Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Muscle Spasticity (D009128)
Parent Node: Spinocerebellar Ataxias (D020754)
..Starting node ..Spastic ataxia Charlevoix-Saguenay type (C536787)
Child Nodes:
Sister Nodes:
..Anemia, sideroblastic spinocerebellar ataxia (C536358)
..Ataxia Telangiectasia (D001260) 6
..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..Gemignani syndrome (C537678)
..Machado-Joseph Disease (D017827) 1
..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
..Spastic Ataxia (C564815)
..Spastic ataxia Charlevoix-Saguenay type (C536787)
..Spinocerebellar Ataxia 10 (C566874)
..Spinocerebellar Ataxia 11 (C565772)
..Spinocerebellar Ataxia 12 (C565790)
..Spinocerebellar Ataxia 15 (C564685)
..Spinocerebellar Ataxia 17 (C564616)
..Spinocerebellar ataxia 20 (C537199)
..Spinocerebellar ataxia 25 (C537202)
..Spinocerebellar ataxia 26 (C537203)
..Spinocerebellar ataxia 30 (C575214)
..Spinocerebellar Ataxia 31 (C566146)
..Spinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..Spinocerebellar Ataxia with Dysmorphism (C564802)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..Spinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..Spinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..Spinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Ataxia, X-Linked 5 (C567478)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10356

Name:

Spastic ataxia Charlevoix-Saguenay type

Definition:

Alternative IDs:

OMIM:270550

ParentIDs:

MESH:D009128|MESH:D020754

TreeNumbers:

C05.651.512/C536787 |C10.228.140.252.190.530/C536787 |C10.228.140.252.700.700/C536787 |C10.228.854.787.875/C536787 |C10.574.500.825.700/C536787 |C10.597.350.090.500.530/C536787 |C10.597.613.550.550/C536787 |C16.320.400.780.875/C536787 |C23.888.592.608.550.550/C5

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C536787
MeSH: C536787
OMIM: 270550;

Genes: SACS;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0003438	Absent Achilles reflex
4	HP:0003487	Babinski sign
5	HP:0006855	Cerebellar vermis atrophy
6	HP:0003431	Decreased motor nerve conduction velocity
7	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
8	HP:0003448	Decreased sensory nerve conduction velocity
9	HP:0003693	Distal amyotrophy
10	HP:0002460	Distal muscle weakness
11	HP:0002936	Distal sensory impairment
12	HP:0001260	Dysarthria
13	HP:0001310	Dysmetria
14	HP:0002527	Falls
15	HP:0001765	Hammertoe
16	HP:0007922	Hypermyelinated retinal nerve fibers
17	HP:0001347	Hyperreflexia
18	HP:0007772	Impaired smooth pursuit
19	HP:0002166	Impaired vibration sensation in the lower limbs
20	HP:0001249	Intellectual disability
21	HP:0007001	Loss of Purkinje cells in the cerebellar vermis
22	HP:0000639	Nystagmus
23	HP:0001761	Pes cavus
24	HP:0007240	Progressive gait ataxia
25	HP:0007221	Progressive truncal ataxia
26	HP:0002168	Scanning speech
27	HP:0002497	Spastic ataxia
28	HP:0001257	Spasticity
29	HP:0006150	Swan neck-like deformities of the fingers
30	HP:0000012	Urinary urgency

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_014363.5(SACS):c.13527dupA (p.Glu4510Argfs)	26278	SACS	Pathogenic	797045936	RCV000194514;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23904488	23904488	NM_014363.5:c.13527dupA	NP_055178.3:p.Glu4510Argfs	NC_000013.10:g.23904488dupT	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.12973C>T (p.Arg4325Ter)	26278	SACS	Likely pathogenic	762947018	RCV000169272;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23905042	23905042	NM_014363.5:c.12973C>T	NP_055178.3:p.Arg4325Ter	NC_000013.10:g.23905042G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.12851_12854delAGAG (p.Glu4284Alafs)	26278	SACS	Likely pathogenic	786204628	RCV000169401;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23905161	23905164	NM_014363.5:c.12851_12854delAGAG	NP_055178.3:p.Glu4284Alafs	NC_000013.10:g.23905161_23905164delCTCT	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.12232C>T (p.Arg4078Ter)	26278	SACS	Likely pathogenic	141315518	RCV000169220;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23905783	23905783	NM_014363.5:c.12232C>T	NP_055178.3:p.Arg4078Ter	NC_000013.10:g.23905783G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.12220G>C (p.Ala4074Pro)	26278	SACS	Pathogenic	137853016	RCV000005849;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23905795	23905795	NM_014363.5:c.12220G>C	NP_055178.3:p.Ala4074Pro	NC_000013.10:g.23905795C>G	OMIM Allelic Variant:604490.0003	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.12160C>T (p.Gln4054Ter)	26278	SACS	Pathogenic	281865120	RCV000032008;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23905855	23905855	NM_014363.5:c.12160C>T	NP_055178.3:p.Gln4054Ter	NC_000013.10:g.23905855G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.11624G>A (p.Arg3875His)	26278	SACS	Likely pathogenic	863224916	RCV000197883;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23906391	23906391	NM_014363.5:c.11624G>A	NP_055178.3:p.Arg3875His	NC_000013.10:g.23906391C>T	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.10907G>A (p.Arg3636Gln)	26278	SACS	Pathogenic	281865119	RCV000032007;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23907108	23907108	NM_014363.5:c.10907G>A	NP_055178.3:p.Arg3636Gln	NC_000013.10:g.23907108C>T	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.10906C>T (p.Arg3636Ter)	26278	SACS	Pathogenic	780247476	RCV000192438;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23907109	23907109	NM_014363.5:c.10906C>T	NP_055178.3:p.Arg3636Ter	NC_000013.10:g.23907109G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.10466_10467delCT (p.Ser3489Leufs)	26278	SACS	Likely pathogenic	786204416	RCV000168999;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23907548	23907549	NM_014363.5:c.10466_10467delCT	NP_055178.3:p.Ser3489Leufs	NC_000013.10:g.23907548_23907549delAG	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.9742T>C (p.Trp3248Arg)	26278	SACS	Pathogenic	137853018	RCV000005854;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23908273	23908273	NM_014363.5:c.9742T>C	NP_055178.3:p.Trp3248Arg	NC_000013.10:g.23908273A>G	OMIM Allelic Variant:604490.0008	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.8848_8849dupCA (p.Val2951Metfs)	26278	SACS	Likely pathogenic	797044608	RCV000194102;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23909166	23909167	NM_014363.5:c.8848_8849dupCA	NP_055178.3:p.Val2951Metfs	NC_000013.10:g.23909166_23909167dupTG	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.8844delT (p.Ile2949Phefs)	26278	SACS	Pathogenic	281865117	RCV000005847;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23909171	23909171	NM_014363.5:c.8844delT	NP_055178.3:p.Ile2949Phefs	NC_000013.10:g.23909171delA	GeneReviews:NBK1255,OMIM Allelic Variant:604490.0001	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.8542_8543delTT (p.Phe2848Profs)	26278	SACS	Pathogenic	-1	RCV000218042;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23909472	23909473	NM_014363.5:c.8542_8543delTT	NP_055178.3:p.Phe2848Profs		-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.8393C>A (p.Pro2798Gln)	26278	SACS	Likely pathogenic	140551762	RCV000194652;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23909622	23909622	NM_014363.5:c.8393C>A	NP_055178.3:p.Pro2798Gln	NC_000013.10:g.23909622G>T	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.7641dupA (p.Glu2548Argfs)	26278	SACS	Pathogenic	-1	RCV000214078;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23910374	23910374	NM_014363.5:c.7641dupA	NP_055178.3:p.Glu2548Argfs		-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.7504C>T (p.Arg2502Ter)	26278	SACS	Pathogenic	281865118	RCV000005848;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23910511	23910511	NM_014363.5:c.7504C>T	NP_055178.3:p.Arg2502Ter	NC_000013.10:g.23910511G>A	OMIM Allelic Variant:604490.0002	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.7276C>T (p.Arg2426Ter)	26278	SACS	Likely pathogenic	786204750	RCV000169603; RCV000197883;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23910739	23910739	NM_014363.5:c.7276C>T	NP_055178.3:p.Arg2426Ter	NC_000013.10:g.23910739G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.7276C>T (p.Arg2426Ter)	26278	SACS	Likely pathogenic	786204750	RCV000169603; RCV000197883;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23910739	23910739	NM_014363.5:c.7276C>T	NP_055178.3:p.Arg2426Ter	NC_000013.10:g.23910739G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.5836T>C (p.Trp1946Arg)	26278	SACS	Pathogenic	137853017	RCV000005852;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23912179	23912179	NM_014363.5:c.5836T>C	NP_055178.3:p.Trp1946Arg	NC_000013.10:g.23912179A>G	OMIM Allelic Variant:604490.0006	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.4033dupC (p.Gln1345Profs)	26278	SACS	Pathogenic	606231163	RCV000005853;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23913982	23913982	NM_014363.5:c.4033dupC	NP_055178.3:p.Gln1345Profs	NC_000013.10:g.23913982dupG	OMIM Allelic Variant:604490.0007	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.3589T>C (p.Ser1197Pro)	26278	SACS	Likely pathogenic	727503785	RCV000157061;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23914426	23914426	NM_014363.5:c.3589T>C	NP_055178.3:p.Ser1197Pro	NC_000013.10:g.23914426A>G	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.3328dupA (p.Ile1110Asnfs)	26278	SACS	Likely pathogenic	773840580	RCV000169583;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23914687	23914687	NM_014363.5:c.3328dupA	NP_055178.3:p.Ile1110Asnfs	NC_000013.10:g.23914687dupT	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.3161T>C (p.Phe1054Ser)	26278	SACS	Pathogenic	137853019	RCV000005855;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23914854	23914854	NM_014363.5:c.3161T>C	NP_055178.3:p.Phe1054Ser	NC_000013.10:g.23914854A>G	OMIM Allelic Variant:604490.0009	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.2439_2440delAT (p.Val815Glyfs)	26278	SACS	Likely pathogenic	775059063	RCV000169208;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23915575	23915576	NM_014363.5:c.2439_2440delAT	NP_055178.3:p.Val815Glyfs	NC_000013.10:g.23915575_23915576delAT	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type
NM_014363.5(SACS):c.1919_1920delAC (p.His640Profs)	26278	SACS	Pathogenic	797045937	RCV000192515;	N	MedGen:C1849140,OMIM:270550,ORPHA:98	13	23928831	23928832	NM_014363.5:c.1919_1920delAC	NP_055178.3:p.His640Profs	NC_000013.10:g.23928831_23928832delGT	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type