ORPHA:58
Alexander disease
Synonyms: AxD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alexander disease | AxD |
| fr | Maladie d'Alexander | = en |
| de | Alexander-Krankheit | Alexander-Syndrom · AxD |
| es | Enfermedad de Alexander | = en |
| it | Malattia di Alexander | = en |
| nl | Ziekte van Alexander | = en |
| pt | Doença de Alexander | |
| pl | Choroba Alexandra | = en |
| cs | Alexandrova choroba | = en |
| uk | Хвороба Александера | = en |
| zh | 亚历山大病 | = en |
| tr | Alexander hastalığı | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203450 | E | validated | |
| ICD-10 | G93.8 | NTBT | attributed | validated |
| ICD-11 | 8A44.2 | E | specific | validated |
| MONDO | 0008752 | E | validated | |
| MeSH | D038261 | E | validated | |
| UMLS | C0270726 | E | validated | |
| GARD | 5774 | E | validated | |
| MedDRA | 10083059 | 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:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| GFAP | ORPHA:363717Alexander disease type I | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:4235 | ENSG00000131095 | 137780 | 17q21.31 | glial fibrillary acidic protein | 20301351[PMID] |
| GFAP | ORPHA:363722Alexander disease type II | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.037 / 100 000 | Japan | Value and class | Validated | 21533827[PMID]_[EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | 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
61 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002169 | Clonus | |
| HP:0002353 | EEG abnormality | |
| HP:0001508 | Failure to thrive | |
| HP:0002007 | Frontal bossing | |
| HP:0001347 | Hyperreflexia | |
| HP:0001249 | Intellectual disability | |
| HP:0100729 | Large face | |
| HP:0000256 | Macrocephaly | |
| HP:0001355 | Megalencephaly | |
| HP:0002017 | Nausea and vomiting | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0002381 | Aphasia | |
| HP:0001251 | Ataxia | |
| HP:0002514 | Cerebral calcification | |
| HP:0002019 | Constipation | |
| HP:0000716 | Depression | |
| HP:0000651 | Diplopia | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0001618 | Dysphonia | |
| HP:0000712 | Emotional lability | |
| HP:0010628 | Facial palsy | |
| HP:0001288 | Gait disturbance | |
| HP:0000975 | Hyperhidrosis | |
| HP:0002615 | Hypotension | |
| HP:0002045 | Hypothermia | |
| HP:0002808 | Kyphosis | |
| HP:0000639 | Nystagmus | |
| HP:0000508 | Ptosis | |
| HP:0100247 | Recurrent singultus | |
| HP:0010535 | Sleep apnea | |
| HP:0002445 | Tetraplegia | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0002410 | Aqueductal stenosis | |
| HP:0002607 | Bowel incontinence | |
| HP:0002072 | Chorea | |
| HP:0002376 | Developmental regression | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000218 | High palate | |
| HP:0000238 | Hydrocephalus | |
| HP:0003307 | Hyperlordosis | |
| HP:0007481 | Hyperpigmented nevi | |
| HP:0000822 | Hypertension | |
| HP:0000821 | Hypothyroidism | |
| HP:0001252 | Hypotonia | |
| HP:0002383 | Infectious encephalitis | |
| HP:0001324 | Muscle weakness | |
| HP:0000938 | Osteopenia | |
| HP:0000826 | Precocious puberty | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000470 | Short neck | |
| HP:0001645 | Sudden cardiac death | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/58
- This record as JSON: /data/d/58.json