eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hepatoerythropoietic porphyria | ||||
| Disease ID | 266 |
|---|---|
| Disease | hepatoerythropoietic porphyria |
| Definition | A very rare form of porphyria cutanea tarda. It is characterized by deficiency of the enzyme uroporphyrinogen III. Signs and symptoms appear early in childhood and include extreme photosensitivity in the sun exposed areas of the skin with blistering and scar formation. |
| Synonym | erythrohepatic porphyria erythrohepatic porphyrias hep hepatoerythropoietic porphyrias homozygous porphyria cutanea tarda homozygous porphyria cutanea tarda (disorder) porphyria, erythrohepatic porphyria, hepatoerythropoietic porphyria, hepatoerythropoietic [disease/finding] porphyrias, erythrohepatic porphyrias, hepatoerythropoietic |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0162569 |
| MeSH | |
| SNOMED-CT | |
| 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) UROD | 1p34.1 |
| Disease ID | 266 |
|---|---|
| Disease | hepatoerythropoietic porphyria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 266 |
|---|---|
| Disease | hepatoerythropoietic porphyria |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| 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:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918057 | NA | 7389 | UROD | umls:C0162569 | CLINVAR | NA | 0.247057489 | NA | UROD | 1 | 45014803 | G | A,T |
| rs121918057 | 7706766 | 7389 | UROD | umls:C0162569 | BeFree | A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients. | 0.247057489 | 1995 | UROD | 1 | 45014803 | G | A,T |
| rs121918058 | NA | 7389 | UROD | umls:C0162569 | CLINVAR | NA | 0.247057489 | NA | UROD | 1 | 45013933 | G | A |
| rs121918059 | 1634232 | 7389 | UROD | umls:C0162569 | BeFree | Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. | 0.247057489 | 1992 | UROD | 1 | 45014835 | C | G,T |
| rs121918059 | NA | 7389 | UROD | umls:C0162569 | CLINVAR | NA | 0.247057489 | NA | UROD | 1 | 45014835 | C | G,T |
| rs121918060 | NA | 7389 | UROD | umls:C0162569 | CLINVAR | NA | 0.247057489 | NA | UROD;HECTD3 | 1 | 45013187 | C | T |
| rs121918061 | NA | 7389 | UROD | umls:C0162569 | CLINVAR | NA | 0.247057489 | NA | UROD | 1 | 45014996 | A | G |
GWASdb Annotation(Total Genotypes:3) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
| 7 | 142554278 | rs7779406 | NM_004445,EPHB6 | ENST00000436299,ENSG00000106123 | ENST00000222847,ENSG00000106123 | ENST00000392957,ENSG00000106123 | ENST00000442129,ENSG00000106123 | ENST00000497095,ENSG00000106123 | ENST00000466783,ENSG00000106123 | ENST00000425995,ENSG00000106123 | NA | NA | NA | NA | Su(H),35.7523 | Spz1,1.4555 | SGCGSSAAA,18.3825 | YNTTTNNNANGCARM,2.2237 | GC-box,1.9777 | NA | NA | NA | NA | NA | NA | 0.000 | -3.084 | -10 | GM1 | G | NA | NA | NA | 0.120 | 0.010 | 0.100 | 0.360 |
| 7 | 142554845 | rs8177113 | NM_004445,EPHB6 | ENST00000436299,ENSG00000106123 | ENST00000222847,ENSG00000106123 | ENST00000392957,ENSG00000106123 | ENST00000442129,ENSG00000106123 | ENST00000497095,ENSG00000106123 | ENST00000466783,ENSG00000106123 | ENST00000425995,ENSG00000106123 | TFP.EGR1 | TFP.HDAC2 | CHMM | MCV-10 | NA | NA | NA | Asg1-DBD-primary,7.6101 | Bas1-primary,1.5208 | Cbf1-primary,2.5777 | Fhl1-DBD-primary,1.7447 | Hal9-primary,1.3319 | NA | NA | NA | NA | NA | NA | 0.000 | -1.574 | -6.36 | GM1 | C | NA | NA | NA | NA |
| 7 | 142560701 | rs6950043 | NM_004445,EPHB6 | ENST00000436299,ENSG00000106123 | ENST00000222847,ENSG00000106123 | ENST00000392957,ENSG00000106123 | ENST00000442129,ENSG00000106123 | ENST00000497095,ENSG00000106123 | ENST00000466783,ENSG00000106123 | ENST00000425995,ENSG00000106123 | ENST00000411471,ENSG00000106123 | ENST00000422643,ENSG00000106123 | MCV-5 | NA | NA | ENSG00000106123.7,EPHB6,1.40E-09,Thyroid | Ceh-22,2.7623 | LM9,5.8708 | LM46,1.4674 | LM70,1.9975 | LM103,1.6454 | NA | NA | NA | NA | NA | NA | 0.000 | 0.396 | 1.82 | GM1 | G | NA | NA | NA | NA | NA |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| 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:0001878 | Hemolytic anemia | MP:0008388 | hypochromic microcytic anemia | hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001878 | Hemolytic anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000963 | Thin skin | 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 |
| Disease ID | 266 |
|---|---|
| Disease | hepatoerythropoietic porphyria |
| Case | (Waiting for update.) |