ORPHA:699708
CLN14 disease
Synonyms: NCL14 · Neuronal ceroid lipofuscinosis type 14
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare neuronal ceroid lipofuscinosis characterized by infantile-onset (9-11 months) neurocognitive regression, microcephaly with brain atrophy, myoclonus, vision loss and premature death.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CLN14 disease | NCL14 · Neuronal ceroid lipofuscinosis type 14 |
| fr | Maladie CLN14 | Céroïde lipofuscinose neuronale de type 14 · NCL14 |
| de | CLN14-Krankheit | Ceroid-Lipofuszinose, neuronale, Typ 14 · NCL14 |
| es | Enfermedad CLN14 | Lipofuscinosis ceroidea neuronal tipo 14 · NCL14 |
| it | Malattia CLN14 | NCL14 · Ceroidolipofuscinosi neuronale tipo 14 |
| nl | CLN14-ziekte | NCL14 · Neuronale ceroïdlipofuscinose type 14 |
| pt | CLN14 disease | |
| pl | CLN14 disease | = en |
| cs | CLN14 disease | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611726 | NTBT | validated | |
| ICD-10 | E75.4 | NTBT | attributed | validated |
| ICD-11 | 5C56.1 | NTBT | attributed | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCTD7 | Disease-causing germline mutation(s) in | Assessed | HGNC:21957 | ENSG00000243335 | 611725 | 7q11.21 | potassium channel tetramerization domain containing 7 | 39350080[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 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.
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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/699708
- This record as JSON: /data/d/699708.json