RLS1
MCID: RST012
MIFTS: 22

Restless Legs Syndrome 1 (RLS1)

Categories: Rare diseases

Aliases & Classifications for Restless Legs Syndrome 1

MalaCards integrated aliases for Restless Legs Syndrome 1:

Name: Restless Legs Syndrome 1 57 13 73
Restless Legs Syndrome, Susceptibility to, 1 57 53
Ekbom Syndrome 57 76
Rls1 57 53
Acromelalgia, Hereditary 57
Restless Legs Syndrome 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood, adolescence, and adulthood
usually progressive
affects up to 10% of the population
associated with iron deficiency anemia
associated with hemodialysis
genetic heterogeneity (see rls2, )


HPO:

32
restless legs syndrome 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 102300
MedGen 42 C1876177
UMLS 73 C3888109

Summaries for Restless Legs Syndrome 1

OMIM : 57 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). (102300)

MalaCards based summary : Restless Legs Syndrome 1, also known as restless legs syndrome, susceptibility to, 1, is related to restless legs syndrome and restless legs syndrome 2, and has symptoms including back pain, headache and pain. An important gene associated with Restless Legs Syndrome 1 is RLS1 (Restless Legs Syndrome, Susceptibility To). Related phenotypes are myoclonus and paresthesia

Related Diseases for Restless Legs Syndrome 1

Diseases related to Restless Legs Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 restless legs syndrome 11.7
2 restless legs syndrome 2 10.9
3 restless legs syndrome 3 10.9
4 restless legs syndrome 4 10.9
5 restless legs syndrome 6 10.9
6 restless legs syndrome 5 10.9
7 restless legs syndrome 7 10.9
8 restless legs syndrome 8 10.9

Graphical network of the top 20 diseases related to Restless Legs Syndrome 1:



Diseases related to Restless Legs Syndrome 1

Symptoms & Phenotypes for Restless Legs Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
myoclonus
irresistible desire to move the legs
upper extremities may be involved
associated with paresthesias and dysesthesias
relief with motor activation
more
Laboratory Abnormalities:
decreased csf ferritin despite normal serum ferritin levels
increased csf transferrin despite normal serum transferrin levels

Muscle Soft Tissue:
leg cramps may occur with exercise


Clinical features from OMIM:

102300

Human phenotypes related to Restless Legs Syndrome 1:

32
# Description HPO Frequency HPO Source Accession
1 myoclonus 32 HP:0001336
2 paresthesia 32 HP:0003401
3 exercise-induced leg cramps 32 HP:0008991
4 restless legs 32 HP:0012452
5 insomnia 32 HP:0100785

UMLS symptoms related to Restless Legs Syndrome 1:


back pain, headache, pain, sciatica, seizures, sleep disturbances, snoring, syncope, tremor, chronic pain, vertigo/dizziness, excessive daytime somnolence, sleeplessness

Drugs & Therapeutics for Restless Legs Syndrome 1

Search Clinical Trials , NIH Clinical Center for Restless Legs Syndrome 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Restless Legs Syndrome 1

Anatomical Context for Restless Legs Syndrome 1

Publications for Restless Legs Syndrome 1

Articles related to Restless Legs Syndrome 1:

# Title Authors Year
1
Normal pressure hydrocephalus following Ekbom syndrome. ( 25716515 )
2015
2
Ekboms syndrome (restless legs syndrome): 2 case report and literature review. ( 23311203 )
2012

Variations for Restless Legs Syndrome 1

Expression for Restless Legs Syndrome 1

Search GEO for disease gene expression data for Restless Legs Syndrome 1.

Pathways for Restless Legs Syndrome 1

GO Terms for Restless Legs Syndrome 1

Sources for Restless Legs Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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