eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hereditary coproporphyria | ||||
| Disease ID | 265 |
|---|---|
| Disease | hereditary coproporphyria |
| Definition | An autosomal dominant inherited disorder of porphyrin metabolism caused by deficiency of the enzyme coproporphyrinogen oxidase. It results in neurologic damage and can include abdominal pain, constipation and psychiatric manifestations. |
| Synonym | berger-goldberg syndrome coproporphyria, hereditary coproporphyria, hereditary [disease/finding] coproporphyrinogen oxidase defic coproporphyrinogen oxidase deficiency coproporphyrinogen oxidase deficiency (disorder) cpo - coproporphyrinogen oxidase deficiency cpo deficiency cpox deficiency cpro deficiency cpx deficiency deficiency, coproporphyrinogen oxidase hcp hcp - hereditary coproporphyria hereditary coproporphyria (disorder) hereditary coproporphyria porphyria porphyria hepatica ii |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0162531 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:7) |
| Locus | Symbol | Locus(Total Locus:1) CPOX | 3q11.2 |
| Disease ID | 265 |
|---|---|
| Disease | hereditary coproporphyria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:21) HP:0000963 | Thin skin HP:0000708 | Behavioral abnormality HP:0000998 | Hypertrichosis HP:0001250 | Seizures HP:0002367 | Visual hallucinations HP:0002829 | Arthralgia HP:0003326 | Myalgia HP:0008765 | Auditory hallucinations HP:0008066 | Abnormal blistering of the skin HP:0000992 | Cutaneous photosensitivity HP:0001289 | Confusion HP:0002902 | Hyponatremia HP:0002203 | Respiratory paralysis HP:0002019 | Constipation HP:0000716 | Depression HP:0000737 | Irritability HP:0001034 | Hypermelanotic macule HP:0002017 | Nausea and vomiting HP:0002027 | Abdominal pain HP:0001649 | Tachycardia HP:0000739 | Anxiety |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 265 |
|---|---|
| Disease | hereditary coproporphyria |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (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 |
| rs28929486 | 12181641 | 1371 | CPOX | umls:C0162531 | UNIPROT | Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria. | 0.44842463 | 2002 | NA | NA | NA | NA | NA |
| rs28929487 | 12181641 | 1371 | CPOX | umls:C0162531 | UNIPROT | Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria. | 0.44842463 | 2002 | NA | NA | NA | NA | NA |
| rs28931603 | 12181641 | 1371 | CPOX | umls:C0162531 | UNIPROT | Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria. | 0.44842463 | 2002 | CPOX | 3 | 98580709 | G | A |
GWASdb Annotation(Total Genotypes:2) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 9 | 116822650 | rs2269454 | NM_001633,AMBP | ENST00000265132,ENSG00000106927 | ENST00000466610,ENSG00000106927 | NA | NA | chr9,116820001,116830000,chrX,124770001,124780000,26,Hi-C | NA | LM5,1.8001 | LM15,2.3015 | LM31,1.9777 | LM40,2.9914 | LM87,4.3117 | NA | NA | NA | NA | NA | NA | 0.000 | -0.263 | -1.71 | R3 | T | NA | NA | NA | NA | NA | NA | NA | NA | Intergenic | DOWNSTREAM | 829 | 4.40 |
| 9 | 116837745 | rs12344124 | NM_001633,AMBP | ENST00000265132,ENSG00000106927 | ENST00000469146,ENSG00000106927 | NA | NA | chr9,116830001,116840000,chr9,116850001,116860000,27,Hi-C | chr9,116830001,116840000,chr9,116800001,116810000,41,Hi-C | chr9,116830001,116840000,chr9,116890001,116900000,5,Hi-C | chr9,116830001,116840000,chr3,38030001,38040000,6,Hi-C | chr9,116830001,116840000,chr9,138010001,138020000,6,Hi-C | chr9,116830001,116840000,chr9,116800001,116810000,7,Hi-C | NA | Nrg1-primary,1.5733 | Rap1-FL-primary,1.8714 | Tbf1-DBD-primary,1.8159 | Tye7-primary,1.5109 | LM120,1.9162 | NA | NA | NA | NA | NA | NA | 0.001 | 0.796 | 2.06 | L1 | G | NA | NA | NA | NA | NA | NA | NA |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000992 | Cutaneous photosensitivity | MP:0001202 | skin photosensitivity | abnormally heightened reactivity of the skin to sunlight |
| 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: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 |
| 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 |
Mapped by homologous gene(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000998 | Hypertrichosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000737 | Irritability | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000963 | Thin skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000992 | Cutaneous photosensitivity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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: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: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:0008765 | Auditory 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:0002902 | Hyponatremia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| 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:0001034 | Hypermelanotic macule | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0002203 | Respiratory paralysis | MP:0011414 | erythruria | passage of red colored urine |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 265 |
|---|---|
| Disease | hereditary coproporphyria |
| Case | (Waiting for update.) |