| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (35.3%) |
11965181 |
[Refsum's disease: evolution 35 years after diagnosis]. Marcaud V, Defontaines B, Jung P, Degos CF. Rev Neurol (Paris). 2002;158(2):225-9. |
| Facial paralysis | ||
| CSF2 | ||
| Adult Ataxia Cataract Diet Disease Progression Electromyography Females Follow-Up Studies Homo sapiens Mixed Function Oxygenases Paresthesia Phytanic Acid Refsum Disease Retinitis Pigmentosa | ||
| 2 (26.3%) |
6164893 |
[Refsum syndrome, heredopathia atactica polyneuritiformis in the view of the otolaryngologist (author's transl)]. Feldmann H. Laryngol Rhinol Otol (Stuttg). 1981;60(5):235-40. |
| Anosmia | ||
| Adult Cataract Cerebrospinal Fluid Proteins Females Hearing Loss, Bilateral Homo sapiens Olfaction Disorders Phytanic Acid Plasma Exchange Refsum Disease Tinnitus Vertigo | ||
| 2 (26.3%) |
71982 |
[Refsum's syndrome (author's transl)]. Thumler R, Atzpodien W, Kremer GJ, Haferkamp G. Dtsch Med Wochenschr. 1977;102(41):1454-7. |
| Anosmia | ||
| CSF2 | ||
| Eye Manifestations Homo sapiens Male Middle Aged Neurologic Manifestations Nyctalopia Phytanic Acid Refsum Disease Skin Manifestations | ||
| 4 (23.3%) |
10214507 |
A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy. Stoll C, Eyer D. Ann Genet. 1999;42(1):45-50. |
| Hypogonadism Scoliosis | ||
| Body Height Face Fluorescent in Situ Hybridization Growth Disorders Homo sapiens Hypogonadism Ichthyoses Male Retinitis Pigmentosa Syndrome | ||
| 5 (21.2%) |
10424146 |
[A case of motor and sensory polyneuropathy with retinitis pigmentosa and diffuse idiopathic skeletal hyperostosis]. Osoegawa M, Araki E, Arakawa K, Okayama A, Yamada T, Ohnishi A, Kira J. Rinsho Shinkeigaku. 1999;39(5):542-5. |
| Visual impairment Hyperostosis | ||
| Complications of Diabetes Mellitus Hereditary Motor and Sensory Neuropathies Homo sapiens Hyperostosis, Diffuse Idiopathic Skeletal Male Metabolic Diseases Middle Aged Retinitis Pigmentosa | ||
| 5 (21.2%) |
9735628 |
Refsum's disease. A unique case. Jaffe DF, Crezee KS, Mason S, Leavens-Chiarelli T, Lawrence W. J Am Podiatr Med Assoc. 1998;88(8):406-9. |
| Blindness Hyperostosis | ||
| Fatal Outcome Foot Homo sapiens Male Refsum Disease | ||
| 7 (4.0%) |
25372210 |
Infantile Refsum disease in a young adult: case presentation and brief review. Pakzad-Vaezi KL, Maberley DA. Retin Cases Brief Rep. 2014;8(1):56-9. |
| Cataract | ||
| Adult Differential Diagnosis Females Homo sapiens Phytanic Acid Refsum Disease Retrospective Studies Vision Disorders | ||
| 7 (4.0%) |
22156782 |
A child with night blindness: preventing serious symptoms of Refsum disease. Kohlschutter A, Santer R, Lukacs Z, Altenburg C, Kemper MJ, Ruther K. J Child Neurol. 2012;27(5):654-6. |
| Retinopathy | ||
| Females Homo sapiens Longitudinal Studies Low-Density Lipoproteins Mixed Function Oxygenases Mutation Nyctalopia Phytanic Acid Refsum Disease | ||
| 7 (4.0%) |
18612766 |
Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition. Finsterer J, Regelsberger G, Voigtlander T. Neurol Sci. 2008;29(3):173-5. |
| Hyperhidrosis | ||
| PHYH SON | ||
| c|SUB|A|135-2|G;RS#:201578674 | ||
| Adult Amino Acid Substitution Base Sequence Biological Markers Blindness Chromosomes, Human, Pair 10 DNA Mutational Analysis Females Genetic Markers Genetic Predisposition to Disease Genotype Heterozygote Homo sapiens Male Middle Aged Mixed Function Oxygenases Mutation Phytanic Acid Refsum Disease Restless Legs Syndrome | ||
| 7 (4.0%) |
18336720 (2275283) |
Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa -- the footprint is the clue: a case report. Jayaram H, Downes SM. J Med Case Rep. 2008;2:80. |
| Visual impairment | ||
Total: 38
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000407 | Sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0000458 | Anosmia | Very frequent (99-80%) |
| HP:0000478 | Abnormality of the eye | Very frequent (99-80%) |
| HP:0000488 | Retinopathy | Very frequent (99-80%) |
| HP:0000504 | Abnormality of vision | Very frequent (99-80%) |
| HP:0000518 | Cataract | Very frequent (99-80%) |
| HP:0000958 | Dry skin | Very frequent (99-80%) |
| HP:0001251 | Ataxia | Very frequent (99-80%) |
| HP:0001638 | Cardiomyopathy | Very frequent (99-80%) |
| HP:0001760 | Abnormality of the foot | Very frequent (99-80%) |
| HP:0001939 | Abnormality of metabolism/homeostasis | Very frequent (99-80%) |
| HP:0002164 | Nail dysplasia | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0004374 | Hemiplegia/hemiparesis | Very frequent (99-80%) |
| HP:0007256 | Abnormal pyramidal sign | Very frequent (99-80%) |
| HP:0007703 | Abnormality of retinal pigmentation | Very frequent (99-80%) |
| HP:0008064 | Ichthyosis | Very frequent (99-80%) |
| HP:0009830 | Peripheral neuropathy | Very frequent (99-80%) |
| HP:0000496 | Abnormality of eye movement | Frequent (79-30%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000616 | Miosis | Frequent (79-30%) |
| HP:0000662 | Nyctalopia | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001744 | Splenomegaly | Frequent (79-30%) |
| HP:0001765 | Hammertoe | Frequent (79-30%) |
| HP:0002376 | Developmental regression | Frequent (79-30%) |
| HP:0003202 | Skeletal muscle atrophy | Frequent (79-30%) |
| HP:0005930 | Abnormality of epiphysis morphology | Frequent (79-30%) |
| HP:0010049 | Short metacarpal | Frequent (79-30%) |
| HP:0010864 | Intellectual disability, severe | Frequent (79-30%) |
| HP:0000083 | Renal insufficiency | Occasional (29-5%) |
| HP:0000529 | Progressive visual loss | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0001761 | Pes cavus | Occasional (29-5%) |
| HP:0002093 | Respiratory insufficiency | Occasional (29-5%) |
| HP:0012722 | Heart block | Occasional (29-5%) |
Total: 13
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000618 | Blindness | 2 |
| HP:0001251 | Ataxia | 2 |
| HP:0000458 | Anosmia | 1 |
| HP:0000546 | Retinal degeneration | 1 |
| HP:0000580 | Pigmentary retinopathy | 1 |
| HP:0001271 | Polyneuropathy | 1 |
| HP:0003077 | Hyperlipidemia | 1 |
| HP:0005575 | Hemolytic-uremic syndrome | 1 |
| HP:0012072 | Aciduria | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0031047 | Paraproteinemia | 1 |
| HP:0032118 | Retinitis | 1 |
| HP:0032368 | Acidemia | 1 |