PHYH gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to PHYH gene

Symptoms // Phenotype % Cases
Ataxia Very Common - Between 80% and 100% cases
Nystagmus Very Common - Between 80% and 100% cases
Ichthyosis Very Common - Between 80% and 100% cases
Pes cavus Very Common - Between 80% and 100% cases
Anosmia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Cardiomyopathy
  • Nyctalopia
  • Peripheral neuropathy
  • Ptosis
  • Cataract
  • Miosis
  • Sensorineural hearing impairment
  • Not very common - Between 30% and 50% cases

  • Blindness

And 55 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PHYH gene

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


REFSUM DISEASE


Alternate names

REFSUM DISEASE Is also known as hmsn 4, phytanic-coa hydroxylase deficiency, heredopathia atactica polyneuritiformis, classic refsum disease, hereditary motor and sensory neuropathy type 4, adult refsum disease

Description

Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

Most common symptoms of REFSUM DISEASE

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract


More info about REFSUM DISEASE

SOURCES: ORPHANET

REFSUM DISEASE, CLASSIC


Alternate names

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis, hmsn iv, phytanic acid oxidase deficiency, hereditary motor and sensory neuropathy iv, hmsn4, refsum disease, adult, 1

Description

Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

Most common symptoms of REFSUM DISEASE, CLASSIC

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


More info about REFSUM DISEASE, CLASSIC

SOURCES: OMIM


Potential gene panels for PHYH 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

Lysosomal Storage Disease Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1

More info about this panel

Refsum Disease NGS Panel Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Refsum Disease NGS Panel that also includes the following genes: PEX7 PHYH

More info about this panel

Peroxisomal Disorders Comprehensive NGS Panel Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Peroxisomal Disorders Comprehensive NGS Panel that also includes the following genes: SCP2 ACOX1 CAT PEX26 DNM1L AGPS AGXT GNPAT AMACR HSD17B4

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

PHYH Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the PHYH gene.

More info about this panel

Peroxisomal Disorders Sequencing Panel Panel

Czech Republic.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Peroxisomal Disorders Sequencing Panel that also includes the following genes: SCP2 ACOX1 CAT GDAP1 PEX26 MFF FAR1 DNM1L PEX5L AGPS

More info about this panel

Peroxisomal disorders Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Peroxisomal disorders that also includes the following genes: SCP2 ACOX1 PEX26 DNM1L AGPS AGXT GNPAT AMACR HSD17B4 ABCD1

More info about this panel

Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel

Portugal.

By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK

More info about this panel

Refsum disease (sequence analysis of PHYH gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PHYH gene.

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

PHYH-Related Refsum Disease Panel

Netherlands.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center PHYH-Related Refsum Disease that also includes the following genes: PEX7 PHYH

More info about this panel

PEX7-Related Refsum Disease Panel

Netherlands.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center PEX7-Related Refsum Disease that also includes the following genes: PEX7 PHYH

More info about this panel

Refsum Disease Panel

Netherlands.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center Refsum Disease that also includes the following genes: PEX7 PHYH

More info about this panel

Refsum Disease via PHYH Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PHYH gene.

More info about this panel

Peroxisomal Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Peroxisomal Disorders Sequencing Panel with CNV Detection that also includes the following genes: ACOX1 PEX26 DNM1L AGPS GNPAT HSD17B4 ABCD1 ABCD3 PEX1 PEX10

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

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Refsum disease panel Panel

Germany.

By Centogene AG - the Rare Disease Company Refsum disease panel that also includes the following genes: PEX26 PEX1 PEX7 PHYH PEX2

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

Refsum disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PHYH gene.

More info about this panel

Ichthyoses and related disorders of cornification Panel Panel

Germany.

By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10

More info about this panel

Refsum Disease Panel Panel

Germany.

By CeGaT GmbH Refsum Disease Panel that also includes the following genes: PEX26 PEX1 PEX3 PEX7 PHYH PEX2 PEX5

More info about this panel

Single gene testing PHYH Panel

Germany.

By CeGaT GmbH

This panel specifically test the PHYH gene.

More info about this panel

Zellweger Spectrum Disorders Panel

Estonia.

By Asper Biogene Asper Biogene LLC Zellweger Spectrum Disorders that also includes the following genes: PEX26 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX3 PEX6 PEX7

More info about this panel

Spinocerebellar Ataxia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Spinocerebellar Ataxia that also includes the following genes: SACS SLC9A1 SLC9A6 SPTBN2 STUB1 TWNK ACO2 TTPA WFS1 WWOX

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Refsum disease Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PHYH gene.

More info about this panel

Refsum disease Panel

Slovakia.

By MedGene

This panel specifically test the PHYH gene.

More info about this panel

Invitae Adult Refsum Disease Panel Panel

United States.

By Invitae Invitae Adult Refsum Disease Panel that also includes the following genes: PEX7 PHYH

More info about this panel

Leukodistrophy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leukodistrophy that also includes the following genes: SCP2 AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1

More info about this panel

Peroxisomal disorders Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Peroxisomal disorders that also includes the following genes: SCP2 ACOX1 ABHD12 PEX26 DNM1L AGPS GNPAT HSD17B4 ABCD1 ABCD3

More info about this panel

Eye Disorders: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Hereditary Neuropathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel

Eye Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Hereditary Neuropathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel

Eye Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel

Lysosomal Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2

More info about this panel

Peroxisomal NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Peroxisomal NGS Panel that also includes the following genes: ACOX1 PEX26 DNM1L AGPS HSD17B4 ABCD1 ABCD3 PEX1 PEX10 PEX11B

More info about this panel

Retinitis Pigmentosa NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Retinitis Pigmentosa NGS Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

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

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PHYH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PHYH gene.

More info about this panel

Ichthyosis Panel Panel

Finland.

By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1

More info about this panel

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel

Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Finland.

By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2

More info about this panel

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel

Retinitis Pigmentosa Panel Panel

Finland.

By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27

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

Peroxisomal Disorders Panel Panel

Finland.

By Blueprint Genetics Peroxisomal Disorders Panel that also includes the following genes: ACOX1 SUGCT DYM PEX26 EBP AGPS AGXT GNPAT AMACR HSD17B4

More info about this panel

REFSUM DISEASE Panel

Spain.

By Laboratorio de Genetica Clinica SL REFSUM DISEASE that also includes the following genes: PEX7 PHYH

More info about this panel

Refsum Disease , Sequencing PHYH Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PHYH gene.

More info about this panel

Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes Panel

Spain.

By Reference Laboratory Genetics Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes that also includes the following genes: AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1 GJC2

More info about this panel

Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SLC12A6 YARS PRX GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4

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Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes that also includes the following genes: SLC27A4 SNAP29 ST14 STS TGM1 TGM5 ALOXE3 ABCA12 SPINK5 MPLKIP

More info about this panel

Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel

Spain.

By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5

More info about this panel

Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel

Spain.

By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1

More info about this panel

Refsum Disease , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Refsum Disease , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: PEX26 PEX1 PHYH PEX2

More info about this panel

Refsum Disease: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Refsum Disease: gene sequencing panel that also includes the following genes: PEX7 PHYH

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