CLN10 disease
Synonyms: NCL10 · Neuronal ceroid lipofuscinosis type 10
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Antenatal, Infancy
- Status
- active
A rare neuronal ceroid lipofuscinosis characterized by motor, cognitive and developmental regression with speech impairment, ataxia, limb weakness, visual impairment (notably retinitis pigmentosa), dysarthria and prosopagnosia. It may present with congenital (the most commonly observed form of the disease), late infantile (3 years) and juvenile-onset (4-8 years), and later stages into adulthood. Congenital form is associated with immediate postnatal onset of epileptic seizures, respiratory failure and limb hypertonia. Neonates have microcephaly with severe atrophy of the cerebrum and cerebellum with myelin deficiency, and retinal dysfunction.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CLN10 disease | NCL10 · Neuronal ceroid lipofuscinosis type 10 |
| fr | Maladie CLN10 | Céroïde lipofuscinose neuronale de type 10 · NCL10 |
| de | CLN10-Krankheit | Ceroid-Lipofuszinose, neuronale, Typ 10 · NCL10 |
| es | Enfermedad CLN10 | Lipofuscinosis ceroidea neuronal tipo 10 · NCL10 |
| it | Malattia CLN10 | CNCL · Ceroidolipofuscinosi neuronale tipo 10 |
| nl | CLN10-ziekte | NCL10 · Neuronale ceroïdlipofuscinose type 10 |
| pt | Doença CLN10 | Lipofuscinose ceroide neuronal tipo 10 · NCL10 |
| pl | Choroba CLN10 | Niedobór katepsyny D |
| cs | Neuronální ceroidlipofuscinosa, typ 10 | Deficit katepsinu D · Onemocnění CLN10 |
| uk | Хвороба CLN10 | CNCL · Нейрональний цероїдний ліпофусциноз типу 10 |
| zh | 神经元蜡样脂褐质沉积症10型 | 组织蛋白酶缺乏症 |
| tr | CLN10 hastalığı | Katepsin D eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610127 | E | validated | |
| ICD-10 | E75.4 | NTBT | attributed | validated |
| ICD-11 | 5C56.1 | NTBT | index | validated |
| MONDO | 12414 | E | validated | |
| UMLS | C5888338 | 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 · 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 |
|---|---|---|---|---|---|---|---|---|---|
| CTSD | ORPHA:700487Congenital CLN10 disease | Disease-causing germline mutation(s) in | Assessed | HGNC:2529 | ENSG00000117984 | 116840 | 11p15.5 | cathepsin D | 32412666[PMID]_34733232[PMID]_34684815[PMID] |
| CTSD | ORPHA:700492Late infantile CLN10 disease | Disease-causing germline mutation(s) in | Assessed | HGNC:2529 | ENSG00000117984 | 116840 | 11p15.5 | cathepsin D | 32412666[PMID]_34733232[PMID]_34684815[PMID] |
| CTSD | ORPHA:700497Juvenile CLN10 disease | Disease-causing germline mutation(s) in | Assessed | HGNC:2529 | ENSG00000117984 | 116840 | 11p15.5 | cathepsin D | 32412666[PMID]_34733232[PMID]_34684815[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 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/228337
- This record as JSON: /data/d/228337.json