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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

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

Disease Browser
Parent Node: Basal Ganglia Diseases (D001480)
..Starting node ..Basal ganglia disease, biotin-responsive (C537658)
Child Nodes:
Sister Nodes:
..Alopecia hypogonadism extrapyramidal disorder (C537053)
..Basal ganglia calcification, idiopathic 2 (C537657)
..Basal Ganglia Cerebrovascular Disease (D020144) 2
..Basal ganglia disease, biotin-responsive (C537658)
..Chorea Gravidarum (D020150)
..Dystonia Musculorum Deformans (D004422) 7
..Hepatolenticular Degeneration (D006527) 2
..Huntington Disease (D006816) 3
..Idiopathic basal ganglia calcification 1 (C536275)
..Idiopathic basal ganglia calcification, childhood onset (C536276)
..Meige Syndrome (D008538)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Multiple System Atrophy (D019578) 21
..Neuhauser Eichner Opitz syndrome (C536407)
..Neuroleptic Malignant Syndrome (D009459)
..Pallidal Degeneration, Progressive, with Retinitis Pigmentosa (C564910)
..Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
..Parkinsonian Disorders (D020734) 39
..Parkinsonism, early onset with mental retardation (C537179)
..Spastic Paraplegia With Associated Extrapyramidal Signs (C566681)
..Supranuclear Palsy, Progressive (D013494) 5
..Tourette Syndrome (D005879) 2
..Woodhouse Sakati syndrome (C536742)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1188

Name:

Basal ganglia disease, biotin-responsive

Definition:

Alternative IDs:

OMIM:607483

ParentIDs:

MESH:D001480

TreeNumbers:

C10.228.140.079/C537658

Synonyms:

Slim Mappings:

Nervous system disease

Reference:

MedGen: C537658
MeSH: C537658
OMIM: 607483;

Genes: SLC19A3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003621	Juvenile onset
3	HP:0002134	Abnormality of the basal ganglia
4	HP:0003487	Babinski sign
5	HP:0001259	Coma
6	HP:0001289	Confusion
7	HP:0012179	Craniofacial dystonia
8	HP:0001260	Dysarthria
9	HP:0002015	Dysphagia
10	HP:0001332	Dystonia
11	HP:0001298	Encephalopathy
12	HP:0000544	External ophthalmoplegia
13	HP:0001945	Fever
14	HP:0002066	Gait ataxia
15	HP:0001263	Global developmental delay	HP:0040283
16	HP:0002540	Inability to walk
17	HP:0000737	Irritability
18	HP:0002062	Morphological abnormality of the pyramidal tract
19	HP:0008936	Muscular hypotonia of the trunk
20	HP:0002300	Mutism
21	HP:0000639	Nystagmus
22	HP:0002385	Paraparesis
23	HP:0000508	Ptosis
24	HP:0002063	Rigidity
25	HP:0001250	Seizure

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_025243.3(SLC19A3):c.1264A>G (p.Thr422Ala)	80704	SLC19A3	Pathogenic	121917884	RCV000004825;	N	MedGen:C1843807,OMIM:607483,ORPHA:65284	2	228552932	228552932	NM_025243.3:c.1264A>G	NP_079519.1:p.Thr422Ala	NC_000002.11:g.228552932T>C	OMIM Allelic Variant:606152.0002	C1843807 607483 Basal ganglia disease, biotin-responsive
NM_025243.3(SLC19A3):c.958G>C (p.Glu320Gln)	80704	SLC19A3	Pathogenic	137852958	RCV000004828;	N	MedGen:C1843807,OMIM:607483,ORPHA:65284	2	228563473	228563473	NM_025243.3:c.958G>C	NP_079519.1:p.Glu320Gln	NC_000002.11:g.228563473C>G	OMIM Allelic Variant:606152.0004	C1843807 607483 Basal ganglia disease, biotin-responsive
NM_025243.3(SLC19A3):c.130A>G (p.Lys44Glu)	80704	SLC19A3	Pathogenic	137852957	RCV000004827;	N	MedGen:C1843807,OMIM:607483,ORPHA:65284	2	228566905	228566905	NM_025243.3:c.130A>G	NP_079519.1:p.Lys44Glu	NC_000002.11:g.228566905T>C	OMIM Allelic Variant:606152.0003	C1843807 607483 Basal ganglia disease, biotin-responsive
NM_025243.3(SLC19A3):c.74dupT (p.Ser26Leufs)	80704	SLC19A3	Pathogenic	786205213	RCV000170443;	N	MedGen:C1843807,OMIM:607483,ORPHA:65284	2	228566961	228566961	NM_025243.3:c.74dupT	NP_079519.1:p.Ser26Leufs	NC_000002.11:g.228566961dupA	-	C1843807 607483 Basal ganglia disease, biotin-responsive
NM_025243.3(SLC19A3):c.68G>T (p.Gly23Val)	80704	SLC19A3	Pathogenic	121917882	RCV000004824; RCV000196973;	N	MedGen:C1843807,OMIM:607483,ORPHA:65284; MedGen:CN221809	2	228566967	228566967	NM_025243.3:c.68G>T	NP_079519.1:p.Gly23Val	NC_000002.11:g.228566967C>A	OMIM Allelic Variant:606152.0001	C1843807 607483 Basal ganglia disease, biotin-responsive; CN221809 not provided
NM_025243.3(SLC19A3):c.20C>A (p.Ser7Ter)	80704	SLC19A3	Pathogenic	713993048	RCV000149551;	N	MedGen:C1843807,OMIM:607483,ORPHA:65284	2	228567015	228567015	NM_025243.3:c.20C>A	NP_079519.1:p.Ser7Ter	NC_000002.11:g.228567015G>T	OMIM Allelic Variant:606152.0007	C1843807 607483 Basal ganglia disease, biotin-responsive