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.
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
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
Search interest in MYO5B
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Portugal.
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 Germany.
MYO5B Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the MYO5B gene.
More info about this panel Netherlands.
MYO5B Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the MYO5B gene.
More info about this panel Austria.
MYO5B Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MYO5B gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 United States.
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 United States.
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 Taiwan.
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 Spain.
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 Spain.
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 Spain.
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