ORPHA:164736
Familial advanced sleep-phase syndrome
Synonyms: FASPS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare genetic neurological disorder characterized by very early sleep onset and offset. Plasma melatonin levels and body core temperature rhythms are also phase-advanced. The sleep-wake cycle is generally shortened. Additional reported features include migraine with or without aura and seasonal affective disorder.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial advanced sleep-phase syndrome | FASPS |
| fr | Syndrome d'avance de phase du sommeil | |
| de | Familiäres vorverlagertes Schlafphasensyndrom | = en |
| es | Síndrome familiar de fase avanzada del sueño | |
| it | Sindrome familiare da anticipazione del sonno | |
| nl | Familiaal geavanceerde slaapfase-syndroom | = en |
| pt | Síndrome familiar da fase avançada do sono | |
| pl | Rodzinny zespół zaawansowanej fazy snu | = en |
| cs | Dědičný syndrom rozvinuté spánkové fáze | = en |
| uk | Сімейний синдром розширеної фази сну | = en |
| zh | 家族性睡眠时相延迟综合征 | = en |
| tr | Ailesel ileri uyku fazı sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604348 | E | validated | |
| OMIM | 615224 | BTNT | validated | |
| OMIM | 616882 | BTNT | validated | |
| OMIM | 620015 | BTNT | validated | |
| ICD-10 | G47.2 | NTBT | attributed | validated |
| ICD-11 | 7A6Z | NTBT | index | validated |
| MONDO | 15609 | E | validated | |
| MeSH | C565789 | E | validated | |
| UMLS | C1858496 | E | validated | |
| GARD | 9242 | 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 (2):
- ORPHA:71859Rare genetic neurological disorder
rare genetic diseases - ORPHA:68354Rare sleep disorder
rare neurological diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CSNK1D | Disease-causing germline mutation(s) in | Assessed | HGNC:2452 | ENSG00000141551 | 600864 | 17q25.3 | casein kinase 1 delta | 15800623[PMID] |
| PER2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8846 | ENSG00000132326 | 603426 | 2q37.3 | period circadian regulator 2 | 11232563[PMID] |
| PER3 | Disease-causing germline mutation(s) in | Assessed | HGNC:8847 | ENSG00000049246 | 603427 | 1p36.23 | period circadian regulator 3 | 26903630[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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/164736
- This record as JSON: /data/d/164736.json