Infantile Refsum disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
IRD |
| Number of Symptoms | 25 |
| OrphanetNr: | 772 |
| OMIM Id: |
202370
266510 601539 614863 614867 614871 614873 614877 614885 614920 |
| ICD-10: |
G60.1 |
| UMLs: |
C0282527 |
| MeSH: |
D052919 |
| MedDRA: |
|
| Snomed: |
238062008 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive metabolic cerebellar ataxia
-Rare eye disease -Rare genetic disease -Rare neurologic disease Developmental anomaly of metabolic origin -Rare developmental defect during embryogenesis -Rare genetic disease Metabolic disease with pigmentary retinitis -Rare eye disease -Rare genetic disease Peroxisomal disease with epilepsy -Rare neurologic disease Peroxisome biogenesis disorder-Zellweger syndrome spectrum -Rare genetic disease -Rare hepatic disease -Rare neurologic disease Unclassified primitive or secondary maculopathy -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000271) | Abnormality of the face | Occasional [Orphanet] | 108 / 7739 | |||
|
|
(HPO:0010628) | Facial palsy | Occasional [Orphanet] | 146 / 7739 | |||
|
|
(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
|
|
(HPO:0000639) | Nystagmus | Frequent [Orphanet] | 555 / 7739 | |||
|
|
(HPO:0000505) | Visual impairment | Very frequent [Orphanet] | 297 / 7739 | |||
|
|
(HPO:0000518) | Cataract | Occasional [Orphanet] | 454 / 7739 | |||
|
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(HPO:0000504) | Abnormality of vision | Very frequent [Orphanet] | 22 / 7739 | |||
|
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(HPO:0000407) | Sensorineural hearing impairment | Frequent [Orphanet] | 524 / 7739 | |||
|
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(HPO:0000365) | Hearing impairment | Frequent [Orphanet] | 539 / 7739 | |||
|
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(HPO:0002066) | Gait ataxia | Frequent [Orphanet] | 327 / 7739 | |||
|
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(HPO:0000708) | Behavioral abnormality | Frequent [Orphanet] | 212 / 7739 | |||
|
|
(HPO:0001276) | Hypertonia | Frequent [Orphanet] | 317 / 7739 | |||
|
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
|
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(HPO:0005930) | Abnormality of epiphysis morphology | Occasional [Orphanet] | 119 / 7739 | |||
|
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(HPO:0002240) | Hepatomegaly | Very frequent [Orphanet] | 467 / 7739 | |||
|
|
(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0008064) | Ichthyosis | Occasional [Orphanet] | 108 / 7739 | |||
|
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(HPO:0011675) | Arrhythmia | Occasional [Orphanet] | 226 / 7739 | |||
|
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(HPO:0001638) | Cardiomyopathy | Occasional [Orphanet] | 192 / 7739 | |||
|
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(HPO:0001939) | Abnormality of metabolism/homeostasis | Very frequent [Orphanet] | 328 / 7739 | |||
|
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
|
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(HPO:0003202) | Skeletal muscle atrophy | Very frequent [Orphanet] | 281 / 7739 | |||
|
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
|
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(HPO:0012795) | Abnormality of the optic disc | Occasional [Orphanet] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|