Basal Ganglia Calcification disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Basal Ganglia Calcification

MalaCards integrated aliases for Basal Ganglia Calcification:

Name: Basal Ganglia Calcification ¹¹ ²⁸ ⁵ ¹⁴ ⁷¹

Fahr's Syndrome ⁵² ⁵ ⁷¹

Fahr's Disease ⁷⁵ ⁴³

Fahr Disease ¹¹

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0060230

MeSH ⁴³ C536275

SNOMED-CT ⁶⁸ 110997000

UMLS ⁷¹ C0393590 C1389280

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Summaries for Basal Ganglia Calcification

NINDS: ⁵² Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, dysarthria (poorly articulated speech),spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, and athetosis (involuntary, writhing movements). Fahr's Syndrome can also include symptoms characteristic of Parkinson's disease such as tremors, muscle rigidity, a mask-like facial appearance, shuffling gait, and a "pill-rolling" motion of the fingers. These symptoms generally occur later in the development of the disease. More common symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). Age of onset is typically in the 40s or 50s, although it can occur at any time in childhood or adolescence.

MalaCards based summary: Basal Ganglia Calcification, also known as fahr's syndrome, is related to basal ganglia calcification, idiopathic, 1 and immunodeficiency 38 with basal ganglia calcification, and has symptoms including tremor, abnormality of extrapyramidal motor function and dysdiadochokinesis. An important gene associated with Basal Ganglia Calcification is SLC20A2 (Solute Carrier Family 20 Member 2), and among its related pathways/superpathways are Overview of interferons-mediated signaling pathway and S1P3 pathway. Affiliated tissues include cortex, brain and eye, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and homeostasis/metabolism

Disease Ontology: ¹¹ A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.

Wikipedia: ⁷⁵ Primary Indiana familial brain calcification (PFBC), also known as familial idiopathic basal ganglia... more...

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Related Diseases for Basal Ganglia Calcification

Diseases related to Basal Ganglia Calcification via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 310)

#	Related Disease	Score	Top Affiliating Genes
1	basal ganglia calcification, idiopathic, 1	33.3	XPR1 SLC20A2 PDGFRB PDGFB MYORG JAM2
2	immunodeficiency 38 with basal ganglia calcification	32.7	RNASEH2C RNASEH2B RNASEH2A ISG15
3	aicardi-goutieres syndrome	32.4	SAMHD1 RNASEH2C RNASEH2B RNASEH2A ISG15 ERCC6
4	parkinsonism	31.3	XPR1 WDR45 SLC20A2 MYORG
5	phosphorus metabolism disease	30.1	SLC20A2 SLC20A1 PTH
6	cerebral palsy	30.0	SAMHD1 RNASEH2B PTH PDGFRB ERCC6
7	dystonia	30.0	XPR1 WDR45 SLC20A2 SAMHD1 RNASEH2C RNASEH2B
8	basal ganglia calcification, idiopathic, 4	11.9
9	basal ganglia calcification, idiopathic, 5	11.9
10	basal ganglia calcification, idiopathic, 7, autosomal recessive	11.9
11	basal ganglia calcification, idiopathic, 8, autosomal recessive	11.9
12	basal ganglia calcification, idiopathic, 6	11.8
13	basal ganglia calcification, idiopathic, childhood-onset	11.7
14	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	11.4
15	renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	11.2
16	aicardi-goutieres syndrome 7	11.2
17	hypoparathyroidism	10.8
18	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.6
19	movement disease	10.6
20	down syndrome	10.4
21	pseudohypoparathyroidism	10.4
22	mood disorder	10.4
23	hyperphosphatemia	10.4
24	calcinosis	10.4
25	psychotic disorder	10.4
26	bipolar disorder	10.3
27	kenny-caffey syndrome, type 1	10.3	XPR1 SLC20A2
28	lingual-facial-buccal dyskinesia	10.3	XPR1 SLC20A2 MYORG
29	spasticity	10.3
30	tremor	10.3
31	transient neonatal thrombocytopenia	10.3	RNASEH2C RNASEH2B
32	familiar ovarian carcinoma	10.2	PDGFRB PDGFB
33	immunodeficiency 15a	10.2	RNASEH2C RNASEH2B
34	mild cognitive impairment	10.2
35	rickets	10.2
36	visual epilepsy	10.2
37	choreatic disease	10.2
38	toxoplasmosis	10.2
39	visual cortex disease	10.2	RNASEH2C RNASEH2B RNASEH2A
40	tibial adamantinoma	10.2	PTH PDGFRB
41	periarthritis	10.2	SLC20A1 PTH
42	bone development disease	10.2	PTH MIA2 ERCC6
43	pulmonary alveolar microlithiasis	10.2	SLC20A2 SLC20A1
44	episodic kinesigenic dyskinesia 1	10.1
45	tuberous sclerosis 1	10.1
46	neurodegeneration with brain iron accumulation 1	10.1
47	diabetes and deafness, maternally inherited	10.1
48	kearns-sayre syndrome	10.1
49	mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	10.1
50	supranuclear palsy, progressive, 1	10.1

Graphical network of the top 20 diseases related to Basal Ganglia Calcification:

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Symptoms & Phenotypes for Basal Ganglia Calcification

UMLS symptoms related to Basal Ganglia Calcification:

tremor; abnormality of extrapyramidal motor function; dysdiadochokinesis; athetosis; bradykinesia; muscle rigidity; cerebellar ataxia

GenomeRNAi Phenotypes related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.64	ERCC6 PTH
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.64	ERCC6 RNASEH2A RNASEH2C PTH WDR45
3	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.64	ERCC6 JAM2 RNASEH2A RNASEH2B RNASEH2C XPR1

MGI Mouse Phenotypes related to Basal Ganglia Calcification:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.18	ADAR ERCC6 JAM2 MIA2 MYORG PDGFB
2	growth/size/body region	MP:0005378	10.13	ADAR ERCC6 JAM2 MIA2 PDGFB PDGFRB
3	immune system	MP:0005387	10	ADAR ERCC6 ISG15 PDGFB PDGFRB PTH
4	liver/biliary system	MP:0005370	9.95	ADAR ERCC6 MIA2 PDGFB RNASEH2B SLC20A1
5	embryo	MP:0005380	9.86	ADAR PDGFB PDGFRB RNASEH2A RNASEH2B RNASEH2C
6	skeleton	MP:0005390	9.61	ERCC6 ISG15 JAM2 PDGFRB PTH RNASEH2C
7	mortality/aging	MP:0010768	9.44	ADAR ERCC6 JAM2 MIA2 PDGFB PDGFRB

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Drugs & Therapeutics for Basal Ganglia Calcification

Search Clinical Trials, NIH Clinical Center for Basal Ganglia Calcification

Cochrane evidence based reviews: fahr's disease

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Genetic Tests for Basal Ganglia Calcification

Genetic tests related to Basal Ganglia Calcification:

#	Genetic test	Affiliating Genes
1	Basal Ganglia Calcification ²⁸

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Anatomical Context for Basal Ganglia Calcification

Organs/tissues related to Basal Ganglia Calcification:

MalaCards : Cortex, Brain, Eye, Globus Pallidus, Caudate Nucleus, Thyroid, Bone

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Publications for Basal Ganglia Calcification

Articles related to Basal Ganglia Calcification:

(show top 50) (show all 646)

#	Title	Authors	PMID	Year
1	Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. ⁶² ⁵	Hsu SC...Coppola G	23334463	2013
2	Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. ⁶² ⁵	Wang C...Liu JY	22327515	2012
3	Whole-genome sequencing of patients with rare diseases in a national health system. ⁵	Turro E...Ouwehand WH	32581362	2020
4	Primary brain calcification: an international study reporting novel variants and associated phenotypes. ⁵	Ramos EM...Nicolas G	29955172	2018
5	Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2. ⁵	Pasanen P...Baumann P	27726124	2017
6	Cerebellar vermis hypoplasia and bilateral basal ganglia calcification in maternally inherited diabetes and deafness. ⁶²	Li J...He N	36450926	2022
7	Effect of calcitriol and calcium on basal ganglia calcification in hypoparathyroidism: experimental models. ⁶²	Kar P...Goswami R	36445941	2022
8	SLC20A2-Associated Idiopathic basal ganglia calcification (Fahr disease): a case family report. ⁶²	Li M...Cao Y	36397039	2022
9	Systemic lupus erythematosus with diffuse intracranial calcification: A case report and review of literature. ⁶²	Yuan F...Jiang X	36031867	2022
10	Prevalence and Association of Basal Ganglia Calcifications and Depressive Symptoms in Patients With Mild Cognitive Impairment or Dementia. ⁶²	Goluke NMS...de Jonghe A	35969855	2022
11	Cultural Considerations in Fahr's Syndrome: A Case Report. ⁶²	Ots HD...Petri JD	36093905	2022
12	A Rare Case of Fahr's Syndrome With Bilateral Vocal Cord Paresis. ⁶²	Demir G...Khalid M	35990559	2022
13	Fahr's syndrome, intracranial calcification and secondary hypoparathyroidism. ⁶²	Chen JQ	35298651	2022
14	Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis: A case report. ⁶²	Zeng WG...Wang Z	35601382	2022
15	Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype. ⁶²	Ceylan AC...Kasapkara CS	35881308	2022
16	SLC20A2-related primary familial brain calcification with purely acute psychiatric symptoms: a case report. ⁶²	Bu W...Liu X	35850697	2022
17	Bilateral striopallidal calcinosis secondary to systemic lupus erythematosus. ⁶²	Betancur JF...Martinez OD	35515509	2022
18	Fahr's Syndrome for Primary Hypoparathyroidism in a Patient With COVID-19. ⁶²	Irisson-Mora I...Portocarrero-Ortiz L	35903562	2022
19	A rare cause of stroke in young children: minor head trauma associated with mineralising lenticulostriate angiopathy in three patients. ⁶²	Sugumar K...Delhikumar CG	35471857	2022
20	Fahr's Disease and Hypoparathyroidism - A Missing Link. ⁶²	Subbiah S...Bhagadurshah RR	35864655	2022
21	Labrune's Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review. ⁶²	Sim CY...Ibrahim NM	34937159	2022
22	Neuropsychiatric Manifestations of Fahr's Disease, Diagnostic and Therapeutic Challenge: A Case Report and a Literature Review. ⁶²	Carbone MG...Della Rocca F	35601245	2022
23	Primary familial brain calcification in a patient with a novel compound heterozygous mutation in MYORG presenting with an acute ischemic stroke: a case report. ⁶²	Yang Q...Weng L	35530931	2022
24	A novel loss-of-function compound heterozygous mutation of MYORG causes idiopathic basal ganglia calcification 7. ⁶²	Zhu J...Zhao G	35334423	2022
25	Familial idiopathic basal ganglia calcification with a heterozygous missense variant (c.902C>T/p.P307L) in SLC20A2 showing widespread cerebrovascular lesions. ⁶²	Sakai K...Yamada M	35026865	2022
26	The Impact of COVID-19 Infection on a Neurologically Compromised Male With Fahr's Disease Presenting With Acute Delirium and Aspiration Pneumonia: A Case Report. ⁶²	Bhangal R...Nso N	35602824	2022
27	Expression of Concern: Fahr Disease: A Rare Cause of First-Time Seizure in the Emergency Department. ⁶²	Aldawsari FM...Al-Hawaj F	35463603	2022
28	Hypocalcemia-induced seizure with Fahr's syndrome. ⁶²	Le Hir A...Bobot M	35133618	2022
29	Hyperkinetic Choreiform Movements Secondary to Basal Ganglia Calcification and Underlying Developmental Venous Anomaly. ⁶²	Patel J...Zafar S	35371891	2022
30	PDGF-BB is involved in phosphate regulation via the phosphate transporters in human neuroblastoma SH-SY5Y cells. ⁶²	Takase N...Hozumi I	35063775	2022
31	Young Male With Seizure Disorder and Intracranial Calcification: A Case of Fahr's Syndrome. ⁶²	G J...Pathania M	35308708	2022
32	Fahr's Syndrome in the Setting of Abnormal Calcium-Phosphate Metabolism and Lupus Nephritis. ⁶²	Haider A...Khan M	35350516	2022
33	Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression. ⁶²	Zahniser E...Trittschuh EH	33893476	2022
34	Characteristics and therapeutic potential of sodium-dependent phosphate cotransporters in relation to idiopathic basal ganglia calcification. ⁶²	Inden M...Hozumi I	34924120	2022
35	[Clinical characteristics and molecular mechanisms of hypoparathyroidism related to GATA3 gene mutation]. ⁶²	Yang J...Wang O	34979772	2022
36	COVID-19 Unveiling Brain Calcifications. ⁶²	Sadok SH...de Oliveira JRM	34396455	2022
37	Adult-Onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) in a Patient Without Significant Family History. ⁶²	Kamath S...Desai P	35228955	2022
38	Could Fahr's Syndrome Have More Than One Simultaneous Etiology? ⁶²	Palu G...Lenci Marques G	35036185	2021
39	Fahr's Syndrome Presenting As Pre-senile Dementia With Behavioral Abnormalities: A Rare Case Report. ⁶²	Ghogare AS...Nemade S	35106221	2021
40	Fahr Disease: A Rare Cause of First-Time Seizure in the Emergency Department. ⁶²	Aldawsari FM...Al-Hawaj F	34984125	2021
41	Selective extension of cerebral vascular calcification in an autopsy case of Fahr's syndrome associated with asymptomatic hypoparathyroidism. ⁶²	Iwase T...Yazawa I	34462978	2021
42	Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation. ⁶²	Lu M...Zou L	34189822	2021
43	Basal ganglia calcification: a Fahr's disease case report. ⁶²	Durante A...Pinto F	34429801	2021
44	Hereditary and non-hereditary etiologies associated with extensive brain calcification: case series. ⁶²	Salamon A...Kalmar T	34287746	2021
45	Fahr's Syndrome Presenting With Hypocalcemia and Psychotic Features. ⁶²	Mohammedin AS...Serih MA	34557375	2021
46	First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature. ⁶²	Tekin Orgun L...Erol I	33958240	2021
47	Idiopathic basal ganglia calcification associated with new MYORG mutation site: A case report. ⁶²	Fei BN...Wang X	34540974	2021
48	Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation. ⁶²	Sait H...Phadke SR	33712926	2021
49	Aicardi-Goutières syndrome-associated mutation at ADAR1 gene locus activates innate immune response in mouse brain. ⁶²	Guo X...Wang Q	34332594	2021
50	Mineralizing angiopathy with basal ganglia stroke after minor head trauma; a clinical profile and follow up study of a large series of paediatric patients from North India. ⁶²	Bahri R...Jain V	34077857	2021

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Genes for Basal Ganglia Calcification

Genes related to Basal Ganglia Calcification (2 elite genes):

(show all 35)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SLC20A2	Solute Carrier Family 20 Member 2	Protein Coding	472.71	Pathogenic/Likely pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries Pathways & Interactions (show sections)	22327515 29955172 23334463
2	WDR45	WD Repeat Domain 45	Protein Coding	404.48	Pathogenic ⁵ DISEASES inferred ¹⁴	32581362
3	MYORG	Myogenesis Regulating Glycosidase (Putative)	Protein Coding	25.8	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
4	XPR1	Xenotropic And Polytropic Retrovirus Receptor 1	Protein Coding	25.77	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
5	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	24.44	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
6	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	24.01	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
7	TREM2	Triggering Receptor Expressed On Myeloid Cells 2	Protein Coding	21.96	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
8	IBGC1	Idiopathic Basal Ganglia Calcification 1	Genetic Locus	18.5	GeneCards inferred via : Publications Gene name (show sections)
9	ISG15	ISG15 Ubiquitin Like Modifier	Protein Coding	13.56	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
10	MIA2	MIA SH3 Domain ER Export Factor 2	Protein Coding	11.75	DISEASES inferred ¹⁴ ¹⁴
11	IBGC2	Basal Ganglia Calcification, Idiopathic, 2	Genetic Locus	8.77	GeneCards inferred via : Gene name (show sections)
12	JAM2	Junctional Adhesion Molecule 2	Protein Coding	8.17	GeneCards inferred via : Disorders (show sections)
13	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	7.49	DISEASES inferred ¹⁴ ¹⁴
14	RNASEH2B	Ribonuclease H2 Subunit B	Protein Coding	7.37	DISEASES inferred ¹⁴
15	RNASEH2C	Ribonuclease H2 Subunit C	Protein Coding	7.32	DISEASES inferred ¹⁴
16	RNASEH2A	Ribonuclease H2 Subunit A	Protein Coding	7.23	DISEASES inferred ¹⁴
17	PTH	Parathyroid Hormone	Protein Coding	7.16	DISEASES inferred ¹⁴
18	SAMHD1	SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1	Protein Coding	6.96	DISEASES inferred ¹⁴
19	SLC20A1	Solute Carrier Family 20 Member 1	Protein Coding	6.64	DISEASES inferred ¹⁴
20	ADAR	Adenosine Deaminase RNA Specific	Protein Coding	6.56	DISEASES inferred ¹⁴
21	CASR	Calcium Sensing Receptor	Protein Coding	6.18	DISEASES inferred ¹⁴
22	IFIH1	Interferon Induced With Helicase C Domain 1	Protein Coding	6.04	DISEASES inferred ¹⁴
23	PSMB8	Proteasome 20S Subunit Beta 8	Protein Coding	5.99	DISEASES inferred ¹⁴
24	PSMA3	Proteasome 20S Subunit Alpha 3	Protein Coding	5.88	DISEASES inferred ¹⁴
25	PSMB4	Proteasome 20S Subunit Beta 4	Protein Coding	5.84	DISEASES inferred ¹⁴
26	MT-TW	Mitochondrially Encoded TRNA-Trp (UGA/G)	RNA Gene	5.72	DISEASES inferred ¹⁴
27	POMP	Proteasome Maturation Protein	Protein Coding	5.62	DISEASES inferred ¹⁴
28	PSMG2	Proteasome Assembly Chaperone 2	Protein Coding	5.56	DISEASES inferred ¹⁴
29	USP18	Ubiquitin Specific Peptidase 18	Protein Coding	5.49	DISEASES inferred ¹⁴
30	AP1S2	Adaptor Related Protein Complex 1 Subunit Sigma 2	Protein Coding	5.47	DISEASES inferred ¹⁴
31	SLC4A4	Solute Carrier Family 4 Member 4	Protein Coding	5.44	DISEASES inferred ¹⁴
32	THAP1	THAP Domain Containing 1	Protein Coding	5.36	DISEASES inferred ¹⁴
33	IFNA1	Interferon Alpha 1	Protein Coding	5.31	DISEASES inferred ¹⁴
34	SMIM19	Small Integral Membrane Protein 19	Protein Coding	5.28	DISEASES inferred ¹⁴
35	PANK2	Pantothenate Kinase 2	Protein Coding	5.26	DISEASES inferred ¹⁴

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Variations for Basal Ganglia Calcification

ClinVar genetic disease variations for Basal Ganglia Calcification:

⁵ (show top 50) (show all 123)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SLC20A2	NM_001257180.2(SLC20A2):c.1784C>T (p.Thr595Met)	SNV	Pathogenic	29797	rs387906654	GRCh37: 8:42286286-42286286 GRCh38: 8:42428768-42428768
2	SLC20A2	NM_001257180.2(SLC20A2):c.1492G>A (p.Gly498Arg)	SNV	Pathogenic	29793	rs1586022262	GRCh37: 8:42294538-42294538 GRCh38: 8:42437020-42437020
3	SLC20A2	NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs)	DEL	Pathogenic	75233	rs398122397	GRCh37: 8:42317443-42317444 GRCh38: 8:42459925-42459926
4	SLC20A2	NM_001257180.2(SLC20A2):c.1828_1831del (p.Ser610fs)	DEL	Pathogenic	75231	rs398122396	GRCh37: 8:42275449-42275452 GRCh38: 8:42417931-42417934
5	SLC20A2	NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer)	DEL	Pathogenic	280118	rs398122395	GRCh37: 8:42320530-42320530 GRCh38: 8:42463012-42463012
6	SLC20A2	SLC20A2, EX6-10DEL	DEL	Pathogenic	691908		GRCh37: GRCh38:
7	WDR45	NM_001029896.2(WDR45):c.69_75del (p.Cys23fs)	DEL	Pathogenic	813007	rs1602540581	GRCh37: X:48935551-48935557 GRCh38: X:49077892-49077898
8	SLC20A2	NM_001257180.2(SLC20A2):c.1144C>T (p.Arg382Ter)	SNV	Pathogenic	1676262		GRCh37: 8:42294886-42294886 GRCh38: 8:42437368-42437368
9	SLC20A2	NM_001257180.2(SLC20A2):c.80_92del (p.Asn27fs)	DEL	Pathogenic	1691845		GRCh37: 8:42329817-42329829 GRCh38: 8:42472299-42472311
10	SLC20A2	NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter)	SNV	Pathogenic	522849	rs751093906	GRCh37: 8:42329773-42329773 GRCh38: 8:42472255-42472255
11	SLC20A2	NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter)	SNV	Pathogenic	522850	rs387906653	GRCh37: 8:42286347-42286347 GRCh38: 8:42428829-42428829
12	SLC20A2	NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter)	SNV	Pathogenic	584447	rs1563452941	GRCh37: 8:42294655-42294655 GRCh38: 8:42437137-42437137
13	SLC20A2	NM_001257180.2(SLC20A2):c.935-2A>G	SNV	Pathogenic	636249	rs1586025869	GRCh37: 8:42295097-42295097 GRCh38: 8:42437579-42437579
14	SLC20A2	NM_001257180.2(SLC20A2):c.99del (p.Phe33fs)	DEL	Pathogenic	930597	rs1807706006	GRCh37: 8:42329810-42329810 GRCh38: 8:42472292-42472292
15	SLC20A2	NM_001257180.2(SLC20A2):c.731-18_738del	DEL	Pathogenic	1702969		GRCh37: 8:42297164-42297189 GRCh38: 8:42439646-42439671
16	SLC20A2	NM_001257180.2(SLC20A2):c.1637_1638del (p.Thr546fs)	MICROSAT	Pathogenic	1705290		GRCh37: 8:42287653-42287654 GRCh38: 8:42430135-42430136
17	SLC20A2	NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp)	SNV	Pathogenic	29794	rs387906652	GRCh37: 8:42275478-42275478 GRCh38: 8:42417960-42417960
18	SLC20A2	NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu)	SNV	Pathogenic/Likely Pathogenic	29795	rs387906652	GRCh37: 8:42275478-42275478 GRCh38: 8:42417960-42417960
19	SLC20A2	NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu)	SNV	Likely Pathogenic	1064453		GRCh37: 8:42287588-42287588 GRCh38: 8:42430070-42430070
20	SLC20A2	NM_001257180.2(SLC20A2):c.1794+1G>C	SNV	Likely Pathogenic	1339721		GRCh37: 8:42286275-42286275 GRCh38: 8:42428757-42428757
21	SLC20A2	NM_001257180.2(SLC20A2):c.1845C>G (p.Asp615Glu)	SNV	Likely Pathogenic	1343824		GRCh37: 8:42275435-42275435 GRCh38: 8:42417917-42417917
22	SLC20A2	NM_001257180.2(SLC20A2):c.165_169del (p.Glu55fs)	DEL	Likely Pathogenic	1325076		GRCh37: 8:42329740-42329744 GRCh38: 8:42472222-42472226
23	SLC20A2	NM_001257180.2(SLC20A2):c.290-1G>A	SNV	Likely Pathogenic	1325077		GRCh37: 8:42323436-42323436 GRCh38: 8:42465918-42465918
24	SLC20A2	NM_001257180.2(SLC20A2):c.303del (p.Trp101fs)	DEL	Likely Pathogenic	634896	rs1563490467	GRCh37: 8:42323422-42323422 GRCh38: 8:42465904-42465904
25	SLC20A2	NM_001257180.2(SLC20A2):c.1795-1G>A	SNV	Likely Pathogenic	634897	rs1563431044	GRCh37: 8:42275486-42275486 GRCh38: 8:42417968-42417968
26	SLC20A2	NM_001257180.2(SLC20A2):c.21del (p.Leu7fs)	DEL	Likely Pathogenic	634898	rs1563498184	GRCh37: 8:42329888-42329888 GRCh38: 8:42472370-42472370
27	SLC20A2	NC_000008.10:g.(?_42275320)_(42297172_42302163)del	DEL	Likely Pathogenic	634890		GRCh37: 8:42275320-42302163 GRCh38: 8:42417802-42444645
28	SLC20A2	NM_001257180.2(SLC20A2):c.1520_1521del (p.Val507fs)	DEL	Likely Pathogenic	634891	rs1563452322	GRCh37: 8:42294509-42294510 GRCh38: 8:42436991-42436992
29	SLC20A2	NM_001257180.2(SLC20A2):c.188G>A (p.Gly63Asp)	SNV	Likely Pathogenic	634892	rs1563497714	GRCh37: 8:42329721-42329721 GRCh38: 8:42472203-42472203
30	SLC20A2	NM_001257180.2(SLC20A2):c.187G>A (p.Gly63Ser)	SNV	Likely Pathogenic	634893	rs1563497719	GRCh37: 8:42329722-42329722 GRCh38: 8:42472204-42472204
31	SLC20A2	NM_001257180.2(SLC20A2):c.1196A>C (p.His399Pro)	SNV	Likely Pathogenic	634894	rs1563453866	GRCh37: 8:42294834-42294834 GRCh38: 8:42437316-42437316
32	SLC20A2	NC_000008.10:g.(42297172_42302163)_(42302281_42317413)del	DEL	Likely Pathogenic	634895		GRCh37: 8:42297172-42317413 GRCh38: 8:42439654-42459895
33	SLC20A2	NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)	SNV	Likely Pathogenic	29796	rs387906653	GRCh37: 8:42286347-42286347 GRCh38: 8:42428829-42428829
34	overlap with 8 genes		DEL	Likely Pathogenic	236030		GRCh37: 8:42338721-42916885 GRCh38:
35	SLC20A2	NM_001257180.2(SLC20A2):c.-89A>G	SNV	Uncertain Significance	363095	rs185590768	GRCh37: 8:42329997-42329997 GRCh38: 8:42472479-42472479
36	SLC20A2	NM_001257180.2(SLC20A2):c.1576G>T (p.Val526Leu)	SNV	Uncertain Significance	363070	rs1420760497	GRCh37: 8:42287715-42287715 GRCh38: 8:42430197-42430197
37	SLC20A2	NM_001257180.2(SLC20A2):c.*538C>T	SNV	Uncertain Significance	363057	rs746914329	GRCh37: 8:42274783-42274783 GRCh38: 8:42417265-42417265
38	SLC20A2	NM_001257180.2(SLC20A2):c.1090G>A (p.Asp364Asn)	SNV	Uncertain Significance	363076	rs748895007	GRCh37: 8:42294940-42294940 GRCh38: 8:42437422-42437422
39	SLC20A2	NM_001257180.2(SLC20A2):c.883C>T (p.Leu295=)	SNV	Uncertain Significance	363082	rs1212922301	GRCh37: 8:42297019-42297019 GRCh38: 8:42439501-42439501
40	SLC20A2	NM_001257180.2(SLC20A2):c.*171G>A	SNV	Uncertain Significance	363063	rs908206225	GRCh37: 8:42275150-42275150 GRCh38: 8:42417632-42417632
41	SLC20A2	NM_001257180.2(SLC20A2):c.834G>A (p.Lys278=)	SNV	Uncertain Significance	363085	rs778920007	GRCh37: 8:42297068-42297068 GRCh38: 8:42439550-42439550
42	SLC20A2	NM_001257180.2(SLC20A2):c.*1069G>C	SNV	Uncertain Significance	363052	rs1010204441	GRCh37: 8:42274252-42274252 GRCh38: 8:42416734-42416734
43	SLC20A2	NM_001257180.2(SLC20A2):c.*660T>C	SNV	Uncertain Significance	363055	rs1211116059	GRCh37: 8:42274661-42274661 GRCh38: 8:42417143-42417143
44	SLC20A2	NM_001257180.2(SLC20A2):c.*409A>G	SNV	Uncertain Significance	363058	rs190717111	GRCh37: 8:42274912-42274912 GRCh38: 8:42417394-42417394
45	SLC20A2	NM_001257180.2(SLC20A2):c.*70C>T	SNV	Uncertain Significance	363067	rs371247567	GRCh37: 8:42275251-42275251 GRCh38: 8:42417733-42417733
46	SLC20A2	NM_001257180.2(SLC20A2):c.*124G>T	SNV	Uncertain Significance	363064	rs948433091	GRCh37: 8:42275197-42275197 GRCh38: 8:42417679-42417679
47	SLC20A2	NM_001257180.2(SLC20A2):c.*289A>C	SNV	Uncertain Significance	363061	rs892436898	GRCh37: 8:42275032-42275032 GRCh38: 8:42417514-42417514
48	SLC20A2	NM_001257180.2(SLC20A2):c.553G>C (p.Val185Leu)	SNV	Uncertain Significance	363089	rs188325552	GRCh37: 8:42317474-42317474 GRCh38: 8:42459956-42459956
49	SLC20A2	NM_001257180.2(SLC20A2):c.1803G>A (p.Ser601=)	SNV	Uncertain Significance	363069	rs761069656	GRCh37: 8:42275477-42275477 GRCh38: 8:42417959-42417959
50	SLC20A2	NM_001257180.2(SLC20A2):c.679G>A (p.Ala227Thr)	SNV	Uncertain Significance	908503	rs140978915	GRCh37: 8:42302215-42302215 GRCh38: 8:42444697-42444697

Sources

Expression for Basal Ganglia Calcification

Search GEO for disease gene expression data for Basal Ganglia Calcification.

Sources

Pathways for Basal Ganglia Calcification

Pathways related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Overview of interferons-mediated signaling pathway ⁷⁴ Show member pathways all-trans-Retinoic Acid Mediated Apoptosis ⁶⁴ Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Regulation of IFNA/IFNB signaling ⁶⁶ Type III interferon signaling ⁷⁴	11.86	SAMHD1 PDGFRB PDGFB ISG15 ADAR
2	S1P3 pathway ⁶¹	10.43	PDGFRB PDGFB
3	S1P1 pathway ⁶¹	10.3	PDGFRB PDGFB
4	Pathways of nucleic acid metabolism and innate immune sensing ⁷⁴	10.23	SAMHD1 RNASEH2C RNASEH2B RNASEH2A ADAR

Sources

GO Terms for Basal Ganglia Calcification

Cellular components related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	obsolete intrinsic component of plasma membrane	GO:0031226	9.13	XPR1 TREM2 PDGFRB
2	ribonuclease H2 complex	GO:0032299	9.1	RNASEH2C RNASEH2B RNASEH2A

Biological processes related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of fibroblast proliferation	GO:0048146	9.91	RNASEH2B PDGFRB PDGFB
2	RNA catabolic process	GO:0006401	9.88	RNASEH2C RNASEH2B RNASEH2A
3	mismatch repair	GO:0006298	9.85	RNASEH2C RNASEH2B RNASEH2A
4	negative regulation of type I interferon-mediated signaling pathway	GO:0060339	9.73	ADAR ISG15 SAMHD1
5	positive regulation of chemotaxis	GO:0050921	9.63	TREM2 PDGFRB PDGFB
6	positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway	GO:0035793	9.62	PDGFRB PDGFB
7	phosphate ion transmembrane transport	GO:0035435	9.43	XPR1 SLC20A2 SLC20A1
8	phosphate ion transport	GO:0006817	8.92	XPR1 SLC20A2 SLC20A1

Molecular functions related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	sodium:phosphate symporter activity	GO:0005436	9.46	SLC20A2 SLC20A1
2	platelet-derived growth factor binding	GO:0048407	9.26	PDGFRB PDGFB
3	inorganic phosphate transmembrane transporter activity	GO:0005315	8.92	SLC20A2 SLC20A1

Sources

Sources for Basal Ganglia Calcification

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: BSL009 MIFTS: 47	Basal Ganglia Calcification Categories: Mental diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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