Entry Search - 172480 256520 601815 606879 610936 610992 614023 616038

Search: '172480 256520 601815 606879 610936 610992 614023 616038 (Search in: MIM number)'

Results: 8 entries.

# 601815. PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD
Cytogenetic location: 1p12
Matching terms: 601815
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1p12	Phosphoglycerate dehydrogenase deficiency	601815	AR	3	PHGDH	606879

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Links
Testing GTR EuroGentest Serine biosynthesis pathwa… 3-phosphoglycerate dehydro…	Clinical Resources Clinical Trials EuroGentest Serine biosynthesis pathwa… 3-phosphoglycerate dehydro… Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet Serine biosynthesis pathwa… 3-phosphoglycerate dehydro… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 583595, 79351 DO: 0050722

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* 610936. PHOSPHOSERINE AMINOTRANSFERASE 1; PSAT1
Cytogenetic location: 9q21.2, Genomic coordinates (GRCh38): 9:78,297,125-78,330,093
Matching terms: 610936
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
9q21.2	Neu-Laxova syndrome 2	616038	AR	3
9q21.2	Phosphoserine aminotransferase deficiency	610992	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 FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 718603002

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# 610992. PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY; PSATD
Cytogenetic location: 9q21.2
Matching terms: 610992
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
9q21.2	Phosphoserine aminotransferase deficiency	610992	AR	3	PSAT1	610936

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Links
Testing GTR EuroGentest Phosphoserine aminotransfe… Serine biosynthesis pathwa…	Clinical Resources Clinical Trials EuroGentest Phosphoserine aminotransfe… Serine biosynthesis pathwa… Gene Reviews Genetic Alliance GTR OrphaNet Phosphoserine aminotransfe… Serine biosynthesis pathwa…	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
SNOMEDCT: 718603002 ORPHA: 284417, 583595 DO: 0050723

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# 614023. PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD
Cytogenetic location: 7p11.2
Matching terms: 614023
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
7p11.2	Phosphoserine phosphatase deficiency	614023	AR	3	PSPH	172480

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Links
Testing GTR EuroGentest Serine biosynthesis pathwa… 3-phosphoserine phosphatas…	Clinical Resources Clinical Trials EuroGentest Serine biosynthesis pathwa… 3-phosphoserine phosphatas… Gene Reviews Genetic Alliance GTR OrphaNet Serine biosynthesis pathwa… 3-phosphoserine phosphatas…	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
SNOMEDCT: 124432005 ORPHA: 583595, 79350 DO: 0050724

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# 616038. NEU-LAXOVA SYNDROME 2; NLS2
Cytogenetic location: 9q21.2
Matching terms: 616038
► 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
9q21.2	Neu-Laxova syndrome 2	616038	AR	3	PSAT1	610936

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Neu-Laxova syndrome - PS256520 - 2 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p12	Neu-Laxova syndrome 1	AR	3	256520	PHGDH	606879
9q21.2	Neu-Laxova syndrome 2	AR	3	616038	PSAT1	610936

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Links
Testing GTR EuroGentest Neu-Laxova syndrome Neu-Laxova syndrome due to…	Clinical Resources Clinical Trials EuroGentest Neu-Laxova syndrome Neu-Laxova syndrome due to… Gene Reviews GTR OrphaNet Neu-Laxova syndrome Neu-Laxova syndrome due to…	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 2671, 583602 DO: 0080075

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* 172480. PHOSPHOSERINE PHOSPHATASE; PSPH
Cytogenetic location: 7p11.2, Genomic coordinates (GRCh38): 7:56,011,064-56,051,444
Matching terms: 172480
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
7p11.2	Phosphoserine phosphatase deficiency	614023	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 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+
SNOMEDCT: 124432005

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# 256520. NEU-LAXOVA SYNDROME 1; NLS1
Cytogenetic location: 1p12
Matching terms: 256520
► 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
1p12	Neu-Laxova syndrome 1	256520	AR	3	PHGDH	606879

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Neu-Laxova syndrome - PS256520 - 2 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p12	Neu-Laxova syndrome 1	AR	3	256520	PHGDH	606879
9q21.2	Neu-Laxova syndrome 2	AR	3	616038	PSAT1	610936

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Links
Testing GTR EuroGentest Neu-Laxova syndrome Neu-Laxova syndrome due to…	Clinical Resources Clinical Trials EuroGentest Neu-Laxova syndrome Neu-Laxova syndrome due to… Gene Reviews GTR OrphaNet Neu-Laxova syndrome Neu-Laxova syndrome due to… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
SNOMEDCT: 77817004 ORPHA: 2671, 583607 DO: 0080076

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* 606879. PHOSPHOGLYCERATE DEHYDROGENASE; PHGDH
Cytogenetic location: 1p12, Genomic coordinates (GRCh38): 1:119,711,934-119,744,215
Matching terms: 606879
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1p12	Neu-Laxova syndrome 1	256520	AR	3
1p12	Phosphoglycerate dehydrogenase deficiency	601815	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 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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Search: 172480 256520 601815 606879 610936 610992 614023 616038 (Search in: MIM number)

Results: 8 entries.

# 601815. PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD
Cytogenetic location: 1p12
Matching terms: 601815

* 610936. PHOSPHOSERINE AMINOTRANSFERASE 1; PSAT1
Cytogenetic location: 9q21.2, Genomic coordinates (GRCh38): 9:78,297,125-78,330,093
Matching terms: 610936

# 610992. PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY; PSATD
Cytogenetic location: 9q21.2
Matching terms: 610992

# 614023. PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD
Cytogenetic location: 7p11.2
Matching terms: 614023

# 616038. NEU-LAXOVA SYNDROME 2; NLS2
Cytogenetic location: 9q21.2
Matching terms: 616038

* 172480. PHOSPHOSERINE PHOSPHATASE; PSPH
Cytogenetic location: 7p11.2, Genomic coordinates (GRCh38): 7:56,011,064-56,051,444
Matching terms: 172480

# 256520. NEU-LAXOVA SYNDROME 1; NLS1
Cytogenetic location: 1p12
Matching terms: 256520

* 606879. PHOSPHOGLYCERATE DEHYDROGENASE; PHGDH
Cytogenetic location: 1p12, Genomic coordinates (GRCh38): 1:119,711,934-119,744,215
Matching terms: 606879

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Printed: March 5, 2025