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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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Disease Browser
Parent Node: Basal Ganglia Diseases (D001480)
Parent Node: Calcinosis (D002114)
Parent Node: Neurodegenerative Diseases (D019636)
..Starting node ..Idiopathic basal ganglia calcification 1 (C536275)
Child Nodes:
Sister Nodes:
..Familial apoceruloplasmin deficiency (C536004)
..Feigenbaum Bergeron Richardson syndrome (C536178)
..Heredodegenerative Disorders, Nervous System (D020271) 543
..Idiopathic basal ganglia calcification 1 (C536275)
..Lewy Body Disease (D020961) 3
..Motor Neuron Disease (D016472) 64
..Multiple System Atrophy (D019578) 21
..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
..Neuronal intranuclear inclusion disease (C537395)
..Olivopontocerebellar Atrophies (D009849) 15
..Paraneoplastic Syndromes, Nervous System (D020361) 10
..Parkinson Disease (D010300) 24
..PEHO syndrome (C536317)
..Postpoliomyelitis Syndrome (D016262)
..Prion Diseases (D017096) 12
..Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant (C565326)
..Shy-Drager Syndrome (D012791)
..Spastic Pseudosclerosis (C563024)
..Subacute Combined Degeneration (D052879)
..Tauopathies (D024801) 32
..TDP-43 Proteinopathies (D057177) 32
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5697

Name:

Idiopathic basal ganglia calcification 1

Definition:

Alternative IDs:

OMIM:213600

ParentIDs:

MESH:D001480|MESH:D002114|MESH:D019636

TreeNumbers:

C10.228.140.079/C536275 |C10.574/C536275 |C18.452.174.130/C536275

Synonyms:

Adult-onset idiopathic nonarteriosclerotic cerebral calcification |Basal Ganglia Calcification, Idiopathic, 1 |BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3, FORMERLY |Bilateral Striopallidodentate Calcinosis |BSPDC |Cerebral Calcification, Nonarteriosclerotic,

Slim Mappings:

Metabolic disease|Nervous system disease

Reference:

MedGen: C536275
MeSH: C536275
OMIM: 213600;

Genes: SLC20A2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0007256	Abnormal pyramidal sign	HP:0040283
4	HP:0002305	Athetosis
5	HP:0002135	Basal ganglia calcification
6	HP:0002067	Bradykinesia
7	HP:0002504	Calcification of the small brain vessels
8	HP:0002072	Chorea
9	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
10	HP:0000716	Depression
11	HP:0001260	Dysarthria
12	HP:0002075	Dysdiadochokinesis
13	HP:0001332	Dystonia
14	HP:0001288	Gait disturbance
15	HP:0001347	Hyperreflexia
16	HP:0002406	Limb dysmetria
17	HP:0000298	Mask-like facies
18	HP:0002354	Memory impairment
19	HP:0001268	Mental deterioration
20	HP:0001300	Parkinsonism
21	HP:0002172	Postural instability
22	HP:0003676	Progressive
23	HP:0000709	Psychosis
24	HP:0002063	Rigidity
25	HP:0001337	Tremor
26	HP:0000020	Urinary incontinence

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_006749.4(SLC20A2):c.1828_1831delTCCC (p.Ser610Alafs)	6575	SLC20A2	Pathogenic	398122396	RCV000066206;	N	Gene:23706,MedGen:C0393590,OMIM:213600,ORPHA:1980,SNOMED CT:110997000	8	42275449	42275452	NM_006749.4:c.1828_1831delTCCC	NP_006740.1:p.Ser610Alafs	NC_000008.10:g.42275449_42275452delGGGA	OMIM Allelic Variant:158378.0007	C0393590 213600 Idiopathic basal ganglia calcification 1
NM_001257180.1(SLC20A2):c.1802C>G (p.Ser601Trp)	6575	SLC20A2	Pathogenic	387906652	RCV000172920;	N	Gene:23706,MedGen:C0393590,OMIM:213600,ORPHA:1980,SNOMED CT:110997000	8	42275478	42275478	NM_001257180.1:c.1802C>G	NP_001244109.1:p.Ser601Trp	NC_000008.10:g.42275478G>A,NC_000008.10:g.42275478G>C	OMIM Allelic Variant:158378.0002	C0393590 213600 Idiopathic basal ganglia calcification 1
NM_001257180.1(SLC20A2):c.1802C>T (p.Ser601Leu)	6575	SLC20A2	Pathogenic	387906652	RCV000172921;	N	Gene:23706,MedGen:C0393590,OMIM:213600,ORPHA:1980,SNOMED CT:110997000	8	42275478	42275478	NM_001257180.1:c.1802C>T	NP_001244109.1:p.Ser601Leu	NC_000008.10:g.42275478G>A,NC_000008.10:g.42275478G>C	OMIM Allelic Variant:158378.0003	C0393590 213600 Idiopathic basal ganglia calcification 1
NM_006749.4(SLC20A2):c.1784C>T (p.Thr595Met)	6575	SLC20A2	Pathogenic	387906654	RCV000022666;	N	Gene:23706,MedGen:C0393590,OMIM:213600,ORPHA:1980,SNOMED CT:110997000	8	42286286	42286286	NM_006749.4:c.1784C>T	NP_006740.1:p.Thr595Met	NC_000008.10:g.42286286G>A	OMIM Allelic Variant:158378.0005	C0393590 213600 Idiopathic basal ganglia calcification 1
NM_006749.4(SLC20A2):c.1723G>A (p.Glu575Lys)	6575	SLC20A2	Pathogenic	387906653	RCV000022665;	N	Gene:23706,MedGen:C0393590,OMIM:213600,ORPHA:1980,SNOMED CT:110997000	8	42286347	42286347	NM_006749.4:c.1723G>A	NP_006740.1:p.Glu575Lys	NC_000008.10:g.42286347C>T	OMIM Allelic Variant:158378.0004	C0393590 213600 Idiopathic basal ganglia calcification 1
NM_006749.4(SLC20A2):c.583_584delGT (p.Val195Leufs)	6575	SLC20A2	Pathogenic	398122397	RCV000066208;	N	Gene:23706,MedGen:C0393590,OMIM:213600,ORPHA:1980,SNOMED CT:110997000	8	42317443	42317444	NM_006749.4:c.583_584delGT	NP_006740.1:p.Val195Leufs	NC_000008.10:g.42317443_42317444delAC	OMIM Allelic Variant:158378.0008	C0393590 213600 Idiopathic basal ganglia calcification 1
NM_006749.4(SLC20A2):c.508delT (p.Leu170Terfs)	6575	SLC20A2	Pathogenic	398122395	RCV000066204;	N	Gene:23706,MedGen:C0393590,OMIM:213600,ORPHA:1980,SNOMED CT:110997000	8	42320531	42320531	NM_006749.4:c.508delT	NP_006740.1:p.Leu170Terfs	NC_000008.10:g.42320531delA	OMIM Allelic Variant:158378.0006	C0393590 213600 Idiopathic basal ganglia calcification 1