Basal Ganglia Calcification, Idiopathic, 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

IBGC4 MCID: BSL032 MIFTS: 24	Basal Ganglia Calcification, Idiopathic, 4 (IBGC4) Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 4

MalaCards integrated aliases for Basal Ganglia Calcification, Idiopathic, 4:

Name: Basal Ganglia Calcification, Idiopathic, 4 ⁵⁶ ⁷³ ²⁹ ¹³ ⁶ ⁷¹

Ibgc4 ⁵⁶ ⁷³

Calcification, Basal Ganglia, Idiopathic, Type 4 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
most patients are asymptomatic
one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013)
variable age of onset of symptoms

HPO:

³¹

basal ganglia calcification, idiopathic, 4:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 615007

OMIM Phenotypic Series ⁵⁶ PS213600

MeSH ⁴³ D001480 D002114

MedGen ⁴¹ C3554321 CN164260

SNOMED-CT via HPO ⁶⁸ 21061000119107 263681008 32798002 more

UMLS ⁷¹ C3554321

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Summaries for Basal Ganglia Calcification, Idiopathic, 4

UniProtKB/Swiss-Prot : ⁷³ Basal ganglia calcification, idiopathic, 4: 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.

MalaCards based summary : Basal Ganglia Calcification, Idiopathic, 4, is also known as ibgc4. An important gene associated with Basal Ganglia Calcification, Idiopathic, 4 is PDGFRB (Platelet Derived Growth Factor Receptor Beta). Affiliated tissues include brain and smooth muscle, and related phenotypes are nystagmus and migraine

OMIM : ⁵⁶ Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by Nicolas et al., 2013). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600). (615007)

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Related Diseases for Basal Ganglia Calcification, Idiopathic, 4

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
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

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Symptoms & Phenotypes for Basal Ganglia Calcification, Idiopathic, 4

Human phenotypes related to Basal Ganglia Calcification, Idiopathic, 4:

³¹ (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³¹	occasional (7.5%)	HP:0000639
2	migraine ³¹	occasional (7.5%)	HP:0002076
3	dementia ³¹	occasional (7.5%)	HP:0000726
4	parkinsonism ³¹	occasional (7.5%)	HP:0001300
5	depressivity ³¹		HP:0000716
6	basal ganglia calcification ³¹		HP:0002135

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
basal ganglia calcifications
dementia (in some patients)
parkinsonism (in some)
impaired executive function (in some patients)
migraine (in some patients)
more

Neurologic Behavioral Psychiatric Manifestations:
depression (in some patients)

Head And Neck Eyes:
nystagmus (rare)

Clinical features from OMIM:

615007

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Drugs & Therapeutics for Basal Ganglia Calcification, Idiopathic, 4

Search Clinical Trials , NIH Clinical Center for Basal Ganglia Calcification, Idiopathic, 4

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Genetic Tests for Basal Ganglia Calcification, Idiopathic, 4

Genetic tests related to Basal Ganglia Calcification, Idiopathic, 4:

#	Genetic test	Affiliating Genes
1	Basal Ganglia Calcification, Idiopathic, 4 ²⁹	PDGFRB

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Anatomical Context for Basal Ganglia Calcification, Idiopathic, 4

MalaCards organs/tissues related to Basal Ganglia Calcification, Idiopathic, 4:

⁴⁰

Brain, Smooth Muscle

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Publications for Basal Ganglia Calcification, Idiopathic, 4

Articles related to Basal Ganglia Calcification, Idiopathic, 4:

#	Title	Authors	PMID	Year
1	Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. ⁵⁶ ⁶	Nicolas G...Campion D	23255827	2013
2	Vascular smooth muscle cell calcification and SLC20 inorganic phosphate transporters: effects of PDGF, TNF-alpha, and Pi. ⁵⁶	Villa-Bellosta R...Sorribas V	19506901	2009
3	Primary Familial Brain Calcification ⁶	Ramos EM...Coppola G	20301594	2004

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Genes for Basal Ganglia Calcification, Idiopathic, 4

Genes related to Basal Ganglia Calcification, Idiopathic, 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	1320.31	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23255827 20301594

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Variations for Basal Ganglia Calcification, Idiopathic, 4

ClinVar genetic disease variations for Basal Ganglia Calcification, Idiopathic, 4:

⁶ (show top 50) (show all 63) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PDGFRB	NM_002609.4(PDGFRB):c.1973T>C (p.Leu658Pro)	SNV	Pathogenic	39588	rs397509381	5:149503863-149503863	5:150124300-150124300
2	PDGFRB	NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp)	SNV	Pathogenic	39589	rs397509382	5:149497359-149497359	5:150117796-150117796
3	PDGFRB	NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys)	SNV	Likely pathogenic	135650	rs138008832	5:149502705-149502705	5:150123142-150123142
4	PDGFRB	NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys)	SNV	Uncertain significance	863633		5:149505049-149505049	5:150125486-150125486
5	PDGFRB	NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys)	SNV	Uncertain significance	863739		5:149515439-149515439	5:150135876-150135876
6	PDGFRB	NC_000005.9:g.(?_149503793)_(149516630_?)dup	duplication	Uncertain significance	584307		5:149503793-149516630	5:150124230-150137067
7	PDGFRB	NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg)	SNV	Uncertain significance	581169	rs374802057	5:149511568-149511568	5:150132005-150132005
8	PDGFRB	NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys)	SNV	Uncertain significance	582961	rs1562011077	5:149514460-149514460	5:150134897-150134897
9	PDGFRB	NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn)	SNV	Uncertain significance	576602	rs1561984983	5:149497379-149497379	5:150117816-150117816
10	PDGFRB	NM_002609.4(PDGFRB):c.2464-3C>T	SNV	Uncertain significance	572749	rs571983343	5:149500576-149500576	5:150121013-150121013
11	PDGFRB	NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe)	SNV	Uncertain significance	581888	rs1312583190	5:149510123-149510123	5:150130560-150130560
12	PDGFRB	NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg)	SNV	Uncertain significance	656806		5:149505038-149505038	5:150125475-150125475
13	PDGFRB	NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys)	SNV	Uncertain significance	663275		5:149509449-149509449	5:150129886-150129886
14	PDGFRB	NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly)	SNV	Uncertain significance	639829		5:149512503-149512503	5:150132940-150132940
15	PDGFRB	NM_002609.4(PDGFRB):c.2023+5C>T	SNV	Uncertain significance	540599	rs369842668	5:149503808-149503808	5:150124245-150124245
16	PDGFRB	NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala)	SNV	Likely benign	540600	rs540480924	5:149509427-149509427	5:150129864-150129864
17	PDGFRB	NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp)	SNV	Likely benign	707454		5:149509395-149509395	5:150129832-150129832
18	PDGFRB	NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=)	SNV	Likely benign	772273		5:149509345-149509345	5:150129782-150129782
19	PDGFRB	NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=)	SNV	Likely benign	767315		5:149495443-149495443	5:150115880-150115880
20	PDGFRB	NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr)	SNV	Likely benign	707690		5:149514363-149514363	5:150134800-150134800
21	PDGFRB	NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile)	SNV	Likely benign	772270		5:149515219-149515219	5:150135656-150135656
22	PDGFRB	NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His)	SNV	Likely benign	783158		5:149497346-149497346	5:150117783-150117783
23	PDGFRB	NM_002609.4(PDGFRB):c.2919G>A (p.Val973=)	SNV	Likely benign	785900		5:149497399-149497399	5:150117836-150117836
24	PDGFRB	NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=)	SNV	Likely benign	712778		5:149497285-149497285	5:150117722-150117722
25	PDGFRB	NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=)	SNV	Likely benign	712779		5:149497321-149497321	5:150117758-150117758
26	PDGFRB	NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=)	SNV	Likely benign	712760		5:149499618-149499618	5:150120055-150120055
27	PDGFRB	NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=)	SNV	Likely benign	711863		5:149504384-149504384	5:150124821-150124821
28	PDGFRB	NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln)	SNV	Likely benign	733483		5:149497358-149497358	5:150117795-150117795
29	PDGFRB	NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=)	SNV	Likely benign	736581		5:149501549-149501549	5:150121986-150121986
30	PDGFRB	NM_002609.4(PDGFRB):c.726G>C (p.Val242=)	SNV	Likely benign	735955		5:149513477-149513477	5:150133914-150133914
31	PDGFRB	NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)	SNV	Benign/Likely benign	285888	rs41287112	5:149512494-149512494	5:150132931-150132931
32	PDGFRB	NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)	SNV	Benign/Likely benign	286389	rs41287108	5:149500514-149500514	5:150120951-150120951
33	PDGFRB	NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)	SNV	Benign/Likely benign	377063	rs2229558	5:149512407-149512407	5:150132844-150132844
34	PDGFRB	NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)	SNV	Benign/Likely benign	707132		5:149495360-149495360	5:150115797-150115797
35	PDGFRB	NM_002609.4(PDGFRB):c.2502C>T (p.Ile834=)	SNV	Benign	707246		5:149500535-149500535	5:150120972-150120972
36	PDGFRB	NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=)	SNV	Benign	473404	rs56072663	5:149504348-149504348	5:150124785-150124785
37	PDGFRB	NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln)	SNV	Benign	473403	rs148974733	5:149509394-149509394	5:150129831-150129831
38	PDGFRB	NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val)	SNV	Benign	473406	rs149417689	5:149497199-149497199	5:150117636-150117636
39	PDGFRB	NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)	SNV	Benign	473400	rs2228439	5:149511636-149511636	5:150132073-150132073
40	PDGFRB	NM_002609.4(PDGFRB):c.365-4G>T	SNV	Benign	473407	rs139448702	5:149514583-149514583	5:150135020-150135020
41	PDGFRB	NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=)	SNV	Benign	473405	rs148709288	5:149499657-149499657	5:150120094-150120094
42	PDGFRB	NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)	SNV	Benign	473402	rs41287110	5:149509446-149509446	5:150129883-150129883
43	PDGFRB	NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met)	SNV	Benign	473401	rs74943037	5:149509508-149509508	5:150129945-150129945
44	PDGFRB	NM_002609.4(PDGFRB):c.102C>T (p.Val34=)	SNV	Benign	473399	rs17708515	5:149515380-149515380	5:150135817-150135817
45	PDGFRB	NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=)	SNV	Benign	772148		5:149509360-149509360	5:150129797-150129797
46	PDGFRB	NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=)	SNV	Benign	774381		5:149509462-149509462	5:150129899-150129899
47	PDGFRB	NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=)	SNV	Benign	767332		5:149512321-149512321	5:150132758-150132758
48	PDGFRB	NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys)	SNV	Benign	772279		5:149512332-149512332	5:150132769-150132769
49	PDGFRB	NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=)	SNV	Benign	772768		5:149512495-149512495	5:150132932-150132932
50	PDGFRB	NM_002609.4(PDGFRB):c.714C>T (p.Ile238=)	SNV	Benign	770095		5:149513489-149513489	5:150133926-150133926

UniProtKB/Swiss-Prot genetic disease variations for Basal Ganglia Calcification, Idiopathic, 4:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	PDGFRB	p.Leu658Pro	VAR_069320	rs397509381
2	PDGFRB	p.Arg987Trp	VAR_069321	rs397509382
3	PDGFRB	p.Glu1071Val	VAR_075395

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Expression for Basal Ganglia Calcification, Idiopathic, 4

Search GEO for disease gene expression data for Basal Ganglia Calcification, Idiopathic, 4.

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Pathways for Basal Ganglia Calcification, Idiopathic, 4

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GO Terms for Basal Ganglia Calcification, Idiopathic, 4

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Sources for Basal Ganglia Calcification, Idiopathic, 4

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²³ GeneHancer via GeneCards

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²⁷ GEO DataSets

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³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

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⁴⁰ MalaCards

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Basal Ganglia Calcification, Idiopathic, 4 (IBGC4)

Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 4

MalaCards integrated aliases for Basal Ganglia Calcification, Idiopathic, 4:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Basal Ganglia Calcification, Idiopathic, 4

Related Diseases for Basal Ganglia Calcification, Idiopathic, 4

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

Symptoms & Phenotypes for Basal Ganglia Calcification, Idiopathic, 4

Human phenotypes related to Basal Ganglia Calcification, Idiopathic, 4:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Basal Ganglia Calcification, Idiopathic, 4

Genetic Tests for Basal Ganglia Calcification, Idiopathic, 4

Genetic tests related to Basal Ganglia Calcification, Idiopathic, 4:

Anatomical Context for Basal Ganglia Calcification, Idiopathic, 4

MalaCards organs/tissues related to Basal Ganglia Calcification, Idiopathic, 4:

Publications for Basal Ganglia Calcification, Idiopathic, 4

Articles related to Basal Ganglia Calcification, Idiopathic, 4:

Genes for Basal Ganglia Calcification, Idiopathic, 4

Genes related to Basal Ganglia Calcification, Idiopathic, 4 (1 elite genes):

Variations for Basal Ganglia Calcification, Idiopathic, 4

ClinVar genetic disease variations for Basal Ganglia Calcification, Idiopathic, 4:

UniProtKB/Swiss-Prot genetic disease variations for Basal Ganglia Calcification, Idiopathic, 4:

Expression for Basal Ganglia Calcification, Idiopathic, 4

Pathways for Basal Ganglia Calcification, Idiopathic, 4

GO Terms for Basal Ganglia Calcification, Idiopathic, 4

Sources for Basal Ganglia Calcification, Idiopathic, 4