ORPHA:3240
Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
Synonyms: Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- No data available
- Status
- active
A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome | Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome |
| fr | Syndrome de leucoencéphalopathie progressive à début précoce-calcifications du système nerveux central-surdité-cécité | Syndrome de leucoencéphalopathie progressive à début précoce-calcification du système nerveux central-perte auditive-cécité |
| de | Früh einsetzende progrediente Leukoenzephalopathie-ZNS-Kalzifikation-Schwerhörigkeit-Sehstörung-Syndrom | Syndrom der früh einsetzenden progredienten Leukoenzephalopathie mit ZNS-Verkalkung, Schwerhörigkeit und Sehbeeinträchtigung |
| es | Síndrome de leucoencefalopatía progresiva de inicio precoz-calcificación del sistema nervioso central-sordera-deficiencia visual | Síndrome de leucoencefalopatía progresiva de inicio precoz-calcificación del sistema nervioso central-hipoacusia-deficiencia visual |
| it | Sindrome leucoencefalopatia progressiva ad esordio precoce-calcificazioni del sistema nervoso centrale- sordità-deficit visivo | Sindrome leucoencefalopatia progressiva ad esordio precoce-calcificazioni del sistema nervoso centrale-perdita dell'udito-deficit visivo |
| nl | Vroeg optredende progressieve leuko-encefalopathie - calcificatie van centraal zenuwstelsel - doofheid - visuele stoornis-syndroom | Vroeg optredende progressieve leuko-encefalopathie - calcificatie van centraal zenuwstelsel - gehoorverlies - visuele stoornis-syndroom |
| pt | Síndrome de leucoencefalopatia progressiva de início precoce-calcificação do sistema nervoso central-surdez-deficiência visual | Síndrome de leucoencefalopatia progressiva de início precoce-calcificação do sistema nervoso central-perda auditiva-deficiência visual |
| pl | Zwapnienia centralnego układu nerwowego - głuchota - kwasica kanalikowa - niedokrwistość | Zespół Yoshimura i Takeshita · Zespół zwapnienia ośrodkowego układu nerwowego-głuchoty-kwasicy cewkowej-niedokrwistości · Zespół postępującej leukoencefalopatii – zwapnienia ośrodkowego układu nerwowego – głuchoty – zaburzenia widzenia o wczesnym początku |
| cs | Syndrom zahrnující kalcifikaci centrálního nervového systému, hluchotu, tubulární acidózu a anémii | Yoshimurův-Takeshitův syndrom · Yoshimura-Takeshitův syndrom |
| uk | Синдром ранньої прогресуючої лейкоенцефалопатії - кальцифікації центральної нервової системи-глухоти-порушення зору | Синдром ранньої прогресуючої лейкоенцефалопатії - кальцифікації центральної нервової системи - втрати слуху - порушення зору |
| zh | 中枢神经系统钙化-耳聋-肾小管酸中毒-贫血综合征 | Yoshimura-Takeshita综合征 |
| tr | Merkezi sinir sistemi kireçlenmesi-sağırlık-tübüler asidoz-anemi sendromu | Merkezi sinir sistemi kireçlenmesi-işitme kaybı-tübüler asidoz-anemi sendromu · Yoshimura-Takeshita sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619147 | E | validated | |
| ICD-10 | G93.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0017924 | E | validated | |
| UMLS | C5925004 | 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 (4):
- ORPHA:696870Common variable immunodeficiency phenotype due to germinal monogenic mutation
rare genetic diseases; rare immunological diseases - ORPHA:314822Primary renal tubular acidosis
rare genetic diseases; rare renal diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6215 | ENSG00000065427 | 601421 | 16q23.1 | lysyl-tRNA synthetase 1 | 28887846[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 9112970[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9112970[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
23 annotations · validated 2019-03-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0004463 | Absent brainstem auditory responses | |
| HP:0001344 | Absent speech | |
| HP:0001047 | Atopic dermatitis | |
| HP:0008936 | Axial hypotonia | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002376 | Developmental regression | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0002171 | Gliosis | |
| HP:0001510 | Growth delay | |
| HP:0002599 | Head titubation | |
| HP:0001347 | Hyperreflexia | |
| HP:0004840 | Hypochromic microcytic anemia | |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0001250 | Seizure | |
| HP:0002510 | Spastic tetraplegia | |
| HP:0007346 | Subcortical white matter calcifications | |
| HP:0008568 | Vestibular areflexia | |
| Occasional (29-5%) | ||
| HP:0002014 | Diarrhea | |
| HP:0002878 | Respiratory failure | |
| HP:0001873 | Thrombocytopenia | |
| HP:0002013 | Vomiting | |
| Excluded (0%) | ||
| HP:0001332 | Dystonia | |
| HP:0011002 | Osteopetrosis | |
Annotation source: 9112970[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3240
- This record as JSON: /data/d/3240.json