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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Basal Ganglia Diseases (D001480)
Parent Node: Chorea (D002819)
Parent Node: Cognition Disorders (D003072)
Parent Node: Dementia (D003704)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
..Starting node ..Huntington Disease (D006816)
Child Nodes:
........Huntington Disease-Like 1 (C566398)
........Huntington Disease-Like 3 (C565747)
........Westphal disease (C536694)
Sister Nodes:
..Alexander Disease (D038261) 1
..Amyloid Neuropathies, Familial (D028227) 1
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Bulbo-Spinal Atrophy, X-Linked (D055534) 1
..Canavan Disease (D017825)
..Cerebrocortical Degeneration of Infancy (C565863)
..Cockayne Syndrome (D003057) 6
..Dystonia Musculorum Deformans (D004422) 7
..Familial encephalopathy with neuroserpin inclusion bodies (C536841)
..Fatty Acid Hydroxylase-Associated Neurodegeneration (C580102)
..Gerstmann-Straussler-Scheinker Disease (D016098)
..Hepatolenticular Degeneration (D006527) 2
..Hereditary Central Nervous System Demyelinating Diseases (D020279) 29 C:2
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Hereditary Sensory and Motor Neuropathy (D015417) 164 C:3
..Huntington Disease (D006816) 3
..Huntington Disease-Like 2 (C564708)
..Huntington Disease-Like Syndrome (C580174)
..Lafora Disease (D020192)
..Lipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
..Mental Retardation, X-Linked (D038901) 134 C:4
..Microphthalmia, Syndromic 10 (C566985)
..Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..Myotonia Congenita (D009224) 5
..Myotonic Dystrophy (D009223) 1
..Navajo neurohepatopathy (C538344) 1 C:1 L: 00035;
..Neuroacanthocytosis (D054546) 1
..Neurofibromatoses (D017253) 13 C:1
..Neuronal Ceroid-Lipofuscinoses (D009472) 9
..Neuropathy, Hereditary Sensory, Atypical (C564946)
..Optic Atrophies, Hereditary (D015418) 30 C:5
..Opticocochleodentate Degeneration (C563002)
..Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain (C564894)
..Scapuloperoneal Syndrome, Neurogenic, Kaeser Type (C566695)
..Spinal Muscular Atrophies of Childhood (D014897) 7
..Spinocerebellar Degenerations (D013132) 85 C:4
..Spongiform Encephalopathy with Neuropsychiatric Features (C564678)
..Tourette Syndrome (D005879) 2
..Tuberous Sclerosis (D014402) 4
..Unverricht-Lundborg Syndrome (D020194)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

5756

Name:

Huntington Disease

Definition:

A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)

Alternative IDs:

DO:DOID:12858|OMIM:143100

ParentIDs:

MESH:D001480|MESH:D002819|MESH:D003072|MESH:D003704|MESH:D020271

TreeNumbers:

C10.228.140.079.545 |C10.228.140.380.278 |C10.228.662.262.249.750 |C10.574.500.497 |C16.320.400.430 |F03.615.250.400 |F03.615.400.390

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Mental disorder|Nervous system disease

Reference:

MedGen: D006816
MeSH: D006816
OMIM: 143100;
MSeqDR :
Genes: HTT;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000496	Abnormality of eye movement
3	HP:0002067	Bradykinesia
4	HP:0001272	Cerebellar atrophy
5	HP:0002072	Chorea NAMDC: Chorea
6	HP:0000726	Dementia NAMDC: Dementia
7	HP:0000716	Depressivity NAMDC: Depression
8	HP:0002066	Gait ataxia
9	HP:0002171	Gliosis
10	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
11	HP:0002529	Neuronal loss in central nervous system
12	HP:0000751	Personality changes
13	HP:0002063	Rigidity	HP:0040283
14	HP:0001250	Seizures NAMDC: Seizures

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001388492.1(HTT):c.54GCA[22] (p.Gln36_Gln38dup)	3064	HTT	Uncertain significance	-1	RCV001733586;	N	MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100, Orphanet:248111, Orphanet:399	4	3076603	3076604	3076603	-
NM_001388492.1(HTT):c.54GCA[40] (p.Gln18_Gln38dup)	3064	HTT	Likely pathogenic	-1	RCV002251189;	N	MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100, Orphanet:248111, Orphanet:399	4	3076603	3076604	3076603	-
NC_000004.11:g.3076606GCA[40_?]	3064	HTT	Pathogenic	-1	RCV000030659;	N	MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100, Orphanet:248111, Orphanet:399	4	3076604	3076660		OMIM:613004.0001	C0020179 143100 Huntington's chorea;
NM_002111.8(HTT):c.52CAG[?_25]	3064	HTT	Benign	-1	RCV000020466;	N	MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100, Orphanet:248111, Orphanet:399	4	3076604	3076606		-	C0020179 143100 Huntington's chorea;
NM_002111.8(HTT):c.52CAG[27_35] (p.Gln18_Gln38delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	3064	HTT	not provided	-1	RCV000032098;	N	MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100, Orphanet:248111, Orphanet:399	4	3076604	3076604		-	C0020179 143100 Huntington's chorea;
NM_002111.8(HTT):c.52CAG[36_39]	3064	HTT	not provided	-1	RCV000032099;	N	MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100, Orphanet:248111, Orphanet:399	4	3076604	3076604		-
NC_000004.11:g.3076606GCA[36_39]	3064	HTT	other	-1	RCV001003411;	N	MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100, Orphanet:248111, Orphanet:399	4	3076606	3076716	-1	-
NC_000004.11:g.3076606GCA[(?_26)]	3064	HTT	Benign	-1	RCV001003421;	N	MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100, Orphanet:248111, Orphanet:399	4	3076606	3076606		-
NC_000004.11:g.3076606GCA[27_35]	3064	HTT	other	-1	RCV001003422;	N	MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100, Orphanet:248111, Orphanet:399	4	3076606	3076689	-1	-
NM_001388492.1(HTT):c.54GCA[13] (p.Gln33_Gln38del)	3064	HTT	Likely benign	rs1712396191	RCV001262217;	N	MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100, Orphanet:248111, Orphanet:399	4	3076639	3076660	4:g.3076639_3076660del	-
NM_001388492.1(HTT):c.99_100del (p.Gln34fs)	3064	HTT	Likely benign	-1	RCV002502086;	N	MONDO:MONDO:0054573,MedGen:C4479491,OMIM:617435; MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100, Orphanet:248111, Orphanet:399	4	3076645	3076646	NC_000004.11:g.3076645_3076646del	-
NM_001388492.1(HTT):c.4638C>G (p.Val1546=)	3064	HTT	Benign/Likely benign	-1	RCV002199156\|RCV002500435;	N	MedGen:CN517202\|MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100, Orphanet:248111, Orphanet:399; MONDO:MONDO:0054573,MedGen:C4479491,OMIM:617435	4	3182267	3182267	3182267	-
NM_001388492.1(HTT):c.7765+10G>A	3064	HTT	Benign/Likely benign	-1	RCV002115694\|RCV002508010;	N	MedGen:CN517202\|MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100, Orphanet:248111, Orphanet:399; MONDO:MONDO:0054573,MedGen:C4479491,OMIM:617435	4	3225868	3225868	3225868	-
NM_001388492.1(HTT):c.8903G>A (p.Gly2968Asp)	3064	HTT	Uncertain significance	rs1721646894	RCV001262222;	N	MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100, Orphanet:248111, Orphanet:399	4	3240185	3240185	4:g.3240185G>A	-

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