ORPHA:726
Alpers-Huttenlocher syndrome
Synonyms: Alpers progressive sclerosing poliodystrophy · Alpers syndrome · Progressive neuronal degeneration of childhood with liver disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alpers-Huttenlocher syndrome | Alpers progressive sclerosing poliodystrophy · Alpers syndrome · Progressive neuronal degeneration of childhood with liver disease |
| fr | Syndrome d'Alpers-Huttenlocher | Dégénérescence neuronale progressive de l'enfant avec maladie du foie · Polydystrophie sclérosante progressive d'Alpers · Syndrome d'Alpers |
| de | Alpers-Huttenlocher-Syndrom | Alpers-Syndrom · Progressive neuronale Degeneration im Kindesalter mit Lebererkrankung · Progressive sklerosierende Poliodystrophie Alpers |
| es | Síndrome de Alpers-Huttenlocher | Degeneración neuronal progresiva de la infancia con enfermedad hepática · Polidistrofia esclerosante progresiva de Alpers · Síndrome de Alpers |
| it | Sindrome di Alpers-Huttenlocher | Degenerazione neuronale progressiva dell'infanzia associata a malatia epatica · Polidistrofia sclerosante progressiva di Alpers · Sindrome di Alpers |
| nl | Syndroom van Alpers-Huttenlocher | Alpers progressieve scleroserende poliodystrofie · Alpers-Huttenlochersyndroom · Alperssyndroom · Progressieve neuronale degeneratie in de kinderjaren met leverziekte · Syndroom van Alpers |
| pt | Síndrome Alpers-Huttenlocher | Síndrome Alpers |
| pl | Zespół Alpersa i Huttenlochera | Dziecięce postępujące zwyrodnienie neuronalne z chorobą wątroby · Postępująca stwardniająca poliodystrofia Alpersa · Zespół Alpersa |
| cs | Alpersův-Huttenlocherův syndrom | Alpersova progresivní sklerózní poliodystrofie · Progresivní infantilní neuronální degenerace s postižením jater · Alpersův syndrom · Alpers-Huttenlocherův syndrom |
| uk | Синдром Альперса-Гуттенлохера | Альпійська прогресуюча склерозуюча поліодистрофія · Синдром Альперса · Прогресуюча дегенерація нейронів у дітей із захворюваннями печінки |
| zh | Alpers-Huttenlocher综合征 | 儿童进行性神经元变性伴肝病 |
| tr | Alpers-Huttenlocher sendromu | Alpers sendromu · Alpers ilerleyici sklerozan poliodistrofi · Karaciğer hastalığı olan çocukluk dönemi ilerleyici nöronal dejenerasyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203700 | E | validated | |
| ICD-10 | G31.8 | NTBT | inclusion | validated |
| ICD-11 | 5C53.20 | NTBT | index | validated |
| MONDO | 0008758 | E | validated | |
| UMLS | C0205710 | E | validated | |
| GARD | 5783 | E | validated | |
| MedDRA | 10062943 | 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 (7):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:254871Mitochondrial DNA depletion syndrome, hepatocerebral form
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases - ORPHA:225700Mitochondrial disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:225703Mitochondrial disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological 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 |
|---|---|---|---|---|---|---|---|---|
| POLG | Disease-causing germline mutation(s) in | Assessed | HGNC:9179 | ENSG00000140521 | 174763 | 15q26.1 | DNA polymerase gamma, catalytic subunit | 22237560[PMID]_22000311[PMID]_23545419[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 / 100 000 | Europe | Value and class | Validated | 19766516[PMID]_Pr Robert NAVIAUX[EXPERT] |
| Point prevalence | <1 / 1 000 000 | 0.07 / 100 000 | Europe | Value and class | Not yet 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
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0001284 | Areflexia | |
| HP:0001251 | Ataxia | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0001266 | Choreoathetosis | |
| HP:0001259 | Coma | |
| HP:0002376 | Developmental regression | |
| HP:0007359 | Focal-onset seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0000252 | Microcephaly | |
| HP:0001336 | Myoclonus | |
| HP:0002385 | Paraparesis | |
| HP:0002191 | Progressive spasticity | |
| HP:0002313 | Spastic paraparesis | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0000618 | Blindness | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/726
- This record as JSON: /data/d/726.json