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.

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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

SOURCES: ORPHANET OMIM

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


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

PAH Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the PAH gene.

More info about this panel

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

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

PAH Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the PAH gene.

More info about this panel

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

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

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

Phenylketonuria Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the PAH gene.

More info about this panel

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

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

PAH Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the PAH gene.

More info about this panel

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

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

Phenylketonuria (deletion/duplication analysis of PAH gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PAH gene.

More info about this panel

Phenylketonuria (deletion/duplication analysis of PAH gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PAH gene.

More info about this panel

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

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

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

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

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

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

Phenylketonuria Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PAH gene.

More info about this panel

Phenylketonuria Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the PAH gene.

More info about this panel

Single gene testing PAH Panel

Germany.

By CeGaT GmbH

This panel specifically test the PAH gene.

More info about this panel

Phenylketonuria Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center

This panel specifically test the PAH gene.

More info about this panel

Phenylalanine Hydroxylase Deficiency Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the PAH gene.

More info about this panel

PAH Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the PAH gene.

More info about this panel

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

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 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

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 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

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

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

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

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

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

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

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

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

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

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

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

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

PAH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PAH gene.

More info about this panel

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

PHENYLKETON Panel

Hungary.

By PentaCoreLab

This panel specifically test the PAH gene.

More info about this panel

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

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

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

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

Phenylketonuria Panel

Spain.

By Bioarray

This panel specifically test the PAH gene.

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

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

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

PHENYLKETONURIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PAH gene.

More info about this panel

Classical Phenylketonuria , Sequencing PAH Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PAH gene.

More info about this panel

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

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

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

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

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

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

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

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

Phenylketonuria Panel

Hungary.

By Genomic Laboratory Semmelweis University

This panel specifically test the PAH gene.

More info about this panel


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