Pellagra-like skin rash-neurological manifestations
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 26 |
| OrphanetNr: | 2837 |
| OMIM Id: |
260650
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| ICD-10: |
E72.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of tryptophan metabolism
-Rare genetic disease Genetic photodermatosis -Rare genetic disease Rare photodermatosis -Rare skin disease |
Symptom Information:
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(HPO:0000518) | Cataract | Frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000639) | Nystagmus | Very frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0000651) | Diplopia | Frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0004337) | Abnormality of amino acid metabolism | Very frequent [Orphanet] | 45 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0001289) | Confusion | 36 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0002167) | Neurological speech impairment | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0004372) | Reduced consciousness/confusion | Frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0100022) | Abnormality of movement | Frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0001315) | Reduced tendon reflexes | Frequent [Orphanet] | 160 / 7739 | |||
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(HPO:0000958) | Dry skin | Very frequent [Orphanet] | 152 / 7739 | |||
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(HPO:0000988) | Skin rash | Very frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0001025) | Urticaria | Very frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0001522) | Death in infancy | Frequent [Orphanet] | 275 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Defect in degradation of tryptophan | 1 / 7739 | ||||
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(OMIM) | Impaired synthesis of quinolinic acid and nicotinamide nucleotides from tryptophan | 1 / 7739 | ||||
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(OMIM) | No aminoaciduria or indicanuria | 1 / 7739 | ||||
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(OMIM) | No tryptophan malabsorption or tryptophanuria | 1 / 7739 | ||||
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(OMIM) | Pellagra-like rash | 1 / 7739 | ||||
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(OMIM) | Red, scaly rash of face, upper chest, hands, and legs | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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