FAH gene related symptoms and diseases
All the information presented here about the FAH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FAH gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neoplasm | Very Common - Between 80% and 100% cases |
| Ileus | Very Common - Between 80% and 100% cases |
| Glomerulosclerosis | Very Common - Between 80% and 100% cases |
| Rickets | Very Common - Between 80% and 100% cases |
| Abnormality of coagulation | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with FAH gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Axonal degeneration
- Hepatocellular carcinoma
- Enlarged kidney
- Self-mutilation
- Renal tubular dysfunction
- Acute hepatic failure
- Neoplasm of the liver
- Hypophosphatemic rickets
And 42 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FAH gene
Here you will find a list of rare diseases related to the FAH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TYROSINEMIA TYPE 1
Alternate names
TYROSINEMIA TYPE 1 Is also known as hepatorenal tyrosinemia, fumarylacetoacetase deficiency, fah deficiency, fumarylacetoacetate hydrolase deficiency, tyrosinemia type i
Description
Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.
Most common symptoms of TYROSINEMIA TYPE 1
- Neoplasm
- Failure to thrive
- Muscle weakness
- Pain
- Peripheral neuropathy
More info about TYROSINEMIA TYPE 1
Search interest in FAH
Potential gene panels for FAH 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.
FAH Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the FAH gene.
More info about this panel United States.
FAH Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the FAH gene.
More info about this panel United States.
FAH Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the FAH gene.
More info about this panel United States.
FAH Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the FAH gene.
More info about this panel United States.
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Female) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1
More info about this panel United States.
GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Male) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1
More info about this panel United States.
Liver Diseases Deletion/duplication panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Deletion/duplication panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1 ABCG5 ABCG8 NPC2
More info about this panel United States.
Liver Diseases Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1
More info about this panel United States.
FAH Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the FAH gene.
More info about this panel Germany.
ExomePLUS Electrolyte & Kidney Stone Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73
More info about this panel United States.
FAH Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the FAH gene.
More info about this panel United States.
FAH Remaining Exons Sequencing Panel
United States.
By GeneDx
This panel specifically test the FAH gene.
More info about this panel United States.
FAH Select Exons Sequencing Panel
United States.
By GeneDx
This panel specifically test the FAH gene.
More info about this panel United States.
FAH. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FAH gene.
More info about this panel Spain.
FAH. Detection of the mutations c.1062 5G>A (IVS12 5 G>A), c.554-1G>T (IVS6-1 G>T), c.607-6T>G (IVS7-6 T>G) and p.Pro261Leu (P261L) by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FAH gene.
More info about this panel Spain.
CHOP Comprehensive Hereditary Cancer Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
More info about this panel United States.
Tyrosinemia Type I Panel
Portugal.
By CGC Genetics
This panel specifically test the FAH gene.
More info about this panel Portugal.
Tyrosinemia, type I (sequence analysis of FAH gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FAH gene.
More info about this panel Portugal.
Tyrosinemia type 1 ( FAH) Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the FAH gene.
More info about this panel India.
Tyrosinemia Type I Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the FAH gene.
More info about this panel India.
Tyrosinemia, Type I via FAH Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the FAH gene.
More info about this panel United States.
Abnormal mineralization disorders Comprehensive Panel Panel
United States.
By Connective Tissue Gene Tests Abnormal mineralization disorders Comprehensive Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1
More info about this panel United States.
Abnormal mineralization disorders Deletion/ Duplication Panel Panel
United States.
By Connective Tissue Gene Tests Abnormal mineralization disorders Deletion/ Duplication Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1
More info about this panel United States.
Abnormal mineralization disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Abnormal mineralization disorders NGS panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1
More info about this panel United States.
Hypertrophic cardiomyopathy - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hypertrophic cardiomyopathy - different panels that also includes the following genes: RIT1 MRPL3 RRAS SLC22A5 BRAF SOS1 SOS2 SURF1 TNNI3 TNNT2
More info about this panel Germany.
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.
Hepatic and pancreatic diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B
More info about this panel Germany.
Diagnostic génotypique direct de la tyrosinémie héréditaire de type 1 Panel
Canada.
By Laboratoire de Diagnostic Moleculaire Hopital Saint-Francois d'Assise du CHU de Québec
This panel specifically test the FAH gene.
More info about this panel Canada.
Tyrosinemia type I Panel
Canada.
By PROCREA Genetic Laboratory PROCREA/Opmedic Group Inc.
This panel specifically test the FAH gene.
More info about this panel Canada.
Tyrosinemia type I Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FAH gene.
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.
Hypophosphatemic rickets Panel Panel
Germany.
By CeGaT GmbH Hypophosphatemic rickets Panel that also includes the following genes: SLC34A1 VDR CLCN5 SLC34A3 DMP1 ENPP1 FAH FGF23 KL OCRL
More info about this panel Germany.
Single gene testing FAH Panel
Germany.
By CeGaT GmbH
This panel specifically test the FAH gene.
More info about this panel Germany.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
Spain.
By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4
More info about this panel Spain.
Cardiomyopathies Panel Panel
Spain.
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panel Spain.
Hypertrophic Cardiomyopathy Extended Panel Panel
Spain.
By Health in Code Hypertrophic Cardiomyopathy Extended Panel that also includes the following genes: MRPL3 RYR2 SLC22A5 BRAF SLC25A4 SOS1 SURF1 TAZ TCAP KLF10
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Arrhythmia General Panel Panel
Spain.
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panel Spain.
Hypertrophic cardiomyopathy extended panel Panel
Spain.
By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ
More info about this panel Spain.
Cardiomyopathies General Panel Panel
Spain.
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panel Spain.
FAH Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the FAH gene.
More info about this panel Austria.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
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 Succinylacetone Test Panel
United States.
By Invitae
This panel specifically test the FAH gene.
More info about this panel United States.
Invitae Tyrosinemia Panel Panel
United States.
By Invitae Invitae Tyrosinemia Panel that also includes the following genes: TAT FAH HPD
More info about this panel United States.
Invitae Elevated Tyrosine Panel Panel
United States.
By Invitae Invitae Elevated Tyrosine Panel that also includes the following genes: TAT FAH HPD
More info about this panel United States.
Tyrosinemia type I: FAH gene Screening Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FAH gene.
More info about this panel Spain.
Tyrosinemia Type I: FAH Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the FAH gene.
More info about this panel United States.
Tyrosinemia Type I: FAH Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the FAH gene.
More info about this panel United States.
Neonatal and Adult Cholestasis: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UGT1A1 VPS33B ABCG5 ABCG8 NPC2
More info about this panel United States.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Inheritest NGS, Ashkenazi Jewish Ancestry Panel Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Ashkenazi Jewish Ancestry Panel that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR SUMF1 DHDDS
More info about this panel United States.
Tyrosinemia Type 1 (FAH) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the FAH gene.
More info about this panel United States.
Inheritest NGS, Comprehensive Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel United States.
FAH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FAH gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
Hypophosphatemic Rickets Panel Panel
Finland.
By Blueprint Genetics Hypophosphatemic Rickets Panel that also includes the following genes: SLC34A1 VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FAH FGF23
More info about this panel Finland.
Cholestasis Panel Panel
Finland.
By Blueprint Genetics Cholestasis Panel that also includes the following genes: SLC25A13 SMPD1 SPINT2 EPCAM TJP2 UGT1A1 VPS33B NEUROG3 LMF1 NPC2
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 Liver Failure Panel Panel
Finland.
By Blueprint Genetics Metabolic Liver Failure Panel that also includes the following genes: SMPD1 NPC2 FAH GALE GALK1 GALT ALDOB LIPA MPI NPC1
More info about this panel Finland.
Tyrosinemia Panel Panel
Finland.
By Blueprint Genetics Tyrosinemia Panel that also includes the following genes: TAT FAH HPD
More info about this panel Finland.
Tyrosinemia type 1 Panel
Spain.
By Bioarray
This panel specifically test the FAH gene.
More info about this panel Spain.
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.
Tyrosinemia NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Tyrosinemia NGS and Deletion/Duplication Panel that also includes the following genes: TAT FAH GSTZ1 HPD
More info about this panel United States.
FAH Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the FAH gene.
More info about this panel United States.
TYROSINEMIA Panel
Spain.
By Laboratorio de Genetica Clinica SL TYROSINEMIA that also includes the following genes: TAT FAH HPD
More info about this panel Spain.
Tyrosinemia Type 1, Frequent Mutations FAH Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FAH gene.
More info about this panel Spain.
Tyrosinemia , Panel Massive Sequencing (NGS) FAH, TAT, HPD Genes Panel
Spain.
By Reference Laboratory Genetics Tyrosinemia , Panel Massive Sequencing (NGS) FAH, TAT, HPD Genes that also includes the following genes: TAT FAH HPD
More info about this panel Spain.
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel
Spain.
By Reference Laboratory Genetics Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes that also includes the following genes: SLC34A1 SLC9A3R1 TJP2 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 FAM20C
More info about this panel Spain.
planTrue Extended Panel
United States.
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panel United States.
Tyrosinemia types 1, 2 and 3: gene sequencing panel (RAPID testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Tyrosinemia types 1, 2 and 3: gene sequencing panel (RAPID testing) that also includes the following genes: TAT FAH HPD
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.
Tyrosinemia, type I: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FAH gene.
More info about this panel Canada.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel Canada.
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