PHGDH gene related symptoms and diseases
All the information presented here about the PHGDH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PHGDH gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hypogonadism | Very Common - Between 80% and 100% cases |
| Microcephaly | Very Common - Between 80% and 100% cases |
| Growth delay | Very Common - Between 80% and 100% cases |
| Cataract | Very Common - Between 80% and 100% cases |
| Large hands | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PHGDH gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Lissencephaly
- Pterygium
- Patent foramen ovale
- Rickets
- Ectropion
- Intellectual disability
- Radial deviation of finger
- Joint contracture of the hand
And 112 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PHGDH gene
Here you will find a list of rare diseases related to the PHGDH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM
Alternate names
3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM Is also known as phgdh deficiency
Description
3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form
Most common symptoms of 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Growth delay
More info about 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM
NEU-LAXOVA SYNDROME
Alternate names
NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome, 3-phosphoglycerate dehydrogenase deficiency, neonatal form, nls
Description
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.
Most common symptoms of NEU-LAXOVA SYNDROME
- Microcephaly
- Scoliosis
- Growth delay
- Hypertelorism
- Micrognathia
More info about NEU-LAXOVA SYNDROME
Search interest in PHGDH
Potential gene panels for PHGDH gene
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Female) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1
More info about this panel United States.
GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Male) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel United States.
Epilepsy/Seizure Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1
More info about this panel United States.
Infantile Epilepsy Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Infantile Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1 CDKL5
More info about this panel United States.
Epilepsy Panel - Comprehensive Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Epilepsy Panel - Comprehensive that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 SPTAN1 CDKL5
More info about this panel Argentina.
Phosphoglycerate dehydrogenase deficiency (sequence analysis of PHGDH gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PHGDH gene.
More info about this panel Portugal.
Phosphoglycerate Dehydrogenase Deficiency and Neu-Laxova Syndrome 1 via PHGDH Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PHGDH gene.
More info about this panel United States.
Neu-Laxova syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Neu-Laxova syndrome NGS panel that also includes the following genes: PSAT1 PHGDH
More info about this panel United States.
Neu-Laxova syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Neu-Laxova syndrome Comprehensive panel that also includes the following genes: PSAT1 PHGDH
More info about this panel United States.
Neu-Laxova syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Neu-Laxova syndrome Deletion / Duplication panel that also includes the following genes: PSAT1 PHGDH
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Epileptic Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panel Germany.
Epileptic Encephalopathy – Basic Diagnostics Panel
Germany.
By MGZ Medical Genetics Center Epileptic Encephalopathy – Basic Diagnostics that also includes the following genes: SCN1A SCN2A SLC2A1 CDKL5 STXBP1 SYNGAP1 PCDH19 ARX KCNT1 PNPO
More info about this panel Germany.
Epilepsy and Mitochondrial Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
Epilepsy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
PHGDH Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the PHGDH gene.
More info about this panel Germany.
Phosphoglycerate dehydrogenase deficiency (PHGDH) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the PHGDH gene.
More info about this panel Netherlands.
Serine synthesis defect panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Serine synthesis defect panel that also includes the following genes: PSAT1 PHGDH PSPH
More info about this panel Netherlands.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Phosphoglycerate dehydrogenase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PHGDH gene.
More info about this panel Germany.
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panel Germany.
Invitae Disorders of Serine Biosynthesis Panel Panel
United States.
By Invitae Invitae Disorders of Serine Biosynthesis Panel that also includes the following genes: PSAT1 PHGDH PSPH
More info about this panel United States.
Invitae Neurotransmitter Disorders Panel Panel
United States.
By Invitae Invitae Neurotransmitter Disorders Panel that also includes the following genes: SLC6A3 SLC6A5 SPR TH ARHGEF9 GPHN PSAT1 SLC25A22 ABAT DBH
More info about this panel United States.
Invitae Treatable Neurometabolic Disorders Panel Panel
United States.
By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel United States.
Phosphoglycerate dehydrogenase deficiency, PHGDH-related Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the PHGDH gene.
More info about this panel United States.
Inheritest NGS, Ashkenazi Jewish Ancestry Panel Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Ashkenazi Jewish Ancestry Panel that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR SUMF1 DHDDS
More info about this panel United States.
Inheritest NGS, Comprehensive Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel United States.
Migraine NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Migraine NGS Panel that also includes the following genes: SCN1A SLC2A1 CDKL5 STXBP1 CACNA1A PCDH19 ARX PNPO FOLR1 FOXG1
More info about this panel United States.
PHGDH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PHGDH gene.
More info about this panel United States.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Finland.
By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ
More info about this panel Finland.
Neuronal Migration Disorder Panel Panel
Finland.
By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18
More info about this panel Finland.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BCL3 PTEN ALG3 CAD ABCB6 MMAA FH