FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: [D]Sleep disturbances (& [hypersomnia] or [insomnia]) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0947785
Disease: [D]Sleep disturbances (& [hypersomnia] or [insomnia])
[D]Sleep disturbances (& [hypersomnia] or [insomnia]) 		0.010 GeneticVariation phenotype BEFREE Fragile X mental retardation type 1 (FMR1) gene premutation is the first single-gene cause of primary ovarian failure (Fragile X-associated primary ovarian insufficiency [FXPOI]) and one of the most common causes of ataxia (fragile X-associated tremor/ataxia syndrome [FXTAS]), multiple additional phenotypes such as fibromyalgia, hypothyroidism, migraine headaches, sleep disturbances, sleep apnea, restless legs syndrome, central pain syndrome, neuropathy and neuropsychiatric alterations has been described. 28617938 2018