eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| porphyria | ||||
| Disease ID | 386 |
|---|---|
| Disease | porphyria |
| Definition | group of disorders characterized by the excessive production of porphyrins or their precursors that arises from abnormalities in the regulation of the porphyrin-heme pathway; acquired porphyrias, which are due to inhibition of enzymes in the metabolic pathway by a drug, toxin or abnormal metabolite, are more common than those which are inherited. |
| Synonym | dis porphyrin metabolism disorder of porphyrin and haem metabolism disorder of porphyrin and hem metabolism disorder of porphyrin and heme metabolism disorder of porphyrin and heme metabolism (disorder) disorder of porphyrin metabolism disorder of porphyrin metabolism (disorder) disorder of porphyrin metabolism, nos disorder, porphyrin disorders of porphyrin metabolism disorders of porphyrin metabolism (disorder) disorders, porphyrin hematoporphyria porphyria (disorder) porphyria nos porphyria nos (disorder) porphyria, nos porphyrias porphyrias [disease/finding] porphyrin disorder porphyrin disorders porphyrinopathies porphyrinopathy porphyrinopathy (disorder) porphyrinopathy, nos |
| Orphanet | |
| DOID | |
| UMLS | C0032708 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:31) C0162565 | acute intermittent porphyria | 8 C0031048 | constrictive pericarditis | 2 C0026769 | multiple sclerosis | 2 C0022658 | renal disease | 2 C0023895 | hepatic disease | 1 C1527336 | sjogren's syndrome | 1 C1527358 | phototoxicity | 1 C0002878 | hemolytic anemia | 1 C1621895 | adrenal hyperplasia | 1 C0002878 | haemolytic anaemia | 1 C0019158 | hepatitis | 1 C0022661 | end-stage renal disease | 1 C0014742 | erythema multiforme | 1 C0442874 | neuropathy | 1 C0162532 | porphyria variegata | 1 C0001627 | congenital adrenal hyperplasia | 1 C0032708 | porphyria | 1 C0023903 | liver cancer | 1 C0155320 | cortical blindness | 1 C0022661 | chronic renal failure | 1 C1145670 | respiratory failure | 1 C0030805 | pemphigoid | 1 C0030286 | pancreatic diseases | 1 C0162568 | erythropoietic protoporphyria | 1 C0030286 | pancreatic disease | 1 C0024141 | systemic lupus erythematosus | 1 C0002871 | anemia | 1 C0018995 | hemochromatosis | 1 C0002871 | anaemia | 1 C0456909 | blindness | 1 C0409974 | lupus erythematosus | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:10) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:59) 23456 | ABCB10 | 1.498 | DISEASES 174 | AFP | 1.004 | DISEASES 210 | ALAD | 5.617 | DISEASES 212 | ALAS2 | 5.686 | DISEASES 537 | ATP6AP1 | 1.841 | DISEASES 551 | AVP | 3.626 | DISEASES 631 | BFSP1 | 1.798 | DISEASES 641 | BLM | 1.484 | DISEASES 1504 | CTRB1 | 2.157 | DISEASES 1544 | CYP1A2 | 3.999 | DISEASES 1553 | CYP2A13 | 1.281 | DISEASES 1555 | CYP2B6 | 3.563 | DISEASES 1576 | CYP3A4 | 1.426 | DISEASES 57119 | EPPIN | 2.149 | DISEASES 2235 | FECH | 7.65 | DISEASES 2623 | GATA1 | 1.496 | DISEASES 8443 | GNPAT | 1.526 | DISEASES 2880 | GPX5 | 1.742 | DISEASES 257202 | GPX6 | 1.753 | DISEASES 23426 | GRIP1 | 1.597 | DISEASES 3077 | HFE | 5.639 | DISEASES 148738 | HFE2 | 2.417 | DISEASES 3105 | HLA-A | 1.254 | DISEASES 3240 | HP | 1.805 | DISEASES 338376 | IFNE | 1.752 | DISEASES 387755 | INSC | 2.229 | DISEASES 55656 | INTS8 | 2.257 | DISEASES 102723508 | KANTR | 1.137 | DISEASES 4094 | MAF | 1.054 | DISEASES 4157 | MC1R | 2.445 | DISEASES 8131 | NPRL3 | 2.313 | DISEASES 54681 | P4HTM | 1.305 | DISEASES 5091 | PC | 2.266 | DISEASES 5178 | PEG3 | 1.216 | DISEASES 5313 | PKLR | 1.005 | DISEASES 5447 | POR | 1.125 | DISEASES 5498 | PPOX | 7.057 | DISEASES 80324 | PUS1 | 1.843 | DISEASES 6014 | RIT2 | 1.485 | DISEASES 6342 | SCP2 | 1.249 | DISEASES 5265 | SERPINA1 | 1.065 | DISEASES 6906 | SERPINA7 | 1.32 | DISEASES 5272 | SERPINB9 | 1.114 | DISEASES 23410 | SIRT3 | 1.134 | DISEASES 23408 | SIRT5 | 1.532 | DISEASES 6565 | SLC15A2 | 1.804 | DISEASES 51312 | SLC25A37 | 3.417 | DISEASES 8803 | SUCLA2 | 1.531 | DISEASES 6999 | TDO2 | 3.202 | DISEASES 54790 | TET2 | 1.682 | DISEASES 7018 | TF | 3.727 | DISEASES 7037 | TFRC | 1.943 | DISEASES 51337 | THEM6 | 1.336 | DISEASES 51643 | TMBIM4 | 1.197 | DISEASES 84000 | TMPRSS13 | 1.616 | DISEASES 10194 | TSHZ1 | 1.242 | DISEASES 7360 | UGP2 | 1.671 | DISEASES 7390 | UROS | 6.832 | DISEASES 23038 | WDTC1 | 1.495 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 386 |
|---|---|
| Disease | porphyria |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:25) C1963195 | skin pain C1963138 | hypertension C1963101 | encephalopathy C1565489 | renal insufficiency C1288283 | anetoderma C0752303 | urological manifestations C0740577 | acute abdominal pain C0442874 | neuropathy C0235031 | neurological symptoms C0162830 | phototoxic reaction C0149622 | atonic neurogenic bladder C0042900 | vitiligo C0042769 | virus infection C0037284 | skin lesions C0036572 | seizures C0036205 | pulmonary sarcoidosis C0029166 | oral manifestations C0027765 | neurological disorders C0020625 | hyponatremia C0018378 | landry paralysis C0015411 | eye manifestations C0014544 | epilepsy C0007398 | catatonia C0007286 | carpal tunnel syndrome C0000727 | acute abdomen |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0442874 | neuropathy | 1 C0036572 | seizures | 1 C0085584 | encephalopathy | 1 C0020625 | hyponatremia | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918057 | 3775362 | 7389 | UROD | umls:C0032708 | BeFree | Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria. | 0.007610304 | 1986 | UROD | 1 | 45014803 | G | A,T |
| rs121918324 | 15660919 | 5498 | PPOX | umls:C0032708 | BeFree | Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria. | 0.001357209 | 2005 | PPOX | 1 | 161167187 | C | T |
| rs369855221 | 18406650 | 3145 | HMBS | umls:C0032708 | BeFree | In this study, we report two novel missense sequence variations in the HMBS gene, T59I (C176T) and V215M (G643A), in two patients with clinical symptoms compatible with acute attacks of porphyria. | 0.009444384 | 2008 | HMBS | 11 | 119092797 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008066 | Abnormal blistering of the skin | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0000992 | Cutaneous photosensitivity | MP:0001202 | skin photosensitivity | abnormally heightened reactivity of the skin to sunlight |
| HP:0001000 | Abnormality of skin pigmentation | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0010472 | Abnormality of the heme biosynthetic pathway | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
Mapped by homologous gene(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0100021 | Cerebral palsy | MP:0013026 | decreased Ly6C low monocyte number | decrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000992 | Cutaneous photosensitivity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000738 | Hallucinations | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002019 | Constipation | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002039 | Anorexia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003401 | Paresthesia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0008066 | Abnormal blistering of the skin | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0010472 | Abnormality of the heme biosynthetic pathway | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 386 |
|---|---|
| Disease | porphyria |
| Case | (Waiting for update.) |