LMBRD1 gene related symptoms and diseases
All the information presented here about the LMBRD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LMBRD1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Stomatitis | Very Common - Between 80% and 100% cases |
| Abnormality of the skin | Very Common - Between 80% and 100% cases |
| Pancytopenia | Very Common - Between 80% and 100% cases |
| Psychosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with LMBRD1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Incoordination
- Rheumatoid arthritis
- Macrocytic anemia
- Megaloblastic anemia
- Juvenile rheumatoid arthritis
- Methylmalonic aciduria
- Neutropenia
- Homocystinuria
And 32 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LMBRD1 gene
Here you will find a list of rare diseases related to the LMBRD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF
Alternate names
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of, cobalamin f defect, combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf, cblf, vitamin b12 storage disease, vitamin b12 lysosomal release defect, methylmalonic aciduria due to vitamin b12-rele
Description
cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
Most common symptoms of METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF
Search interest in LMBRD1
Potential gene panels for LMBRD1 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 United States.
LMBRD1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the LMBRD1 gene.
More info about this panel United States.
LMBRD1 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the LMBRD1 gene.
More info about this panel United States.
LMBRD1 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the LMBRD1 gene.
More info about this panel United States.
LMBRD1 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the LMBRD1 gene.
More info about this panel United States.
Cobalamin Metabolism Panel (MitomeNGS) Panel
United States.
By Baylor Miraca Genetics Laboratories Cobalamin Metabolism Panel (MitomeNGS) that also includes the following genes: TCN2 MMAA MMAB LMBRD1 MMACHC MMADHC MTR MTRR MMUT
More info about this panel United States.
Cobalamin F Deficiency - LMBRD1 Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the LMBRD1 gene.
More info about this panel United States.
Cobalamin F Deficiency - LMBRD1 Del/Dup Analysis Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the LMBRD1 gene.
More info about this panel United States.
Comprehensive Mitochondrial Metabolic Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS MCEE MMAA MMAB LMBRD1
More info about this panel United States.
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) that also includes the following genes: SGSH SLC2A1 SPR NPC2 CBS APTX COQ8A PDSS1 MMAA MMAB
More info about this panel Netherlands.
LMBRD1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the LMBRD1 gene.
More info about this panel Spain.
Methylmalonic aciduria cbIF type (sequence analysis of LMBRD1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the LMBRD1 gene.
More info about this panel Portugal.
Methylmalonic aciduria (NGS panel for 15 genes) Panel
Portugal.
By CGC Genetics Methylmalonic aciduria (NGS panel for 15 genes) that also includes the following genes: SUCLA2 SUCLG1 CD320 MCEE MMAA MMAB LMBRD1 MMACHC MMADHC ACSF3
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Methylmalonic Aciduria and Homocystinuria Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Methylmalonic Aciduria and Homocystinuria Sequencing Panel with CNV Detection that also includes the following genes: TCN2 CD320 LMBRD1 MMACHC MMADHC HCFC1 ABCD4
More info about this panel United States.
Methylmalonic Aciduria and Homocystinuria, cblF type, via LMBRD1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the LMBRD1 gene.
More info about this panel United States.
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS CD320 MCEE MMAA MMAB
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Methylmalonic aciduria and homocystinuria, cblF type (LMBRD1) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the LMBRD1 gene.
More info about this panel Netherlands.
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 Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Methylmalonic aciduria and homocystinuria cb1F type Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LMBRD1 gene.
More info about this panel Germany.
LMBRD1 - CblF Panel
Sweden.
By Centre for Inherited Metabolic Diseases Karolinska University Hospital
This panel specifically test the LMBRD1 gene.
More info about this panel Sweden.
Methylmalonic Aciduria and Homocystinuria Panel
Estonia.
By Asper Biogene Asper Biogene LLC Methylmalonic Aciduria and Homocystinuria that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS CD320 MCEE MMAA MMAB
More info about this panel Estonia.
Methylmalonic aciduria and homocystinuria, cbIF Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the LMBRD1 gene.
More info about this panel Austria.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Methylmalonic aciduria and homocystinuria, cbIF Panel
Slovakia.
By MedGene
This panel specifically test the LMBRD1 gene.
More info about this panel Slovakia.
Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel
United States.
By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ
More info about this panel United States.
Invitae Combined Methylmalonic Acidemia and Homocystinuria Panel Panel
United States.
By Invitae Invitae Combined Methylmalonic Acidemia and Homocystinuria Panel that also includes the following genes: TCN1 TCN2 AMN CD320 LMBRD1 MMACHC MMADHC CUBN CBLIF HCFC1
More info about this panel United States.
Invitae Treatable Neurometabolic Disorders Panel Panel
United States.
By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel United States.
Inherited Metabolic Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panel United States.
Cobalamin Homocysteine Methionine Deficiency NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Cobalamin Homocysteine Methionine Deficiency NGS Panel that also includes the following genes: TCN2 CBS CD320 MCEE MMAA MMAB LMBRD1 MMACHC CTH MMADHC
More info about this panel United States.
Lysosomal Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
Methylmalonic Acid Metabolism NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Methylmalonic Acid Metabolism NGS Panel that also includes the following genes: SUCLA2 SUCLG1 TCN2 CD320 MCEE MMAA MMAB LMBRD1 MMACHC MMADHC
More info about this panel United States.
Methylmalonic Aciduria and Homocystinuria NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Methylmalonic Aciduria and Homocystinuria NGS Panel that also includes the following genes: LMBRD1 MMACHC MMADHC
More info about this panel United States.
LMBRD1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LMBRD1 gene.
More info about this panel United States.
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel
Finland.
By Blueprint Genetics Organic Acidemia/Aciduria & Cobalamin Deficiency Panel that also includes the following genes: BCS1L SLC25A1 SUCLG1 TCN2 UMPS AMN CBS SUGCT CD320 MCEE
More info about this panel Finland.
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 Finland.
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE Panel
Spain.
By Bioarray
This panel specifically test the LMBRD1 gene.
More info about this panel Spain.
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA Panel
Spain.
By Laboratorio de Genetica Clinica SL METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA that also includes the following genes: LMBRD1 MMACHC MMADHC HCFC1 ABCD4
More info about this panel Spain.
METHYLMALONIC ACIDEMIA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL METHYLMALONIC ACIDEMIA: NGS PANEL that also includes the following genes: SUCLA2 SUCLG1 CD320 MCEE MMAA MMAB LMBRD1 MMACHC MMADHC ACSF3
More info about this panel Spain.
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE Panel
Brazil.
By Genera
This panel specifically test the LMBRD1 gene.
More info about this panel Brazil.
Methylmalonic Acidemia with Homocystinuria Type Cblf, Sequencing LMBRD1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the LMBRD1 gene.
More info about this panel Spain.
Methylmalonic Acidemia , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Methylmalonic Acidemia , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: MMAA MMAB LMBRD1 MMACHC MMADHC ABCD4 MMUT
More info about this panel Spain.
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel
Spain.
By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5
More info about this panel Spain.
Methylmalonic acidemia: gene sequencing panel (RAPID testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Methylmalonic acidemia: gene sequencing panel (RAPID testing) that also includes the following genes: TCN2 CD320 MMAA MMAB LMBRD1 MMACHC MMADHC ACSF3 HCFC1 ABCD4
More info about this panel Canada.
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