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.
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
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
Search interest in AHCY
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 United States.
AHCY Prenatal Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the AHCY gene.
More info about this panel United States.
AHCY Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the AHCY gene.
More info about this panel United States.
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 Czech Republic.
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 Portugal.
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 United States.
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 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.
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 Germany.
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 Netherlands.
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 Germany.
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.
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.
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 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 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.
AHCY Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AHCY 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.
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 Finland.
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 United States.
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 Canada.
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 Canada.
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 Canada.
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 Canada.
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