Entry Search - 158378 173410 190040 213600 605237 615007 615483 616413

Search: '158378 173410 190040 213600 605237 615007 615483 616413 (Search in: MIM number)'

Results: 8 entries.

# 213600. BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1
Cytogenetic location: 8p11.21
Matching terms: 213600
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
8p11.21	Basal ganglia calcification, idiopathic, 1	213600	AD	3	SLC20A2	158378

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Basal ganglia calcification, idiopathic - PS213600 - 8 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q25.3	Basal ganglia calcification, idiopathic, 6	AD	3	616413	XPR1	605237
2p25.2	Basal ganglia calcification, idiopathic, 10, autosomal recessive	AR	3	621018	CMPK2	611787
5q32	Basal ganglia calcification, idiopathic, 4	AD	3	615007	PDGFRB	173410
8p11.21	Basal ganglia calcification, idiopathic, 1	AD	3	213600	SLC20A2	158378
9p13.3	Basal ganglia calcification, idiopathic, 7, autosomal recessive	AR	3	618317	MYORG	618255
16p13.3	Basal ganglia calcification, idiopathic, 9, autosomal recessive	AR	3	620786	NAA60	614246
21q21.3	Basal ganglia calcification, idiopathic, 8, autosomal recessive	AR	3	618824	JAM2	606870
22q13.1	Basal ganglia calcification, idiopathic, 5	AD	3	615483	PDGFB	190040

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
ORPHA: 1980 DO: 0060230

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* 605237. XENOTROPIC AND POLYTROPIC RETROVIRUS RECEPTOR; XPR1
Cytogenetic location: 1q25.3, Genomic coordinates (GRCh38): 1:180,632,022-180,890,279
Matching terms: 605237
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q25.3	Basal ganglia calcification, idiopathic, 6	616413	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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# 616413. BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6
Cytogenetic location: 1q25.3
Matching terms: 616413
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1q25.3	Basal ganglia calcification, idiopathic, 6	616413	AD	3	XPR1	605237

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Basal ganglia calcification, idiopathic - PS213600 - 8 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q25.3	Basal ganglia calcification, idiopathic, 6	AD	3	616413	XPR1	605237
2p25.2	Basal ganglia calcification, idiopathic, 10, autosomal recessive	AR	3	621018	CMPK2	611787
5q32	Basal ganglia calcification, idiopathic, 4	AD	3	615007	PDGFRB	173410
8p11.21	Basal ganglia calcification, idiopathic, 1	AD	3	213600	SLC20A2	158378
9p13.3	Basal ganglia calcification, idiopathic, 7, autosomal recessive	AR	3	618317	MYORG	618255
16p13.3	Basal ganglia calcification, idiopathic, 9, autosomal recessive	AR	3	620786	NAA60	614246
21q21.3	Basal ganglia calcification, idiopathic, 8, autosomal recessive	AR	3	618824	JAM2	606870
22q13.1	Basal ganglia calcification, idiopathic, 5	AD	3	615483	PDGFB	190040

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet

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ICD+
ORPHA: 1980

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# 615007. BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4
Cytogenetic location: 5q32
Matching terms: 615007
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
5q32	Basal ganglia calcification, idiopathic, 4	615007	AD	3	PDGFRB	173410

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Basal ganglia calcification, idiopathic - PS213600 - 8 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q25.3	Basal ganglia calcification, idiopathic, 6	AD	3	616413	XPR1	605237
2p25.2	Basal ganglia calcification, idiopathic, 10, autosomal recessive	AR	3	621018	CMPK2	611787
5q32	Basal ganglia calcification, idiopathic, 4	AD	3	615007	PDGFRB	173410
8p11.21	Basal ganglia calcification, idiopathic, 1	AD	3	213600	SLC20A2	158378
9p13.3	Basal ganglia calcification, idiopathic, 7, autosomal recessive	AR	3	618317	MYORG	618255
16p13.3	Basal ganglia calcification, idiopathic, 9, autosomal recessive	AR	3	620786	NAA60	614246
21q21.3	Basal ganglia calcification, idiopathic, 8, autosomal recessive	AR	3	618824	JAM2	606870
22q13.1	Basal ganglia calcification, idiopathic, 5	AD	3	615483	PDGFB	190040

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 1980 DO: 0060230

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# 615483. BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5
Cytogenetic location: 22q13.1
Matching terms: 615483
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
22q13.1	Basal ganglia calcification, idiopathic, 5	615483	AD	3	PDGFB	190040

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Basal ganglia calcification, idiopathic - PS213600 - 8 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q25.3	Basal ganglia calcification, idiopathic, 6	AD	3	616413	XPR1	605237
2p25.2	Basal ganglia calcification, idiopathic, 10, autosomal recessive	AR	3	621018	CMPK2	611787
5q32	Basal ganglia calcification, idiopathic, 4	AD	3	615007	PDGFRB	173410
8p11.21	Basal ganglia calcification, idiopathic, 1	AD	3	213600	SLC20A2	158378
9p13.3	Basal ganglia calcification, idiopathic, 7, autosomal recessive	AR	3	618317	MYORG	618255
16p13.3	Basal ganglia calcification, idiopathic, 9, autosomal recessive	AR	3	620786	NAA60	614246
21q21.3	Basal ganglia calcification, idiopathic, 8, autosomal recessive	AR	3	618824	JAM2	606870
22q13.1	Basal ganglia calcification, idiopathic, 5	AD	3	615483	PDGFB	190040

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 1980 DO: 0060230

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* 158378. SOLUTE CARRIER FAMILY 20 (PHOSPHATE TRANSPORTER), MEMBER 2; SLC20A2
Cytogenetic location: 8p11.21, Genomic coordinates (GRCh38): 8:42,416,475-42,541,954
Matching terms: 158378
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
8p11.21	Basal ganglia calcification, idiopathic, 1	213600	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00007141 WBGene00012285 WBGene00015054 WBGene00015055 WBGene00016739 WBGene00017312 ZFin	Cellular Pathways Reactome

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* 173410. PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB
PDGFRB/ETV6 FUSION GENE, INCLUDED
Cytogenetic location: 5q32, Genomic coordinates (GRCh38): 5:150,113,839-150,155,845
Matching terms: 173410
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5q32	?Ocular pterygium-digital keloid dysplasia syndrome	621091	AD	3
	Basal ganglia calcification, idiopathic, 4	615007	AD	3
	Kosaki overgrowth syndrome	616592	AD	3
	Myofibromatosis, infantile, 1	228550	AD	3
	Premature aging syndrome, Penttinen type	601812	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00002211 WBGene00011168 ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1172898008, 776417008

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* 190040. PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB
PDGFB/COL1A1 FUSION GENE, INCLUDED
Cytogenetic location: 22q13.1, Genomic coordinates (GRCh38): 22:39,223,359-39,244,982
Matching terms: 190040
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
22q13.1	Basal ganglia calcification, idiopathic, 5	615483	AD	3
22q13.1	Meningioma, SIS-related	607174	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
ICD10CM: D32.9

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Search: 158378 173410 190040 213600 605237 615007 615483 616413 (Search in: MIM number)

Results: 8 entries.

# 213600. BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1
Cytogenetic location: 8p11.21
Matching terms: 213600

* 605237. XENOTROPIC AND POLYTROPIC RETROVIRUS RECEPTOR; XPR1
Cytogenetic location: 1q25.3, Genomic coordinates (GRCh38): 1:180,632,022-180,890,279
Matching terms: 605237

# 616413. BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6
Cytogenetic location: 1q25.3
Matching terms: 616413

# 615007. BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4
Cytogenetic location: 5q32
Matching terms: 615007

# 615483. BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5
Cytogenetic location: 22q13.1
Matching terms: 615483

* 158378. SOLUTE CARRIER FAMILY 20 (PHOSPHATE TRANSPORTER), MEMBER 2; SLC20A2
Cytogenetic location: 8p11.21, Genomic coordinates (GRCh38): 8:42,416,475-42,541,954
Matching terms: 158378

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