ORPHA:95159

Hepatoerythropoietic porphyria

Synonyms: HEP

A rare form of hepatic porphyria characterized by bullous photodermatosis.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hepatoerythropoietic porphyria	HEP
fr	Porphyrie hépatoérythropoïétique	= en
de	Porphyrie, hepatoerythropoetische (HEP)
es	Porfiria hepatoeritropoyética	= en
it	Porfiria epato-eritropoietica	= en
nl	Hepato-erytropoëtische porfyrie	= en
pt	Porfiria hepatoeritropoética
pl	Porfiria hepatoerytropoetyczna	= en
cs	Hepatoerytropoetická porfyrie	= en
uk	Гепатоеритропоетична порфірія	= en
zh	肝性红细胞生成性卟啉病	= en
tr	Hepatoeritropoetik porfiri	= en

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	176100	NTBT		validated
ICD-10	E80.2	NTBT	attributed	validated
ICD-11	5C58.1Y	NTBT	index	validated
MONDO	0019799	E		validated
MeSH	D017121	E		validated
UMLS	C0162569	E		validated
GARD	6169	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:659681Erythropoietic porphyria
rare inborn errors of metabolism; rare genetic diseases; rare skin diseases; rare renal diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
UROD	Disease-causing germline mutation(s) in	Assessed	HGNC:12591	ENSG00000126088	613521	1p34.1	uroporphyrinogen decarboxylase	24175354[PMID]_21668429[PMID]_17240319[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		40 cases	Worldwide	Case(s)	Validated	[EXPERT]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

37 annotations · validated 2021-05-17

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0008066	Abnormal blistering of the skin
HP:0012379	Abnormal enzyme/coenzyme activity
HP:0001030	Fragile skin
HP:0007537	Severe photosensitivity
Frequent (79-30%)
HP:0010472	Abnormal circulating porphyrin concentration
HP:0030756	Erythrodontia
HP:0000953	Hyperpigmentation of the skin
HP:0001010	Hypopigmentation of the skin
HP:0032999	Increased fecal porphyrin
HP:0001790	Nonimmune hydrops fetalis
HP:0040322	Purple urine
HP:0005406	Recurrent bacterial skin infections
HP:0040318	Red urine
HP:0040320	Red-brown urine
HP:0100699	Scarring
HP:0200041	Skin erosion
Occasional (29-5%)
HP:0001892	Abnormal bleeding
HP:0001560	Abnormality of the amniotic fluid
HP:0012804	Corneal ulceration
HP:0000656	Ectropion
HP:0012132	Erythroid hyperplasia
HP:0002219	Facial hypertrichosis
HP:0001878	Hemolytic anemia
HP:0011457	Loss of eyelashes
HP:0000938	Osteopenia
HP:0000939	Osteoporosis
HP:0004552	Scarring alopecia of scalp
HP:0001744	Splenomegaly
HP:0001072	Thickened skin
Very rare (<4-1%)
HP:0000618	Blindness
HP:0000969	Edema
HP:0001096	Keratoconjunctivitis
HP:0002797	Osteolysis
HP:0003401	Paresthesia
HP:0000989	Pruritus
HP:0100532	Scleritis
HP:0500046	Seborrhoeic blepharitis

Annotation source: 24175354[PMID]