ABHD5 gene related symptoms and diseases

All the information presented here about the ABHD5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ABHD5 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microtia Uncommon - Between 30% and 50% cases
Decreased plasma carnitine Uncommon - Between 30% and 50% cases
Congenital nonbullous ichthyosiform erythroderma Uncommon - Between 30% and 50% cases
Subcapsular cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ABHD5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormality of blood and blood-forming tissues
  • Congenital ichthyosiform erythroderma
  • Erythroderma
  • Ectropion
  • Scaling skin
  • Aortic regurgitation
  • Everted lower lip vermilion
  • Hepatic steatosis

And 18 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ABHD5 gene

Here you will find a list of rare diseases related to the ABHD5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DORFMAN-CHANARIN DISEASE


Alternate names

DORFMAN-CHANARIN DISEASE Is also known as neutral lipid storage disease with ichthyosis, nlsdi


More info about DORFMAN-CHANARIN DISEASE

SOURCES: ORPHANET

CHANARIN-DORFMAN SYNDROME; CDS


Alternate names

CHANARIN-DORFMAN SYNDROME; CDS Is also known as neutral lipid storage disease with ichthyosis, dcs, nlsdi, triglyceride storage disease with impaired long-chain fatty acid oxidation, dorfman-chanarin syndrome, chanarin-dorfman disease, ichthyosiform erythroderma with leukocyte vacuolation, ichthyotic neutral

Most common symptoms of CHANARIN-DORFMAN SYNDROME; CDS

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


More info about CHANARIN-DORFMAN SYNDROME; CDS

SOURCES: OMIM ORPHANET


Potential gene panels for ABHD5 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

Hearing Loss Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD

More info about this panel

ABHD5 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ABHD5 gene.

More info about this panel

ABHD5 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the ABHD5 gene.

More info about this panel

Chanarin-Dorfman syndrome (sequence analysis of ABHD5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABHD5 gene.

More info about this panel

Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SLC27A4 ST14 TGM1 ALOXE3 ABCA12 CLDN1 POMP PNPLA1 ABHD5 LIPN

More info about this panel

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel that also includes the following genes: RYR1 SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 RBCK1 COQ8A

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

Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis Panel

Germany.

By MGZ Medical Genetics Center Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis that also includes the following genes: RYR1 SLC22A5 LPIN1 FKRP ABHD5 CPT2 ANO5 DMD ISCU FDX2

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

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 panel

Mitochondrial Diseases Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12

More info about this panel

Mitochondrial Hepato(encephalo)pathy and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Hepato(encephalo)pathy and Phenocopies that also includes the following genes: BCS1L SCO1 SUCLG1 TWNK TSFM GFM1 ABHD5 CPT1A TRMU DGUOK

More info about this panel

Episodic Ataxia and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Episodic Ataxia and Phenocopies that also includes the following genes: SLC1A3 SLC22A5 SLC25A15 SLC2A1 CACNA1A CACNA1C CACNB4 ABHD5 CPT2 DARS2

More info about this panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5

More info about this panel

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1

More info about this panel

Metabolic myopathies panel Panel

Germany.

By Centogene AG - the Rare Disease Company Metabolic myopathies panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ABHD5 CPT2 PNPLA2 AGL ENO3 ETFA

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

Chanarin-Dorfman syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ABHD5 gene.

More info about this panel

Ichthyoses and related disorders of cornification Panel Panel

Germany.

By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL

More info about this panel

Metabolic Myopathies Panel Panel

Germany.

By CeGaT GmbH Metabolic Myopathies Panel that also includes the following genes: SLC16A1 SLC22A5 TAZ LPIN1 SLC25A20 PUS1 RBCK1 RRM2B ABHD5 ACAD9

More info about this panel

Single gene testing ABHD5 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ABHD5 gene.

More info about this panel

Chanarin-Dorfman Syndrome Panel

Spain.

By Innovagenomics Innovagenomics S.L

This panel specifically test the ABHD5 gene.

More info about this panel

Metabolic Myopathy and Rhabdomyolysis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Metabolic Myopathy and Rhabdomyolysis that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 CAV3

More info about this panel

METABOLIC MYOPATHIES Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases METABOLIC MYOPATHIES that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ABHD5 CPT2 PNPLA2 AGL ENO3 ETFA

More info about this panel

Hearing Loss: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A

More info about this panel

Hearing Loss: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C

More info about this panel

ABHD5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ABHD5 gene.

More info about this panel

Ichthyosis Panel Panel

Finland.

By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1

More info about this panel

Lipid Myopathies , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Lipid Myopathies , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SLC22A5 ABHD5 PNPLA2 ETFA ETFB ETFDH

More info about this panel

Congenital Myopathy , Panel Massive Sequencing (NGS) 26 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Myopathy , Panel Massive Sequencing (NGS) 26 Genes that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ABHD5 CPT2 PNPLA2 AGL ENO3 ETFA

More info about this panel


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