Erythrokeratodermia - ataxia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ERYTHROKERATODERMIA WITH ATAXIA SCA34 |
| Number of Symptoms | 28 |
| OrphanetNr: | 1955 |
| OMIM Id: |
133190
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| ICD-10: |
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| UMLs: |
C1851481 C2930921 |
| MeSH: |
C535514 C535738 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 25 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant cerebellar ataxia type 1
-Rare eye disease -Rare genetic disease -Rare neurologic disease Erythrokeratoderma -Rare skin disease Genetic erythrokeratoderma -Rare genetic disease |
Symptom Information:
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(HPO:0011331) | Hemifacial atrophy | Occasional [Orphanet] | 79 / 7739 | |||
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(HPO:0000639) | Nystagmus | Very frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0000486) | Strabismus | Occasional [Orphanet] | 576 / 7739 | |||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0001288) | Gait disturbance | Very frequent [Orphanet] | 318 / 7739 | |||
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(HPO:0001315) | Reduced tendon reflexes | Very frequent [Orphanet] | 160 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0002075) | Dysdiadochokinesis | 40 / 7739 | ||||
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(HPO:0100022) | Abnormality of movement | Frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0001265) | Hyporeflexia | 208 / 7739 | ||||
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(HPO:0002380) | Fasciculations | rare [HPO:skoehler] | 42 / 7739 | |||
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(HPO:0002080) | Intention tremor | rare [HPO:skoehler] | 44 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | 216 / 7739 | ||||
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(HPO:0000958) | Dry skin | Very frequent [Orphanet] | 152 / 7739 | |||
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(HPO:0001025) | Urticaria | Very frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0004370) | Abnormality of temperature regulation | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0003011) | Abnormality of the musculature | Occasional [Orphanet] | 47 / 7739 | |||
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(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(MedDRA:10025421) | Macule | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Erythrokeratodermia | 1 / 7739 | ||||
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(OMIM) | Papillomatosis | 4 / 7739 | ||||
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(OMIM) | Papulosquamous erythematous plaques | 1 / 7739 | ||||
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(OMIM) | Mild spasticity | 3 / 7739 | ||||
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(MedDRA:10057660) | Spinocerebellar ataxia | 4 / 7739 | ||||
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(OMIM) | Increased granular cell layer with vacuolization and clumping of keratohyaline granules | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Giroux and Barbeau (1972) reported an apparently distinct neurocutaneous syndrome in 25 persons spanning 5 generations of a French Canadian kindred. The syndrome was characterized by the appearance, soon after birth, of papulosquamous erythematous ichthyosiform plaques, which tended ... |