Details of Disease

General Information of Disease (ID: DISU2BLL)

• Disease Name: Adult Refsum disease
• Synonyms: DOC 11 (phytanic acid type); Refsum disease with increased pipecolic acidemia; RDPA; disorder of cornification 11 (phytanic acid type); Refsum disease, classic; phytanic-CoA hydroxylase deficiency; adult Refsum disease; Refsum disease; Refsum Disease; hereditary motor and sensory neuropathy type 4; hypertrophic neuropathy of Refsum; Refsum's disease; heredopathia atactica polyneuritiformis; classic Refsum disease; HMSN type IV; HMSN 4; hereditary sensory and motor neuropathy type 4; phytanic acid oxidase deficiency; HSMN IV; hereditary motor and sensory neuropathy 4; Refsum disease, adult, 1; adult Refsum disease due to PHYH
• Definition: 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.|Curator note: do not confuse with Infantial Refsum, see https://omim.org/entry/266500
• Disease Hierarchy:
  DISDT292: Phytanoyl-CoA hydroxylase deficiency
  DISU2BLL: Adult Refsum disease
• Disease Identifiers:
  MONDO ID: MONDO_0009958
  MESH ID: D012035
  UMLS CUI: C0034960
  OMIM ID: 266500
  MedGen ID: 11161
  Orphanet ID: 773
  SNOMED CT ID: 25362006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSD17B4	TTL1WGS	Strong	Biomarker	[1]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PEX7	OTM7VBRC	Supportive	Autosomal recessive	[2]
PHYHIP	OTPC9JBM	Strong	Biomarker	[3]
SCP2	OTPAFCPQ	Strong	Biomarker	[4]
PHYH	OTUG4BWA	Definitive	Autosomal recessive	[5]

References

• [1] Peroxisomal disorders.Handb Clin Neurol. 2013;113:1593-609. doi: 10.1016/B978-0-444-59565-2.00028-9.
• [2] Adult Refsum Disease. 2006 Mar 20 [updated 2021 Sep 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
• [3] Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase.Brain Res Mol Brain Res. 2000 Feb 22;75(2):237-47. doi: 10.1016/s0169-328x(99)00304-6.
• [4] Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.J Neurochem. 2002 Mar;80(5):727-35. doi: 10.1046/j.0022-3042.2002.00766.x.
• [5] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.