Familial advanced sleep-phase syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
FASPS |
Number of Symptoms | 9 |
OrphanetNr: | 164736 |
OMIM Id: |
604348
615224 |
ICD-10: |
G47.2 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant [Orphanet] |
Age of onset: |
Childhood Adolescent [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Rare genetic neurological disease
-Rare genetic disease Sleep disorder -Rare neurologic disease |
Symptom Information:
|
(HPO:0002360) | Sleep disturbance | Very frequent [Orphanet] | 113 / 7739 | |||
|
(HPO:0002315) | Headache | Occasional [Orphanet] | 175 / 7739 | |||
|
(HPO:0100851) | Abnormal emotion/affect behavior | Frequent [Orphanet] | 85 / 7739 | |||
|
(HPO:0006979) | Sleep-wake cycle disturbance | hallmark [HPO] | 5 / 7739 | |||
|
(HPO:0002027) | Abdominal pain | Occasional [Orphanet] | 184 / 7739 | |||
|
(HPO:0002019) | Constipation | Occasional [Orphanet] | 194 / 7739 | |||
|
(HPO:0002592) | Gastric ulcer | Occasional [Orphanet] | 39 / 7739 | |||
|
(HPO:0002045) | Hypothermia | Very frequent [Orphanet] | 27 / 7739 | |||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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