RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1

General Information (adopted from Orphanet):

Synonyms, Signs: EKBOM SYNDROME
ACROMELALGIA, HEREDITARY
RLS1
Number of Symptoms 18
OrphanetNr:
OMIM Id: 102300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003401) Paresthesia 42 / 7739
2
(HPO:0001336) Myoclonus 115 / 7739
3
(HPO:0012452) Restless legs 2 / 7739
4
(HPO:0100785) Insomnia 18 / 7739
5
(HPO:0008991) Exercise-induced leg cramps 1 / 7739
6
(OMIM) Usually occurs at night 1 / 7739
7
(OMIM) Upper extremities may be involved 1 / 7739
8
(OMIM) Increased CSF transferrin despite normal serum transferrin levels 1 / 7739
9
(OMIM) Decreased CSF ferritin despite normal serum ferritin levels 1 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(OMIM) Symptoms occur at rest 1 / 7739
12
(OMIM) Associated with paresthesias and dysesthesias 1 / 7739
13
(OMIM) Symptoms are exacerbated during pregnancy 1 / 7739
14
(OMIM) Relief with motor activation 1 / 7739
15
(OMIM) Results in nocturnal insomnia and chronic sleep deprivation 1 / 7739
16
(OMIM) Decreased iron content in the substantia nigra 1 / 7739
17
(OMIM) Leg cramps may occur with exercise 1 / 7739
18
(OMIM) Irresistible desire to move the legs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Ekbom (1945) first described restless legs syndrome. Affected persons experience paresthesias in the legs when first going to bed or sitting still for a time and cannot resist fidgeting with their feet. Huizinga (1957) described a family with ...
Molecular genetics OMIM Pichler et al. (2008) provided a detailed review of the genetics of RLS.

- Modifier Genes

Pharmacotherapy and brain imaging studies have suggested that the dopaminergic system plays a role in the pathogenesis of ...