MTTP gene related symptoms and diseases
All the information presented here about the MTTP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MTTP gene
Symptoms // Phenotype | % Cases |
---|---|
Abnormality of the coagulation cascade | Very Common - Between 80% and 100% cases |
Abetalipoproteinemia | Very Common - Between 80% and 100% cases |
Fat malabsorption | Very Common - Between 80% and 100% cases |
Hypocholesterolemia | Very Common - Between 80% and 100% cases |
Ataxia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MTTP gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Peripheral neuropathy
- Peripheral demyelination
- Hepatic steatosis
- Decreased LDL cholesterol concentration
- Retinal degeneration
- Rod-cone dystrophy
- Acanthocytosis
- Abnormality of the liver
And 25 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MTTP gene
Here you will find a list of rare diseases related to the MTTP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ABETALIPOPROTEINEMIA
Alternate names
ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic, fhbl, hypobetalipoproteinemia, familial, acanthocytosis with hypobetalipoproteinemia, homozygous familial hypobetalipoproteinemia, bassen-kornzweig disease
Description
Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.
Most common symptoms of ABETALIPOPROTEINEMIA
- Global developmental delay
- Ataxia
- Muscular hypotonia
- Anemia
- Visual impairment
More info about ABETALIPOPROTEINEMIA
ABETALIPOPROTEINEMIA; ABL
Alternate names
ABETALIPOPROTEINEMIA; ABL Is also known as microsomal triglyceride transfer protein deficiency, acanthocytosis, bassen-kornzweig syndrome, mtp deficiency
Description
Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL ) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014).
Most common symptoms of ABETALIPOPROTEINEMIA; ABL
- Ataxia
- Peripheral neuropathy
- Rod-cone dystrophy
- Abnormality of the liver
- Retinopathy
More info about ABETALIPOPROTEINEMIA; ABL
SOURCES: OMIM
Search interest in MTTP
Potential gene panels for MTTP gene
GeneAware Complete Panel Version 2 (Female) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelGeneAware Complete Panel Version 2 (Male) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelGeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel
By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Female) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1
More info about this panelGeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel
By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Male) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1
More info about this panelHypolipidemia and Hypocholesterolemia Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hypolipidemia and Hypocholesterolemia that also includes the following genes: PCSK9 ANGPTL3 MTTP
More info about this panelMTTP Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the MTTP gene.
More info about this panelDyslipidemia NGS panel (29 genes), Sequence & CNV analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis that also includes the following genes: SAR1B SLCO1B1 ABCG5 ABCG8 LMF1 SCARB1 APOA5 LDLRAP1 CETP PCSK9
More info about this panelCongenital Diarrhea Seq Analysis Panel
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 panelCongenital Diarrhea Del/Dup Panel Panel
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 panelCongenital Diarrhea Seq + Del/Dup Panel Panel
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 panelHereditary ataxias (NGS panel for 44 genes) Panel
By CGC Genetics Hereditary ataxias (NGS panel for 44 genes) that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA VAMP1 VLDLR CACNA1A CACNB4 ELOVL4 ABHD12
More info about this panelAbetalipoproteinemia (sequence analysis of MTTP gene) Panel
By CGC Genetics
This panel specifically test the MTTP gene.
More info about this panelAbetalipoproteinemia (sequence analysis of MTTP gene) Panel
By CGC Genetics
This panel specifically test the MTTP gene.
More info about this panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelAbetalipoproteinemia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MTTP gene.
More info about this panelAtaxia and differential diagnoses Panel Panel
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panelSingle gene testing MTTP Panel
By CeGaT GmbH
This panel specifically test the MTTP gene.
More info about this panelEye diseases comprehensive panel Panel
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelDyslipidemias / Early atherosclerosis Panel
By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1
More info about this panelHypolipidemias Panel
By Health in Code Hypolipidemias that also includes the following genes: SAR1B PCSK9 MYLIP ANGPTL3 APOC3 LCAT ABCG1 MTTP
More info about this panelRetinal Dystrophy Panel Panel
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelMVL Vision Panel Panel
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelAbetalipoproteinemia Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the MTTP gene.
More info about this panelAbetalipoproteinemia Panel
By MedGene
This panel specifically test the MTTP gene.
More info about this panelAbetalipoproteinemia: MTP gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the MTTP gene.
More info about this panelAtaxia Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ataxia that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA CACNA1A CACNB4 APTX TGM6 COQ8A SYNE1
More info about this panelHypobetalipoproteinemia Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hypobetalipoproteinemia that also includes the following genes: PCSK9 ANGPTL3 MTTP
More info about this panelEye Disorders: Comprehensive Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelHereditary Neuropathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelEye Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelHereditary Neuropathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelInheritest NGS, Ashkenazi Jewish Ancestry Panel Panel
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Ashkenazi Jewish Ancestry Panel that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR SUMF1 DHDDS
More info about this panelAbetalipoproteinemia Panel
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the MTTP gene.
More info about this panelInheritest NGS, Comprehensive Panel
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panelEye Disorders NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panelMTTP Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MTTP gene.
More info about this panelRetinal Dystrophy Panel Panel
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panelAtaxia Panel Panel
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panelBASSEN-KORNZWEIG SYNDROME/ ABETALIPOPROTEINEMIA/ ACANTHOCYTOSIS Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the MTTP gene.
More info about this panelFAMILIAL HYPOBETALIPOPROTEINEMIA Panel
By Laboratorio de Genetica Clinica SL FAMILIAL HYPOBETALIPOPROTEINEMIA that also includes the following genes: PCSK9 ANGPTL3 MTTP
More info about this panelABETALIPOPROTEINEMIA Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the MTTP gene.
More info about this panelFAMILIAL HYPOBETALIPOPROTEINEMIA/FAMILIAL HYPERCHOLESTEROLEMIA NGS PANEL Panel
By Laboratorio de Genetica Clinica SL FAMILIAL HYPOBETALIPOPROTEINEMIA/FAMILIAL HYPERCHOLESTEROLEMIA NGS PANEL that also includes the following genes: LDLRAP1 PCSK9 CYP7A1 ANGPTL3 LDLR MTTP
More info about this panelAbetalipoproteinemia , Sequencing MTP Gene Panel
By Reference Laboratory Genetics
This panel specifically test the MTTP gene.
More info about this panelFamilial Hypobetalipoproteinemia , Panel Massive Sequencing (NGS) 4 Genes Panel
By Reference Laboratory Genetics Familial Hypobetalipoproteinemia , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: PCSK9 ANGPTL3 MTTP
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