ORPHA:33543
Kleine-Levin syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kleine-Levin syndrome | |
| fr | Syndrome de Kleine-Levin | |
| de | Kleine-Levin-Syndrom | |
| es | Síndrome de Kleine-Levin | |
| it | Sindrome di Kleine-Levin | |
| nl | Syndroom van Kleine-Levin | |
| pt | Síndrome Kleine-Levin | |
| pl | Zespół Kleinego i Levina | |
| cs | Kleineho-Levinův syndrom | Kleine-Levinův syndrom |
| uk | Синдром Клайн-Левіна | |
| zh | 克莱恩-莱文综合征 | |
| tr | Kleine-Levin sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148840 | E | validated | |
| ICD-10 | G47.8 | NTBT | inclusion | validated |
| ICD-11 | 7A22 | E | specific | validated |
| MONDO | 0007863 | E | validated | |
| MeSH | D017593 | E | validated | |
| UMLS | C0206085 | E | validated | |
| GARD | 3117 | E | validated | |
| MedDRA | 10053712 | E | 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:68354Rare sleep disorder
rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRANK1 | Major susceptibility factor in | Assessed | HGNC:29011 | ENSG00000168016 | 619316 | 3p22.2 | tetratricopeptide repeat and ankyrin repeat containing 1 | 33737391[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.18 / 100 000 | France | Value and class | Validated | 25559212[PMID] |
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
35 annotations · validated 2023-02-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0001289 | Confusion | |
| HP:0007200 | Episodic hypersomnia | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0012658 | Abnormal brain FDG positron emission tomography | |
| HP:0100738 | Abnormal eating behavior | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000713 | Agitation | |
| HP:5200321 | Amplification of sexual behavior | |
| HP:0000739 | Anxiety | |
| HP:0000741 | Apathy | |
| HP:0000716 | Depression | |
| HP:0001945 | Fever | |
| HP:0002315 | Headache | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000737 | Irritability | |
| HP:0031249 | Parageusia | |
| HP:0034004 | Parosmia | |
| HP:0000613 | Photophobia | |
| HP:0002591 | Polyphagia | |
| HP:0007057 | Poor hand-eye coordination | |
| HP:0008762 | Repetitive compulsive behavior | |
| HP:0010534 | Transient global amnesia | |
| Occasional (29-5%) | ||
| HP:0000622 | Blurred vision | |
| HP:0046504 | Decreased libido | |
| HP:0000746 | Delusion | |
| HP:5200218 | Derealization | |
| HP:0031217 | Hot flashes | |
| HP:0002519 | Hypnagogic hallucinations | |
| HP:0002300 | Mutism | |
| HP:0002018 | Nausea | |
| HP:0001959 | Polydipsia | |
| HP:0004396 | Poor appetite | |
| HP:0025233 | Sleep paralysis | |
| HP:0001350 | Slurred speech | |
| HP:0030221 | Sweet craving | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 16230322[PMID]_18438947[PMID]_36590182[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/33543
- This record as JSON: /data/d/33543.json