IAHSP
MCID: INF041
MIFTS: 29

Infantile-Onset Ascending Hereditary Spastic Paralysis (IAHSP)

Categories: Genetic diseases, Neuronal diseases, Rare 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 52 25 29 6
Iahsp 52 25
Paralysis, Spastic, Hereditary, Ascending, Infantile-Onset 39
Infantile-Onset Ascending Hereditary Spastic Paraplegia 25
Hereditary Spastic Paralysis, Infantile Onset Ascending 71
Spastic Paralysis, Infantile Onset Ascending 52
Infantile Onset Ascending Spastic Paralysis 25

Classifications:



External Ids:

UMLS 71 C2931441

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. Affected infants are typically normal at birth, then within the first 2 years of life, the initial symptoms of infantile-onset ascending hereditary spastic paralysis appear. Early symptoms include exaggerated reflexes (hyperreflexia) and recurrent muscle spasms in the legs. As the condition progresses, affected children develop abnormal tightness and stiffness in the leg muscles and weakness in the legs and arms. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head and neck. Muscles in the head and neck usually weaken during adolescence; symptoms include slow eye movements and difficulty with speech and swallowing. Affected individuals may lose the ability to speak (anarthria). The leg and arm muscle weakness can become so severe as to lead to paralysis; as a result affected individuals require wheelchair assistance by late childhood or early adolescence. Intelligence is not affected in this condition. A condition called juvenile primary lateral sclerosis shares many of the features of infantile-onset ascending hereditary spastic paralysis. Both conditions have the same genetic cause and significantly impair movement beginning in childhood; however, the pattern of nerve degeneration is different. Because of their similarities, these conditions are sometimes considered the same disorder.

MalaCards based summary : Infantile-Onset Ascending Hereditary Spastic Paralysis, also known as iahsp, is related to spastic paralysis, infantile-onset ascending and paraplegia, and has symptoms including muscle weakness and facial paresis. An important gene associated with Infantile-Onset Ascending Hereditary Spastic Paralysis is ALS2 (Alsin Rho Guanine Nucleotide Exchange Factor ALS2). Affiliated tissues include eye, brain and spinal cord, and related phenotypes are hyperreflexia and abnormal pyramidal sign

NIH Rare Diseases : 52 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:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 spastic paralysis, infantile-onset ascending 12.1
2 paraplegia 10.4
3 amyotrophic lateral sclerosis 1 10.3
4 primary lateral sclerosis, adult, 1 10.3
5 scoliosis 10.3
6 quadriplegia 10.3
7 lateral sclerosis 10.3
8 motor neuron disease 10.3
9 hereditary spastic paraplegia 10.3
10 juvenile amyotrophic lateral sclerosis 10.3
11 spastic paraparesis 10.3
12 dysphagia 10.3
13 primary lateral sclerosis, juvenile 10.2
14 dystonia 10.2
15 als2-related disorders 10.1
16 chromosomal triplication 10.1
17 maternal uniparental disomy 10.1

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 hyperreflexia 31 hallmark (90%) HP:0001347
2 abnormal pyramidal sign 31 hallmark (90%) HP:0007256
3 dysarthria 31 hallmark (90%) HP:0001260
4 tetraplegia 31 hallmark (90%) HP:0002445
5 spastic tetraplegia 31 hallmark (90%) HP:0002510
6 spastic paraplegia 31 hallmark (90%) HP:0001258
7 impaired mastication 31 hallmark (90%) HP:0005216
8 anarthria 31 hallmark (90%) HP:0002425
9 abnormality of eye movement 31 frequent (33%) HP:0000496
10 pseudobulbar behavioral symptoms 31 frequent (33%) HP:0002193

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


muscle weakness, facial paresis

Drugs & Therapeutics for Infantile-Onset Ascending Hereditary Spastic Paralysis

Search Clinical Trials , 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:

40
Eye, Brain, Spinal Cord

Publications for Infantile-Onset Ascending Hereditary Spastic Paralysis

Articles related to Infantile-Onset Ascending Hereditary Spastic Paralysis:

(show all 17)
# Title Authors PMID Year
1
A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria. 61
31486053 2019
2
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant. 61
30128655 2018
3
A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis. 61
28502191 2017
4
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia. 61
26751646 2016
5
A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis. 61
24704789 2014
6
Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review. 61
24144828 2014
7
Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T. 61
24315819 2014
8
Are alsin and spartin novel interaction partners? 61
22982304 2012
9
Alfa-class prefoldin protein UXT is a novel interacting partner of Amyotrophic Lateral Sclerosis 2 (Als2) protein. 61
21907703 2011
10
Astrocytic protection of spinal motor neurons but not cortical neurons against loss of Als2/alsin function. 61
19304783 2009
11
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP). 61
18810511 2009
12
Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration. 61
17566607 2007
13
The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. 61
16670179 2006
14
Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis. 61
16718699 2006
15
ALS2-Related Disorders 61
20301421 2005
16
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. 61
12601111 2003
17
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. 61
12145748 2002

Variations for Infantile-Onset Ascending Hereditary Spastic Paralysis

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

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALS2 NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs)deletion Pathogenic 4406 rs386134181 2:202611419-202611420 2:201746696-201746697
2 ALS2 NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer)deletion Pathogenic 4408 rs386134187 2:202588058-202588058 2:201723335-201723335
3 ALS2 NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAGSNV Pathogenic 4409 rs387906316 2:202619395-202619395 2:201754672-201754672
4 ALS2 NM_020919.4(ALS2):c.2537_2538del (p.Asn846fs)deletion Pathogenic 4410 rs386134183 2:202598041-202598042 2:201733318-201733319
5 ALS2 NM_020919.4(ALS2):c.1007_1008del (p.Ile336fs)deletion Pathogenic 4411 rs386134175 2:202625709-202625710 2:201760986-201760987
6 ALS2 NM_020919.4(ALS2):c.4721del (p.Val1574fs)deletion Pathogenic 4412 rs386134188 2:202569294-202569294 2:201704571-201704571
7 ALS2 NM_020919.4(ALS2):c.2992C>T (p.Arg998Ter)SNV Pathogenic 4413 rs121908137 2:202591577-202591577 2:201726854-201726854
8 ALS2 NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr)SNV Pathogenic 4415 rs121908138 2:202626247-202626247 2:201761524-201761524
9 ALS2 NM_020919.4(ALS2):c.2143C>T (p.Gln715Ter)SNV Pathogenic 4417 rs121908139 2:202609008-202609008 2:201744285-201744285
10 ALS2 NM_020919.4(ALS2):c.1999-2A>TSNV Pathogenic 42060 rs386134182 2:202609154-202609154 2:201744431-201744431
11 ALS2 NM_020919.4(ALS2):c.1425_1428del (p.Gly477fs)deletion Pathogenic 241308 rs878855058 2:202622168-202622171 2:201757445-201757448
12 ALS2 NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter)SNV Pathogenic 533743 rs369577952 2:202622363-202622363 2:201757640-201757640
13 ALS2 NM_020919.4(ALS2):c.1921C>T (p.Gln641Ter)SNV Pathogenic 533744 rs1553511680 2:202611366-202611366 2:201746643-201746643
14 ALS2 NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter)SNV Pathogenic 645923 2:202588157-202588157 2:201723434-201723434
15 ALS2 NM_020919.4(ALS2):c.913del (p.Glu304_Leu305insTer)deletion Pathogenic 807369 2:202625804-202625804 2:201761081-201761081
16 ALS2 NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)SNV Pathogenic/Likely pathogenic 804392 2:202626116-202626116 2:201761393-201761393
17 ALS2 NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter)SNV Pathogenic/Likely pathogenic 100653 rs587777132 2:202593315-202593315 2:201728592-201728592
18 ALS2 NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter)SNV Likely pathogenic 242457 rs863225293 2:202574623-202574623 2:201709900-201709900
19 ALS2 NM_020919.4(ALS2):c.1911C>A (p.Tyr637Ter)SNV Likely pathogenic 242456 rs863225294 2:202611376-202611376 2:201746653-201746653
20 ALS2 NM_020919.4(ALS2):c.1816-1G>ASNV Likely pathogenic 412209 rs1060503672 2:202611472-202611472 2:201746749-201746749
21 ALS2 NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs)deletion Likely pathogenic 800527 2:202625656-202625663 2:201760933-201760940
22 ALS2 NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter)SNV Likely pathogenic 804391 2:202609047-202609047 2:201744324-201744324
23 ALS2 NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)SNV Conflicting interpretations of pathogenicity 241307 rs190369242 2:202622481-202622481 2:201757758-201757758
24 ALS2 NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)SNV Conflicting interpretations of pathogenicity 333595 rs202219507 2:202598100-202598100 2:201733377-201733377
25 ALS2 NM_020919.4(ALS2):c.2712G>A (p.Thr904=)SNV Uncertain significance 333594 rs201200488 2:202593775-202593775 2:201729052-201729052
26 ALS2 NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser)SNV Uncertain significance 412225 rs551822626 2:202582890-202582890 2:201718167-201718167
27 ALS2 NM_020919.4(ALS2):c.4021C>T (p.Arg1341Cys)SNV Uncertain significance 412224 rs771371026 2:202575815-202575815 2:201711092-201711092
28 ALS2 NM_020919.4(ALS2):c.3319G>A (p.Gly1107Arg)SNV Uncertain significance 412226 rs757704778 2:202590107-202590107 2:201725384-201725384
29 ALS2 NM_020919.4(ALS2):c.2222G>A (p.Arg741Gln)SNV Uncertain significance 412227 rs753349655 2:202606526-202606526 2:201741803-201741803
30 ALS2 NM_020919.4(ALS2):c.4498G>A (p.Glu1500Lys)SNV Uncertain significance 241311 rs780151065 2:202571651-202571651 2:201706928-201706928
31 ALS2 NM_020919.4(ALS2):c.4495C>T (p.Arg1499Cys)SNV Uncertain significance 439402 rs112869526 2:202571654-202571654 2:201706931-201706931
32 ALS2 NM_020919.4(ALS2):c.1433G>C (p.Gly478Ala)SNV Uncertain significance 465180 rs373603368 2:202622163-202622163 2:201757440-201757440
33 ALS2 NM_020919.4(ALS2):c.4004+6T>ASNV Uncertain significance 465190 rs1553502811 2:202580389-202580389 2:201715666-201715666
34 ALS2 NM_020919.4(ALS2):c.1641G>A (p.Arg547=)SNV Uncertain significance 465181 rs34122078 2:202617965-202617965 2:201753242-201753242
35 ALS2 NM_020919.4(ALS2):c.2875C>A (p.Leu959Met)SNV Uncertain significance 465188 rs1553506293 2:202592465-202592465 2:201727742-201727742
36 ALS2 NM_020919.4(ALS2):c.1600G>C (p.Gly534Arg)SNV Uncertain significance 533748 rs1553513641 2:202619266-202619266 2:201754543-201754543
37 ALS2 NM_020919.4(ALS2):c.1037A>G (p.Asn346Ser)SNV Uncertain significance 533745 rs199757764 2:202625680-202625680 2:201760957-201760957
38 ALS2 NM_020919.4(ALS2):c.358G>T (p.Ala120Ser)SNV Uncertain significance 533747 rs202084736 2:202626359-202626359 2:201761636-201761636
39 ALS2 NM_020919.4(ALS2):c.1969A>G (p.Lys657Glu)SNV Uncertain significance 465184 rs753947052 2:202611318-202611318 2:201746595-201746595
40 ALS2 NM_020919.4(ALS2):c.1171G>A (p.Ala391Thr)SNV Uncertain significance 465179 rs41308816 2:202622425-202622425 2:201757702-201757702
41 ALS2 NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu)SNV Uncertain significance 533742 rs376835062 2:202580536-202580536 2:201715813-201715813
42 ALS2 NM_020919.4(ALS2):c.3785C>T (p.Thr1262Ile)SNV Uncertain significance 533746 rs1553503506 2:202582851-202582851 2:201718128-201718128
43 ALS2 NM_020919.4(ALS2):c.2581-5T>ASNV Uncertain significance 465187 rs1171928153 2:202593911-202593911 2:201729188-201729188
44 ALS2 NM_020919.4(ALS2):c.2833C>T (p.His945Tyr)SNV Uncertain significance 657160 2:202593243-202593243 2:201728520-201728520
45 ALS2 NM_020919.4(ALS2):c.2566A>G (p.Thr856Ala)SNV Uncertain significance 652809 2:202598013-202598013 2:201733290-201733290
46 ALS2 NM_020919.4(ALS2):c.2089G>A (p.Glu697Lys)SNV Uncertain significance 660990 2:202609062-202609062 2:201744339-201744339
47 ALS2 NM_020919.4(ALS2):c.1624G>A (p.Gly542Ser)SNV Uncertain significance 662391 2:202619242-202619242 2:201754519-201754519
48 ALS2 NM_020919.4(ALS2):c.1439G>A (p.Arg480Gln)SNV Uncertain significance 657700 2:202622157-202622157 2:201757434-201757434
49 ALS2 NM_020919.4(ALS2):c.1325G>C (p.Gly442Ala)SNV Uncertain significance 655414 2:202622271-202622271 2:201757548-201757548
50 ALS2 NM_020919.4(ALS2):c.329G>T (p.Gly110Val)SNV Uncertain significance 643618 2:202626388-202626388 2:201761665-201761665

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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