Refsum Disease, Classic

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Refsum Disease, Classic

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract
  • Ptosis
  • Delayed speech and language development
  • Peripheral neuropathy

And another 32 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative 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.

Researches and researchers

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Refsum Disease, Classic Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
34 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
34 %
Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
34 %
Dilated Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, ACTC1, LDB3, ANKRD1, ACTN2, NEBL, TXNRD2, PDLIM3, MYPN , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
34 %
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
34 %
Pan Cardiomyopathy Panel (62 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, JPH2, ACTC1, CASQ2, CAV3, LDB3 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
34 %
Comprehensive Cardiomyopathy Panel.

By GeneDx (United States).

RYR2, SCN5A, SGCD, BRAF, SOS1, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, JPH2, ACTC1, CAV3, LDB3 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
34 %
CardioNext with TTN.

By Ambry Genetics (United States).

RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SNTA1, TAZ, TBX1, TBX20, TBX5, TCAP, TGFB3, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
34 %

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Sources and references

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