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Refsum disease

2 OMIM references -
2 associated genes
38 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1

Rhizomelic chondrodysplasia punctata type 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Refsum disease

Rhizomelic chondrodysplasia punctata type 1

PEX7	(UniProt - OMIM)		PEX7	(UniProt - OMIM)
PHYH	(UniProt - OMIM)


COMMON GENES	PEX7


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PHYH	(0.73)	PEX7

Citations in the biomedical literature:

Refsum disease		Rhizomelic chondrodysplasia punctata type 1
	Synonym(s): - HMSN 4 - Hereditary motor and sensory neuropathy type 4 - Heredopathia atactica polyneuritiformis - Phytanic acid oxidase deficiency		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 2 OMIM references - 1 MeSH reference: D012035		External references: 1 OMIM reference - No MeSH references

Refsum disease
	Very frequent - Anomalies of ear and hearing - Anomalies of eyes and vision - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Ataxia / incoordination / trouble of the equilibrium - Cardiomyopathy / hypertrophic / dilated - Cataract / lens opacification - Dry / squaly skin / exfoliation - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Foot anomalies - Hemiplegia / diplegia / hemiparesia / limb palsy - Ichthyosis / ichthyosiform dermatitis - Metabolic anomalies - Peripheral neuropathy - Pyramidal syndrome - Retinitis pigmentosa / retinal pigmentary changes - Retinopathy - Sensorineural deafness / hearing loss - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Abnormal eye movements / oculomotor disorder - Claw toes / retracted toes - Epiphyseal anomaly - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Metacarpal anomalies / Archibald's sign - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Psychic / psychomotor regression / dementia / intellectual decline - Ptosis - Pupillary anomalies / mydriasis / myosis / tonic pupil - Splenomegaly - Storage liver disease Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Autosomal recessive inheritance - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Nystagmus - Pes cavus - Renal failure - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Visual loss / blindness / amblyopia
Rhizomelic chondrodysplasia punctata type 1
(no data available)