Ascending Hereditary Spastic Paralysis

Categories: Rare diseases, Genetic diseases, Neuronal 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 72 50 25 29
Iahsp 50 24 25 52
Infantile-Onset Ascending Hereditary Spastic Paraplegia 25
Hereditary Spastic Paralysis, Infantile Onset Ascending 69
Infantile Onset Ascending Hereditary Spastic Paralysis 24
Spastic Paralysis, Infantile Onset Ascending 50
Infantile Onset Ascending Spastic Paralysis 25
Spastic Paraplegia, Hereditary 69
Hereditary Spastic Paraplegia 72

Classifications:



Summaries for Infantile-Onset Ascending Hereditary Spastic Paralysis

Genetics Home Reference : 25 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 hereditary spastic paraplegia and hereditary spastic paraplegia 3a, 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 Botulinum Toxins have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and eye.

NIH Rare Diseases : 50 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:

(show top 50) (show all 71)
id Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 12.6
2 hereditary spastic paraplegia 3a 12.4
3 hereditary spastic paraplegia 62 12.2
4 hereditary spastic paraplegia 72 12.2
5 hereditary spastic paraplegia 51 12.2
6 troyer syndrome 12.2
7 spastic paraplegia 7, autosomal recessive 12.1
8 spastic paraplegia 2, x-linked 12.0
9 spastic paraplegia 11 12.0
10 silver spastic paraplegia syndrome 11.9
11 mast syndrome 11.9
12 masa syndrome 11.9
13 spg11-related hereditary spastic paraplegia with thin corpus callosum 11.9
14 spastic paraplegia 23 11.8
15 spastic paraplegia 4, autosomal dominant 11.8
16 spastic paraplegia 5a, autosomal recessive 11.8
17 spastic paraplegia 11, autosomal recessive 11.8
18 spastic paraplegia 29, autosomal dominant 11.8
19 spastic paraplegia 44, autosomal recessive 11.8
20 spastic paraplegia 31, autosomal dominant 11.8
21 spastic paraplegia 13, autosomal dominant 11.8
22 spastic paraplegia 30, autosomal recessive 11.8
23 spastic paraplegia 57, autosomal recessive 11.8
24 spastic paraplegia 42, autosomal dominant 11.8
25 spastic paraplegia 14, autosomal recessive 11.8
26 spastic paraplegia 38, autosomal dominant 11.8
27 spastic paraplegia 56, autosomal recessive 11.8
28 spastic paraplegia 25, autosomal recessive 11.8
29 spastic paraplegia 48, autosomal recessive 11.8
30 spastic paraplegia 37, autosomal dominant 11.8
31 spastic paraplegia 54, autosomal recessive 11.8
32 spastic paraplegia 18, autosomal recessive 11.8
33 spastic paraplegia 8, autosomal dominant 11.8
34 spastic paraplegia 46, autosomal recessive 11.8
35 spastic paraplegia 45, autosomal recessive 11.8
36 spastic paraplegia 41, autosomal dominant 11.8
37 spastic paraplegia 10, autosomal dominant 11.8
38 spastic paraplegia 26, autosomal recessive 11.8
39 spastic paraplegia 36, autosomal dominant 11.8
40 spastic paraplegia 55, autosomal recessive 11.8
41 spastic paraplegia 24, autosomal recessive 11.8
42 spastic paraplegia 32, autosomal recessive 11.8
43 spastic paraplegia 28, autosomal recessive 11.8
44 spastic paraplegia 15, autosomal recessive 11.8
45 spastic paraplegia 49, autosomal recessive 11.8
46 spastic paraplegia 6, autosomal dominant 11.8
47 spastic paraplegia 61, autosomal recessive 11.8
48 spastic paraplegia 35, autosomal recessive 11.8
49 spastic paraplegia 39, autosomal recessive 11.8
50 spastic paraplegia 43, autosomal recessive 11.8

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:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 abnormality of eye movement 32 frequent (33%) HP:0000496
2 spastic paraplegia 32 hallmark (90%) HP:0001258
3 dysarthria 32 hallmark (90%) HP:0001260
4 hyperreflexia 32 hallmark (90%) HP:0001347
5 pseudobulbar behavioral symptoms 32 frequent (33%) HP:0002193
6 anarthria 32 hallmark (90%) HP:0002425
7 tetraplegia 32 hallmark (90%) HP:0002445
8 spastic tetraplegia 32 hallmark (90%) HP:0002510
9 chewing difficulties 32 hallmark (90%) HP:0005216
10 abnormal pyramidal signs 32 hallmark (90%) HP:0007256

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


leg cramps, pain in lower limb, 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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 2, Phase 3 51-84-3 187
2 Botulinum Toxins Phase 2, Phase 3
3 Cholinergic Agents Phase 2, Phase 3
4 Neurotransmitter Agents Phase 2, Phase 3
5
Choline Approved, Nutraceutical 62-49-7 305
6 N-Methylaspartate
7 Aspartic Acid Nutraceutical
8
Creatine Nutraceutical 57-00-1 586

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Active, not recruiting 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:

id Genetic test Affiliating Genes
1 Infantile-Onset Ascending Hereditary Spastic Paralysis 29
2 Infantile Onset Ascending Hereditary Spastic Paralysis 24

Anatomical Context for Infantile-Onset Ascending Hereditary Spastic Paralysis

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

39
Spinal Cord, Brain, Eye

Publications for Infantile-Onset Ascending Hereditary Spastic Paralysis

Articles related to Infantile-Onset Ascending Hereditary Spastic Paralysis:

id 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 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 ALS2 NM_020919.3(ALS2): c.3619delA (p.Met1207Terfs) deletion Pathogenic rs386134187 GRCh37 Chromosome 2, 202588058: 202588058
2 ALS2 NM_020919.3(ALS2): c.1472_1481delTTTCCCCCAG single nucleotide variant Pathogenic rs387906316 GRCh37 Chromosome 2, 202619395: 202619395
3 ALS2 NM_020919.3(ALS2): c.2537_2538delAT (p.Asn846Ilefs) deletion Pathogenic rs386134183 GRCh37 Chromosome 2, 202598041: 202598042
4 ALS2 NM_020919.3(ALS2): c.1007_1008delTA (p.Ile336Thrfs) deletion Pathogenic rs386134175 GRCh37 Chromosome 2, 202625709: 202625710
5 ALS2 NM_020919.3(ALS2): c.4721delT (p.Val1574Alafs) deletion Pathogenic rs386134188 GRCh37 Chromosome 2, 202569294: 202569294
6 ALS2 NM_020919.3(ALS2): c.2992C> T (p.Arg998Ter) single nucleotide variant Pathogenic rs121908137 GRCh37 Chromosome 2, 202591577: 202591577
7 ALS2 NM_020919.3(ALS2): c.470G> A (p.Cys157Tyr) single nucleotide variant Pathogenic rs121908138 GRCh37 Chromosome 2, 202626247: 202626247
8 ALS2 NM_020919.3(ALS2): c.2143C> T (p.Gln715Ter) single nucleotide variant Pathogenic rs121908139 GRCh37 Chromosome 2, 202609008: 202609008
9 ALS2 NM_020919.3(ALS2): c.1999-2A> T single nucleotide variant Pathogenic rs386134182 GRCh37 Chromosome 2, 202609154: 202609154
10 ALS2 NM_020919.3(ALS2): c.2761C> T (p.Arg921Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587777132 GRCh37 Chromosome 2, 202593315: 202593315
11 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh37 Chromosome 2, 241727625: 241727625
12 ALS2 NM_020919.3(ALS2): c.1425_1428delAGAG (p.Gly477Alafs) deletion Pathogenic rs878855058 GRCh37 Chromosome 2, 202622168: 202622171
13 KY NM_178554.4(KY): c.51_52insTATCGACATGTGCTGTATCTATCGACAT (p.Val18Tyrfs) insertion Pathogenic rs1085307110 GRCh37 Chromosome 3, 134369751: 134369752

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

Cellular components related to Infantile-Onset Ascending Hereditary Spastic Paralysis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 8.85 ALS2
2 neuronal cell body GO:0043025 8.65 ALS2
3 axon GO:0030424 8.62 ALS2 KIF1A

Sources for Infantile-Onset Ascending Hereditary Spastic Paralysis

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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