3-phosphoserine Phosphatase Deficiency

Description

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

Clinical Features

Top most frequent phenotypes and symptoms related to 3-phosphoserine Phosphatase Deficiency

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Intrauterine growth retardation
  • Hypertonia
  • Cerebral atrophy
  • Postnatal growth retardation

And another 2 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

3-phosphoserine Phosphatase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy/Seizure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, BTD, SPTAN1, CDKL5, STXBP1, SYN1, TSC1, TSC2, UBE3A, CNTNAP2, CACNA1A, CACNB4, ARHGEF9 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Epilepsy Panel - Comprehensive.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, SPTAN1, CDKL5, STXBP1, SUOX, SYNGAP1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, CERS1, PCDH19 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Phosphoserine phosphatase deficiency (sequence analysis of PSPH gene).

By CGC Genetics (Portugal).

PSPH
Specificity
100 %
Genes
100 %
Phosphoserine phosphatase deficiency (PSPH).

By VU University Medical Center Metabolic Unit, PX 1X 009 (Netherlands).

PSPH
Specificity
100 %
Genes
100 %
PSP.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

PSPH
Specificity
100 %
Genes
100 %
Serine synthesis defect panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

PSAT1, PHGDH, PSPH
Specificity
34 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
New Born testing (CentoICU).

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %

You can get up to 5 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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