Early-onset calcifying leukoencephalopathy-skeletal dysplasia
Synonyms: BANDDOS · Brain abnormalities-neurodegeneration-dysosteosclerosis disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Antenatal, Childhood
- Status
- active
A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | BANDDOS · Brain abnormalities-neurodegeneration-dysosteosclerosis disease |
| fr | Leucoencéphalopathie calcifiante-dysplasie squelettique à début précoce | |
| de | Früh-einsetzende kalzifizierende Leukenzephalopathie mit Skelettdysplasie | BANDDOS · Gehirnanomalien mit Neurodegeneration und Dysosteosklerose |
| es | Leucoencefalopatía calcificante-displasia esquelética de inicio precoz | BANDDOS · Enfermedad de anomalías cerebrales-neurodegeneración-disosteosclerosis |
| it | Leucoencefalopatia calcificante a esordio precoce-displasia scheletrica | |
| nl | Vroeg optredende calcificerende leuko-encefalopathie - skeletdysplasie | BANDDOS · Hersenafwijkingen - neurodegeneratie - dysosteosclerose-ziekte |
| pt | Leucoencefalopatia calcificante de início precoce-displasia esquelética | Anomalias cerebrais-neurodegeneração-doença disosteosclerótica · BANDDOS |
| pl | Leukoencefalopatia o wczesnym początku ze zwapnieniami i dysplazją szkieletową | = en |
| cs | Kalcifikující leukoencefalopatie s časným nástupem a kostní dysplázií | = en |
| uk | Рання кальцифікуюча лейкоенцефалопатія-скелетна дисплазія | |
| zh | 早发性钙化脑白质病-骨骼发育不良 | |
| tr | Erken başlangıçlı kalsifiye lökoensefalopati-iskelet displazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618476 | E | validated | |
| ICD-10 | G93.4 | NTBT | attributed | validated |
| MONDO | 0034143 | E | validated | |
| UMLS | C5681333 | 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 (4):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare transplant-related disorders - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CSF1R | Disease-causing germline mutation(s) in | Assessed | HGNC:2433 | ENSG00000182578 | 164770 | 5q32 | colony stimulating factor 1 receptor | 30982608[PMID]_30982609[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30982608[PMID]_30982609[PMID]_28383543[PMID] |
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 30982608[PMID]_30982609[PMID]_28383543[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/556985
- This record as JSON: /data/d/556985.json