Porphyria cutanea tarda
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PCT |
| Number of Symptoms | 25 |
| OrphanetNr: | 101330 |
| OMIM Id: |
176090
176100 |
| ICD-10: |
E80.1 |
| UMLs: |
C0162566 |
| MeSH: |
D017119 |
| MedDRA: |
10036183 |
| Snomed: |
61860000 |
Prevalence, inheritance and age of onset:
| Prevalence: | 4 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT Chronic hepatic porphyria -Rare genetic disease -Rare renal disease -Rare skin disease Genodermatosis with ocular features -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0100021) | Cerebral palsy | Occasional [Orphanet] | 36 / 7739 | |||
|
|
(HPO:0004372) | Reduced consciousness/confusion | Occasional [Orphanet] | 73 / 7739 | |||
|
|
(HPO:0001397) | Hepatic steatosis | Occasional [Orphanet] | 75 / 7739 | |||
|
|
(HPO:0001395) | Hepatic fibrosis | 67 / 7739 | ||||
|
|
(HPO:0001394) | Cirrhosis | Occasional [Orphanet] | 102 / 7739 | |||
|
|
(HPO:0006568) | Increased hepatic glycogen content | Occasional [Orphanet] | 34 / 7739 | |||
|
|
(HPO:0002896) | Neoplasm of the liver | Occasional [Orphanet] | 17 / 7739 | |||
|
|
(HPO:0007400) | Irregular hyperpigmentation | Very frequent [Orphanet] | 72 / 7739 | |||
|
|
(HPO:0001053) | Hypopigmented skin patches | Very frequent [Orphanet] | 80 / 7739 | |||
|
|
(HPO:0000953) | Hyperpigmentation of the skin | 75 / 7739 | ||||
|
|
(HPO:0011362) | Abnormal hair quantity | Occasional [Orphanet] | 92 / 7739 | |||
|
|
(HPO:0001030) | Fragile skin | 25 / 7739 | ||||
|
|
(HPO:0010783) | Erythema | Very frequent [Orphanet] | 138 / 7739 | |||
|
|
(HPO:0000988) | Skin rash | Very frequent [Orphanet] | 98 / 7739 | |||
|
|
(HPO:0000998) | Hypertrichosis | 52 / 7739 | ||||
|
|
(HPO:0000992) | Cutaneous photosensitivity | Very frequent [Orphanet] | 75 / 7739 | |||
|
|
(HPO:0200037) | Skin vesicle | Very frequent [Orphanet] | 102 / 7739 | |||
|
|
(HPO:0000964) | Eczema | 81 / 7739 | ||||
|
|
(HPO:0000987) | Atypical scarring of skin | Occasional [Orphanet] | 58 / 7739 | |||
|
|
(HPO:0000963) | Thin skin | Very frequent [Orphanet] | 96 / 7739 | |||
|
|
(HPO:0001695) | Cardiac arrest | Occasional [Orphanet] | 87 / 7739 | |||
|
|
(HPO:0000969) | Edema | Occasional [Orphanet] | 117 / 7739 | |||
|
|
(HPO:0010473) | Porphyrinuria | 2 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(HPO:0001425) | Heterogeneous | 132 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|