Diarrhea 2, With Microvillus Atrophy; Diar2

Description

Microvillus inclusion disease (MVID) is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset MVID with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. Definite diagnosis is made by transmission electron microscopy demonstrating shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature enterocytes and peripheral accumulation of periodic acid-Schiff (PAS)-positive granules or vesicles in immature enterocytes (Muller et al., 2008). The natural course of MVID is often fatal, but partial or total weaning from parenteral nutrition has been described.

Genes related to Diarrhea 2, With Microvillus Atrophy; Diar2

MYO5B
STX3

Clinical Features

Top most frequent phenotypes and symptoms related to Diarrhea 2, With Microvillus Atrophy; Diar2

Global developmental delay
Pica
Growth delay
Failure to thrive
Milia
Diarrhea
Polyhydramnios
Pruritus
Malabsorption
Metabolic acidosis

And another 13 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.

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Diarrhea 2, With Microvillus Atrophy; Diar2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cholestasis Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, CFTR, LIPA, NPC1, NPC2, SERPINA1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, NOTCH2, HSD3B7, NR1H4 , (...) View the complete list with 1 more genes Panel GTR000553459 complete gene list ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, CFTR, LIPA, NPC1, NPC2, SERPINA1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, NOTCH2, HSD3B7, NR1H4, MYO5B Specificity 5 % Genes 50 %
Congenital Diarrhea Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...) View the complete list with 1 more genes Panel GTR000553462 complete gene list EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C, SPINT2 Specificity 10 % Genes 100 %
Cholestasis Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, CFTR, LIPA, NPC1, NPC2, SERPINA1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, NOTCH2, HSD3B7, NR1H4 , (...) View the complete list with 1 more genes Panel GTR000553489 complete gene list ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, CFTR, LIPA, NPC1, NPC2, SERPINA1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, NOTCH2, HSD3B7, NR1H4, MYO5B Specificity 5 % Genes 50 %
Congenital Diarrhea Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...) View the complete list with 1 more genes Panel GTR000553495 complete gene list EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C, SPINT2 Specificity 10 % Genes 100 %
Congenital Diarrhea Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...) View the complete list with 1 more genes Panel GTR000553500 complete gene list EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C, SPINT2 Specificity 10 % Genes 100 %
Microvillus inclusion disease (sequence analysis of MYO5B gene). By CGC Genetics in Portugal. MYO5B Specificity 100 % Genes 50 %
Hepatic and pancreatic diseases - panels. By MGZ Medical Genetics Center in Germany. HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17 , (...) View the complete list with 49 more genes Panel GTR000552436 complete gene list HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17, GALT, ASS1, CYP27A1, MKS1, FECH, PPOX, CPOX, CFTR, DHCR7, LIPA, NPC1, NPC2, PEX2, PEX7, SERPINA1, PEX1, PKHD1, TMEM216, CYP7B1, PEX6, TJP2, PEX14, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, UROS, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, EPHX1, NOTCH2, HSD3B7, SLCO1B1, SLCO1B3, PEX11B, UROD, HMBS, NR1H4, MYO5B, ALAD, SLC27A5, UTP4 Specificity 2 % Genes 50 %
MYO5B. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. MYO5B Specificity 100 % Genes 50 %
MYO5B. By Division Human Genetics Medical University Innsbruck in Austria. MYO5B Specificity 100 % Genes 50 %
MYO5B. By Fulgent Genetics Fulgent Genetics in United States. MYO5B Specificity 100 % Genes 50 %
Cholestasis Panel. By Blueprint Genetics in Finland. EPCAM, ABCB11, ABCB4, ATP8B1, TRMU, JAG1, NPHP3, NPHP1, NPHP4, SLC25A13, SMPD1, DGUOK, FAH, MKS1, CFTR, NPC1, NPC2, PEX2, SERPINA1, UGT1A1 , (...) View the complete list with 26 more genes Panel GTR000552643 complete gene list EPCAM, ABCB11, ABCB4, ATP8B1, TRMU, JAG1, NPHP3, NPHP1, NPHP4, SLC25A13, SMPD1, DGUOK, FAH, MKS1, CFTR, NPC1, NPC2, PEX2, SERPINA1, UGT1A1, PEX1, TMEM216, CYP7B1, DCDC2, PEX6, TJP2, PEX26, PEX10, PEX12, PEX5, AKR1D1, LMF1, NEUROG3, VPS33B, VIPAS39, BAAT, ABCC2, TTC37, NOTCH2, HSD3B7, CREB3L3, LCT, SLC26A3, NR1H4, MYO5B, SPINT2 Specificity 3 % Genes 50 %
Congenital Diarrhea Panel. By Blueprint Genetics in Finland. EPCAM, CYP27A1, LIPA, MVK, NCF2, NEUROG3, XIAP, IL10RA, SI, TTC37, TTC7A, SKIV2L, IL10RB, IL10, SAR1B, LCT, SLC5A1, SLC26A3, MYO5B, STX3 , (...) View the complete list with 7 more genes Panel GTR000552661 complete gene list EPCAM, CYP27A1, LIPA, MVK, NCF2, NEUROG3, XIAP, IL10RA, SI, TTC37, TTC7A, SKIV2L, IL10RB, IL10, SAR1B, LCT, SLC5A1, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C, SPINT2, IL21, ADAM17, SLC10A2 Specificity 8 % Genes 100 %
Progressive Familial Intrahepatic Cholestasis NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. ABCB11, ABCB4, ATP8B1, TJP2, NR1H4, MYO5B Specificity 17 % Genes 50 %
MYO5B Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. MYO5B Specificity 100 % Genes 50 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test. By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan. HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1 , (...) View the complete list with 53 more genes Panel GTR000558423 complete gene list HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1, ASL, CFTR, LIPA, NPC1, NPC2, HBA1, G6PD, HBA2, SERPINA1, UGT1A1, PKHD1, PKD2, PKD1, CYP7B1, DCDC2, TJP2, ABCB1, TFAM, FTL, AKR1D1, SCO1, VPS33B, BAAT, SLC40A1, ABCC2, TFR2, PRKCSH, HAMP, HJV, CLDN1, EPHX1, SLC10A1, NOTCH2, HSD3B7, SLCO1B1, SLCO1B3, SEC63, CYP7A1, COPA, NR1H4, MYO5B, CD14, FOXM1, CHMP5, SLC51A, SLC51B, SLCO1A2, SLCO2B1, ABCC3, ABCC4, HES1, ONECUT1, FGF19 Specificity 2 % Genes 50 %
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes. By Reference Laboratory Genetics in Spain. TGFB1, CYBA, IL2RG, IKBKG, TINF2, CYBB, WAS, GATA3, FOXP1, FOXP3, DKC1, ABCB1, TERC, TERT, SH2D1A, NCF2, NCF4, WRAP53, NOD2, CD40LG , (...) View the complete list with 25 more genes Panel GTR000559806 complete gene list TGFB1, CYBA, IL2RG, IKBKG, TINF2, CYBB, WAS, GATA3, FOXP1, FOXP3, DKC1, ABCB1, TERC, TERT, SH2D1A, NCF2, NCF4, WRAP53, NOD2, CD40LG, XIAP, STXBP2, WIPF1, CTLA4, IL10RA, IL17F, CARD9, ICOS, IL10RB, IL2RA, IL10, PLCG2, NCF1, MYO5B, GUCY2C, IL21, IL21R, IL17RA, IL6, ADAM17, ATG16L1, FUT2, IL23R, IRGM, PTGER4 Specificity 3 % Genes 50 %
Microvillus Inclusion Disease, Massive Sequencing (NGS) MYO5B gene. By Reference Laboratory Genetics in Spain. MYO5B Specificity 100 % Genes 50 %
STX3. By Fulgent Genetics Fulgent Genetics in United States. STX3 Specificity 100 % Genes 50 %

Alternate names

Diarrhea 2, With Microvillus Atrophy; Diar2 Is also known as microvillus inclusion disease;mvid, microvillus atrophy, congenital, davidson disease, congenital familial protracted diarrhea with enterocyte brush-border abnormalities, intractable diarrhea of infancy;congenital microvillous atrophy; congenital microvillus atrophy; mvid; microvillous inclusion disease.

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