MCID: RRC015
MIFTS: 7

Rare Choreic Movement Disorder

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Rare Choreic Movement Disorder

MalaCards integrated aliases for Rare Choreic Movement Disorder:

Name: Rare Choreic Movement Disorder 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

UMLS via Orphanet 73 C0008489
Orphanet 59 ORPHA306715

Summaries for Rare Choreic Movement Disorder

MalaCards based summary : Rare Choreic Movement Disorder An important gene associated with Rare Choreic Movement Disorder is FRRS1L (Ferric Chelate Reductase 1 Like).

Related Diseases for Rare Choreic Movement Disorder

Symptoms & Phenotypes for Rare Choreic Movement Disorder

Drugs & Therapeutics for Rare Choreic Movement Disorder

Search Clinical Trials , NIH Clinical Center for Rare Choreic Movement Disorder

Genetic Tests for Rare Choreic Movement Disorder

Anatomical Context for Rare Choreic Movement Disorder

Publications for Rare Choreic Movement Disorder

Variations for Rare Choreic Movement Disorder

ClinVar genetic disease variations for Rare Choreic Movement Disorder:

6 (show all 11)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FRRS1L NM_014334.3(FRRS1L): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs878853280 9:111899809-111899809 9:109137529-109137529
2 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 9:111903640-111903640 9:109141360-109141360
3 FRRS1L NM_014334.3(FRRS1L): c.436dup (p.Ile146fs) duplication Pathogenic rs878853283 9:111911956-111911956 9:109149676-109149676
4 FRRS1L NM_014334.3(FRRS1L): c.737_739del (p.Gly246del) deletion Pathogenic/Likely pathogenic rs878853282 9:111903746-111903748 9:109141466-109141468
5 SLC9A6 NM_001042537.1(SLC9A6): c.1728-19_1728-3delTCTTCCTTAACCACCGC deletion Likely pathogenic X:135122216-135122232 X:136040057-136040073
6 DNMT1 NM_001130823.3(DNMT1): c.2718C> G (p.Phe906Leu) single nucleotide variant Uncertain significance rs1057518774 19:10259562-10259562 19:10148886-10148886
7 CACNA1A NM_001127221.1(CACNA1A): c.2396A> T (p.Asp799Val) single nucleotide variant Uncertain significance rs1060499675 19:13410054-13410054 19:13299240-13299240
8 PCDH19 NM_001184880.2(PCDH19): c.2359C> T (p.Arg787Cys) single nucleotide variant Uncertain significance rs376390125 X:99657779-99657779 X:100402781-100402781
9 CASR NM_000388.4(CASR): c.1609-27C> T single nucleotide variant Uncertain significance 3:122000933-122000933 3:122282086-122282086
10 TRH NM_007117.5(TRH): c.25G> A (p.Ala9Thr) single nucleotide variant Uncertain significance 3:129694684-129694684 3:129975841-129975841
11 DNMT1 NM_001130823.3(DNMT1): c.3362G> T (p.Ser1121Ile) single nucleotide variant Uncertain significance 19:10251813-10251813 19:10141137-10141137

Expression for Rare Choreic Movement Disorder

Search GEO for disease gene expression data for Rare Choreic Movement Disorder.

Pathways for Rare Choreic Movement Disorder

GO Terms for Rare Choreic Movement Disorder

Sources for Rare Choreic Movement Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
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46 MGI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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