CLN1 disease
Synonyms: Neuronal ceroid lipofuscinosis type 1 · NCL1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare neuronal ceroid lipofuscinosis characterized by developmental delay, psychomotor regression, hypotonia, seizures, ataxia, movement disorders and visual impairment. It may present classically with infantile-onset (6-18 months) however late infantile (18 months-4 years), juvenile (4 years-early adolescence) or adult-onset (mid 20s-mid 30s) have also been described. Disease progression is rapid in both infantile/late infantile onset patients, manifesting with progressive and rapid loss of speech, early cognitive and motor decline, impaired gait function, myoclonus, vision loss (observed bit later in late infantile form) and brain atrophy. Infantile form is characterized by a short lifespan preceeded by a relatively long steady progression following the rapid decline. Disease progression is slow in juvenile-onset and protracted in adult-onset patients. Psychosis in juvenile-onset patients, depression and parkinsonism in adult-onset patients are reported in addition to the common clinical symptoms.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CLN1 disease | Neuronal ceroid lipofuscinosis type 1 · NCL1 |
| fr | Maladie CLN1 | Céroïde lipofuscinose neuronale de type 1 · NCL1 |
| de | CLN1-Krankheit | Ceroid-Lipofuszinose, neuronale, Typ 1 · NCL1 |
| es | Enfermedad CLN1 | Lipofuscinosis ceroidea neuronal tipo 1 · NCL1 |
| it | Malattia CLN1 | Ceroidolipofuscinosi neuronale tipo 1 · Malattia di Haltia-Santavuori |
| nl | CLN1-ziekte | NCL1 · Neuronale ceroïdlipofuscinose type 1 |
| pt | Doença CLN1 | Lipofuscinose ceroide neuronal tipo 1 · NCL1 |
| pl | Choroba CLN1 | = en |
| cs | Neuronální ceroidlipofuscinosa, typ 1 | Onemocnění CLN1 |
| uk | Хвороба CLN1 | Хвороба Халтії-Сантавуорі · Нейрональний цероїдний ліпофусциноз типу 1 |
| zh | 神经元蜡样脂褐质沉积症1型 | |
| tr | CLN1 hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256730 | E | validated | |
| ICD-10 | E75.4 | NTBT | attributed | validated |
| ICD-11 | 5C56.1 | NTBT | attributed | validated |
| MONDO | 9744 | E | validated | |
| UMLS | C0268281 | 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 (2):
- ORPHA:216Neuronal ceroid lipofuscinosis
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders - ORPHA:98261Progressive myoclonic epilepsy
rare genetic diseases; rare neurological diseases
Genes
0 direct · 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| PPT1 | ORPHA:699718Infantile CLN1 disease | Disease-causing germline mutation(s) in | Assessed | HGNC:9325 | ENSG00000131238 | 600722 | 1p34.2 | palmitoyl-protein thioesterase 1 | 32412666[PMID]_34733232[PMID]_7637805[PMID] |
| PPT1 | ORPHA:699734Late infantile CLN1 disease | Disease-causing germline mutation(s) in | Assessed | HGNC:9325 | ENSG00000131238 | 600722 | 1p34.2 | palmitoyl-protein thioesterase 1 | 32412666[PMID]_34733232[PMID]_7637805[PMID] |
| PPT1 | ORPHA:699739Juvenile CLN1 disease | Disease-causing germline mutation(s) in | Assessed | HGNC:9325 | ENSG00000131238 | 600722 | 1p34.2 | palmitoyl-protein thioesterase 1 | 32412666[PMID]_34733232[PMID]_7637805[PMID] |
| PPT1 | ORPHA:699745Adult CLN1 disease | Disease-causing germline mutation(s) in | Assessed | HGNC:9325 | ENSG00000131238 | 600722 | 1p34.2 | palmitoyl-protein thioesterase 1 | 32412666[PMID]_34733232[PMID]_7637805[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 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/228329
- This record as JSON: /data/d/228329.json