Pontine autosomal dominant microangiopathy with leukoencephalopathy
Synonyms: PADMAL
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontine autosomal dominant microangiopathy with leukoencephalopathy | PADMAL |
| fr | Microangiopathie cérébrale pontine autosomique dominante | Microangiopathie cérébrale pontine autosomique dominante avec leucoencéphalopathie · PADMAL |
| de | Pontine autosomal-dominante Mikroangiopathie mit Leukoenzephalopathie | = en |
| es | Microangiopatía pontina autosómica dominante con leucoencefalopatía | = en |
| it | Microangiopatia pontina autosomica dominante con leucoencefalopatia | |
| nl | Pontiene autosomaal dominante microangiopathie met leuko-encefalopathie | = en |
| pt | Microangiopatia pontica autossómica dominante com leucoencefalopatia | |
| pl | Autosomalna dominująca mikroangiopatia mostu z leukoencefalopatią | = en |
| cs | Autozomálně dominantní pontinní mikroangiopatie s leukoencefalopatií | = en |
| uk | Понтинна аутосомно-домінантна мікроангіопатія з лейкоенцефалопатією | = en |
| zh | 常染色体显性脑桥微血管病合并白质病 | = en |
| tr | Ökoensefalopati ile seyreden pontin otozomal dominant mikroanjiyopati | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618564 | E | validated | |
| ICD-10 | I67.8 | NTBT | attributed | validated |
| MONDO | 0032814 | E | validated | |
| UMLS | C5231411 | 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:477762COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL4A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2202 | ENSG00000187498 | 120130 | 13q34 | collagen type IV alpha 1 chain | 27666438[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 19187480[PMID]_27666438[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19187480[PMID]_27666438[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/477749
- This record as JSON: /data/d/477749.json