Inborn disorder of porphyrin metabolism

MONDO:0017754

An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.

Also known as: disorder of porphyrin and haem metabolism, inborn disorder of porphyrin and haem metabolism, inborn error of porphyrin-containing compound metabolic process, inborn porphyrin-containing compound metabolic process disorder, inherited disorder of porphyrin metabolism, rare inborn error of porphyrin-containing compound metabolic process

63 clinical trials for this condition and its sub-types, 0 tagged with Inborn disorder of porphyrin metabolism itself.

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Where it sits in the disease tree

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Part of

↑ Inborn errors of metabolism (2231) ↑ Porphyrin metabolism disease (64)

Sub-types of Inborn disorder of porphyrin metabolism

Inborn disorder of bilirubin metabolism 0 trials · 39 incl. sub-types
5 sub-types
- Hereditary hyperbilirubinemia 0 trials · 18 incl. sub-types Sub-types →
- Progressive familial intrahepatic cholestasis 16 trials · 17 incl. sub-types Sub-types →
- Benign recurrent intrahepatic cholestasis 2 trials · 5 incl. sub-types Sub-types →
- Bilirubin encephalopathy 3 trials Sub-types →
- Arthrogryposis-renal dysfunction-cholestasis syndrome 1 trial Sub-types →
Inherited porphyria 0 trials · 24 incl. sub-types
9 sub-types
- Erythropoietic protoporphyria 15 trials Sub-types →
- CPOX-related hereditary coproporphyria 0 trials · 5 incl. sub-types Sub-types →
- HMBS-related hepatic porphyria 0 trials · 5 incl. sub-types Sub-types →
- PPOX-related hepatic porphyria 0 trials · 2 incl. sub-types Sub-types →
- Cutaneous porphyria 2 trials
- UROD-related inherited porphyria 0 trials · 1 incl. sub-types Sub-types →
- Chester porphyria 0 trials
- Erythropoietic uroporphyria associated with myeloid malignancy 0 trials
- Porphyria due to ALA dehydratase deficiency 0 trials
X-linked sideroblastic anemia 1 0 trials
Heme oxygenase 1 deficiency 0 trials

Most studied deeper sub-types

Transient familial neonatal hyperbilirubinemia (18) X-linked erythropoietic protoporphyria (10) Acute intermittent porphyria (5) Hereditary coproporphyria (5) Progressive familial intrahepatic cholestasis type 1 (4) Progressive familial intrahepatic cholestasis type 2 (4) Cholestasis, progressive familial intrahepatic, 4 (2) Progressive familial intrahepatic cholestasis type 3 (2) Protoporphyria, erythropoietic, 1 (2) Variegate porphyria (2) Cholestasis, progressive familial intrahepatic, 5 (1) Cholestasis, progressive familial intrahepatic, 6 (1) Familial porphyria cutanea tarda (1) Hereditary North American Indian childhood cirrhosis (1) Protoporphyria, erythropoietic, 2 (1) Arthrogryposis, renal dysfunction, and cholestasis 1 (0) Arthrogryposis, renal dysfunction, and cholestasis 2 (0) Autosomal erythropoietic protoporphyria (0) Benign recurrent intrahepatic cholestasis type 1 (0) Benign recurrent intrahepatic cholestasis type 2 (0)

Including sub-types (63) Tagged with Inborn disorder of porphyrin metabolism (0)

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