Erythropoietic protoporphyria

General Information (adopted from Orphanet):

Synonyms, Signs: XLDPP
EPP
Number of Symptoms 16
OrphanetNr: 79278
OMIM Id: 177000
300752
ICD-10: E80.0
UMLs: C0162568
MeSH: D046351
MedDRA: 10015289
Snomed: 51022005

Prevalence, inheritance and age of onset:

Prevalence: 0.9 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
X-linked dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Porphyria
 -Rare genetic disease
 -Rare renal disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0001081) Cholelithiasis 36 / 7739
2
 (HPO:0001399) Hepatic failure 80 / 7739
3
 (HPO:0001394) Cirrhosis Occasional [Orphanet] 102 / 7739
4
 (HPO:0012437) Abnormal gallbladder morphology Occasional [Orphanet] 17 / 7739
5
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
6
 (HPO:0000989) Pruritus 111 / 7739
7
 (HPO:0000964) Eczema Occasional [Orphanet] 81 / 7739
8
 (HPO:0001025) Urticaria Very frequent [Orphanet] 73 / 7739
9
 (HPO:0000992) Cutaneous photosensitivity Very frequent [Orphanet] 75 / 7739
10
 (HPO:0001878) Hemolytic anemia 83 / 7739
11
 (HPO:0001935) Microcytic anemia Occasional [Orphanet] 32 / 7739
12
 (HPO:0002155) Hypertriglyceridemia 67 / 7739
13
 (HPO:0000969) Edema Occasional [Orphanet] 117 / 7739
14
 (HPO:0011463) Childhood onset 65 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: