ORPHA:466794
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Synonyms: Autosomal recessive spinocerebellar ataxia type 21 · SCAR21
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | Autosomal recessive spinocerebellar ataxia type 21 · SCAR21 |
| fr | Syndrome d'insuffisance hépatique aiguë infantile-ataxie cérébelleuse-neuropathie sensitivo-motrice périphérique | Ataxie spinocérébelleuse autosomique récessive type 21 · SCAR21 |
| de | Akutes infantiles Leberversagen-zerebelläre Ataxie-periphere sensomotorische Neuropathie-Syndrom | Ataxie, spinozerebelläre, autosomal-rezessive, Typ 21 · SCAR21 |
| es | Síndrome de insuficiencia hepática aguda-ataxia cerebelosa-neuropatía periférica sensitivo-motora infantil | Ataxia espinocerebelosa autosómica recesiva tipo 21 · SCAR21 · Síndrome de fallo hepático-ataxia cerebelosa-neuropatía periférica sensitivo-motora infantil |
| it | Sindrome insufficienza epatica acuta neonatale-atassia cerebellare-neuropatia sensitivo-motoria periferica | |
| nl | Acuut infantiel leverfalen - cerebellaire ataxie - perifere sensomotorische neuropathie-syndroom | Autosomaal recessieve spinocerebellaire ataxie type 21 · SCAR21 |
| pt | Síndrome de insuficiência hepática aguda da infância-ataxia cerebelosa-neuropatia sensitivo-motora periférica | Ataxia espinocerebelosa autossómica recessiva tipo 21 · SCAR21 |
| pl | Zespół ostrej niewydolności wątroby niemowląt, ataksji móżdżkowej oraz obwodowej neuropatii czuciowej | Autosomalna recesywna ataksja mózdżkowo-rdzeniowa typu 21 · SCAR21 |
| cs | Syndrom akutního dětského jaterního selhání, cerebelární ataxie a periferní senzorimotorické neuropatie | SCAR21 · Autosomal recessive spinocerebellar ataxia type 21 · Autozomálně recesivní spinocerebelární ataxie typu 21 |
| uk | Синдром гострої інфантильної печінкової недостатності-мозочкової атаксії- периферичної сенсорної моторної нейропатії | Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 21 · SCAR21 |
| zh | 急性婴儿肝功能衰竭-小脑共济失调-周围感觉运动神经病综合征 | 常染色体隐性脊髓小脑性共济失调21型 |
| tr | Akut infantil karaciğer yetmezliği-serebellar ataksi-periferik duyusal motor nöropati sendromu | SCAR21 · Otozomal çekinik spinoserebellar ataksi tip 21 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616719 | E | validated | |
| ICD-10 | G11.0 | NTBT | attributed | validated |
| MONDO | 0014744 | E | validated | |
| UMLS | C5569084 | 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 (5):
- ORPHA:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:98099Autosomal recessive syndromic cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:156604Genetic parenchymatous liver disease
rare genetic diseases - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
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 |
|---|---|---|---|---|---|---|---|---|
| SCYL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:14372 | ENSG00000142186 | 607982 | 11q13.1 | SCY1 like pseudokinase 1 | 26581903[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 26581903[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26581903[PMID] |
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
25 annotations · validated 2018-03-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0006554 | Acute hepatic failure | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0000641 | Dysmetric saccades | |
| HP:0001945 | Fever | |
| HP:0002359 | Frequent falls | |
| HP:0002066 | Gait ataxia | |
| HP:0009055 | Generalized limb muscle atrophy | |
| HP:0001263 | Global developmental delay | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0001265 | Hyporeflexia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002080 | Intention tremor | |
| HP:0003401 | Paresthesia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0001152 | Saccadic smooth pursuit | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0025268 | Stuttering | |
| Very rare (<4-1%) | ||
| HP:0001347 | Hyperreflexia | |
| HP:0000648 | Optic atrophy | |
| HP:0001257 | Spasticity | |
| HP:0001762 | Talipes equinovarus | |
| Excluded (0%) | ||
| HP:0007663 | Reduced visual acuity | |
Annotation source: 26581903[PMID]_23175812[PMID]_17571074[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/466794
- This record as JSON: /data/d/466794.json