Inherited porphyria

Summary

Inherited porphyria (MONDO:0019142) is a disease (an umbrella term covering 9 Mondo subtypes) and 10 clinical trials. Top therapeutic interventions include heme arginate and stannsoporfin. A subtype of hereditary photodermatosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 1 000 000 (Japan) [Orphanet-validated]
• Umbrella term: 9 Mondo subtypes
• Clinical trials: 10

Clinical features

Epidemiology

Prevalence records

3 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 1 000 000	0.52	Denmark	Validated
Lifetime Prevalence	1-9 / 1 000 000	0.7	Japan	Validated
Point prevalence	1-9 / 100 000	5.25	Worldwide	Not yet validated

Identifiers

Disease identifiers

Field	Value
Canonical name	inherited porphyria
Mondo ID	MONDO:0019142
Orphanet	738
DOID	DOID:13268
SNOMED CT	371628009
UMLS	C1275125
MedGen	698423
GARD	0010353
MedDRA	10036181, 10061356
Is cancer (heuristic)	no

Also known as: disorder of porphyrin and heme metabolism · disorder of porphyrin metabolism · hereditary porphyria · porphyria

Disease family

This is a subtype of hereditary photodermatosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary skin disorder › hereditary photodermatosis › inherited porphyria

Related subtypes (5): Bloom syndrome, Rothmund-Thomson syndrome, UV-sensitive syndrome, xeroderma pigmentosum-Cockayne syndrome complex, xeroderma pigmentosum

Subtypes (9): erythropoietic protoporphyria, cutaneous porphyria, porphyria due to ALA dehydratase deficiency, erythropoietic uroporphyria associated with myeloid malignancy, chester porphyria, UROD-related inherited porphyria, HMBS-related hepatic porphyria, PPOX-related hepatic porphyria, CPOX-related hereditary coproporphyria

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 10.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	6
PHASE1	2
PHASE2	1
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00004396	PHASE2	COMPLETED	Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias
NCT00004789	PHASE1/PHASE2	COMPLETED	Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria
NCT00004397	PHASE1	COMPLETED	Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of Porphyria
NCT00004398	PHASE1	COMPLETED	Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of Porphyria
NCT00004330	Not specified	COMPLETED	Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks
NCT00004331	Not specified	UNKNOWN	Studies in Porphyria I: Characterization of Enzyme Defects
NCT00004788	Not specified	COMPLETED	Study of Nutritional Factors in Porphyria
NCT03547297	Not specified	TERMINATED	INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP
NCT03906214	Not specified	COMPLETED	Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria
NCT05496933	Not specified	UNKNOWN	Colombia National Porphyria Registry

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
HEME ARGINATE	3	4
STANNSOPORFIN	3	4