CLN3 disease
Synonyms: Neuronal ceroid lipofuscinosis type 3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare neuronal ceroid lipofuscinosis characterized by juvenile or protracted juvenile-onset progressive vision loss due to retinal degeneration/retinopathy (which in several patients may precede the onset of neurological symptoms by some years), seizures, progressive cognitive impairment with a precipitous decline to dementia, progressive motor decline with cerebellar, pyramidal and extrapyramidal features. Associated systemic features may include cardiac abnormalities (including conduction abnormalities, ventricular hypertrophy, atrial flutter/fibrillation and symptomatic bradycardia) and autophagic vacuolar myopathy. Seizures in juvenile-onset (also known as the classic form of the disease) patients, develop typically within 2-4 years of the onset of visual deterioration. In protracted form, characterized by combined focal and generalized epilepsy syndrome and progressive neurologic deterioration, seizures and other neurological manifestations appear significantly later compared to classic form and symptoms are milder. This is the most common form of ceroid lipofuscinosis and is widespread across Western countries.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CLN3 disease | Neuronal ceroid lipofuscinosis type 3 |
| fr | Maladie CLN3 | Céroïde lipofuscinose neuronale de type 3 · NCL3 |
| de | CLN3-Krankheit | Ceroid-Lipofuszinose, neuronale, Typ 3 · NCL3 |
| es | Enfermedad CLN3 | Lipofuscinosis ceroidea neuronal tipo 3 |
| it | Malattia CLN3 | CLN giovanile classica · Ceroidolipofuscinosi neuronale giovanile classica · Ceroidolipofuscinosi neuronale tipo 3 · Malattia di Batten-Spielmeyer-Vogt-Sjögren |
| nl | CLN3-ziekte | NCL3 · Neuronale ceroïdlipofuscinose type 3 |
| pt | CLN3 disease | Lipofuscinose ceroide neuronal tipo 3 |
| pl | WYCOFANA: Choroba CLN3 | = en |
| cs | Neuronální ceroidlipofuscinosa, typ 3 | Onemocnění CLN3 |
| uk | Хвороба CLN3 | Хвороба Баттена-Шпільмаєра-Фогта-Шьогрена · Класичний ювенільний NCL · Класичний ювенільний нейрональний цероїдний ліпофусциноз · Нейрональний цероїдний ліпофусциноз типу 3 |
| zh | 神经元蜡样脂褐质沉积症3型 | 典型青少年神经元蜡样脂褐质沉积症 |
| tr | CLN3 hastalığı | Klasik jüvenil NCL · Klasik jüvenil nöronal seroid lipofuksinoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607042 | E | validated | |
| ICD-10 | E75.4 | NTBT | attributed | validated |
| ICD-11 | 5C56.1 | NTBT | attributed | validated |
| MONDO | 8767 | E | validated | |
| UMLS | C0751383 | 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:216Neuronal ceroid lipofuscinosis
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CLN3 | ORPHA:699780Juvenile CLN3 disease | Disease-causing germline mutation(s) in | Assessed | HGNC:2074 | ENSG00000188603 | 607042 | 16p12.1 | CLN3 lysosomal/endosomal transmembrane protein, battenin | 15965709[PMID] |
| CLN3 | ORPHA:699796Protracted juvenile CLN3 disease | Disease-causing germline mutation(s) in | Assessed | HGNC:2074 | ENSG00000188603 | 607042 | 16p12.1 | CLN3 lysosomal/endosomal transmembrane protein, battenin | 15965709[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 400 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/228346
- This record as JSON: /data/d/228346.json