MCID: INF041
MIFTS: 28

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 53 25 29 6
Iahsp 53 25
Paralysis, Spastic, Hereditary, Ascending, Infantile-Onset 40
Infantile-Onset Ascending Hereditary Spastic Paraplegia 25
Hereditary Spastic Paralysis, Infantile Onset Ascending 73
Spastic Paralysis, Infantile Onset Ascending 53
Infantile Onset Ascending Spastic Paralysis 25

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 spastic paralysis, infantile-onset ascending and spasticity, and has symptoms including muscle weakness and facial paresis. 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, and related phenotypes are abnormality of eye movement and spastic paraplegia

NIH Rare Diseases : 53 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.

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

Symptoms & Phenotypes for Infantile-Onset Ascending Hereditary Spastic Paralysis

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

32 (show all 10)
# 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 impaired mastication 32 hallmark (90%) HP:0005216
10 abnormal pyramidal signs 32 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 Studying Cognition in SPG4 Completed NCT03104088
4 Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 Recruiting NCT02859428
5 Studying Non-motor Symptoms in SPG4 Recruiting NCT03204773
6 The Pre-SPG4 Study Recruiting NCT03206190 Not Applicable
7 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
8 Genetic and Physical Study of Childhood Nerve and Muscle Disorders Recruiting NCT01568658
9 A Patient Centric Motor Neuron Disease Activities of Daily Living Scale Enrolling by invitation NCT02852278

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 29 ALS2

Anatomical Context for Infantile-Onset Ascending Hereditary Spastic Paralysis

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

41
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 top 50) (show all 116)
# 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.3619delA (p.Met1207Terfs) deletion Pathogenic rs386134187 GRCh38 Chromosome 2, 201723335: 201723335
3 ALS2 NM_020919.3(ALS2): c.1472_1481delTTTCCCCCAG single nucleotide variant Pathogenic rs387906316 GRCh37 Chromosome 2, 202619395: 202619395
4 ALS2 NM_020919.3(ALS2): c.1472_1481delTTTCCCCCAG single nucleotide variant Pathogenic rs387906316 GRCh38 Chromosome 2, 201754672: 201754672
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.2537_2538delAT (p.Asn846Ilefs) deletion Pathogenic rs386134183 GRCh38 Chromosome 2, 201733318: 201733319
7 ALS2 NM_020919.3(ALS2): c.1007_1008delTA (p.Ile336Thrfs) deletion Pathogenic rs386134175 GRCh37 Chromosome 2, 202625709: 202625710
8 ALS2 NM_020919.3(ALS2): c.1007_1008delTA (p.Ile336Thrfs) deletion Pathogenic rs386134175 GRCh38 Chromosome 2, 201760986: 201760987
9 ALS2 NM_020919.3(ALS2): c.4721delT (p.Val1574Alafs) deletion Pathogenic rs386134188 GRCh37 Chromosome 2, 202569294: 202569294
10 ALS2 NM_020919.3(ALS2): c.4721delT (p.Val1574Alafs) deletion Pathogenic rs386134188 GRCh38 Chromosome 2, 201704571: 201704571
11 ALS2 NM_020919.3(ALS2): c.2992C> T (p.Arg998Ter) single nucleotide variant Pathogenic rs121908137 GRCh37 Chromosome 2, 202591577: 202591577
12 ALS2 NM_020919.3(ALS2): c.2992C> T (p.Arg998Ter) single nucleotide variant Pathogenic rs121908137 GRCh38 Chromosome 2, 201726854: 201726854
13 ALS2 NM_020919.3(ALS2): c.470G> A (p.Cys157Tyr) single nucleotide variant Pathogenic rs121908138 GRCh37 Chromosome 2, 202626247: 202626247
14 ALS2 NM_020919.3(ALS2): c.470G> A (p.Cys157Tyr) single nucleotide variant Pathogenic rs121908138 GRCh38 Chromosome 2, 201761524: 201761524
15 ALS2 NM_020919.3(ALS2): c.2143C> T (p.Gln715Ter) single nucleotide variant Pathogenic rs121908139 GRCh37 Chromosome 2, 202609008: 202609008
16 ALS2 NM_020919.3(ALS2): c.2143C> T (p.Gln715Ter) single nucleotide variant Pathogenic rs121908139 GRCh38 Chromosome 2, 201744285: 201744285
17 ALS2 NM_020919.3(ALS2): c.1999-2A> T single nucleotide variant Pathogenic rs386134182 GRCh37 Chromosome 2, 202609154: 202609154
18 ALS2 NM_020919.3(ALS2): c.1999-2A> T single nucleotide variant Pathogenic rs386134182 GRCh38 Chromosome 2, 201744431: 201744431
19 ALS2 NM_020919.3(ALS2): c.2761C> T (p.Arg921Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587777132 GRCh37 Chromosome 2, 202593315: 202593315
20 ALS2 NM_020919.3(ALS2): c.2761C> T (p.Arg921Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587777132 GRCh38 Chromosome 2, 201728592: 201728592
21 ALS2 NM_020919.3(ALS2): c.4261C> T (p.Arg1421Ter) single nucleotide variant no interpretation for the single variant rs863225293 GRCh37 Chromosome 2, 202574623: 202574623
22 ALS2 NM_020919.3(ALS2): c.4261C> T (p.Arg1421Ter) single nucleotide variant no interpretation for the single variant rs863225293 GRCh38 Chromosome 2, 201709900: 201709900
23 ALS2 NM_020919.3(ALS2): c.1911C> A (p.Tyr637Ter) single nucleotide variant no interpretation for the single variant rs863225294 GRCh37 Chromosome 2, 202611376: 202611376
24 ALS2 NM_020919.3(ALS2): c.1911C> A (p.Tyr637Ter) single nucleotide variant no interpretation for the single variant rs863225294 GRCh38 Chromosome 2, 201746653: 201746653
25 ALS2 NM_020919.3(ALS2): c.3517G> A (p.Glu1173Lys) single nucleotide variant Benign rs41309046 GRCh37 Chromosome 2, 202588160: 202588160
26 ALS2 NM_020919.3(ALS2): c.3517G> A (p.Glu1173Lys) single nucleotide variant Benign rs41309046 GRCh38 Chromosome 2, 201723437: 201723437
27 ALS2 NM_020919.3(ALS2): c.4764G> A (p.Ala1588=) single nucleotide variant Benign rs35110478 GRCh38 Chromosome 2, 201704528: 201704528
28 ALS2 NM_020919.3(ALS2): c.4764G> A (p.Ala1588=) single nucleotide variant Benign rs35110478 GRCh37 Chromosome 2, 202569251: 202569251
29 ALS2 NM_020919.3(ALS2): c.4498G> A (p.Glu1500Lys) single nucleotide variant Uncertain significance rs780151065 GRCh37 Chromosome 2, 202571651: 202571651
30 ALS2 NM_020919.3(ALS2): c.4498G> A (p.Glu1500Lys) single nucleotide variant Uncertain significance rs780151065 GRCh38 Chromosome 2, 201706928: 201706928
31 ALS2 NM_020919.3(ALS2): c.2241C> T (p.Tyr747=) single nucleotide variant Conflicting interpretations of pathogenicity rs3219160 GRCh37 Chromosome 2, 202606507: 202606507
32 ALS2 NM_020919.3(ALS2): c.2241C> T (p.Tyr747=) single nucleotide variant Conflicting interpretations of pathogenicity rs3219160 GRCh38 Chromosome 2, 201741784: 201741784
33 ALS2 NM_020919.3(ALS2): c.1623C> T (p.His541=) single nucleotide variant Likely benign rs377247745 GRCh37 Chromosome 2, 202619243: 202619243
34 ALS2 NM_020919.3(ALS2): c.1623C> T (p.His541=) single nucleotide variant Likely benign rs377247745 GRCh38 Chromosome 2, 201754520: 201754520
35 ALS2 NM_020919.3(ALS2): c.1425_1428delAGAG (p.Gly477Alafs) deletion Pathogenic rs878855058 GRCh37 Chromosome 2, 202622168: 202622171
36 ALS2 NM_020919.3(ALS2): c.1425_1428delAGAG (p.Gly477Alafs) deletion Pathogenic rs878855058 GRCh38 Chromosome 2, 201757445: 201757448
37 ALS2 NM_020919.3(ALS2): c.1115C> G (p.Pro372Arg) single nucleotide variant Uncertain significance rs190369242 GRCh37 Chromosome 2, 202622481: 202622481
38 ALS2 NM_020919.3(ALS2): c.1115C> G (p.Pro372Arg) single nucleotide variant Uncertain significance rs190369242 GRCh38 Chromosome 2, 201757758: 201757758
39 ALS2 NM_020919.3(ALS2): c.475G> A (p.Glu159Lys) single nucleotide variant Benign/Likely benign rs3219155 GRCh38 Chromosome 2, 201761519: 201761519
40 ALS2 NM_020919.3(ALS2): c.475G> A (p.Glu159Lys) single nucleotide variant Benign/Likely benign rs3219155 GRCh37 Chromosome 2, 202626242: 202626242
41 ALS2 NM_020919.3(ALS2): c.3885G> A (p.Ala1295=) single nucleotide variant Benign/Likely benign rs34946105 GRCh37 Chromosome 2, 202580514: 202580514
42 ALS2 NM_020919.3(ALS2): c.3885G> A (p.Ala1295=) single nucleotide variant Benign/Likely benign rs34946105 GRCh38 Chromosome 2, 201715791: 201715791
43 ALS2 NM_020919.3(ALS2): c.1816-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs185911369 GRCh37 Chromosome 2, 202611479: 202611479
44 ALS2 NM_020919.3(ALS2): c.1816-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs185911369 GRCh38 Chromosome 2, 201746756: 201746756
45 ALS2 NM_020919.3(ALS2): c.280A> G (p.Ile94Val) single nucleotide variant Benign/Likely benign rs3219154 GRCh37 Chromosome 2, 202626437: 202626437
46 ALS2 NM_020919.3(ALS2): c.280A> G (p.Ile94Val) single nucleotide variant Benign/Likely benign rs3219154 GRCh38 Chromosome 2, 201761714: 201761714
47 ALS2 NM_020919.3(ALS2): c.4119A> G (p.Ile1373Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61757691 GRCh37 Chromosome 2, 202575717: 202575717
48 ALS2 NM_020919.3(ALS2): c.4119A> G (p.Ile1373Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61757691 GRCh38 Chromosome 2, 201710994: 201710994
49 ALS2 NM_020919.3(ALS2): c.1677A> G (p.Lys559=) single nucleotide variant Conflicting interpretations of pathogenicity rs367640165 GRCh38 Chromosome 2, 201753206: 201753206
50 ALS2 NM_020919.3(ALS2): c.1677A> G (p.Lys559=) single nucleotide variant Conflicting interpretations of pathogenicity rs367640165 GRCh37 Chromosome 2, 202617929: 202617929

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

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17 ExPASy
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74 UMLS via Orphanet
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