IBGC1
MCID: BSL038
MIFTS: 33

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 57 75
Ibgc1 57 75
Bspdc 57 75
Basal Ganglia Calcification, Idiopathic, 3, Formerly; Ibgc3, Formerly 57
Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset 57
Non-Arteriosclerotic, Idiopathic, Adult-Onset Cerebral Calcification 75
Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset 57
Autosomal Dominant Adult-Onset Striopallidodentate Calcinosis 75
Basal Ganglia Calcification, Idiopathic, 3, Formerly 57
Striopallidodentate Calcinosis, Bilateral; Bspdc 57
Striopallidodentate Calcinosis, Bilateral 57
Bilateral Striopallidodentate Calcinosis 75
Idiopathic Basal Ganglia Calcification 3 75
Primary Familial Brain Calcification 75
Ferrocalcinosis, Cerebrovascular 57
Fahr Disease, Familial, Formerly 57
Ferrocalcinosis Cerebro Vascular 76
Cerebrovascular Ferrocalcinosis 75
Familial Fahr Disease 75
Ibgc3, Formerly 57
Fahr's Syndrome 73
Ibgc3 75
Pfbc 75

Characteristics:

OMIM:

57
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:

32
basal ganglia calcification, idiopathic, 1:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Basal Ganglia Calcification, Idiopathic, 1

OMIM : 57 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)

MalaCards based summary : Basal Ganglia Calcification, Idiopathic, 1, also known as ibgc1, is related to basal ganglia calcification, idiopathic, childhood-onset and primary familial brain calcification, 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). Affiliated tissues include brain, cortex and eye, and related phenotypes are depressivity and seizures

NINDS : 54 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.

UniProtKB/Swiss-Prot : 75 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 : 76 Idiopathic basal ganglia calcification, also known as Fahr disease, is a rare,genetically dominant,... more...

Related Diseases for Basal Ganglia Calcification, Idiopathic, 1

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

Symptoms via clinical synopsis from OMIM:

57
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

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

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

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


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

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

Anatomical Context for Basal Ganglia Calcification, Idiopathic, 1

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

41
Brain, Cortex, Eye, Testes, Thalamus

Publications for Basal Ganglia Calcification, Idiopathic, 1

Articles related to Basal Ganglia Calcification, Idiopathic, 1:

# Title Authors Year
1
Living with idiopathic basal ganglia calcification 3: a qualitative study describing the lives and illness of people diagnosed with a rare neurological disease. ( 27777849 )
2016

Variations for Basal Ganglia Calcification, Idiopathic, 1

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

75 (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
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

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

6 (show top 50) (show all 134)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC20A2 SLC20A2, GLY498ARG single nucleotide variant Pathogenic
2 SLC20A2 NM_001257180.1(SLC20A2): c.1802C> G (p.Ser601Trp) single nucleotide variant Pathogenic rs387906652 GRCh37 Chromosome 8, 42275478: 42275478
3 SLC20A2 NM_001257180.1(SLC20A2): c.1802C> G (p.Ser601Trp) single nucleotide variant Pathogenic rs387906652 GRCh38 Chromosome 8, 42417960: 42417960
4 SLC20A2 NM_001257180.1(SLC20A2): c.1802C> T (p.Ser601Leu) single nucleotide variant Pathogenic rs387906652 GRCh37 Chromosome 8, 42275478: 42275478
5 SLC20A2 NM_001257180.1(SLC20A2): c.1802C> T (p.Ser601Leu) single nucleotide variant Pathogenic rs387906652 GRCh38 Chromosome 8, 42417960: 42417960
6 SLC20A2 NM_006749.4(SLC20A2): c.1723G> A (p.Glu575Lys) single nucleotide variant Pathogenic rs387906653 GRCh37 Chromosome 8, 42286347: 42286347
7 SLC20A2 NM_006749.4(SLC20A2): c.1723G> A (p.Glu575Lys) single nucleotide variant Pathogenic rs387906653 GRCh38 Chromosome 8, 42428829: 42428829
8 SLC20A2 NM_006749.4(SLC20A2): c.1784C> T (p.Thr595Met) single nucleotide variant Pathogenic rs387906654 GRCh37 Chromosome 8, 42286286: 42286286
9 SLC20A2 NM_006749.4(SLC20A2): c.1784C> T (p.Thr595Met) single nucleotide variant Pathogenic rs387906654 GRCh38 Chromosome 8, 42428768: 42428768
10 SLC20A2 NM_006749.4(SLC20A2): c.1828_1831delTCCC (p.Ser610Alafs) deletion Pathogenic rs398122396 GRCh37 Chromosome 8, 42275449: 42275452
11 SLC20A2 NM_006749.4(SLC20A2): c.1828_1831delTCCC (p.Ser610Alafs) deletion Pathogenic rs398122396 GRCh38 Chromosome 8, 42417931: 42417934
12 SLC20A2 NM_006749.4(SLC20A2): c.583_584delGT (p.Val195Leufs) deletion Pathogenic rs398122397 GRCh37 Chromosome 8, 42317443: 42317444
13 SLC20A2 NM_006749.4(SLC20A2): c.583_584delGT (p.Val195Leufs) deletion Pathogenic rs398122397 GRCh38 Chromosome 8, 42459925: 42459926
14 CHRNA6; CHRNB3; FNTA; HOOK3; RNF170; SLC20A2; SMIM19; THAP1 NC_000008.10: g.42338721_42916885del578165 deletion Likely pathogenic GRCh37 Chromosome 8, 42338721: 42916885
15 SLC20A2 NM_006749.4(SLC20A2): c.509delT (p.Leu170Terfs) deletion Pathogenic rs398122395 GRCh37 Chromosome 8, 42320530: 42320530
16 SLC20A2 NM_006749.4(SLC20A2): c.509delT (p.Leu170Terfs) deletion Pathogenic rs398122395 GRCh38 Chromosome 8, 42463012: 42463012
17 SLC20A2 NM_006749.4(SLC20A2): c.1812C> T (p.Ala604=) single nucleotide variant Benign/Likely benign rs116401889 GRCh37 Chromosome 8, 42275468: 42275468
18 SLC20A2 NM_006749.4(SLC20A2): c.1812C> T (p.Ala604=) single nucleotide variant Benign/Likely benign rs116401889 GRCh38 Chromosome 8, 42417950: 42417950
19 SLC20A2 NM_006749.4(SLC20A2): c.58T> C (p.Leu20=) single nucleotide variant Benign/Likely benign rs115993270 GRCh37 Chromosome 8, 42329851: 42329851
20 SLC20A2 NM_006749.4(SLC20A2): c.58T> C (p.Leu20=) single nucleotide variant Benign/Likely benign rs115993270 GRCh38 Chromosome 8, 42472333: 42472333
21 SLC20A2 NM_006749.4(SLC20A2): c.*926C> T single nucleotide variant Likely benign rs575143642 GRCh37 Chromosome 8, 42274395: 42274395
22 SLC20A2 NM_006749.4(SLC20A2): c.*926C> T single nucleotide variant Likely benign rs575143642 GRCh38 Chromosome 8, 42416877: 42416877
23 SLC20A2 NM_006749.4(SLC20A2): c.*538C> T single nucleotide variant Uncertain significance rs746914329 GRCh37 Chromosome 8, 42274783: 42274783
24 SLC20A2 NM_006749.4(SLC20A2): c.*538C> T single nucleotide variant Uncertain significance rs746914329 GRCh38 Chromosome 8, 42417265: 42417265
25 SLC20A2 NM_006749.4(SLC20A2): c.*409A> G single nucleotide variant Likely benign rs190717111 GRCh37 Chromosome 8, 42274912: 42274912
26 SLC20A2 NM_006749.4(SLC20A2): c.*409A> G single nucleotide variant Likely benign rs190717111 GRCh38 Chromosome 8, 42417394: 42417394
27 SLC20A2 NM_006749.4(SLC20A2): c.*289A> C single nucleotide variant Uncertain significance rs892436898 GRCh37 Chromosome 8, 42275032: 42275032
28 SLC20A2 NM_006749.4(SLC20A2): c.*289A> C single nucleotide variant Uncertain significance rs892436898 GRCh38 Chromosome 8, 42417514: 42417514
29 SLC20A2 NM_006749.4(SLC20A2): c.*171G> A single nucleotide variant Uncertain significance rs908206225 GRCh37 Chromosome 8, 42275150: 42275150
30 SLC20A2 NM_006749.4(SLC20A2): c.*171G> A single nucleotide variant Uncertain significance rs908206225 GRCh38 Chromosome 8, 42417632: 42417632
31 SLC20A2 NM_006749.4(SLC20A2): c.1911C> T (p.Ser637=) single nucleotide variant Likely benign rs141545390 GRCh37 Chromosome 8, 42275369: 42275369
32 SLC20A2 NM_006749.4(SLC20A2): c.1911C> T (p.Ser637=) single nucleotide variant Likely benign rs141545390 GRCh38 Chromosome 8, 42417851: 42417851
33 SLC20A2 NM_006749.4(SLC20A2): c.1572C> T (p.Gly524=) single nucleotide variant Likely benign rs116795654 GRCh37 Chromosome 8, 42287719: 42287719
34 SLC20A2 NM_006749.4(SLC20A2): c.1572C> T (p.Gly524=) single nucleotide variant Likely benign rs116795654 GRCh38 Chromosome 8, 42430201: 42430201
35 SLC20A2 NM_006749.4(SLC20A2): c.1438G> A (p.Ala480Thr) single nucleotide variant Benign/Likely benign rs79577461 GRCh37 Chromosome 8, 42294592: 42294592
36 SLC20A2 NM_006749.4(SLC20A2): c.1438G> A (p.Ala480Thr) single nucleotide variant Benign/Likely benign rs79577461 GRCh38 Chromosome 8, 42437074: 42437074
37 SLC20A2 NM_006749.4(SLC20A2): c.1377G> T (p.Glu459Asp) single nucleotide variant Uncertain significance rs144428935 GRCh37 Chromosome 8, 42294653: 42294653
38 SLC20A2 NM_006749.4(SLC20A2): c.1377G> T (p.Glu459Asp) single nucleotide variant Uncertain significance rs144428935 GRCh38 Chromosome 8, 42437135: 42437135
39 SLC20A2 NM_006749.4(SLC20A2): c.909G> A (p.Ala303=) single nucleotide variant Benign/Likely benign rs75248974 GRCh37 Chromosome 8, 42296993: 42296993
40 SLC20A2 NM_006749.4(SLC20A2): c.909G> A (p.Ala303=) single nucleotide variant Benign/Likely benign rs75248974 GRCh38 Chromosome 8, 42439475: 42439475
41 SLC20A2 NM_006749.4(SLC20A2): c.834G> A (p.Lys278=) single nucleotide variant Uncertain significance rs778920007 GRCh37 Chromosome 8, 42297068: 42297068
42 SLC20A2 NM_006749.4(SLC20A2): c.834G> A (p.Lys278=) single nucleotide variant Uncertain significance rs778920007 GRCh38 Chromosome 8, 42439550: 42439550
43 SLC20A2 NM_006749.4(SLC20A2): c.787G> A (p.Val263Ile) single nucleotide variant Likely benign rs369823081 GRCh37 Chromosome 8, 42297115: 42297115
44 SLC20A2 NM_006749.4(SLC20A2): c.787G> A (p.Val263Ile) single nucleotide variant Likely benign rs369823081 GRCh38 Chromosome 8, 42439597: 42439597
45 SLC20A2 NM_006749.4(SLC20A2): c.345G> A (p.Thr115=) single nucleotide variant Likely benign rs34124953 GRCh37 Chromosome 8, 42323380: 42323380
46 SLC20A2 NM_006749.4(SLC20A2): c.345G> A (p.Thr115=) single nucleotide variant Likely benign rs34124953 GRCh38 Chromosome 8, 42465862: 42465862
47 SLC20A2 NM_006749.4(SLC20A2): c.290-13C> A single nucleotide variant Likely benign rs114824268 GRCh37 Chromosome 8, 42323448: 42323448
48 SLC20A2 NM_006749.4(SLC20A2): c.290-13C> A single nucleotide variant Likely benign rs114824268 GRCh38 Chromosome 8, 42465930: 42465930
49 SLC20A2 NM_006749.4(SLC20A2): c.-89A> G single nucleotide variant Likely benign rs185590768 GRCh37 Chromosome 8, 42329997: 42329997
50 SLC20A2 NM_006749.4(SLC20A2): c.-89A> G single nucleotide variant Likely benign rs185590768 GRCh38 Chromosome 8, 42472479: 42472479

Expression for Basal Ganglia Calcification, Idiopathic, 1

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GO Terms for Basal Ganglia Calcification, Idiopathic, 1

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