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 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

UMLS via Orphanet 72 C0008489
Orphanet 58 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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FRRS1L NM_014334.3(FRRS1L):c.436dup (p.Ile146fs)duplication Pathogenic 218154 rs878853283 9:111911956-111911956 9:109149676-109149676
2 FRRS1L NM_014334.3(FRRS1L):c.961C>T (p.Gln321Ter)SNV Pathogenic 218151 rs878853280 9:111899809-111899809 9:109137529-109137529
3 FRRS1L NM_014334.3(FRRS1L):c.845G>A (p.Trp282Ter)SNV Pathogenic 218152 rs878853281 9:111903640-111903640 9:109141360-109141360
4 FRRS1L NM_014334.3(FRRS1L):c.737_739del (p.Gly246del)deletion Pathogenic/Likely pathogenic 218153 rs878853282 9:111903746-111903748 9:109141466-109141468
5 SLC9A6 NM_001042537.1(SLC9A6):c.1728-19_1728-3deldeletion Likely pathogenic 598968 rs1569525894 X:135122216-135122232 X:136040057-136040073
6 PCDH19 NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys)SNV Uncertain significance 159556 rs376390125 X:99657779-99657779 X:100402781-100402781
7 DNMT1 NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu)SNV Uncertain significance 373927 rs1057518774 19:10259562-10259562 19:10148886-10148886
8 CACNA1A NM_001127221.1(CACNA1A):c.2396A>T (p.Asp799Val)SNV Uncertain significance 397544 rs1060499675 19:13410054-13410054 19:13299240-13299240
9 CASR NM_000388.4(CASR):c.1609-27C>TSNV Uncertain significance 598997 3:122000933-122000933 3:122282086-122282086
10 TRH NM_007117.5(TRH):c.25G>A (p.Ala9Thr)SNV Uncertain significance 598998 3:129694684-129694684 3:129975841-129975841
11 DNMT1 NM_001130823.3(DNMT1):c.3362G>T (p.Ser1121Ile)SNV Uncertain significance 599001 rs1202584286 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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