PAH gene related symptoms and diseases
All the information presented here about the PAH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PAH gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Uncommon - Between 30% and 50% cases |
| Behavioral abnormality | Uncommon - Between 30% and 50% cases |
| Cerebral calcification | Uncommon - Between 30% and 50% cases |
| Global developmental delay | Uncommon - Between 30% and 50% cases |
| Attention deficit hyperactivity disorder | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PAH gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hyperphenylalaninemia
- Autism
- Depressivity
- Hypertonia
- Tremor
- Hyperreflexia
- Cataract
- Growth delay
And 63 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PAH gene
Here you will find a list of rare diseases related to the PAH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CLASSIC PHENYLKETONURIA
Alternate names
CLASSIC PHENYLKETONURIA Is also known as classic pku
Description
Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.
Most common symptoms of CLASSIC PHENYLKETONURIA
- Seizures
- Global developmental delay
- Microcephaly
- Growth delay
- Cataract
More info about CLASSIC PHENYLKETONURIA
SOURCES: ORPHANET
MATERNAL PHENYLKETONURIA
Alternate names
MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency, phenylketonuric embryopathy, maternal pku, pah deficiency, folling disease, maternal hyperphenylalaninemia, hyperphenylalaninemic embryopathy, oligophrenia phenylpyruvica
Description
Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.
Most common symptoms of MATERNAL PHENYLKETONURIA
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Growth delay
More info about MATERNAL PHENYLKETONURIA
MILD PHENYLKETONURIA
Alternate names
MILD PHENYLKETONURIA Is also known as mpku, variant pku, variant phenylketonuria, mild pku
Description
Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.
More info about MILD PHENYLKETONURIA
SOURCES: ORPHANET
TETRAHYDROBIOPTERIN-RESPONSIVE HYPERPHENYLALANINEMIA/PHENYLKETONURIA
Alternate names
TETRAHYDROBIOPTERIN-RESPONSIVE HYPERPHENYLALANINEMIA/PHENYLKETONURIA Is also known as bh4-responsive hpa/pku, tetrahydrobiopterin-responsive hpa/pku, bh4-responsive hyperphenylalaninemia/phenylketonuria
Description
Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.
More info about TETRAHYDROBIOPTERIN-RESPONSIVE HYPERPHENYLALANINEMIA/PHENYLKETONURIA
SOURCES: ORPHANET
MILD HYPERPHENYLALANINEMIA
Alternate names
MILD HYPERPHENYLALANINEMIA Is also known as non-pku hpa, mhpa, mild hpa
Description
Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.
More info about MILD HYPERPHENYLALANINEMIA
SOURCES: ORPHANET
Search interest in PAH
Potential gene panels for PAH 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.
PAH Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PAH gene.
More info about this panel United States.
PAH Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PAH gene.
More info about this panel United States.
PAH Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PAH gene.
More info about this panel United States.
PAH Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PAH 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.
Phenylketonuria Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the PAH gene.
More info about this panel United States.
Phenylketonuria Panel
United States.
By Center for Human Genetics, Inc
This panel specifically test the PAH gene.
More info about this panel United States.
PAH sequencing Panel
United States.
By University of Minnesota Physicians Outreach Laboratory University of Minnesota
This panel specifically test the PAH gene.
More info about this panel United States.
Phenylalanine Hydroxylase Deficiency Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
This panel specifically test the PAH gene.
More info about this panel Denmark.
PAH Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the PAH gene.
More info about this panel United States.
PAH. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PAH gene.
More info about this panel Spain.
Phenylalanine Hydroxylase Deficiency (sequence analysis of PAH gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PAH gene.
More info about this panel Portugal.
Phenylketonuria (deletion/duplication analysis of PAH gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PAH gene.
More info about this panel Portugal.
Phenylketonuria (deletion/duplication analysis of PAH gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PAH gene.
More info about this panel Portugal.
Phenylalanine Hydroxylase Deficiency via PAH Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PAH gene.
More info about this panel United States.
Hyperphenylalaninemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hyperphenylalaninemia Sequencing Panel with CNV Detection that also includes the following genes: DNAJC12 GCH1 PAH PCBD1 PTS QDPR
More info about this panel United States.
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panel United States.
Phenylketonuria Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München
This panel specifically test the PAH gene.
More info about this panel Germany.
Phenylketonuria/ Hyperphenylalaninemia, non-PKU mild (PAH) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the PAH gene.
More info about this panel Netherlands.
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.
Phenylketonuria Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PAH gene.
More info about this panel Germany.
Phenylketonuria Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the PAH gene.
More info about this panel Germany.
Single gene testing PAH Panel
Germany.
By CeGaT GmbH
This panel specifically test the PAH gene.
More info about this panel Germany.
Phenylketonuria Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the PAH gene.
More info about this panel Poland.
Phenylalanine Hydroxylase Deficiency Panel
Netherlands.
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the PAH gene.
More info about this panel Netherlands.
PAH Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the PAH 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 Elevated Phenylalanine Panel Panel
United States.
By Invitae Invitae Elevated Phenylalanine Panel that also includes the following genes: SPR GCH1 PAH PCBD1 PTS QDPR
More info about this panel United States.
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 Hyperphenylalaninemia Panel Panel
United States.
By Invitae Invitae Hyperphenylalaninemia Panel that also includes the following genes: SPR GCH1 PAH PCBD1 PTS QDPR
More info about this panel United States.
Invitae Treatable Neurometabolic Disorders Panel Panel
United States.
By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel United States.
Phenylketonuria: PAH gene sequence analysis (exons 7-8, 11-12) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PAH gene.
More info about this panel Spain.
Phenylketonuria: PAH gene sequence analysis (remaining exons) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PAH gene.
More info about this panel Spain.
Phenylketonuria: PAH gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PAH gene.
More info about this panel Spain.
Phenylketonuria (PKU): Phenylalanine Hydroxylase (PAH) Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PAH gene.
More info about this panel United States.
Phenylketonuria (PKU): Phenylalanine Hydroxylase (PAH) Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PAH gene.
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.
Phenylketonuria (PKU): Phenylalanine Hydroxylase (PAH) Full Gene Sequencing Panel
Brazil.
By DLE - Diagnosticos Laboratoriais Especializados
This panel specifically test the PAH gene.
More info about this panel Brazil.
Phenylalanine Hydroxylase Deficiency, includes Phenylketonuria (PAH) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the PAH 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.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
PAH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PAH gene.
More info about this panel United States.
Phenylketonuria (PKU) Mutation Analysis Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the PAH gene.
More info about this panel United States.
PHENYLKETON Panel
Hungary.
By PentaCoreLab
This panel specifically test the PAH gene.
More info about this panel Hungary.
Phenylketonuria (PKU) Panel
United States.
By Pro Genetic Laboratory/ (DBA) University Childrens' Genetics Laboratory
This panel specifically test the PAH gene.
More info about this panel United States.
Spastic Paraplegia Panel Panel
Finland.
By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR
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.
Hyperphenylalaninemia Panel Panel
Finland.
By Blueprint Genetics Hyperphenylalaninemia Panel that also includes the following genes: GCH1 PAH PCBD1 PTS QDPR
More info about this panel Finland.
Phenylketonuria Panel
Spain.
By Bioarray
This panel specifically test the PAH 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.
PAH 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 PAH gene.
More info about this panel United States.
Phenylketonuria (PAH) Targeted Testing Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the PAH gene.
More info about this panel United States.
PHENYLKETONURIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the PAH gene.
More info about this panel Spain.
Classical Phenylketonuria , Sequencing PAH Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PAH gene.
More info about this panel Spain.
Classical Phenylketonuria , Sequencing Rest Exons PAH Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PAH gene.
More info about this panel Spain.
Classical Phenylketonuria , Sequencing Exons (7,8,11,12) PAH Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PAH gene.
More info about this panel Spain.
Classical Phenylketonuria , Deletions-Duplications (MLPA) PAH Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PAH gene.
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.
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.
Phenylketonuria: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the PAH 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.
Non-PKU hyperphenylalanemia: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the PAH gene.
More info about this panel Canada.
Phenylketonuria Panel
Hungary.
By Genomic Laboratory Semmelweis University
This panel specifically test the PAH gene.
More info about this panel Hungary.
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