Entry Search - 604521 605197 608285 617660 617661 618845

Search: '604521 605197 608285 617660 617661 618845 (Search in: MIM number)'

Results: 6 entries.

# 617660. VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1
Cytogenetic location: 2p21
Matching terms: 617660
► 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
2p21	Vertebral, cardiac, renal, and limb defects syndrome 1	617660	AR	3	HAAO	604521

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Vertebral, cardiac, renal, and limb defects syndrome - PS617660 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2p21	Vertebral, cardiac, renal, and limb defects syndrome 1	AR	3	617660	HAAO	604521
2q22.2	Vertebral, cardiac, renal, and limb defects syndrome 2	AR	3	617661	KYNU	605197
11q13.4	Vertebral, cardiac, renal, and limb defects syndrome 3	AR	3	618845	NADSYN1	608285

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

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ICD+
ORPHA: 521438

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* 605197. KYNURENINASE; KYNU
Cytogenetic location: 2q22.2, Genomic coordinates (GRCh38): 2:142,877,664-143,055,833
Matching terms: 605197
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q22.2	?Hydroxykynureninuria	236800	AR	3
2q22.2	Vertebral, cardiac, renal, and limb defects syndrome 2	617661	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 Validity GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 17820009, 33116002, 72945002

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* 608285. NAD SYNTHETASE 1; NADSYN1
Cytogenetic location: 11q13.4, Genomic coordinates (GRCh38): 11:71,453,203-71,501,816
Matching terms: 608285
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11q13.4	Vertebral, cardiac, renal, and limb defects syndrome 3	618845	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 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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# 617661. VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2
Cytogenetic location: 2q22.2
Matching terms: 617661
► 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
2q22.2	Vertebral, cardiac, renal, and limb defects syndrome 2	617661	AR	3	KYNU	605197

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Vertebral, cardiac, renal, and limb defects syndrome - PS617660 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2p21	Vertebral, cardiac, renal, and limb defects syndrome 1	AR	3	617660	HAAO	604521
2q22.2	Vertebral, cardiac, renal, and limb defects syndrome 2	AR	3	617661	KYNU	605197
11q13.4	Vertebral, cardiac, renal, and limb defects syndrome 3	AR	3	618845	NADSYN1	608285

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

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ICD+
ORPHA: 521438

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* 604521. 3-HYDROXYANTHRANILATE 3,4-DIOXYGENASE; HAAO
Cytogenetic location: 2p21, Genomic coordinates (GRCh38): 2:42,767,089-42,792,583
Matching terms: 604521
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2p21	Vertebral, cardiac, renal, and limb defects syndrome 1	617660	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 Validity GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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# 618845. VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
Cytogenetic location: 11q13.4
Matching terms: 618845
► 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
11q13.4	Vertebral, cardiac, renal, and limb defects syndrome 3	618845	AR	3	NADSYN1	608285

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Vertebral, cardiac, renal, and limb defects syndrome - PS617660 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2p21	Vertebral, cardiac, renal, and limb defects syndrome 1	AR	3	617660	HAAO	604521
2q22.2	Vertebral, cardiac, renal, and limb defects syndrome 2	AR	3	617661	KYNU	605197
11q13.4	Vertebral, cardiac, renal, and limb defects syndrome 3	AR	3	618845	NADSYN1	608285

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

▲ Close

ICD+
ORPHA: 521438

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Search: 604521 605197 608285 617660 617661 618845 (Search in: MIM number)

Results: 6 entries.

# 617660. VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1
Cytogenetic location: 2p21
Matching terms: 617660

* 605197. KYNURENINASE; KYNU
Cytogenetic location: 2q22.2, Genomic coordinates (GRCh38): 2:142,877,664-143,055,833
Matching terms: 605197

* 608285. NAD SYNTHETASE 1; NADSYN1
Cytogenetic location: 11q13.4, Genomic coordinates (GRCh38): 11:71,453,203-71,501,816
Matching terms: 608285

# 617661. VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2
Cytogenetic location: 2q22.2
Matching terms: 617661

* 604521. 3-HYDROXYANTHRANILATE 3,4-DIOXYGENASE; HAAO
Cytogenetic location: 2p21, Genomic coordinates (GRCh38): 2:42,767,089-42,792,583
Matching terms: 604521

# 618845. VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
Cytogenetic location: 11q13.4
Matching terms: 618845

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