ORPHA:293168
Infantile-onset ascending hereditary spastic paralysis
Synonyms: IAHSP
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile-onset ascending hereditary spastic paralysis | IAHSP |
| fr | Paralysie spastique infantile ascendante héréditaire | = en |
| de | Hereditäre Spastische Paralyse, aufsteigende, des frühen Kindesalters | = en |
| es | Parálisis espástica ascendente hereditaria de inicio en el lactante | = en |
| it | Paralisi spastica ascendente ereditaria a esordio infantile | = en |
| nl | Opstijgende erfelijke spastische paralyse met infantiele aanvang | = en |
| pt | Paralisia espástica ascendente hereditária de início na infância | = en |
| pl | Dziedziczne wstępujące porażenie spastyczne o początku w wieku niemowlęcym | = en |
| cs | Vzestupná dědičná spastická paralýza s nástupem v kojeneckém věku | = en |
| uk | Висхідний спадковий спастичний параліч, що починається в дитинстві | = en |
| zh | 婴儿起病的上行性遗传性痉挛性瘫痪 | 婴儿起病上行性遗传性痉挛性瘫痪 |
| tr | İnfantil-başlangıçlı artan kalıtsal spastik paraliz | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607225 | E | validated | |
| ICD-10 | G12.2 | NTBT | attributed | validated |
| MONDO | 0011797 | E | validated | |
| MeSH | C537217 | E | validated | |
| UMLS | C2931441 | E | validated | |
| GARD | 4914 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98505Genetic motor neuron disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:443 | ENSG00000003393 | 606352 | 2q33.1 | alsin Rho guanine nucleotide exchange factor ALS2 | 24315819[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 families | Worldwide | Family(ies) | Validated | 12145748[PMID]_12919135[PMID]_12601111[PMID]_12509863[PMID]_18394004[PMID]_16718699[PMID]_18810511[PMID]_18523452[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002425 | Anarthria | |
| HP:0001260 | Dysarthria | |
| HP:0001347 | Hyperreflexia | |
| HP:0005216 | Impaired mastication | |
| HP:0001258 | Spastic paraplegia | |
| HP:0002510 | Spastic tetraplegia | |
| HP:0001257 | Spasticity | |
| HP:0002445 | Tetraplegia | |
| Frequent (79-30%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0002193 | Pseudobulbar behavioral symptoms | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293168
- This record as JSON: /data/d/293168.json