ORPHA:139396
X-linked cerebral adrenoleukodystrophy
Synonyms: X-CALD
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- All ages
- Status
- active
A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy and peripheral neuropathy, and leukodystrophy. Age of onset is highly variable, but often in the first decade.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked cerebral adrenoleukodystrophy | X-CALD |
| fr | Adrénoleucodystrophie liée à l'X, forme cérébrale | = en |
| de | Adrenoleukodystrophie, X-chromosomale, zerebrale Form | = en |
| es | Adrenoleucodistrofia cerebral ligada al cromosoma X | ALDC-X |
| it | Adrenoleucodistrofia cerebrale legata all'X | |
| nl | X-gebonden cerebrale adrenoleukodystrofie | = en |
| pt | Adrenoleucodistrofia ligada ao X cerebral | = en |
| pl | Adrenoleukodystrofia mózgowa sprzężona z chromosomem X | = en |
| cs | X-vázaná cerebrální adrenoleukodystrofie | = en |
| uk | Х-зчеплена церебральна адренолейкодистрофія | = en |
| zh | X连锁遗传脑肾上腺脑白质营养不良 | = en |
| tr | X'e bağlı serebral adrenolökodistrofi | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300100 | NTBT | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C57.1 | NTBT | index | validated |
| MONDO | 0010247 | E | validated | |
| UMLS | C2026514 | E | validated | |
| GARD | 9412 | 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 (2):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:43X-linked adrenoleukodystrophy
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare endocrine diseases; rare infertility disorders; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:61 | ENSG00000101986 | 300371 | Xq28 | ATP binding cassette subfamily D member 1 | 20301491[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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
50 annotations · validated 2020-10-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007305 | CNS demyelination | |
| HP:0008163 | Decreased circulating cortisol level | |
| HP:0007162 | Diffuse demyelination of the cerebral white matter | |
| HP:0001268 | Mental deterioration | |
| HP:0002196 | Myelopathy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0008207 | Primary adrenal insufficiency | |
| HP:0008167 | Very long chain fatty acid accumulation | |
| Frequent (79-30%) | ||
| HP:0004359 | Abnormal circulating fatty-acid concentration | |
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0012501 | Abnormality of the brainstem white matter | |
| HP:0002143 | Abnormality of the spinal cord | |
| HP:0000708 | Atypical behavior | |
| HP:0004302 | Functional motor deficit | |
| HP:0002283 | Global brain atrophy | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0011448 | Ankle clonus | |
| HP:0002186 | Apraxia | |
| HP:0010527 | Astereognosia | |
| HP:0001251 | Ataxia | |
| HP:0001289 | Confusion | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0002015 | Dysphagia | |
| HP:0000317 | Facial myokymia | |
| HP:0001288 | Gait disturbance | |
| HP:0007034 | Generalized hyperreflexia | |
| HP:0003089 | Hamstring contractures | |
| HP:0000365 | Hearing impairment | |
| HP:0001269 | Hemiparesis | |
| HP:0031993 | Hoffmann sign | |
| HP:0000752 | Hyperactivity | |
| HP:0010794 | Impaired visuospatial constructive cognition | |
| HP:0045084 | Limb myoclonus | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000026 | Male hypogonadism | |
| HP:0002354 | Memory impairment | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0007663 | Reduced visual acuity | |
| HP:0001250 | Seizure | |
| HP:0000736 | Short attention span | |
| HP:0001285 | Spastic tetraparesis | |
| HP:0030222 | Visual agnosia | |
| Very rare (<4-1%) | ||
| HP:0000618 | Blindness | |
| HP:0002540 | Inability to walk | |
| HP:0031358 | Vegetative state | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 22889154[PMID]_32953324[PMID]_25115486[PMID]_22889154[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139396
- This record as JSON: /data/d/139396.json