MYO5B gene related symptoms and diseases

All the information presented here about the MYO5B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MYO5B gene

Symptoms // Phenotype % Cases
Global developmental delay Uncommon - Between 30% and 50% cases
Nephrocalcinosis Uncommon - Between 30% and 50% cases
Abnormal delivery Uncommon - Between 30% and 50% cases
Intractable diarrhea Uncommon - Between 30% and 50% cases
Protracted diarrhea Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MYO5B gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hypovolemia
  • Abnormal renal physiology
  • Villous atrophy
  • Malnutrition
  • Abnormal intestine morphology
  • Dehydration
  • Growth delay
  • Sepsis

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MYO5B gene

Here you will find a list of rare diseases related to the MYO5B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MICROVILLUS INCLUSION DISEASE


Alternate names

MICROVILLUS INCLUSION DISEASE Is also known as mvid, congenital microvillus atrophy, microvillous inclusion disease, congenital microvillous atrophy, congenital familial protracted diarrhea with enterocyte brush-border abnormalities, intractable diarrhea of infancy, microvillus inclusion disease, davidson di

Description

Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium.

Most common symptoms of MICROVILLUS INCLUSION DISEASE

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Polyhydramnios


More info about MICROVILLUS INCLUSION DISEASE

SOURCES: OMIM ORPHANET

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 1


Alternate names

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 1 Is also known as byler disease, fic1 deficiency, pfic1

Description

PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.


More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 1

SOURCES: ORPHANET

MYO5B-RELATED PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS


Alternate names

MYO5B-RELATED PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS Is also known as myo5b deficiency


More info about MYO5B-RELATED PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS

SOURCES: ORPHANET


Potential gene panels for MYO5B gene

Liver Diseases Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1

More info about this panel

Cholestasis Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Seq + Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1

More info about this panel

Congenital Diarrhea Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq Analysis that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR

More info about this panel

Cholestasis Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1

More info about this panel

Congenital Diarrhea Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR

More info about this panel

Congenital Diarrhea Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq + Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR

More info about this panel

Microvillus inclusion disease (sequence analysis of MYO5B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MYO5B gene.

More info about this panel

Hepatic and pancreatic diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B

More info about this panel

MYO5B Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the MYO5B gene.

More info about this panel

MYO5B Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the MYO5B gene.

More info about this panel

MYO5B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MYO5B gene.

More info about this panel

Cholestasis Panel Panel

Finland.

By Blueprint Genetics Cholestasis Panel that also includes the following genes: SLC25A13 SMPD1 SPINT2 EPCAM TJP2 UGT1A1 VPS33B NEUROG3 LMF1 NPC2

More info about this panel

Congenital Diarrhea Panel Panel

Finland.

By Blueprint Genetics Congenital Diarrhea Panel that also includes the following genes: SAR1B SI SKIV2L SLC10A2 SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3

More info about this panel

Progressive Familial Intrahepatic Cholestasis NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Progressive Familial Intrahepatic Cholestasis NGS and Deletion/Duplication Panel that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4 MYO5B NR1H4

More info about this panel

MYO5B Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the MYO5B gene.

More info about this panel

Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel

Taiwan.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1

More info about this panel

MICROVILLUS INCLUSION DISEASE (CONGENITAL MICROVILLUS ATROPHY) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the MYO5B gene.

More info about this panel

Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel

Spain.

By Reference Laboratory Genetics Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes that also includes the following genes: SH2D1A STXBP2 TERC TERT TGFB1 TINF2 CD40LG WAS WIPF1 CARD9

More info about this panel

Microvillus Inclusion Disease, Massive Sequencing (NGS) MYO5B gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MYO5B gene.

More info about this panel


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