ORPHA:363722
Alexander disease type II
Synonyms: AxD type II
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alexander disease type II | AxD type II |
| fr | Maladie d'Alexander type II | = en |
| de | Alexander-Krankheit Typ II | AxD Typ II |
| es | Enfermedad de Alexander tipo 2 | AxD tipo II |
| it | Malattia di Alexander, tipo II | AxD, tipo II |
| nl | Ziekte van Alexander type II | = en |
| pt | Doença de Alexander, tipo II | |
| pl | Choroba Alexandera typu II | AxD typu II |
| cs | Alexandrova choroba typ II | AxD typ II |
| uk | Хвороба Александера, тип II | AxD тип II |
| zh | 亚历山大病II型 | AxD2型 |
| tr | Alexander hastalığı tip II | AxD tip II |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203450 | NTBT | validated | |
| ICD-10 | G93.8 | NTBT | attributed | validated |
| MONDO | 0018210 | E | validated | |
| UMLS | C5679914 | 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 (3):
- ORPHA:58Alexander disease
rare genetic diseases; rare neurological diseases - ORPHA:522508Rare genetic ophthalmic disorder with cortical involvement
rare genetic diseases - ORPHA:519343Rare ophthalmic disorder with cortical involvement
rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GFAP | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:4235 | ENSG00000131095 | 137780 | 17q21.31 | glial fibrillary acidic protein | 20301351[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 23700170[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
20 annotations · validated 2022-09-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011441 | Abnormality of the medulla oblongata | |
| HP:0010873 | Cervical spinal cord atrophy | |
| Frequent (79-30%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0001251 | Ataxia | |
| HP:0003487 | Babinski sign | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0001618 | Dysphonia | |
| HP:0001347 | Hyperreflexia | |
| HP:0003690 | Limb muscle weakness | |
| HP:0000639 | Nystagmus | |
| HP:0010530 | Palatal myoclonus | |
| HP:0007109 | Periventricular cysts | |
| HP:0002313 | Spastic paraparesis | |
| HP:0001257 | Spasticity | |
| HP:0002839 | Urinary bladder sphincter dysfunction | |
| Occasional (29-5%) | ||
| HP:0002063 | Rigidity | |
| HP:0002650 | Scoliosis | |
| HP:0002360 | Sleep abnormality | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20721574[PMID]_18684770[PMID]_34245630[PMID]_35246666[PMID]_20359319[PMID]_32779598[PMID]_20301351[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363722
- This record as JSON: /data/d/363722.json