Entry Search - 173335 208000 603234 614473

Search: '173335 208000 603234 614473 (Search in: MIM number)'

Results: 4 entries.

* 603234. ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6
Cytogenetic location: 16p13.11, Genomic coordinates (GRCh38): 16:16,149,565-16,223,494
Matching terms: 603234
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
16p13.11	Arterial calcification, generalized, of infancy, 2	614473	AR	3
	Pseudoxanthoma elasticum	264800	AR	3
	Pseudoxanthoma elasticum, forme fruste	177850	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 Locus Specific DBs LOVD at NCBI Mutations of the Multidrug… NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 252246005

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# 614473. ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2
Cytogenetic location: 16p13.11
Matching terms: 614473
► 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
16p13.11	Arterial calcification, generalized, of infancy, 2	614473	AR	3	ABCC6	603234

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Generalized arterial calcification of infancy - PS208000 - 2 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
6q23.2	Arterial calcification, generalized, of infancy, 1	AR	3	208000	ENPP1	173335
16p13.11	Arterial calcification, generalized, of infancy, 2	AR	3	614473	ABCC6	603234

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

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ICD+
ORPHA: 51608 DO: 0050644

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# 208000. ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1
CORONARY SCLEROSIS, MEDIAL, OF INFANCY, INCLUDED
Cytogenetic location: 6q23.2
Matching terms: 208000
► 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
6q23.2	Arterial calcification, generalized, of infancy, 1	208000	AR	3	ENPP1	173335

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Generalized arterial calcification of infancy - PS208000 - 2 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
6q23.2	Arterial calcification, generalized, of infancy, 1	AR	3	208000	ENPP1	173335
16p13.11	Arterial calcification, generalized, of infancy, 2	AR	3	614473	ABCC6	603234

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

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ICD+
ORPHA: 51608 DO: 0050644

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* 173335. ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1
Cytogenetic location: 6q23.2, Genomic coordinates (GRCh38): 6:131,808,020-131,895,155
Matching terms: 173335
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
6q23.2	{Diabetes mellitus, non-insulin-dependent, susceptibility to}	125853	AD	3
	{Obesity, susceptibility to}	601665	AD, AR, Mu	3
	Arterial calcification, generalized, of infancy, 1	208000	AR	3
	Cole disease	615522	AD	3
	Hypophosphatemic rickets, autosomal recessive, 2	613312	AR	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 ClinGen Dosage ClinGen Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00007753 WBGene00007755 ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 711154007

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Search: 173335 208000 603234 614473 (Search in: MIM number)

Results: 4 entries.

* 603234. ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6
Cytogenetic location: 16p13.11, Genomic coordinates (GRCh38): 16:16,149,565-16,223,494
Matching terms: 603234

# 614473. ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2
Cytogenetic location: 16p13.11
Matching terms: 614473

# 208000. ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1
CORONARY SCLEROSIS, MEDIAL, OF INFANCY, INCLUDED
Cytogenetic location: 6q23.2
Matching terms: 208000

* 173335. ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1
Cytogenetic location: 6q23.2, Genomic coordinates (GRCh38): 6:131,808,020-131,895,155
Matching terms: 173335

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