Dermatoleukodystrophy
Synonyms: Cutis laxa-leukodystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dermatoleukodystrophy | Cutis laxa-leukodystrophy |
| fr | Dermatoleucodystrophie | Cutis laxa-leucodystrophie |
| de | Dermatoleukodystrophie | Cutis laxa-Leukodystrophie |
| es | Dermatoleucodistrofia | Cutis laxa-leucodistrofia |
| it | Dermatoleucodistrofia | |
| nl | Dermatoleukodystrofie | Cutis laxa-leukodystrofie |
| pt | Dermatoleucodistrofia | |
| pl | Dermatoleukodystrofia | = en |
| cs | Dermatoleukodystrofie | = en |
| uk | Дерматолейкодистрофія | лейкодистрофія Cutis laxa |
| zh | 皮肤脑白质营养不良 | 皮肤松弛-脑白质营养不良 |
| tr | Dermatolökodistrofi | Kutis laksa-lökodistrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 221790 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| MONDO | 0009093 | E | validated | |
| MeSH | C538220 | E | validated | |
| UMLS | C1857314 | E | validated | |
| GARD | 1813 | 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 (2):
- ORPHA:228215Genetic dermis elastic tissue disorder
rare genetic diseases; rare skin diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 655904[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_655904[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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012639 | Abnormal nervous system morphology | |
| HP:0000962 | Hyperkeratosis | |
| HP:0001249 | Intellectual disability | |
| HP:0001072 | Thickened skin | |
| Frequent (79-30%) | ||
| HP:0001347 | Hyperreflexia | |
| HP:0001315 | Reduced tendon reflexes | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1659
- This record as JSON: /data/d/1659.json