ORPHA:495844
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
Synonyms: C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy · Hypomyelinating leukodystrophy due to hikeshi deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | C11ORF73-related autosomal recessive hypomyelinating leukodystrophy | C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy · Hypomyelinating leukodystrophy due to hikeshi deficiency |
| fr | Leucodystrophie hypomyélinisante autosomique récessive associée à C11ORF73 | Leucodystrophie hypomyélinisante par déficit en hikeshi · Leucoencéphalopathie hypomyélinisante autosomique récessive associée à C11ORF73 |
| de | Hypomyelinisierende Leukodystrophie, autosomal-rezessive, C11ORF73-assoziierte | Hypomyelinisierende Leukodystrophie durch Hikeshi-Mangel · Hypomyelinisierende Leukoenzephalopathie, autosomal-rezessive, C11ORF73-assoziierte |
| es | Leucodistrofia hipomielinizante autosómica recesiva asociada a C11ORF73 | Leucodistrofia hipomielinizante por deficiencia de hikeshi · Leucoencefalopatía hipomielinizante autosómica recesiva asociada a C11ORF73 · Leucoencefalopatía hipomielinizante autosómica recesiva asociada al gen C11ORF73 |
| it | Leucodistrofia ipomielinizzante autosomica recessiva correlata a C11ORF73 | |
| nl | C11ORF73-gerelateerde autosomaal recessieve hypomyeliniserende leukodystrofie | C11ORF73-gerelateerde autosomaal recessieve hypomyeliniserende leuko-encefalopathie · Hypomyeliniserende leukodystrofie als gevolg van hikeshi-deficiëntie |
| pt | Leucodistrofia hipomielinizante autossómica recessiva C11ORF73-relacionada | |
| pl | Leukodystrofia hipomielinizująca autosomalna recesywna związana z C11ORF73 | Leukodystrofia hipomielinizująca z powodu niedoboru hikeshi |
| cs | C11ORF73-vázaná autozomálně recesivní hypomielinizační leukodystrofie | Hypomyelinating leukodystrophy due to hikeshi deficiency · C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy · Hypomyelinizační leukodystrofie způsobená deficitem hikeshi · Autozomálně recesivní hypomyelinizační leukoencefalopatie spojená s C11ORF73 |
| uk | Аутосомно-рецесивна гіпомієлінізуюча лейкодистрофія, повязана з C11ORF73 | Аутосомно-рецесивна гіпомієлінізуюча лейкоенцефалопатія, повязана з C11ORF73 · Гіпомієлінізуюча лейкодистрофія внаслідок дефіциту хікеші |
| zh | C11ORF73相关的常染色体隐性遗传性髓鞘发育不良-脑白质营养不良症 | Hikeshi缺乏导致低髓鞘化脑白质营养不良症 |
| tr | C11ORF73 -ilişkili otozomal resesif hipomiyelinizan lökodistrofi | C11ORF73-ilişkili otozomal çekinik hipomiyelinizan lökoensefalopati · Hikeshi eksikliğine bağlı hipomiyelinizan lökodistrofi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616881 | E | validated | |
| ICD-10 | G93.8 | NTBT | attributed | validated |
| MONDO | 0044642 | E | validated | |
| UMLS | C5567456 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HIKESHI | Disease-causing germline mutation(s) in | Assessed | HGNC:26938 | ENSG00000149196 | 614908 | 11q14.2 | heat shock protein nuclear import factor hikeshi | 26545878[PMID]_28000699[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 26545878[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26545878[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/495844
- This record as JSON: /data/d/495844.json