CLN5 disease
Synonyms: NCL5 · Neuronal ceroid lipofuscinosis type 5
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy
- Status
- active
A rare neuronal ceroid lipofuscinosis characterized by developmental and motor delay/regression, psychomotor and cognitive regression, seizures, ataxia, and visual impairment. It may present classically with late infantile-onset, however juvenile or adult-onset has been also described. Patients with late infantile onset have early language and learning impairment whereas loss of vision and seizures appear later. In juvenile onset patients, disease may progress rapidly (not commonly observed); notably vision loss and inability to walk is usually occur within 1 year of the initiation of the symptoms. Seizures can be absent. In the adult onset patients first symptoms become evident around 20 years of age.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CLN5 disease | NCL5 · Neuronal ceroid lipofuscinosis type 5 |
| fr | Maladie CLN5 | Céroïde lipofuscinose neuronale de type 5 · NCL5 |
| de | CLN5-Krankheit | Ceroid-Lipofuszinose, neuronale, Typ 5 · NCL5 |
| es | Enfermedad CLN5 | Lipofuscinosis ceroidea neuronal tipo 5 · NCL5 |
| it | Malattia CLN5 | Ceroidolipofuscinosi neuronale tipo 8 |
| nl | CLN5-ziekte | NCL5 · Neuronale ceroïdlipofuscinose type 5 |
| pt | Doença CLN5 | Lipofuscinose ceroide neuronal tipo 5 · NCL5 |
| pl | Choroba CLN5 | Choroba CLN5 |
| cs | Neuronální ceroidlipofuscinosa, typ 5 | Onemocnění CLN5 |
| uk | Хвороба CLN5 | Нейрональний цероїдний ліпофусциноз 5-го типу · Нейрональний цероїдний ліпофусциноз типу 5 |
| zh | 神经元蜡样脂褐质沉积症5型 | |
| tr | CLN5 hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256731 | E | validated | |
| ICD-10 | E75.4 | NTBT | attributed | validated |
| ICD-11 | 5C56.1 | NTBT | attributed | validated |
| MONDO | 9745 | E | validated | |
| UMLS | C1850442 | 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 · 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| CLN5 | ORPHA:699802Late infantile CLN5 disease | Disease-causing germline mutation(s) in | Assessed | HGNC:2076 | ENSG00000102805 | 608102 | 13q22.3 | CLN5 lysosomal BMP synthase | 2412666[PMID]_34733232[PMID]_34684815[PMID] |
| CLN5 | ORPHA:699807Juvenile CLN5 disease | Disease-causing germline mutation(s) in | Assessed | HGNC:2076 | ENSG00000102805 | 608102 | 13q22.3 | CLN5 lysosomal BMP synthase | 2412666[PMID]_34733232[PMID]_34684815[PMID] |
| CLN5 | ORPHA:699812Adult CLN5 disease | Disease-causing germline mutation(s) in | Assessed | HGNC:2076 | ENSG00000102805 | 608102 | 13q22.3 | CLN5 lysosomal BMP synthase | 2412666[PMID]_34733232[PMID]_34684815[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 85 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/228360
- This record as JSON: /data/d/228360.json