ABCD4 gene related symptoms and diseases

All the information presented here about the ABCD4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ABCD4 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Aciduria Very Common - Between 80% and 100% cases
Decreased adenosylcobalamin Very Common - Between 80% and 100% cases
Decreased methylcobalamin Very Common - Between 80% and 100% cases
Hyperhomocystinemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ABCD4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Methylmalonic acidemia
  • Horizontal ribs
  • Abnormal posturing
  • Homocystinuria
  • Methylmalonic aciduria
  • Bell-shaped thorax
  • Tachypnea
  • Pulmonary arterial hypertension

And 19 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ABCD4 gene

Here you will find a list of rare diseases related to the ABCD4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ


Alternate names

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblj, methylmalonic aciduria with homocystinuria, type cblj, cblj defects, cobalamin j defect

Description

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF ) (summary by Coelho et al., 2012).

Most common symptoms of METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia


More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ

SOURCES: OMIM ORPHANET


Potential gene panels for ABCD4 gene

ABCD4 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ABCD4 gene.

More info about this panel

ABCD4 Familial Mutation/Variant Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ABCD4 gene.

More info about this panel

ABCD4 Prenatal Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ABCD4 gene.

More info about this panel

ABCD4 Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ABCD4 gene.

More info about this panel

ABCD4 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ABCD4 gene.

More info about this panel

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

Methylmalonic aciduria cbIJ type (sequence analysis of ABCD4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABCD4 gene.

More info about this panel

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

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

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

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

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

Methylmalonic Aciduria and Homocystinuria, cblJ Type, via ABCD4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ABCD4 gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

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

Methylmalonic aciduria and homocystinuria, cblJ type (ABCD4) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the ABCD4 gene.

More info about this panel

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

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

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

Methylmalonic aciduria and homocystinuria, cblJ type Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ABCD4 gene.

More info about this panel

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

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

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

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

ABCD4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ABCD4 gene.

More info about this panel

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

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

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

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

Methylmalonic Acidemia with Homocystinuria Type CblJ, Sequencing ABCD4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ABCD4 gene.

More info about this panel

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

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

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2

More info about this panel

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

cblJ Type Methylmalonic aciduria and homocystinuria: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the ABCD4 gene.

More info about this panel


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