MPDU1 gene related symptoms and diseases

All the information presented here about the MPDU1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MPDU1 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Hypertonia Very Common - Between 80% and 100% cases
Erythroderma Very Common - Between 80% and 100% cases
Scaling skin Very Common - Between 80% and 100% cases
Abnormality of vision Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MPDU1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Ichthyosis
  • Dry skin
  • Severe global developmental delay
  • Abnormality of the eye
  • Apnea
  • Hyperkeratosis
  • Severe short stature
  • Absent speech

And 16 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MPDU1 gene

Here you will find a list of rare diseases related to the MPDU1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MPDU1-CDG


Alternate names

MPDU1-CDG Is also known as congenital disorder of glycosylation type 1f, cdg syndrome type if, cdg-if, cdgif, cdg1f, carbohydrate deficient glycoprotein syndrome type if, congenital disorder of glycosylation type if, cdg if

Description

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.

Most common symptoms of MPDU1-CDG

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


More info about MPDU1-CDG

SOURCES: OMIM MESH ORPHANET


Potential gene panels for MPDU1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Congenital Disorders of Glycosylation Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Congenital Disorders of Glycosylation Panel that also includes the following genes: SLC35A1 ALG9 ALG1 ATP6V0A2 COG7 COG8 ALG12 SLC35C1 ALG3 ALG6

More info about this panel

Congenital Disorders of Glycosylation Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Congenital Disorders of Glycosylation that also includes the following genes: SLC35A1 COG5 ALG9 ALG1 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Glycosylation disorder type If (sequence analysis of MPDU1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MPDU1 gene.

More info about this panel

Congenital disorders of glycosylation (NGS panel for 39 genes) Panel

Portugal.

By CGC Genetics Congenital disorders of glycosylation (NGS panel for 39 genes) that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 COG4 COG6 COG7

More info about this panel

Congenital Disorders of Glycosylation (CDG) Sequencing Panel (Types Id, Ie, If, Ig, Ih, Ii) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation (CDG) Sequencing Panel (Types Id, Ie, If, Ig, Ih, Ii) with CNV Detection that also includes the following genes: ALG12 ALG3 ALG2 ALG8 DPM1 MPDU1

More info about this panel

Congenital Disorders of Glycosylation, Type If (CDG If) via MPDU1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MPDU1 gene.

More info about this panel

Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 TMEM199 ALG1 ATP6V0A2 COG4

More info about this panel

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

Congenital Disorders of Glycosylation (CDG) Panel

Germany.

By MGZ Medical Genetics Center Congenital Disorders of Glycosylation (CDG) that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Glycosylation disorder type 1F Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MPDU1 gene.

More info about this panel

Congenital Disorders of Glycosylation (CDG) Panel Panel

Germany.

By CeGaT GmbH Congenital Disorders of Glycosylation (CDG) Panel that also includes the following genes: SLC35A1 SLC35A2 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8 ALG12

More info about this panel

Congenital Disorders of Glycosylation (CDG) Panel Panel

Germany.

By CeGaT GmbH Congenital Disorders of Glycosylation (CDG) Panel that also includes the following genes: SLC35A1 SLC35A2 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8 ALG12

More info about this panel

Invitae Congenital Disorders of Glycosylation Panel Panel

United States.

By Invitae Invitae Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 TRIP11 COG5 ALG9 NGLY1 ALG1 ATP6V0A2

More info about this panel

Congenital disorder of multiple glycosylation (CDG) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of multiple glycosylation (CDG) that also includes the following genes: SEC23B SLC35A1 COG5 ALG9 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12

More info about this panel

Congenital Disorder of Glycosylation If: MPDU1 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the MPDU1 gene.

More info about this panel

Congenital Disorder of Glycosylation If: MPDU1 Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the MPDU1 gene.

More info about this panel

Congenital Disorders of Glycosylation: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP

More info about this panel

Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP

More info about this panel

Congenital Disorders of Glycosylation NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Congenital Disorders of Glycosylation NGS Panel that also includes the following genes: RPN2 SEC23B SLC35A1 COG5 ALG9 ALG1 ATP6V0A2 COG4 COG6 COG7

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

MPDU1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MPDU1 gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Congenital Disorders of Glycosylation Panel Panel

Finland.

By Blueprint Genetics Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 ATP6V0A2 COG4

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SEC23B COG5 ALG9 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12 SLC35C1

More info about this panel


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