ORPHA:43
X-linked adrenoleukodystrophy
Synonyms: ALD · X-ALD · X-linked ALD
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked adrenoleukodystrophy | ALD · X-ALD · X-linked ALD |
| fr | Adrénoleucodystrophie liée à l'X | ALD · ALD liée à l'X · X-ALD |
| de | Adrenoleukodystrophie, X-chromosomale | X-ALD · ALD · ALD, X-chromosomale |
| es | Adrenoleucodistrofia ligada al cromosoma X | ALD · ALD ligada al cromosoma X · X-ALD |
| it | Adrenoleucodistrofia legata all'X | ALD · ALD legata all'X · X-ALD |
| nl | X-gebonden adrenoleukodystrofie | ALD · X-ALD · X-gebonden ALD |
| pt | Adrenoleucodistrofia ligada ao X | ALD · ALD ligada ao X · X-ALD |
| pl | Adrenoleukodystrofia sprzężona z chromosomem X | ALD · ALD sprzężona z chromosomem X · X-ALD |
| cs | X-vázaná adrenoleukodystrofie | ALD · X-ALD · X-vázaná ALD |
| uk | Х-зчеплена адренолейкодистрофія | ALD · X-ALD · Х-зчеплений АЛД |
| zh | X连锁肾上腺脑白质营养不良 | X连锁肾上腺脑白质营养不良 |
| tr | X'e bağlı adrenolökodistrofi | ALD · X-ALD · X-ilişkili ALD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300100 | E | validated | |
| OMIM | 302700 | BTNT | validated | |
| ICD-10 | E71.3 | NTBT | inclusion | validated |
| ICD-11 | 5C57.1 | NTBT | index | validated |
| MeSH | D000326 | E | validated | |
| UMLS | C0162309 | E | validated | |
| GARD | 5758 | E | validated | |
| MedDRA | 10051260 | 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 (9):
- ORPHA:101960Genetic chronic primary adrenal insufficiency
rare genetic diseases; rare endocrine diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:98543Metabolic disease with dementia
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:79188Peroxisomal beta-oxidation disorder
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders - ORPHA:225686Peroxisomal disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:181441Rare disorder with hypergonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
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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 |
|---|---|---|---|---|---|---|---|---|---|
| ABCD1 | ORPHA:139396X-linked cerebral adrenoleukodystrophy | Disease-causing germline mutation(s) in | Assessed | HGNC:61 | ENSG00000101986 | 300371 | Xq28 | ATP binding cassette subfamily D member 1 | 20301491[PMID] |
| ABCD1 | ORPHA:139399Adrenomyeloneuropathy | 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
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.8 / 100 000 | Norway | Value and class | Validated | 23419472[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 2.0639 / 100 000 | United States | Value and class | Validated | 31074578[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.8 / 100 000 | Israel | Value and class | Validated | 33239050[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
36 annotations · validated 2017-04-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0000504 | Abnormality of vision | |
| HP:0007018 | Attention deficit hyperactivity disorder | Diagnostic criterion |
| HP:0000708 | Atypical behavior | |
| HP:0002312 | Clumsiness | |
| HP:0100543 | Cognitive impairment | |
| HP:0000726 | Dementia | |
| HP:0004302 | Functional motor deficit | |
| HP:0001288 | Gait disturbance | |
| HP:0002315 | Headache | |
| HP:0000752 | Hyperactivity | |
| HP:0002311 | Incoordination | |
| HP:0001249 | Intellectual disability | |
| HP:0008969 | Leg muscle stiffness | |
| HP:0002385 | Paraparesis | |
| HP:0001730 | Progressive hearing impairment | |
| HP:0007199 | Progressive spastic paraparesis | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0001328 | Specific learning disability | |
| HP:0000505 | Visual impairment | |
| HP:0000572 | Visual loss | |
| Frequent (79-30%) | ||
| HP:0011733 | Abnormality of adrenal physiology | |
| HP:0000846 | Adrenal insufficiency | |
| HP:0000718 | Aggressive behavior | |
| HP:0002381 | Aphasia | |
| HP:0000734 | Disinhibition | |
| HP:0001269 | Hemiparesis | |
| HP:0008768 | Inappropriate sexual behavior | |
| HP:0003154 | Increased circulating ACTH level | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0000011 | Neurogenic bladder | |
| HP:0002839 | Urinary bladder sphincter dysfunction | |
| HP:0001123 | Visual field defect | |
| Occasional (29-5%) | ||
| HP:0000651 | Diplopia | |
| HP:0000802 | Impotence | |
| HP:0003470 | Paralysis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301491[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/43
- This record as JSON: /data/d/43.json