Leukoencephalopathy-palmoplantar keratoderma syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leukoencephalopathy-palmoplantar keratoderma syndrome | |
| fr | Syndrome de leucoencéphalopathie-kératose palmoplantaire | |
| de | Leukoenzephalopathie - Palmoplantarkeratose | |
| es | Síndrome de leucoencefalopatía-queratodermia palmoplantar | |
| it | Sindrome da leucoencefalopatia e cheratoderma plantare | |
| nl | Leuko-encefalopathie - palmoplantaire keratodermie-syndroom | |
| pt | Síndrome de leucoencefalopatia-queratodermia palmoplantar | |
| pl | Zespół leukoencefalopatii i rogowca dłoni i stóp | |
| cs | Syndrom zahrnující leukoencefalopatii a palmoplantární keratoderma | |
| uk | Синдром лейкоенцефалопатії-пальмоплантарної кератодермії | |
| zh | 脑白质病-掌跖皮肤角化病综合征 | |
| tr | Lökoensefalopati-palmoplantar keratoderma sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.32 | NTBT | attributed | validated |
| MONDO | 0016545 | E | validated | |
| UMLS | C4749769 | E | validated | |
| GARD | 3232 | 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:308041Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin 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 | 4 cases | Worldwide | Case(s) | Validated | 7854535[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7854535[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
16 annotations · validated 2016-06-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0001276 | Hypertonia | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| HP:0002317 | Unsteady gait | |
| Very frequent (99-80%) | ||
| HP:0000726 | Dementia | |
| HP:0010845 | EEG with generalized slow activity | |
| HP:0002200 | Pseudobulbar signs | |
| HP:0002273 | Tetraparesis | |
| Frequent (79-30%) | ||
| HP:0002312 | Clumsiness | |
| HP:0100252 | Diaphyseal dysplasia | |
| HP:0001324 | Muscle weakness | |
| HP:0200034 | Papule | |
| HP:0001350 | Slurred speech | |
| HP:0030051 | Tip-toe gait | |
| Occasional (29-5%) | ||
| HP:0003380 | Decreased number of peripheral myelinated nerve fibers | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 7854535[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2386
- This record as JSON: /data/d/2386.json