Hepatoerythropoietic porphyria

General Information (adopted from Orphanet):

Synonyms, Signs: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY
PORPHYRIA, HEPATOCUTANEOUS TYPE
PCT, &#39
FAMILIAL&#39
HEP, INCLUDED
UROD DEFICIENCY PORPHYRIA, HEPATOERYTHROPOIETIC, INCLUDED
PCT, TYPE II
PORPHYRIA CUTANEA TARDA, TYPE II
HEP
TYPE
PCT
Number of Symptoms 18
OrphanetNr: 95159
OMIM Id: 176100
ICD-10: E80.2
UMLs: C0162569
C0268324
MeSH: D017121
MedDRA:
Snomed: 111386004

Prevalence, inheritance and age of onset:

Prevalence: < 40 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Chronic hepatic porphyria
 -Rare genetic disease
 -Rare renal disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0001394) Cirrhosis 102 / 7739
2
(HPO:0001402) Hepatocellular carcinoma 25 / 7739
3
(HPO:0001030) Fragile skin 25 / 7739
4
(HPO:0005586) Hyperpigmentation in sun-exposed areas 2 / 7739
5
(HPO:0001596) Alopecia 162 / 7739
6
(HPO:0002219) Facial hypertrichosis 8 / 7739
7
(HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
8
(HPO:0001806) Onycholysis 20 / 7739
9
(HPO:0000992) Cutaneous photosensitivity Very frequent [Orphanet] 75 / 7739
10
(HPO:0100324) Scleroderma 6 / 7739
11
(HPO:0001878) Hemolytic anemia Very frequent [Orphanet] 83 / 7739
12
(OMIM) Hepatic hemosiderosis 2 / 7739
13
(OMIM) Blisters in sun-exposed areas 1 / 7739
14
(OMIM) Reduced liver and red cell uroporphyrinogen decarboxylase 2 / 7739
15
(OMIM) Liver biopsy shows red autofluorescence and needle-like cytoplasmic inclusion bodies 1 / 7739
16
(OMIM) Fingernail onycholysis 1 / 7739
17
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
(OMIM) Mechanically fragile skin 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).

De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most ...

Clinical Description OMIM Onset of light-sensitive dermatitis in later adult life, associated with the excretion of large amounts of uroporphyrin in urine, characterizes porphyria cutanea tarda, which was so named by Waldenstrom (1937). On areas of skin exposed to sunlight, especially ...
Molecular genetics OMIM Using hybridization probes for the UROD gene in the study of genomic DNA from patients with familial PCT, Hansen et al. (1988) could not identify any major deletions, rearrangements, or restriction fragment length polymorphisms.

In the ...

Population genetics OMIM The incidence of PCT varies from approximately 1 in 25,000 in the United States to approximately 1 in 5,000 in the Czech Republic and Slovakia (review by Lambrecht et al., 2007).

PCT is common in the ...