porphyria
Information
- Disease name
- porphyria
- Disease ID
- DOID:13268
- Description
- "An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins." [url:http\://en.wikipedia.org/wiki/Porphyria#Subtypes]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00004397 | Completed | Phase 1 | Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of Porphyria | January 1998 | May 2000 |
| NCT00004789 | Completed | Phase 1/Phase 2 | Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria | July 1993 | |
| NCT00004396 | Completed | Phase 2 | Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias | September 1997 | |
| NCT00004330 | Completed | N/A | Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks | March 1987 | |
| NCT00004398 | Completed | Phase 1 | Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of Porphyria | January 1998 | May 2000 |
| NCT00004788 | Completed | Study of Nutritional Factors in Porphyria | May 1988 | ||
| NCT00004331 | Unknown status | Studies in Porphyria I: Characterization of Enzyme Defects | November 1992 |
- Disase is a (Disease Ontology)
- DOID:655
- Cross Reference ID (Disease Ontology)
- GARD:10353
- Cross Reference ID (Disease Ontology)
- ICD10CM:E80.20
- Cross Reference ID (Disease Ontology)
- ICD9CM:277.1
- Cross Reference ID (Disease Ontology)
- MESH:D011164
- Cross Reference ID (Disease Ontology)
- NCI:C97096
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:190912004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0032708
- Exact Synonym (Disease Ontology)
- disorder of porphyrin and hem metabolism
- Exact Synonym (Disease Ontology)
- disorder of porphyrin metabolism
- Exact Synonym (Disease Ontology)
- Hematoporphyria
- Exact Synonym (Disease Ontology)
- Porphyrinopathy
- OrphaNumber from OrphaNet (Orphanet)
- 738
- MedGen concept unique identifier (MedGen Concept name)
- C0032708
- MedGen unique identifier (MedGen Concept name)
- 10865