IBGC1
MCID: BSL038
MIFTS: 36

Basal Ganglia Calcification, Idiopathic, 1 (IBGC1)

Categories: Genetic diseases, Mental diseases, Neuronal 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 74 13
Ibgc1 57 74
Bspdc 57 74
Basal Ganglia Calcification, Idiopathic, 3, Formerly; Ibgc3, Formerly 57
Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset 57
Non-Arteriosclerotic, Idiopathic, Adult-Onset Cerebral Calcification 74
Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset 57
Autosomal Dominant Adult-Onset Striopallidodentate Calcinosis 74
Basal Ganglia Calcification, Idiopathic, 3, Formerly 57
Striopallidodentate Calcinosis, Bilateral; Bspdc 57
Calcification, Basal Ganglia, Idiopathic, Type 1 40
Striopallidodentate Calcinosis, Bilateral 57
Bilateral Striopallidodentate Calcinosis 74
Idiopathic Basal Ganglia Calcification 3 74
Primary Familial Brain Calcification 74
Ferrocalcinosis, Cerebrovascular 57
Fahr Disease, Familial, Formerly 57
Ferrocalcinosis Cerebro Vascular 75
Cerebrovascular Ferrocalcinosis 74
Familial Fahr Disease 74
Ibgc3, Formerly 57
Fahr's Syndrome 72
Ibgc3 74
Pfbc 74

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:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset


Classifications:



External Ids:

UMLS 72 C0393590

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 basal ganglia calcification, idiopathic, 2, 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 seizures and cerebral calcification

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 : 74 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 : 75 Primary familial brain calcification (PFBC), also known as familial idiopathic basal ganglia... more...

Related Diseases for Basal Ganglia Calcification, Idiopathic, 1

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

Basal Ganglia Calcification, Idiopathic, 2 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 all 49)
# Related Disease Score Top Affiliating Genes
1 basal ganglia calcification, idiopathic, childhood-onset 11.6
2 basal ganglia calcification, idiopathic, 2 11.5
3 basal ganglia calcification, idiopathic, 4 11.2
4 basal ganglia calcification, idiopathic, 5 11.2
5 basal ganglia calcification, idiopathic, 6 11.2
6 basal ganglia calcification, idiopathic, 7, autosomal recessive 11.2
7 basal ganglia calcification 10.5
8 episodic kinesigenic dyskinesia 1 10.3
9 hypoparathyroidism 10.3
10 speech disorder 10.3
11 movement disease 10.3
12 primary familial brain calcification 10.3
13 aicardi-goutieres syndrome 1 10.3
14 autoimmune disease 10.2
15 frontotemporal dementia 10.2
16 psoriasis 14, pustular 10.2
17 chorea, childhood-onset, with psychomotor retardation 10.2
18 hyperphosphatemia 10.2
19 choreatic disease 10.2
20 calcinosis 10.2
21 astrocytoma 10.2
22 pseudohypoparathyroidism 10.2
23 pustulosis of palm and sole 10.2
24 monoclonal gammopathy of uncertain significance 10.2
25 psoriasis 10.2
26 lingual-facial-buccal dyskinesia 10.2
27 hereditary dystonia 10.2
28 athetosis 10.2
29 pustular psoriasis 10.2
30 syncope 10.2
31 major affective disorder 1 10.2
32 major affective disorder 8 10.2
33 major affective disorder 9 10.2
34 dementia 10.2
35 bipolar disorder 10.2
36 migraine with or without aura 1 10.1
37 dystonia 10.1
38 ataxia and polyneuropathy, adult-onset 10.0
39 tremor 10.0
40 aceruloplasminemia 9.8
41 apraxia 9.8
42 focal epilepsy 9.8
43 cataract 9.8
44 vitreous detachment 9.8
45 thunderclap headache 9.8
46 dysphagia 9.8
47 headache 9.8
48 spinal cord injury 9.8
49 rare neurodegenerative disease 9.8

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:

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

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

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

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:

(show all 44)
# Title Authors PMID Year
1
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). 38 8 71
15596772 2004
2
Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q. 38 8 71
11810290 2002
3
Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). 38 8 71
10441584 1999
4
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. 8 71
23334463 2013
5
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. 8 71
22327515 2012
6
Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification. 8 71
20552677 2010
7
Parkinsonism associated with autosomal dominant bilateral striopallidodentate calcinosis. 8 71
11344012 2001
8
Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan. 8
24463626 2014
9
Density of the brain, decline of the mind: an atypical case of Fahr disease. 8
17502478 2007
10
Diffuse intracranial calcinosis: Fahr disease. 8
17172625 2006
11
What is and what is not 'Fahr's disease'. 8
15734663 2005
12
Primary Familial Brain Calcification 71
20301594 2004
13
Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. 8
11295778 2001
14
Familial idiopathic brain calcification with autosomal dominant inheritance. 8
9065541 1997
15
Non-progressive familial idiopathic intracranial calcification: a family report. 8
7561925 1995
16
Familial idiopathic strio-pallido-dentate calcifications with late onset extrapyramidal syndrome. 8
8474495 1993
17
Familial calcification of the basal ganglia: a case report and review of the literature. 8
1410084 1992
18
Bilateral striopallidodentate calcinosis: cerebrospinal fluid, imaging, and electrophysiological studies. 8
1586138 1992
19
Neurological disorders in 166 patients with basal ganglia calcification: a statistical evaluation. 8
1541967 1992
20
Familial idiopathic striopallidodentate calcifications. 8
2927646 1989
21
Adult onset idiopathic familial brain calcifications. 8
6508450 1984
22
Progressive idiopathic strio-pallido-dentate calcinosis (Fahr's disease) with autosomal recessive inheritance. Report of three siblings. 8
6840142 1983
23
The significance of the incidental finding of basal ganglia calcification on computed tomography. 8
7334414 1981
24
Idiopathic familial basal ganglia calcification associated with juvenile hypertension. 8
7373329 1980
25
Familial basal ganglia calcification and schizophreniform psychosis. 8
519120 1979
26
Calcification of the basal ganglia: computerized tomography and clinical correlation. 8
571978 1979
27
Cerebral calcinosis with late onset encephalopathy. Unusual type of pseudo-pseudohypoparathyreoidism. 8
200054 1977
28
Familial idiopathic cerebral calcifications. 8
886353 1977
29
Familial calcification of the basal ganglions: a metabolic and genetic study. 8
4326703 1971
30
Idiopathic familial cerebrovascular ferrocalcinosis (Fahr's disease) and review of differential diagnosis of intracranial calcification in children. 8
4179335 1969
31
FAMILIAL BILATERAL VASCULAR CALCIFICATION IN THE CENTRAL NERVOUS SYSTEM. 8
14207403 1964
32
Familial hypocalcemia, latent tetany and calcification of the basal ganglia. Report of a kindred. 8
13728765 1961
33
Familial calcification of the cerebral basal ganglia and its relation to hypoparathyroidism. 8
14437830 1959
34
[Familial symmetrical brain calcification]. 8
13624656 1958
35
Familial calcification of the basal ganglia with response to parathormone. 8
13463615 1957
36
Calcification of the corpus stiatum and dentate nuclei occurring in a family. 8
14898295 1951
37
Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1). 38
29627011 2018
38
Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2. 38
27671522 2016
39
Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population. 38
23054591 2013
40
Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease). 38
20838928 2011
41
Linkage studies in familial idiopathic basal ganglia calcification: separating the wheat from the chaff. 38
18663732 2009
42
Analysis of Candidate Genes at the IBGC1 Locus Associated with Idiopathic Basal Ganglia Calcification ("Fahr" Disease'). 38
29349717 2007
43
Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease"). 38
17917073 2007
44
Autosomal dominant dystonia-plus with cerebral calcifications. 38
16924015 2006

Variations for Basal Ganglia Calcification, Idiopathic, 1

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

6 (show top 50) (show all 78)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC20A2 NM_006749.5(SLC20A2): c.1723G> T (p.Glu575Ter) single nucleotide variant Pathogenic rs387906653 8:42286347-42286347 8:42428829-42428829
2 SLC20A2 NM_006749.5(SLC20A2): c.136C> T (p.Gln46Ter) single nucleotide variant Pathogenic rs751093906 8:42329773-42329773 8:42472255-42472255
3 SLC20A2 SLC20A2, GLY498ARG single nucleotide variant Pathogenic
4 SLC20A2 NM_006749.5(SLC20A2): c.1802C> G (p.Ser601Trp) single nucleotide variant Pathogenic rs387906652 8:42275478-42275478 8:42417960-42417960
5 SLC20A2 NM_006749.5(SLC20A2): c.1802C> T (p.Ser601Leu) single nucleotide variant Pathogenic rs387906652 8:42275478-42275478 8:42417960-42417960
6 SLC20A2 NM_006749.5(SLC20A2): c.1784C> T (p.Thr595Met) single nucleotide variant Pathogenic rs387906654 8:42286286-42286286 8:42428768-42428768
7 SLC20A2 NM_006749.5(SLC20A2): c.1828_1831del (p.Ser610fs) deletion Pathogenic rs398122396 8:42275449-42275452 8:42417931-42417934
8 SLC20A2 NM_006749.5(SLC20A2): c.583_584del (p.Val195fs) deletion Pathogenic rs398122397 8:42317443-42317444 8:42459925-42459926
9 SLC20A2 NM_006749.5(SLC20A2): c.509del (p.Ile169_Leu170insTer) deletion Pathogenic rs398122395 8:42320530-42320530 8:42463012-42463012
10 SLC20A2 NM_006749.5(SLC20A2): c.1375G> T (p.Glu459Ter) single nucleotide variant Pathogenic 8:42294655-42294655 8:42437137-42437137
11 SLC20A2 NM_006749.5(SLC20A2): c.935-2A> G single nucleotide variant Pathogenic 8:42295097-42295097 8:42437579-42437579
12 SLC20A2 NM_006749.5(SLC20A2): c.1520_1521del (p.Val507fs) deletion Likely pathogenic 8:42294509-42294510 8:42436992-42436993
13 SLC20A2 NM_006749.5(SLC20A2): c.1196A> C (p.His399Pro) single nucleotide variant Likely pathogenic 8:42294834-42294834 8:42437316-42437316
14 SLC20A2 NM_006749.5(SLC20A2): c.303del (p.Trp101fs) deletion Likely pathogenic 8:42323422-42323422 8:42465905-42465905
15 SLC20A2 NM_006749.5(SLC20A2): c.188G> A (p.Gly63Asp) single nucleotide variant Likely pathogenic 8:42329721-42329721 8:42472203-42472203
16 SLC20A2 NM_006749.5(SLC20A2): c.187G> A (p.Gly63Ser) single nucleotide variant Likely pathogenic 8:42329722-42329722 8:42472204-42472204
17 SLC20A2 NM_006749.5(SLC20A2): c.21del (p.Leu7fs) deletion Likely pathogenic 8:42329888-42329888 8:42472370-42472370
18 SLC20A2 NC_000008.10 deletion Likely pathogenic 8:42297172-42317413 8:42439654-42459895
19 SLC20A2 NC_000008.10: g.(?_42275320)_(42297172_42302163)del deletion Likely pathogenic 8:42275320-42302163 8:42417802-42444645
20 SLC20A2 NM_006749.5(SLC20A2): c.1795-1G> A single nucleotide variant Likely pathogenic 8:42275486-42275486 8:42417968-42417968
21 CHRNA6 ; CHRNB3 ; FNTA ; HOOK3 ; RNF170 ; SLC20A2 ; SMIM19 ; THAP1 deletion Likely pathogenic 8:42338721-42916885 :0-0
22 SLC20A2 NM_006749.5(SLC20A2): c.1723G> A (p.Glu575Lys) single nucleotide variant Likely pathogenic rs387906653 8:42286347-42286347 8:42428829-42428829
23 SLC20A2 NM_006749.5(SLC20A2): c.846C> T (p.Asp282=) single nucleotide variant Conflicting interpretations of pathogenicity rs116122164 8:42297056-42297056 8:42439538-42439538
24 SLC20A2 NM_006749.5(SLC20A2): c.*538C> T single nucleotide variant Uncertain significance rs746914329 8:42274783-42274783 8:42417265-42417265
25 SLC20A2 NM_006749.5(SLC20A2): c.*289A> C single nucleotide variant Uncertain significance rs892436898 8:42275032-42275032 8:42417514-42417514
26 SLC20A2 NM_006749.5(SLC20A2): c.*171G> A single nucleotide variant Uncertain significance rs908206225 8:42275150-42275150 8:42417632-42417632
27 SLC20A2 NM_006749.5(SLC20A2): c.834G> A (p.Lys278=) single nucleotide variant Uncertain significance rs778920007 8:42297068-42297068 8:42439550-42439550
28 SLC20A2 NM_006749.5(SLC20A2): c.1377G> T (p.Glu459Asp) single nucleotide variant Uncertain significance rs144428935 8:42294653-42294653 8:42437135-42437135
29 SLC20A2 NM_006749.5(SLC20A2): c.-288G> C single nucleotide variant Uncertain significance rs1554579510 8:42396987-42396987 8:42541844-42541844
30 SLC20A2 NM_006749.5(SLC20A2): c.*124G> T single nucleotide variant Uncertain significance rs948433091 8:42275197-42275197 8:42417679-42417679
31 SLC20A2 NM_006749.5(SLC20A2): c.1803G> A (p.Ser601=) single nucleotide variant Uncertain significance rs761069656 8:42275477-42275477 8:42417959-42417959
32 SLC20A2 NM_138436.4(SMIM19): c.-5+308C> A single nucleotide variant Uncertain significance rs1206770675 8:42397156-42397156 8:42542013-42542013
33 SLC20A2 NM_006749.5(SLC20A2): c.186A> G (p.Leu62=) single nucleotide variant Uncertain significance rs201586836 8:42329723-42329723 8:42472205-42472205
34 SLC20A2 NM_006749.4(SLC20A2): c.-265+8dupG duplication Uncertain significance rs1554579481 8:42396956-42396956 8:42541813-42541813
35 SLC20A2 NM_006749.4(SLC20A2): c.-265+5dupG duplication Uncertain significance rs1554579488 8:42396959-42396959 8:42541816-42541816
36 SLC20A2 NM_006749.5(SLC20A2): c.-389G> A single nucleotide variant Uncertain significance rs574357175 8:42397088-42397088 8:42541945-42541945
37 SLC20A2 NM_006749.5(SLC20A2): c.*1069G> C single nucleotide variant Uncertain significance rs1010204441 8:42274252-42274252 8:42416734-42416734
38 SLC20A2 NM_138436.4(SMIM19): c.-5+287G> A single nucleotide variant Uncertain significance rs969584653 8:42397135-42397135 8:42541992-42541992
39 SLC20A2 NM_138436.4(SMIM19): c.-5+419G> T single nucleotide variant Uncertain significance rs1003849503 8:42397267-42397267 8:42542124-42542124
40 SLC20A2 NM_006749.5(SLC20A2): c.1576G> T (p.Val526Leu) single nucleotide variant Uncertain significance rs1420760497 8:42287715-42287715 8:42430197-42430197
41 SLC20A2 NM_006749.5(SLC20A2): c.*660T> C single nucleotide variant Uncertain significance rs1211116059 8:42274661-42274661 8:42417143-42417143
42 SLC20A2 NM_006749.5(SLC20A2): c.1090G> A (p.Asp364Asn) single nucleotide variant Uncertain significance rs748895007 8:42294940-42294940 8:42437422-42437422
43 SLC20A2 NM_006749.5(SLC20A2): c.883C> T (p.Leu295=) single nucleotide variant Uncertain significance rs1212922301 8:42297019-42297019 8:42439501-42439501
44 SLC20A2 NM_006749.5(SLC20A2): c.*380C> T single nucleotide variant Likely benign rs72643203 8:42274941-42274941 8:42417423-42417423
45 SLC20A2 NM_006749.5(SLC20A2): c.*70C> T single nucleotide variant Likely benign rs371247567 8:42275251-42275251 8:42417733-42417733
46 SLC20A2 NM_006749.5(SLC20A2): c.138G> A (p.Gln46=) single nucleotide variant Likely benign rs116068659 8:42329771-42329771 8:42472253-42472253
47 SLC20A2 NM_006749.5(SLC20A2): c.933C> T (p.Tyr311=) single nucleotide variant Likely benign rs115902470 8:42296969-42296969 8:42439451-42439451
48 SLC20A2 NM_006749.5(SLC20A2): c.1134G> T (p.Arg378=) single nucleotide variant Likely benign rs114636687 8:42294896-42294896 8:42437378-42437378
49 SLC20A2 NM_006749.5(SLC20A2): c.*263A> C single nucleotide variant Likely benign rs145543019 8:42275058-42275058 8:42417540-42417540
50 SLC20A2 NM_006749.5(SLC20A2): c.*113A> T single nucleotide variant Likely benign rs115989387 8:42275208-42275208 8:42417690-42417690

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

74 (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

GO Terms for Basal Ganglia Calcification, Idiopathic, 1

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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