ORPHA:79273

Hereditary coproporphyria

A rare acute hepatic porphyria characterized by neurovisceral attacks and, more rarely, skin lesions.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hereditary coproporphyria
fr	Coproporphyrie héréditaire
de	Koproporphyrie, hereditäre
es	Coproporfiria hereditaria
it	Coproporfiria ereditaria
nl	Erfelijke coproporfyrie
pt	Coproporfiria hereditária
pl	Koproporfiria dziedziczna
cs	Hereditární koproporfyrie
uk	Спадкова копропорфірія
zh	遗传性粪卟啉症
tr	Kalıtsal koproporfiri

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	121300	E		validated
ICD-10	E80.2	NTBT	attributed	validated
ICD-11	5C58.1Y	NTBT	index	validated
MONDO	0007369	E		validated
MeSH	D046349	E		validated
UMLS	C0162531	E		validated
GARD	6619	E		validated
MedDRA	10019866	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:95157Acute hepatic porphyria
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare hepatic diseases; rare skin diseases; rare renal diseases; rare transplant-related disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CPOX	Disease-causing germline mutation(s) in	Assessed	HGNC:2321	ENSG00000080819	612732	3q11.2	coproporphyrinogen oxidase	23236641[PMID]

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 1 000 000	—	Europe	Class only	Not yet 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.

33 annotations · validated 2020-06-15

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0002027	Abdominal pain
HP:0010472	Abnormal circulating porphyrin concentration
HP:0003163	Elevated urinary delta-aminolevulinic acid
Frequent (79-30%)
HP:0011121	Abnormal skin morphology
HP:0000987	Atypical scarring of skin
HP:0040319	Dark urine
HP:0002460	Distal muscle weakness
HP:0002572	Episodic vomiting
HP:0012217	Increased urinary porphobilinogen
HP:0009763	Limb pain
HP:0002018	Nausea
HP:0010473	Porphyrinuria
HP:0008994	Proximal muscle weakness in lower limbs
HP:0008997	Proximal muscle weakness in upper limbs
Occasional (29-5%)
HP:0008066	Abnormal blistering of the skin
HP:0003418	Back pain
HP:0000992	Cutaneous photosensitivity
HP:0005325	Extension of hair growth on temples to lateral eyebrow
HP:0009937	Facial hirsutism
HP:0001030	Fragile skin
HP:0001402	Hepatocellular carcinoma
HP:0002902	Hyponatremia
HP:0032936	Intrusion symptom
HP:0008528	Long hairs growing from helix of pinna
HP:0007178	Motor polyneuropathy
HP:0000112	Nephropathy
HP:0000709	Psychosis
HP:0002093	Respiratory insufficiency
HP:0001250	Seizure
HP:0012850	Small intestinal dysmotility
HP:0001649	Tachycardia
Excluded (0%)
HP:0001903	Anemia
HP:0001945	Fever

Annotation source: 31085196[PMID]_23236641[PMID]_31085196[PMID]