eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| porphyria variegata | ||||
| Disease ID | 447 |
|---|---|
| Disease | porphyria variegata |
| Definition | An autosomal dominant disorder of porphyria-heme metabolism. It is manifested with acute attacks including abdominal pain, vomiting, diarrhea, constipation, seizures, anxiety, and confusion. Patients may experience skin sensitivity to sunlight. |
| Synonym | dean-barnes syndrome deficiencies, protoporphyrinogen oxidase mixed porphyria porphyria cutanea tarda hereditaria porphyria variegate porphyria variegated porphyria variegates porphyria, mixed hepatic porphyria, variegate porphyria, variegate [disease/finding] ppox deficiency protocoproporphyria protoporphyrinogen oxidase defic protoporphyrinogen oxidase deficiency protoporphyrinogen oxidase deficiency (disorder) variegate porphyria variegate porphyria (disorder) variegate, porphyria variegates, porphyria vp - variegate porphyria |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0162532 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:18) 210 | ALAD | 4.334 | DISEASES 1544 | CYP1A2 | 1.087 | DISEASES 2235 | FECH | 3.304 | DISEASES 10020 | GNE | 1.909 | DISEASES 3077 | HFE | 2.122 | DISEASES 10989 | IMMT | 2.122 | DISEASES 387755 | INSC | 2.537 | DISEASES 3980 | LIG3 | 1.634 | DISEASES 4295 | MLN | 1.506 | DISEASES 4948 | OCA2 | 1.823 | DISEASES 54681 | P4HTM | 2.57 | DISEASES 5498 | PPOX | 7.546 | DISEASES 5265 | SERPINA1 | 1.452 | DISEASES 5272 | SERPINB9 | 2.379 | DISEASES 23410 | SIRT3 | 1.443 | DISEASES 84000 | TMPRSS13 | 2.882 | DISEASES 7352 | UCP3 | 1.52 | DISEASES 7390 | UROS | 6.359 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) PPOX | 1q23.3 |
| Disease ID | 447 |
|---|---|
| Disease | porphyria variegata |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:23) HP:0002027 | Abdominal pain HP:0002019 | Constipation HP:0012531 | Pain HP:0002019 | Dyschezia HP:0000963 | Thin skin HP:0001289 | Confusion HP:0001053 | Hypopigmented skin patches HP:0002017 | Nausea and vomiting HP:0009830 | Peripheral neuritis HP:0001649 | Tachycardia HP:0002367 | Visual hallucinations HP:0008066 | Abnormal blistering of the skin HP:0000739 | Anxiety HP:0000992 | Skin photosensitivity HP:0001250 | Seizures HP:0000709 | Psychosis HP:0010473 | Porphyrinuria HP:0001324 | Muscle weakness HP:0000992 | Cutaneous photosensitivity HP:0007178 | Motor polyneuropathy HP:0000716 | Depression HP:0002013 | Emesis HP:0100699 | Scarring |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 447 |
|---|---|
| Disease | porphyria variegata |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0162532 | protocoproporphyria |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:15) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918323 | NA | 5498 | PPOX | umls:C0162532 | CLINVAR | NA | 0.457577708 | NA | PPOX | 1 | 161169070 | G | C |
| rs121918324 | 8673113 | 5498 | PPOX | umls:C0162532 | BeFree | A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. | 0.457577708 | 1996 | PPOX | 1 | 161167187 | C | T |
| rs121918324 | NA | 5498 | PPOX | umls:C0162532 | CLINVAR | NA | 0.457577708 | NA | PPOX | 1 | 161167187 | C | T |
| rs121918324 | 10401000 | 5498 | PPOX | umls:C0162532 | BeFree | Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently severely affected patient previously shown to carry the protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for dominantly inherited variegate porphyria (VP) in >80% of affected South Africans. | 0.457577708 | 1999 | PPOX | 1 | 161167187 | C | T |
| rs121918324 | 10401000 | 3077 | HFE | umls:C0162532 | BeFree | Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently severely affected patient previously shown to carry the protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for dominantly inherited variegate porphyria (VP) in >80% of affected South Africans. | 0.000271442 | 1999 | PPOX | 1 | 161167187 | C | T |
| rs121918325 | NA | 5498 | PPOX | umls:C0162532 | CLINVAR | NA | 0.457577708 | NA | PPOX | 1 | 161168462 | C | T |
| rs121918326 | NA | 5498 | PPOX | umls:C0162532 | CLINVAR | NA | 0.457577708 | NA | PPOX | 1 | 161166906 | A | C |
| rs141274934 | 19320019 | 5498 | PPOX | umls:C0162532 | UNIPROT | Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate. | 0.457577708 | 2009 | PPOX | 1 | 161170711 | C | A |
| rs1799945 | 10401000 | 5498 | PPOX | umls:C0162532 | BeFree | Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently severely affected patient previously shown to carry the protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for dominantly inherited variegate porphyria (VP) in >80% of affected South Africans. | 0.457577708 | 1999 | HFE | 6 | 26090951 | C | G |
| rs1799945 | 10401000 | 3077 | HFE | umls:C0162532 | BeFree | Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently severely affected patient previously shown to carry the protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for dominantly inherited variegate porphyria (VP) in >80% of affected South Africans. | 0.000271442 | 1999 | HFE | 6 | 26090951 | C | G |
| rs28934595 | 10401000 | 5498 | PPOX | umls:C0162532 | BeFree | Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently severely affected patient previously shown to carry the protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for dominantly inherited variegate porphyria (VP) in >80% of affected South Africans. | 0.457577708 | 1999 | HFE | 6 | 26091354 | A | C |
| rs28934595 | 10401000 | 3077 | HFE | umls:C0162532 | BeFree | Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently severely affected patient previously shown to carry the protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for dominantly inherited variegate porphyria (VP) in >80% of affected South Africans. | 0.000271442 | 1999 | HFE | 6 | 26091354 | A | C |
| rs28936677 | NA | 5498 | PPOX | umls:C0162532 | CLINVAR | NA | 0.457577708 | NA | PPOX | 1 | 161166882 | T | C |
| rs41270025 | NA | 5498 | PPOX | umls:C0162532 | CLINVAR | NA | 0.457577708 | NA | PPOX | 1 | 161168463 | G | A,T |
| rs786204784 | NA | 5498 | PPOX | umls:C0162532 | CLINVAR | NA | 0.457577708 | NA | PPOX | 1 | 161167211 | C | - |
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:0000963 | Thin skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| 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:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| 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:0012531 | Pain | MP:0011968 | decreased threshold for auditory brainstem response | reduction in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system |
| HP:0000963 | Thin skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001053 | Hypopigmented skin patches | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000992 | Cutaneous photosensitivity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007178 | Motor polyneuropathy | MP:0012712 | spinal cord degeneration | a retrogressive impairment of function or destruction of the spinal cord |
| HP:0001289 | Confusion | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002013 | Vomiting | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001649 | Tachycardia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| 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:0000709 | Psychosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002367 | Visual hallucinations | 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:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0010473 | Porphyrinuria | MP:0012307 | impaired spatial learning | impaired ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues |
| HP:0100699 | Scarring | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| Disease ID | 447 |
|---|---|
| Disease | porphyria variegata |
| Case | (Waiting for update.) |