IBGC1
MCID: BSL038
MIFTS: 52

Basal Ganglia Calcification, Idiopathic, 1 (IBGC1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 1

MalaCards integrated aliases for Basal Ganglia Calcification, Idiopathic, 1:

Name: Basal Ganglia Calcification, Idiopathic, 1 56 73 13
Primary Familial Brain Calcification 56 24 52 25 58 73 29
Bilateral Striopallidodentate Calcinosis 52 25 58 73
Bspdc 56 52 58 73
Familial Idiopathic Basal Ganglia Calcification 25 53 36
Idiopathic Basal Ganglia Calcification 1 52 29 6
Cerebrovascular Ferrocalcinosis 25 58 73
Pfbc 56 58 73
Ferrocalcinosis, Cerebrovascular 56 52
Ibgc1 56 73
Basal Ganglia Calcification, Idiopathic, 3, Formerly; Ibgc3, Formerly 56
Basal Ganglia Calcification, Idiopathic, 2, Formerly; Ibgc2, Formerly 56
Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset 56
Non-Arteriosclerotic, Idiopathic, Adult-Onset Cerebral Calcification 73
Cerebral Calcification Nonarteriosclerotic Idiopathic Adult-Onset 52
Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset 56
Striopallidodentate Calcinosis Autosomal Dominant Adult-Onset 52
Autosomal Dominant Adult-Onset Striopallidodentate Calcinosis 73
Basal Ganglia Calcification, Idiopathic, 3, Formerly 56
Basal Ganglia Calcification, Idiopathic, 2, Formerly 56
Striopallidodentate Calcinosis, Bilateral; Bspdc 56
Calcification, Basal Ganglia, Idiopathic, Type 1 39
Primary Familial Brain Calcification; Pfbc 56
Striopallidodentate Calcinosis, Bilateral 56
Idiopathic Basal Ganglia Calcification 3 73
Calcification, Basal Ganglia, Idiopathic 39
Idiopathic Basal Ganglia Calcification 58
Fahr Disease, Familial, Formerly 56
Ferrocalcinosis Cerebro Vascular 74
Striopallidodentate Calcinosis 25
Familial Fahr Disease 73
Ibgc3, Formerly 56
Ibgc2, Formerly 56
Fahr's Syndrome 71
Fibgc 25
Ibgc3 73

Characteristics:

Orphanet epidemiological data:

58
bilateral striopallidodentate calcinosis
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
adult onset (range 30 to 50 years)
asymptomatic younger patients show characteristic basal ganglia calcifications
see also a childhood-onset form


HPO:

31
basal ganglia calcification, idiopathic, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset


GeneReviews:

24
Penetrance Incomplete and age-related penetrance is reported in pfbc, but the factors that influence clinical manifestations are unknown. the degree of penetrance may depend on whether diagnosis is considered at an anatomic level (presence of calcifications in the brain) or at a clinical level (presence of clinical symptoms)....

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Basal Ganglia Calcification, Idiopathic, 1

Genetics Home Reference : 25 Primary familial brain calcification is a condition characterized by abnormal deposits of calcium (calcification) in blood vessels within the brain. These calcium deposits are visible only on medical imaging and typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement of the body; however, other brain regions can also be affected. The main signs and symptoms of primary familial brain calcification are movement disorders and psychiatric or behavioral difficulties. These problems usually begin in mid-adulthood, and worsen over time. Generally, more than half of affected individuals have movement difficulties that can include involuntary tensing of various muscles (dystonia), unusually slow movements (bradykinesia), rhythmic shaking (tremor), uncontrollable movements of the limbs (choreoathetosis), or an unsteady walking style (gait). Psychiatric and behavioral problems occur in 20 to 30 percent of people with primary familial brain calcification. These problems can include difficulty concentrating, memory loss, changes in personality, a distorted view of reality (psychosis), and decline in intellectual function (dementia). Affected individuals may also have difficulty swallowing (dysphagia), impaired speech, headache, episodes of extreme dizziness (vertigo), seizures, or urinary problems. The severity of primary familial brain calcification varies among affected individuals; some people have no symptoms related to the condition, whereas others have significant movement and psychiatric problems.

MalaCards based summary : Basal Ganglia Calcification, Idiopathic, 1, also known as primary familial brain calcification, is related to basal ganglia calcification and dystonia, and has symptoms including tremor, abnormality of extrapyramidal motor function and dysdiadochokinesis. An important gene associated with Basal Ganglia Calcification, Idiopathic, 1 is SLC20A2 (Solute Carrier Family 20 Member 2), and among its related pathways/superpathways are Development EGFR signaling via small GTPases and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include brain, cortex and eye, and related phenotypes are seizures and cerebral calcification

NIH Rare Diseases : 52 Primary familial brain calcification (PFBC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking (gait ), slow or slurred speech, difficulty swallowing (dysphagia ) and dementia . Migraines and seizures frequently occur. Symptoms typically start in an individual's 30's to 40's but may begin at any age.The neuropsychiatric symptoms and movement disorders worsen over time. Mutations in the SLC20A2 , PDGFRB , and PDGFB genes have been found to cause PFBC. This condition is inherited in an autosomal dominant manner.

OMIM : 56 Familial idiopathic basal ganglia calcification is an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Patients with calcifications can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase, and parathyroid hormone are normal. The typical age at clinical onset is between 30 and 50 years (summary by Wang et al., 2012). Calcification of the basal ganglia is a nonspecific finding in many medical conditions, including infectious, metabolic, and genetic syndromes. In addition, calcification of the basal ganglia is observed as an incidental finding in approximately 0.7 to 1.2% of CT scans (Koller et al., 1979; Harrington et al., 1981; Forstl et al., 1992). These incidental calcifications are usually benign and have no clear etiology, especially in patients over 60 years of age (Geschwind et al., 1999). Forstl et al. (1992) found no increased risk for dementia, cerebral infarction, seizures, alcoholism, vertigo, or headache in 166 patients with calcification of the basal ganglia compared to 622 individuals without calcification. (213600)

NINDS : 53 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.

KEGG : 36 Familial idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is an inherited neurological disorder characterized by symmetric calcification in the basal ganglia and other brain regions, a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures and chronic headache, and normal serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone. The typical age at clinical onset is between 30 and 50 years, and most individuals affected with IBGC are asymptomatic during childhood and young adulthood. The diagnosis of IBGC generally relies on the visualization of bilateral calcification mainly in the basal ganglia by neuroimaging and the absence of metabolic, infectious, toxic, or traumatic causes. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. The mutations in SLC20A2 encoding type III sodium-dependent phosphate transporter 2 (PiT-2) are a major cause of familial IBGC. Recently the mutations of PDGFRB encoding platelet-derived growth factor (PDGF) receptor-beta, PDGFB encoding the PDGFR receptor-beta main ligand and XRP1 encoding a retroviral receptor have been reported to cause calcification in the brain.

UniProtKB/Swiss-Prot : 73 Basal ganglia calcification, idiopathic, 1: A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.

Wikipedia : 74 Primary familial brain calcification (PFBC), also known as familial idiopathic basal ganglia... more...

GeneReviews: NBK1421

Related Diseases for Basal Ganglia Calcification, Idiopathic, 1

Diseases in the Basal Ganglia Calcification, Idiopathic, 1 family:

Basal Ganglia Calcification, Idiopathic, 4 Basal Ganglia Calcification, Idiopathic, 5
Basal Ganglia Calcification, Idiopathic, 6 Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

Diseases related to Basal Ganglia Calcification, Idiopathic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 basal ganglia calcification 30.2 XPR1 SLC20A2 PDGFRB PDGFB MYORG
2 dystonia 28.6 XPR1 SLC20A2 PDGFRB PDGFB
3 basal ganglia calcification, idiopathic, childhood-onset 11.6
4 basal ganglia calcification, idiopathic, 4 11.2
5 basal ganglia calcification, idiopathic, 5 11.2
6 basal ganglia calcification, idiopathic, 6 11.2
7 basal ganglia calcification, idiopathic, 7, autosomal recessive 11.2
8 movement disease 10.4
9 hypoparathyroidism 10.3
10 speech disorder 10.3
11 aicardi-goutieres syndrome 1 10.3
12 autoimmune disease 10.2
13 frontotemporal dementia 10.2
14 psoriasis 14, pustular 10.2
15 chorea, childhood-onset, with psychomotor retardation 10.2
16 hyperphosphatemia 10.2
17 choreatic disease 10.2
18 astrocytoma 10.2
19 pseudohypoparathyroidism 10.2
20 pustulosis of palm and sole 10.2
21 monoclonal gammopathy of uncertain significance 10.2
22 psoriasis 10.2
23 lingual-facial-buccal dyskinesia 10.2
24 hereditary dystonia 10.2
25 athetosis 10.2
26 pustular psoriasis 10.2
27 syncope 10.2
28 supranuclear palsy, progressive, 1 10.2
29 mood disorder 10.2
30 major affective disorder 1 10.2
31 major affective disorder 8 10.2
32 major affective disorder 9 10.2
33 dementia 10.2
34 bipolar disorder 10.2
35 migraine with or without aura 1 10.1
36 schizophrenia 10.1
37 cutaneous t cell lymphoma 10.1
38 glioblastoma multiforme 10.1
39 poliomyelitis 10.1
40 diabetes mellitus 10.1
41 pure autonomic failure 10.1
42 early-onset generalized limb-onset dystonia 10.1
43 multiple sclerosis 10.0
44 multiple system atrophy 1 10.0
45 arterial calcification, generalized, of infancy, 1 10.0
46 autism 10.0
47 neurodegeneration with brain iron accumulation 1 10.0
48 aspiration pneumonia 10.0
49 spasmodic dystonia 10.0
50 autism spectrum disorder 10.0

Graphical network of the top 20 diseases related to Basal Ganglia Calcification, Idiopathic, 1:



Diseases related to Basal Ganglia Calcification, Idiopathic, 1

Symptoms & Phenotypes for Basal Ganglia Calcification, Idiopathic, 1

Human phenotypes related to Basal Ganglia Calcification, Idiopathic, 1:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 cerebral calcification 58 31 hallmark (90%) Very frequent (99-80%) HP:0002514
3 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
4 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
5 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
6 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
7 ventriculomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002119
8 abnormality of neuronal migration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002269
9 subcutaneous hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0001933
10 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
11 abnormal pyramidal sign 31 occasional (7.5%) HP:0007256
12 depressivity 31 HP:0000716
13 dysarthria 31 HP:0001260
14 gait disturbance 31 HP:0001288
15 tremor 31 HP:0001337
16 hyperreflexia 31 HP:0001347
17 chorea 31 HP:0002072
18 memory impairment 31 HP:0002354
19 dystonia 31 HP:0001332
20 mask-like facies 31 HP:0000298
21 rigidity 31 HP:0002063
22 psychosis 31 HP:0000709
23 mental deterioration 31 HP:0001268
24 dysdiadochokinesis 31 HP:0002075
25 bradykinesia 31 HP:0002067
26 abnormality of the liver 58 Frequent (79-30%)
27 urinary incontinence 31 HP:0000020
28 parkinsonism 31 HP:0001300
29 athetosis 31 HP:0002305
30 postural instability 31 HP:0002172
31 micrographia 31 HP:0031908
32 limb dysmetria 31 HP:0002406
33 basal ganglia calcification 31 HP:0002135
34 dense calcifications in the cerebellar dentate nucleus 31 HP:0002461
35 calcification of the small brain vessels 31 HP:0002504

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dysarthria
gait disturbance
tremor
hyperreflexia
chorea
more
Genitourinary Bladder:
urinary incontinence

Neurologic Behavioral Psychiatric Manifestations:
psychosis
depression
psychiatric disturbances

Laboratory Abnormalities:
normal serum calcium
normal serum phosphorus
normal ellsworth-howard test, normal urinary camp response to parathyroid hormone (pth) administration
mildly decreased phosphaturic response to pth administration has been reported in some cases

Clinical features from OMIM:

213600

UMLS symptoms related to Basal Ganglia Calcification, Idiopathic, 1:


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

Drugs & Therapeutics for Basal Ganglia Calcification, Idiopathic, 1

Search Clinical Trials , NIH Clinical Center for Basal Ganglia Calcification, Idiopathic, 1

Genetic Tests for Basal Ganglia Calcification, Idiopathic, 1

Genetic tests related to Basal Ganglia Calcification, Idiopathic, 1:

# Genetic test Affiliating Genes
1 Idiopathic Basal Ganglia Calcification 1 29 PDGFB PDGFRB SLC20A2
2 Primary Familial Brain Calcification 29

Anatomical Context for Basal Ganglia Calcification, Idiopathic, 1

MalaCards organs/tissues related to Basal Ganglia Calcification, Idiopathic, 1:

40
Brain, Cortex, Eye, Liver, Testes, Thalamus, Bone

Publications for Basal Ganglia Calcification, Idiopathic, 1

Articles related to Basal Ganglia Calcification, Idiopathic, 1:

(show top 50) (show all 171)
# Title Authors PMID Year
1
Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2. 24 61 56 6
27671522 2016
2
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. 6 56 24
22327515 2012
3
Parkinsonism associated with autosomal dominant bilateral striopallidodentate calcinosis. 56 6 24
11344012 2001
4
Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). 24 56 6
10441584 1999
5
Familial idiopathic cerebral calcifications. 56 6 24
886353 1977
6
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. 6 24 61
25938945 2015
7
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. 6 56
23334463 2013
8
Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification. 6 56
20552677 2010
9
Exclusion of linkage to chromosome 14q in a large South Tyrolean family with Idiopathic Basal Ganglia Calcification (IBGC). 6 56
18361429 2008
10
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). 6 56
15596772 2004
11
Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q. 6 56
11810290 2002
12
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. 6 24
23913003 2013
13
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. 24 6
23255827 2013
14
2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family. 56 24
19757205 2009
15
Density of the brain, decline of the mind: an atypical case of Fahr disease. 24 56
17502478 2007
16
What is and what is not 'Fahr's disease'. 56 24
15734663 2005
17
Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. 24 56
11295778 2001
18
Non-progressive familial idiopathic intracranial calcification: a family report. 24 56
7561925 1995
19
Bilateral striopallidodentate calcinosis: cerebrospinal fluid, imaging, and electrophysiological studies. 24 56
1586138 1992
20
Neurological disorders in 166 patients with basal ganglia calcification: a statistical evaluation. 24 56
1541967 1992
21
Familial idiopathic striopallidodentate calcifications. 56 24
2927646 1989
22
Idiopathic familial basal ganglia calcification associated with juvenile hypertension. 24 56
7373329 1980
23
Familial calcification of the basal ganglions: a metabolic and genetic study. 56 24
4326703 1971
24
Calcification of the corpus stiatum and dentate nuclei occurring in a family. 24 56
14898295 1951
25
Primary Familial Brain Calcification 61 6
20301594 2004
26
Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2. 61 24
27726124 2017
27
XPR1 mutations are a rare cause of primary familial brain calcification. 24 61
27230854 2016
28
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. 61 24
25726928 2015
29
First report of a de novo mutation at SLC20A2 in a patient with brain calcification. 24 61
24969325 2014
30
Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan. 56
24463626 2014
31
Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification. 6
21409505 2011
32
Diffuse intracranial calcinosis: Fahr disease. 56
17172625 2006
33
Familial idiopathic brain calcification with autosomal dominant inheritance. 56
9065541 1997
34
Familial idiopathic strio-pallido-dentate calcifications with late onset extrapyramidal syndrome. 56
8474495 1993
35
Familial calcification of the basal ganglia: a case report and review of the literature. 56
1410084 1992
36
Adult onset idiopathic familial brain calcifications. 56
6508450 1984
37
Progressive idiopathic strio-pallido-dentate calcinosis (Fahr's disease) with autosomal recessive inheritance. Report of three siblings. 56
6840142 1983
38
The significance of the incidental finding of basal ganglia calcification on computed tomography. 56
7334414 1981
39
Familial basal ganglia calcification and schizophreniform psychosis. 56
519120 1979
40
Calcification of the basal ganglia: computerized tomography and clinical correlation. 56
571978 1979
41
Cerebral calcinosis with late onset encephalopathy. Unusual type of pseudo-pseudohypoparathyreoidism. 56
200054 1977
42
Idiopathic familial cerebrovascular ferrocalcinosis (Fahr's disease) and review of differential diagnosis of intracranial calcification in children. 56
4179335 1969
43
FAMILIAL BILATERAL VASCULAR CALCIFICATION IN THE CENTRAL NERVOUS SYSTEM. 56
14207403 1964
44
Familial hypocalcemia, latent tetany and calcification of the basal ganglia. Report of a kindred. 56
13728765 1961
45
Familial calcification of the cerebral basal ganglia and its relation to hypoparathyroidism. 56
14437830 1959
46
[Familial symmetrical brain calcification]. 56
13624656 1958
47
Familial calcification of the basal ganglia with response to parathormone. 56
13463615 1957
48
Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes. 24
28162874 2017
49
Primary Brain Calcification Causal PiT2 Transport-Knockout Variants can Exert Dominant Negative Effects on Wild-Type PiT2 Transport Function in Mammalian Cells. 24
27943094 2017
50
Platelet-derived growth factor receptors (PDGFRs) fusion genes involvement in hematological malignancies. 24
28010895 2017

Variations for Basal Ganglia Calcification, Idiopathic, 1

ClinVar genetic disease variations for Basal Ganglia Calcification, Idiopathic, 1:

6 (show top 50) (show all 79) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC20A2 NM_001257180.2(SLC20A2):c.1492G>A (p.Gly498Arg)SNV Pathogenic 29793 8:42294538-42294538 8:42437020-42437020
2 SLC20A2 NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp)SNV Pathogenic 29794 rs387906652 8:42275478-42275478 8:42417960-42417960
3 SLC20A2 NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu)SNV Pathogenic 29795 rs387906652 8:42275478-42275478 8:42417960-42417960
4 SLC20A2 NM_001257180.2(SLC20A2):c.1784C>T (p.Thr595Met)SNV Pathogenic 29797 rs387906654 8:42286286-42286286 8:42428768-42428768
5 SLC20A2 NM_001257180.2(SLC20A2):c.1828_1831del (p.Ser610fs)deletion Pathogenic 75231 rs398122396 8:42275449-42275452 8:42417931-42417934
6 SLC20A2 NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs)deletion Pathogenic 75233 rs398122397 8:42317443-42317444 8:42459925-42459926
7 SLC20A2 NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer)deletion Pathogenic 280118 rs398122395 8:42320530-42320530 8:42463012-42463012
8 SLC20A2 NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter)SNV Pathogenic 522850 rs387906653 8:42286347-42286347 8:42428829-42428829
9 SLC20A2 NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter)SNV Pathogenic 522849 rs751093906 8:42329773-42329773 8:42472255-42472255
10 SLC20A2 NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter)SNV Pathogenic 584447 rs1563452941 8:42294655-42294655 8:42437137-42437137
11 SLC20A2 NM_001257180.2(SLC20A2):c.935-2A>GSNV Pathogenic 636249 8:42295097-42295097 8:42437579-42437579
12 SLC20A2 SLC20A2, EX6-10DELdeletion Pathogenic 691908
13 SLC20A2 NM_001257180.2(SLC20A2):c.1520_1521del (p.Val507fs)deletion Likely pathogenic 634891 rs1563452322 8:42294509-42294510 8:42436992-42436993
14 SLC20A2 NM_001257180.2(SLC20A2):c.1196A>C (p.His399Pro)SNV Likely pathogenic 634894 rs1563453866 8:42294834-42294834 8:42437316-42437316
15 SLC20A2 NM_001257180.2(SLC20A2):c.303del (p.Trp101fs)deletion Likely pathogenic 634896 rs1563490467 8:42323422-42323422 8:42465905-42465905
16 SLC20A2 NM_001257180.2(SLC20A2):c.188G>A (p.Gly63Asp)SNV Likely pathogenic 634892 rs1563497714 8:42329721-42329721 8:42472203-42472203
17 SLC20A2 NM_001257180.2(SLC20A2):c.187G>A (p.Gly63Ser)SNV Likely pathogenic 634893 rs1563497719 8:42329722-42329722 8:42472204-42472204
18 SLC20A2 NM_001257180.2(SLC20A2):c.21del (p.Leu7fs)deletion Likely pathogenic 634898 rs1563498184 8:42329888-42329888 8:42472370-42472370
19 SLC20A2 NC_000008.10:g.(42297172_42302163)_(42302281_42317413)deldeletion Likely pathogenic 634895 8:42297172-42317413 8:42439654-42459895
20 SLC20A2 NC_000008.10:g.(?_42275320)_(42297172_42302163)deldeletion Likely pathogenic 634890 8:42275320-42302163 8:42417802-42444645
21 SLC20A2 NM_001257180.2(SLC20A2):c.1795-1G>ASNV Likely pathogenic 634897 rs1563431044 8:42275486-42275486 8:42417968-42417968
22 CHRNA6 , CHRNB3 , FNTA , HOOK3 , RNF170 , SLC20A2 , SMIM19 , THAP1 deletion Likely pathogenic 236030 8:42338721-42916885
23 SLC20A2 NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)SNV Likely pathogenic 29796 rs387906653 8:42286347-42286347 8:42428829-42428829
24 SLC20A2 NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=)SNV Conflicting interpretations of pathogenicity 363084 rs116122164 8:42297056-42297056 8:42439538-42439538
25 SLC20A2 NM_001257180.2(SLC20A2):c.186A>G (p.Leu62=)SNV Uncertain significance 363093 rs201586836 8:42329723-42329723 8:42472205-42472205
26 SLC20A2 NM_006749.5(SLC20A2):c.-265+7dupduplication Uncertain significance 363096 rs1554579481 8:42396956-42396956 8:42541813-42541813
27 SLC20A2 NM_006749.5(SLC20A2):c.-265+3dupduplication Uncertain significance 363097 rs1554579488 8:42396959-42396959 8:42541816-42541816
28 SLC20A2 NM_006749.5(SLC20A2):c.-389G>ASNV Uncertain significance 363100 rs574357175 8:42397088-42397088 8:42541945-42541945
29 SLC20A2 NM_138436.4(SMIM19):c.-5+287G>ASNV Uncertain significance 363101 rs969584653 8:42397135-42397135 8:42541992-42541992
30 SLC20A2 NM_138436.4(SMIM19):c.-5+419G>TSNV Uncertain significance 363104 rs1003849503 8:42397267-42397267 8:42542124-42542124
31 SLC20A2 NM_001257180.2(SLC20A2):c.*1069G>CSNV Uncertain significance 363052 rs1010204441 8:42274252-42274252 8:42416734-42416734
32 SLC20A2 NM_001257180.2(SLC20A2):c.1576G>T (p.Val526Leu)SNV Uncertain significance 363070 rs1420760497 8:42287715-42287715 8:42430197-42430197
33 SLC20A2 NM_001257180.2(SLC20A2):c.*660T>CSNV Uncertain significance 363055 rs1211116059 8:42274661-42274661 8:42417143-42417143
34 SLC20A2 NM_001257180.2(SLC20A2):c.1090G>A (p.Asp364Asn)SNV Uncertain significance 363076 rs748895007 8:42294940-42294940 8:42437422-42437422
35 SLC20A2 NM_001257180.2(SLC20A2):c.883C>T (p.Leu295=)SNV Uncertain significance 363082 rs1212922301 8:42297019-42297019 8:42439501-42439501
36 SLC20A2 NM_138436.4(SMIM19):c.-5+308C>ASNV Uncertain significance 363102 rs1206770675 8:42397156-42397156 8:42542013-42542013
37 SLC20A2 NM_001257180.2(SLC20A2):c.*538C>TSNV Uncertain significance 363057 rs746914329 8:42274783-42274783 8:42417265-42417265
38 SLC20A2 NM_001257180.2(SLC20A2):c.*289A>CSNV Uncertain significance 363061 rs892436898 8:42275032-42275032 8:42417514-42417514
39 SLC20A2 NM_001257180.2(SLC20A2):c.*171G>ASNV Uncertain significance 363063 rs908206225 8:42275150-42275150 8:42417632-42417632
40 SLC20A2 NM_001257180.2(SLC20A2):c.834G>A (p.Lys278=)SNV Uncertain significance 363085 rs778920007 8:42297068-42297068 8:42439550-42439550
41 SLC20A2 NM_001257180.2(SLC20A2):c.1377G>T (p.Glu459Asp)SNV Uncertain significance 363073 rs144428935 8:42294653-42294653 8:42437135-42437135
42 SLC20A2 NM_006749.5(SLC20A2):c.-288G>CSNV Uncertain significance 363098 rs1554579510 8:42396987-42396987 8:42541844-42541844
43 SLC20A2 NM_001257180.2(SLC20A2):c.*124G>TSNV Uncertain significance 363064 rs948433091 8:42275197-42275197 8:42417679-42417679
44 SLC20A2 NM_001257180.2(SLC20A2):c.1803G>A (p.Ser601=)SNV Uncertain significance 363069 rs761069656 8:42275477-42275477 8:42417959-42417959
45 SLC20A2 NM_001257180.2(SLC20A2):c.*926C>TSNV Likely benign 363054 rs575143642 8:42274395-42274395 8:42416877-42416877
46 SLC20A2 NM_138436.4(SMIM19):c.-5+385T>ASNV Likely benign 363103 rs113755761 8:42397233-42397233 8:42542090-42542090
47 SLC20A2 NM_001257180.2(SLC20A2):c.678C>T (p.Phe226=)SNV Likely benign 363088 rs116687117 8:42302216-42302216 8:42444698-42444698
48 SLC20A2 NM_001257180.2(SLC20A2):c.553G>C (p.Val185Leu)SNV Likely benign 363089 rs188325552 8:42317474-42317474 8:42459956-42459956
49 SLC20A2 NM_001257180.2(SLC20A2):c.290-5T>CSNV Likely benign 363091 rs371924916 8:42323440-42323440 8:42465922-42465922
50 SLC20A2 NM_001257180.2(SLC20A2):c.787G>A (p.Val263Ile)SNV Likely benign 363086 rs369823081 8:42297115-42297115 8:42439597-42439597

UniProtKB/Swiss-Prot genetic disease variations for Basal Ganglia Calcification, Idiopathic, 1:

73 (show all 17)
# Symbol AA change Variation ID SNP ID
1 SLC20A2 p.Gly498Arg VAR_067546
2 SLC20A2 p.Glu575Lys VAR_067547 rs387906653
3 SLC20A2 p.Thr595Met VAR_067548 rs387906654
4 SLC20A2 p.Ser601Leu VAR_067549 rs387906652
5 SLC20A2 p.Ser601Trp VAR_067550 rs387906652
6 SLC20A2 p.Ile11Leu VAR_072255 rs201836672
7 SLC20A2 p.Asp28Asn VAR_072256 rs155456109
8 SLC20A2 p.Ala51Val VAR_072257
9 SLC20A2 p.Leu62Pro VAR_072258
10 SLC20A2 p.Arg71His VAR_072259
11 SLC20A2 p.Thr115Met VAR_072260 rs775911275
12 SLC20A2 p.Arg382Gln VAR_072261 rs200010919
13 SLC20A2 p.Ser434Trp VAR_072262 rs135761593
14 SLC20A2 p.His502Gln VAR_072263
15 SLC20A2 p.Pro568Leu VAR_072264 rs763252801
16 SLC20A2 p.Ser637Arg VAR_072265
17 SLC20A2 p.Gly571Ser VAR_075398 rs138899274

Expression for Basal Ganglia Calcification, Idiopathic, 1

Search GEO for disease gene expression data for Basal Ganglia Calcification, Idiopathic, 1.

Pathways for Basal Ganglia Calcification, Idiopathic, 1

Pathways related to Basal Ganglia Calcification, Idiopathic, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.64 PDGFRB PDGFB
2 11.56 PDGFRB PDGFB
3 11.46 PDGFRB PDGFB
4 11.45 PDGFRB PDGFB
5 11.31 PDGFRB PDGFB
6 11.05 PDGFRB PDGFB
7 10.89 PDGFRB PDGFB
8 10.32 PDGFRB PDGFB
9 9.77 PDGFRB PDGFB
10 9.63 PDGFRB PDGFB

GO Terms for Basal Ganglia Calcification, Idiopathic, 1

Cellular components related to Basal Ganglia Calcification, Idiopathic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intrinsic component of plasma membrane GO:0031226 8.62 XPR1 PDGFRB

Biological processes related to Basal Ganglia Calcification, Idiopathic, 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine phosphorylation GO:0018108 9.58 PDGFRB PDGFB
2 cell chemotaxis GO:0060326 9.58 PDGFRB PDGFB
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.57 PDGFRB PDGFB
4 viral entry into host cell GO:0046718 9.56 XPR1 SLC20A2
5 positive regulation of MAP kinase activity GO:0043406 9.55 PDGFRB PDGFB
6 positive regulation of smooth muscle cell proliferation GO:0048661 9.54 PDGFRB PDGFB
7 positive regulation of fibroblast proliferation GO:0048146 9.52 PDGFRB PDGFB
8 platelet-derived growth factor receptor signaling pathway GO:0048008 9.51 PDGFRB PDGFB
9 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.49 PDGFRB PDGFB
10 positive regulation of reactive oxygen species metabolic process GO:2000379 9.48 PDGFRB PDGFB
11 positive regulation of mitotic nuclear division GO:0045840 9.46 PDGFRB PDGFB
12 positive regulation of smooth muscle cell migration GO:0014911 9.43 PDGFRB PDGFB
13 positive regulation of protein kinase B signaling GO:0051897 9.43 PDGFRB PDGFB MYORG
14 positive regulation of calcium ion import GO:0090280 9.4 PDGFRB PDGFB
15 positive regulation of chemotaxis GO:0050921 9.37 PDGFRB PDGFB
16 positive regulation of DNA biosynthetic process GO:2000573 9.32 PDGFRB PDGFB
17 phosphate ion transmembrane transport GO:0035435 9.16 XPR1 SLC20A2
18 phosphate ion transport GO:0006817 8.96 XPR1 SLC20A2
19 positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway GO:0035793 8.62 PDGFRB PDGFB

Molecular functions related to Basal Ganglia Calcification, Idiopathic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 virus receptor activity GO:0001618 9.16 XPR1 SLC20A2
2 platelet-derived growth factor receptor binding GO:0005161 8.96 PDGFRB PDGFB
3 platelet-derived growth factor binding GO:0048407 8.62 PDGFRB PDGFB

Sources for Basal Ganglia Calcification, Idiopathic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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