Alexander disease type I
Synonyms: AxD type I
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alexander disease type I | AxD type I |
| fr | Maladie d'Alexander type I | = en |
| de | Alexander-Krankheit Typ I | AxD Typ I |
| es | Enfermedad de Alexander tipo 1 | AxD tipo I |
| it | Malattia di Alexander, tipo I | AxD, tipo I |
| nl | Ziekte van Alexander type I | = en |
| pt | Doença de Alexander, tipo I | |
| pl | Choroba Alexandera typu I | AxD typu I |
| cs | Alexandrova choroba typ I | AxD typ I |
| uk | Хвороба Александера, тип I | AxD тип I |
| zh | 亚历山大病Ⅰ型 | AxD1型 |
| tr | Alexander hastalığı tip I | AxD tip I |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203450 | NTBT | validated | |
| ICD-10 | G93.8 | NTBT | attributed | validated |
| ICD-11 | 8A44.2 | NTBT | index | validated |
| MONDO | 0018209 | E | validated | |
| UMLS | C5769581 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:58Alexander disease
rare genetic diseases; rare neurological diseases
No children.
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] |
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.
HPO phenotypes
22 annotations · validated 2022-09-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0012696 | Abnormal thalamic MRI signal intensity | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001508 | Failure to thrive | |
| HP:0004481 | Progressive macrocephaly | |
| HP:0100320 | Rosenthal fibers | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0004326 | Cachexia | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0001263 | Global developmental delay | |
| HP:0000238 | Hydrocephalus | |
| HP:0001347 | Hyperreflexia | |
| HP:0001257 | Spasticity | |
| Very rare (<4-1%) | ||
| HP:0001290 | Generalized hypotonia | |
| HP:0001252 | Hypotonia | |
| HP:0010530 | Palatal myoclonus | |
| HP:0002013 | Vomiting | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 34146839[PMID]_20301351[PMID]_34865968[PMID]_34826654[PMID]_20721574[PMID]_11237983[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363717
- This record as JSON: /data/d/363717.json