ORPHA:99853
Ovarioleukodystrophy
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
This disease is described under CACH syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ovarioleukodystrophy | |
| fr | Ovarioleucodystrophie | |
| de | Ovarioleukodystrophie | |
| es | Ovarioleucodistrofia | |
| it | Ovaioleucodistrofia | |
| nl | Ovarioleukodystrofie | |
| pt | Ovarioleucodistrofia | |
| pl | Leukodystrofia z niedoczynnością jajników / Owarioleukodystrofia | |
| cs | Ovarioleukodystrofie | |
| uk | Оваріолейкодистрофія | |
| zh | 卵巢-脑白质营养不良症 | |
| tr | Yumurtalık lökodistrofisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603896 | NTBT | validated | |
| OMIM | 615889 | BTNT | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 8A44.3 | NTBT | index | validated |
| UMLS | C1847967 | E | validated | |
| MedDRA | 10089277 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:135CACH syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AARS2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21022 | ENSG00000124608 | 612035 | 6p21.1 | alanyl-tRNA synthetase 2, mitochondrial | 24808023[PMID] |
| EIF2B1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3257 | ENSG00000111361 | 606686 | 12q24.31 | eukaryotic translation initiation factor 2B subunit alpha | 20301435[PMID]_15136673[PMID] |
| EIF2B2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3258 | ENSG00000119718 | 606454 | 14q24.3 | eukaryotic translation initiation factor 2B subunit beta | 20301435[PMID]_15136673[PMID] |
| EIF2B3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3259 | ENSG00000070785 | 606273 | 1p34.1 | eukaryotic translation initiation factor 2B subunit gamma | 20301435[PMID]_15136673[PMID] |
| EIF2B4 | Disease-causing germline mutation(s) in | Assessed | HGNC:3260 | ENSG00000115211 | 606687 | 2p23.3 | eukaryotic translation initiation factor 2B subunit delta | 20301435[PMID]_15136673[PMID] |
| EIF2B5 | Disease-causing germline mutation(s) in | Assessed | HGNC:3261 | ENSG00000145191 | 603945 | 3q27.1 | eukaryotic translation initiation factor 2B subunit epsilon | 20301435[PMID]_15136673[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 24808023[PMID]_12707859[PMID]_9153528[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24808023[PMID]_12707859[PMID]_9153528[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99853
- This record as JSON: /data/d/99853.json