ORPHA:773
Adult Refsum disease
Synonyms: Classic Refsum disease · HMSN 4 · HMSN IV · Hereditary motor and sensory neuropathy type 4 · Hereditary motor and sensory neuropathy type IV · Heredopathia atactica polyneuritiformis · Phytanic-CoA hydroxylase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa and possible neurological manifestations, including peripheral neuropathy and cerebellar ataxia. Other features can be deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult Refsum disease | Classic Refsum disease · HMSN 4 · HMSN IV · Hereditary motor and sensory neuropathy type 4 · Hereditary motor and sensory neuropathy type IV · Heredopathia atactica polyneuritiformis · Phytanic-CoA hydroxylase deficiency |
| fr | Maladie de Refsum de l'adulte | Déficit en phytanoyl-CoA dioxygénase · Hérédopathie ataxique polynévritique · Maladie de Refsum classique · Neuropathie sensitivo-motrice héréditaire type 4 · Neuropathie sensitivo-motrice héréditaire type IV |
| de | Refsum-Krankheit | Adulte Refsum-Krankheit · HMSN 4 · HMSN IV · Heredopathia atactica polyneuritiformis · Klassische Refsum-Krankheit · Neuropathie, hereditäre motorisch-sensorische, Typ 4 · Neuropathie, hereditäre motorisch-sensorische, Typ IV · Phytanoyl-CoA-Hydroxylase-Mangel · Refsum-Syndrom |
| es | Enfermedad de Refsum del adulto | Deficiencia de fitanoil-CoA hidroxilasa · Enfermedad de Refsum clásica · HMSN 4 · HMSN IV · Heredopatía atáctica polineuritiforme · Neuropatía hereditaria sensitivo-motora tipo 4 · Neuropatía hereditaria sensitivo-motora tipo IV |
| it | Malattia di Refsum dell'adulto | HMSN IV · Eredopatia atattica polineuritiforme · HMSN 4 · Deficit di fitanil-CoA idrossilasi · Malattia di Refsum classica · Neuropatia motoria e sensoriale ereditaria di tipo 4 · Neuropatia motoria e sensoriale ereditaria di tipo IV |
| nl | Volwassen vorm van ziekte van Refsum | HMSN IV · Hereditaire motorische en sensorische neuropathie type 4 · Hereditaire motorische en sensorische neuropathie type IV · Heredopathia atactica polyneuritiformis · Deficiëntie van fytanoyl-CoA-hydroxylase · Ziekte van Refsum, klassieke vorm · Ziekte van Refsum, volwassen vorm · Klassieke ziekte van Refsum · HMSN 4 |
| pt | Doença de Refsum | Deficiência de oxidase do ácido fitânico · Heredopatia atáxica polineuritiforme · Neuropatia motora e sensitiva hereditária tipo 4 |
| pl | Choroba Refsuma | Dziedziczna neuropatia ruchowa i czuciowa typu 4 · Heredopathia atactica polyneuritiformis · HMSN 4 · Niedobór oksydazy kwasu fitanowego |
| cs | Refsumova nemoc | Refsumova choroba, adultní forma · Klasická Refsumova choroba · HMSN 4 · Hereditární motorická a senzitivní neuropatie, typ IV · Heredopathia atactica polyneuritiformis · Deficit fytan-CoA hydroxylázy |
| uk | Хвороба Рефсума | Хвороба Рефсума у дорослих · Класична хвороба Рефсума · Спадкова моторна та сенсорна нейропатія типу 4 · Спадкова моторна та сенсорна нейропатія IV типу · Heredopathia atactica polyneuritiformis · HMSN 4 · HMSN IV · Дефіцит фітан-КоА-гідроксилази |
| zh | Refsum病 | 遗传性运动和感觉神经病IV型 |
| tr | Refsum hastalığı | HMSN 4 · HMSN IV · Erişkin Refsum hastalığı · Klasik Refsum hastalığı · Fitanik-KoA hidroksilaz eksikliği · Heredopati ataktika polinüritiformis · Kalıtsal motor ve duyusal nöropati tip 4 · Kalıtsal motor ve duyusal nöropati tip IV |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 266500 | E | validated | |
| OMIM | 614879 | BTNT | validated | |
| ICD-10 | G60.1 | E | specific | validated |
| ICD-11 | 5C57.1 | NTBT | index | validated |
| MONDO | 0009958 | E | validated | |
| MONDO | 9958 | E | validated | |
| MeSH | D012035 | E | validated | |
| UMLS | C0034960 | E | validated | |
| GARD | 5691 | E | validated | |
| MedDRA | 10038275 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (11):
- ORPHA:281238Autosomal ichthyosis syndrome with prominent neurologic signs
rare genetic diseases; rare skin diseases - ORPHA:98096Autosomal recessive metabolic cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:309810Disorder of peroxisomal alpha-, beta- and omega-oxidation
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:522568Rare genetic disorder of the pupil
rare genetic diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PEX7 | Disease-causing germline mutation(s) in | Assessed | HGNC:8860 | ENSG00000112357 | 601757 | 6q23.3 | peroxisomal biogenesis factor 7 | 20301527[PMID] |
| PHYH | Disease-causing germline mutation(s) in | Assessed | HGNC:8940 | ENSG00000107537 | 602026 | 10p13 | phytanoyl-CoA 2-hydroxylase | 20301527[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | 20301527[PMID]_[EXPERT] |
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | ISBN 13:9789350901885[OTHER]_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
38 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0000458 | Anosmia | |
| HP:0001251 | Ataxia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000518 | Cataract | |
| HP:0000958 | Dry skin | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0008064 | Ichthyosis | |
| HP:0002164 | Nail dysplasia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000488 | Retinopathy | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0002376 | Developmental regression | |
| HP:0001765 | Hammertoe | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000616 | Miosis | |
| HP:0000662 | Nyctalopia | |
| HP:0000508 | Ptosis | |
| HP:0010049 | Short metacarpal | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001744 | Splenomegaly | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0012722 | Heart block | |
| HP:0000568 | Microphthalmia | |
| HP:0000639 | Nystagmus | |
| HP:0001761 | Pes cavus | |
| HP:0000529 | Progressive visual loss | |
| HP:0000083 | Renal insufficiency | |
| HP:0002093 | Respiratory insufficiency | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/773
- This record as JSON: /data/d/773.json