Porphyria
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 22 |
| OrphanetNr: | 738 |
| OMIM Id: |
|
| ICD-10: |
E80 |
| UMLs: |
C0032708 |
| MeSH: |
D011164 |
| MedDRA: |
10036181 10061356 |
| Snomed: |
29094004 371628009 418470004 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of porphyrin and haem metabolism
-Rare genetic disease Genetic photodermatosis -Rare genetic disease Metabolic disease with skin involvement -Rare genetic disease -Rare skin disease Nephropathy secondary to a storage or other metabolic disease -Rare genetic disease -Rare renal disease Rare photodermatosis -Rare skin disease |
Symptom Information:
|
|
(HPO:0012086) | Abnormal urinary color | Very frequent [Orphanet] | 19 / 7739 | |||
|
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(HPO:0000738) | Hallucinations | Occasional [Orphanet] | 60 / 7739 | |||
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(HPO:0000763) | Sensory neuropathy | Occasional [Orphanet] | 78 / 7739 | |||
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(HPO:0002360) | Sleep disturbance | Frequent [Orphanet] | 113 / 7739 | |||
|
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(HPO:0000708) | Behavioral abnormality | Occasional [Orphanet] | 212 / 7739 | |||
|
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0100021) | Cerebral palsy | Occasional [Orphanet] | 36 / 7739 | |||
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(HPO:0100749) | Chest pain | Frequent [Orphanet] | 92 / 7739 | |||
|
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(HPO:0002017) | Nausea and vomiting | Frequent [Orphanet] | 134 / 7739 | |||
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(HPO:0002019) | Constipation | Frequent [Orphanet] | 194 / 7739 | |||
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(HPO:0002014) | Diarrhea | Frequent [Orphanet] | 225 / 7739 | |||
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(HPO:0002039) | Anorexia | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0002027) | Abdominal pain | Frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0001000) | Abnormality of skin pigmentation | Frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0200037) | Skin vesicle | Frequent [Orphanet] | 102 / 7739 | |||
|
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(HPO:0000989) | Pruritus | Frequent [Orphanet] | 111 / 7739 | |||
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(HPO:0000992) | Cutaneous photosensitivity | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0000822) | Hypertension | Frequent [Orphanet] | 224 / 7739 | |||
|
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(HPO:0010472) | Abnormality of the heme biosynthetic pathway | Very frequent [Orphanet] | 2 / 7739 | |||
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(HPO:0001945) | Fever | Occasional [Orphanet] | 218 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Occasional [Orphanet] | 859 / 7739 | |||
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(HPO:0003394) | Muscle cramps | Occasional [Orphanet] | 106 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|