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Advance sleep phase syndrome, familial, 4(FASPS4)

MedGen UID:
1823977
Concept ID:
C5774204
Disease or Syndrome
Synonym: FASPS4
 
Gene (location): TIMELESS (12q13.3)
 
Monarch Initiative: MONDO:0031044
OMIM®: 620015

Definition

Familial advanced sleep phase syndrome-4 (FASPS4) is an autosomal dominant condition in which individuals wake and sleep early (summary by Kurien et al., 2019). For a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 (604348). [from OMIM]

Clinical features

From HPO
Early chronotype
MedGen UID:
1646349
Concept ID:
C4703587
Finding
A tendency towards rising very early in the morning and going to bed early in the evening.

Recent clinical studies

Diagnosis

Hoang N, Yuen RKC, Howe J, Drmic I, Ambrozewicz P, Russell C, Vorstman J, Weiss SK, Anagnostou E, Malow BA, Scherer SW
Am J Med Genet A 2021 Apr;185(4):1120-1130. Epub 2021 Jan 20 doi: 10.1002/ajmg.a.62086. PMID: 33474825
Labyak S
Nurs Clin North Am 2002 Dec;37(4):599-610, v. doi: 10.1016/s0029-6465(02)00036-1. PMID: 12587363

Clinical prediction guides

Satoh K, Mishima K, Inoue Y, Ebisawa T, Shimizu T
Sleep 2003 Jun 15;26(4):416-7. doi: 10.1093/sleep/26.4.416. PMID: 12841366

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