Phosphoserine Aminotransferase Deficiency

Description

Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.

Clinical Features

Top most frequent phenotypes and symptoms related to Phosphoserine Aminotransferase Deficiency

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Feeding difficulties
  • Hypertonia
  • Myoclonus
  • Feeding difficulties in infancy
  • Cerebellar vermis hypoplasia
  • Postnatal microcephaly
  • Hyposerinemia

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Phosphoserine Aminotransferase Deficiency Is also known as psat deficiency.

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.


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Phosphoserine Aminotransferase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 aminotransferase deficiency (sequence analysis of PSAT1 gene).

By CGC Genetics (Portugal).

PSAT1
Specificity
100 %
Genes
100 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics (Portugal).

SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL
Specificity
6 %
Genes
100 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics (Portugal).

SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL
Specificity
6 %
Genes
100 %
Neu-Laxova syndrome NGS panel.

By Connective Tissue Gene Tests (United States).

PSAT1, PHGDH
Specificity
50 %
Genes
100 %
Neu-Laxova syndrome Comprehensive panel.

By Connective Tissue Gene Tests (United States).

PSAT1, PHGDH
Specificity
50 %
Genes
100 %
Neu-Laxova syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

PSAT1, PHGDH
Specificity
50 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %

We have 11 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4

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