ORPHA:700484
Late infantile CLN8 disease
Synonyms: Late infantile neuronal ceroid lipofuscinosis type 8
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under CLN8 disease
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Late infantile CLN8 disease | Late infantile neuronal ceroid lipofuscinosis type 8 |
| fr | Maladie CLN8 infantile tardive | Céroïde lipofuscinose neuronale infantile tardive type 8 |
| de | CLN8-Krankheit, spät-infantile | Spät-infantile neuronale Ceroid-Lipofuszinose Typ 8 |
| es | Enfermedad CLN8 infantil tardía | Lipofuscinosis ceroidea neuronal infantil tardía tipo 8 |
| it | Malattia CLN8 infantile tardiva | Ceroidolipofuscinosi neuronale infantile tardiva tipo 8 |
| nl | Laat-infantiele CLN8-ziekte | Laat-infantiele neuronale ceroïdlipofuscinose type 8 |
| pt | Late infantile CLN8 disease | |
| pl | Late infantile CLN8 disease | = en |
| cs | Late infantile CLN8 disease | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:228354CLN8 disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLN8 | Disease-causing germline mutation(s) in | Assessed | HGNC:2079 | ENSG00000182372 | 607837 | 8p23.3 | CLN8 transmembrane ER and ERGIC protein | 32412666[PMID]_34733232[PMID]_34684815[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/700484
- This record as JSON: /data/d/700484.json