MCID: BSL009
MIFTS: 47

Basal Ganglia Calcification

Categories: Mental diseases, Neuronal diseases, Rare diseases
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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:



External Ids:

Disease Ontology 11 DOID:0060230
MeSH 43 C536275
SNOMED-CT 68 110997000
UMLS 71 C0393590 C1389280

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...

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:



Diseases related to Basal Ganglia Calcification

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

Drugs & Therapeutics for Basal Ganglia Calcification

Search Clinical Trials, NIH Clinical Center for Basal Ganglia Calcification

Cochrane evidence based reviews: fahr's disease

Genetic Tests for Basal Ganglia Calcification

Genetic tests related to Basal Ganglia Calcification:

# Genetic test Affiliating Genes
1 Basal Ganglia Calcification 28

Anatomical Context for Basal Ganglia Calcification

Organs/tissues related to Basal Ganglia Calcification:

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

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
23334463 2013
2
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. 62 5
22327515 2012
3
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
4
Primary brain calcification: an international study reporting novel variants and associated phenotypes. 5
29955172 2018
5
Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2. 5
27726124 2017
6
Cerebellar vermis hypoplasia and bilateral basal ganglia calcification in maternally inherited diabetes and deafness. 62
36450926 2022
7
Effect of calcitriol and calcium on basal ganglia calcification in hypoparathyroidism: experimental models. 62
36445941 2022
8
SLC20A2-Associated Idiopathic basal ganglia calcification (Fahr disease): a case family report. 62
36397039 2022
9
Systemic lupus erythematosus with diffuse intracranial calcification: A case report and review of literature. 62
36031867 2022
10
Prevalence and Association of Basal Ganglia Calcifications and Depressive Symptoms in Patients With Mild Cognitive Impairment or Dementia. 62
35969855 2022
11
Cultural Considerations in Fahr's Syndrome: A Case Report. 62
36093905 2022
12
A Rare Case of Fahr's Syndrome With Bilateral Vocal Cord Paresis. 62
35990559 2022
13
Fahr's syndrome, intracranial calcification and secondary hypoparathyroidism. 62
35298651 2022
14
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis: A case report. 62
35601382 2022
15
Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype. 62
35881308 2022
16
SLC20A2-related primary familial brain calcification with purely acute psychiatric symptoms: a case report. 62
35850697 2022
17
Bilateral striopallidal calcinosis secondary to systemic lupus erythematosus. 62
35515509 2022
18
Fahr's Syndrome for Primary Hypoparathyroidism in a Patient With COVID-19. 62
35903562 2022
19
A rare cause of stroke in young children: minor head trauma associated with mineralising lenticulostriate angiopathy in three patients. 62
35471857 2022
20
Fahr's Disease and Hypoparathyroidism - A Missing Link. 62
35864655 2022
21
Labrune's Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review. 62
34937159 2022
22
Neuropsychiatric Manifestations of Fahr's Disease, Diagnostic and Therapeutic Challenge: A Case Report and a Literature Review. 62
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
35530931 2022
24
A novel loss-of-function compound heterozygous mutation of MYORG causes idiopathic basal ganglia calcification 7. 62
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
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
35602824 2022
27
Expression of Concern: Fahr Disease: A Rare Cause of First-Time Seizure in the Emergency Department. 62
35463603 2022
28
Hypocalcemia-induced seizure with Fahr's syndrome. 62
35133618 2022
29
Hyperkinetic Choreiform Movements Secondary to Basal Ganglia Calcification and Underlying Developmental Venous Anomaly. 62
35371891 2022
30
PDGF-BB is involved in phosphate regulation via the phosphate transporters in human neuroblastoma SH-SY5Y cells. 62
35063775 2022
31
Young Male With Seizure Disorder and Intracranial Calcification: A Case of Fahr's Syndrome. 62
35308708 2022
32
Fahr's Syndrome in the Setting of Abnormal Calcium-Phosphate Metabolism and Lupus Nephritis. 62
35350516 2022
33
Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression. 62
33893476 2022
34
Characteristics and therapeutic potential of sodium-dependent phosphate cotransporters in relation to idiopathic basal ganglia calcification. 62
34924120 2022
35
[Clinical characteristics and molecular mechanisms of hypoparathyroidism related to GATA3 gene mutation]. 62
34979772 2022
36
COVID-19 Unveiling Brain Calcifications. 62
34396455 2022
37
Adult-Onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) in a Patient Without Significant Family History. 62
35228955 2022
38
Could Fahr's Syndrome Have More Than One Simultaneous Etiology? 62
35036185 2021
39
Fahr's Syndrome Presenting As Pre-senile Dementia With Behavioral Abnormalities: A Rare Case Report. 62
35106221 2021
40
Fahr Disease: A Rare Cause of First-Time Seizure in the Emergency Department. 62
34984125 2021
41
Selective extension of cerebral vascular calcification in an autopsy case of Fahr's syndrome associated with asymptomatic hypoparathyroidism. 62
34462978 2021
42
Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation. 62
34189822 2021
43
Basal ganglia calcification: a Fahr's disease case report. 62
34429801 2021
44
Hereditary and non-hereditary etiologies associated with extensive brain calcification: case series. 62
34287746 2021
45
Fahr's Syndrome Presenting With Hypocalcemia and Psychotic Features. 62
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
33958240 2021
47
Idiopathic basal ganglia calcification associated with new MYORG mutation site: A case report. 62
34540974 2021
48
Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation. 62
33712926 2021
49
Aicardi-Goutières syndrome-associated mutation at ADAR1 gene locus activates innate immune response in mouse brain. 62
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
34077857 2021

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

Expression for Basal Ganglia Calcification

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

Pathways for Basal Ganglia Calcification

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.86 SAMHD1 PDGFRB PDGFB ISG15 ADAR
2 10.43 PDGFRB PDGFB
3 10.3 PDGFRB PDGFB
4 10.23 SAMHD1 RNASEH2C RNASEH2B RNASEH2A ADAR

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 for Basal Ganglia Calcification

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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