AHCY gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to AHCY gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Neoplasm of the liver Very Common - Between 80% and 100% cases
Cholestasis Very Common - Between 80% and 100% cases
Hepatitis Very Common - Between 80% and 100% cases
Hepatic failure Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Abnormality of the liver
  • Edema
  • Failure to thrive
  • Neoplasm
  • Not very common - Between 30% and 50% cases

  • Back pain
  • Abnormality of the hand
  • Schizophrenia
  • Hypercalciuria

And 109 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to AHCY gene

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


PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY


Alternate names

PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY Is also known as hypermethioninemia due to s-adenosylhomocysteine hydrolase deficiency

Description

Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.

Most common symptoms of PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Neoplasm


More info about PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY

SOURCES: OMIM ORPHANET

WILSON DISEASE


Alternate names

WILSON DISEASE Is also known as wd, hepatolenticular degeneration, wnd

Description

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

Most common symptoms of WILSON DISEASE

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


More info about WILSON DISEASE

SOURCES: MESH OMIM ORPHANET


Potential gene panels for AHCY gene

AHCY Familial Mutation/Variant Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the AHCY gene.

More info about this panel

AHCY Prenatal Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the AHCY gene.

More info about this panel

AHCY Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the AHCY gene.

More info about this panel

Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency Panel

Czech Republic.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague

This panel specifically test the AHCY gene.

More info about this panel

Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency (sequence analysis of AHCY gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the AHCY gene.

More info about this panel

Hypermethioninemia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypermethioninemia Sequencing Panel with CNV Detection that also includes the following genes: AHCY GNMT MAT1A

More info about this panel

S-Adenosylhomocysteine Hydrolase Deficiency via AHCY Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the AHCY gene.

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

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

Hypermethioninemia with s-adenosylhomocysteine hydrolase (SAHH) deficiency (AHCY) Panel

Netherlands.

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

This panel specifically test the AHCY gene.

More info about this panel

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AHCY 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

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 Elevated Methionine Panel Panel

United States.

By Invitae Invitae Elevated Methionine Panel that also includes the following genes: CBS AHCY GNMT MAT1A

More info about this panel

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

AHCY Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AHCY 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

Metabolic Myopathy and Rhabdomyolysis Panel Panel

Finland.

By Blueprint Genetics Metabolic Myopathy and Rhabdomyolysis Panel that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TWNK TK2 LPIN1 SLC25A20 CAV3 RBCK1

More info about this panel

Baby Genes Targeted Panel Panel

United States.

By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

Hypermethioninemia: gene sequencing panel (RAPID testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hypermethioninemia: gene sequencing panel (RAPID testing) that also includes the following genes: AHCY GNMT MAT1A

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

Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the AHCY gene.

More info about this panel


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