Restless legs syndrome, susceptibility to, 1

Preferred Label : Restless legs syndrome, susceptibility to, 1;

Symbol : RLS1;

CISMeF acronym : RLS1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Acromelalgia, hereditary; Ekbom syndrome;

Description : Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation (Bonati et al., 2003). - Genetic Heterogeneity of Restless Legs Syndrome RLS1 has been mapped to chromosome 12q. Other susceptibility loci for RLS include RLS2 (608831) on chromosome 14q13-q31; RLS3 (610438) on chromosome 9p24-p22; RLS4 (610439) on chromosome 2q33; RLS5 (611242) on chromosome 20p13; RLS6 (611185) on chromosome 6p21; RLS7 (612853) on chromosome 2p14; and RLS8 (615197) on chromosome 5q31.;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Decreased CSF ferritin despite normal serum ferritin levels; Increased CSF transferrin despite normal serum transferrin levels;

Prefixed ID : %102300;

Details

Origin ID

102300;

UMLS CUI

C1876177;

Automatic exact mappings (from CISMeF team)
- Ekbom syndrome [MedDRA LLT]
Currated CISMeF NLP mapping
- Restless legs syndrome 1 [MeSH concept]
- restless legs syndrome 1 [MeSH Supplementary Concept]
False automatic mappings
- Restless legs (disorder) [SNOMED CT concept]
- restless legs syndrome [MeSH Descriptor]
- restless legs syndrome [MeSH concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Exercise-induced leg cramps [HPO term]
- Heterogeneous [HPO term]
- Insomnia [HPO term]
- Myoclonus [HPO term]
- Paresthesia [HPO term]
- Restless legs [HPO term]
- Sleep disturbance [HPO term]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Restless legs syndrome 1 [MeSH concept]

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