eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital erythropoietic porphyria | ||||
| Disease ID | 636 |
|---|---|
| Disease | congenital erythropoietic porphyria |
| Definition | An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS. |
| Synonym | cep cep - congenital erythropoietic porphyria congen erythropoietic porphyria congenital erythropoietic porphyria (disorder) congenital erythropoietic porphyrias congenital photosensitive porphyria congenital porphyria congenital porphyria (disorder) erythropoietic porphyria erythropoietic porphyria (disorder) erythropoietic porphyria, congenital erythropoietic porphyria, nos erythropoietic porphyrias erythropoietic porphyrias, congenital erythropoietic uroporphyria gunther dis gunther disease gunther's disease gunthers dis gunthers disease haematoporphyria congenita hematoporphyria congenita porphyria erythropoietic congen porphyria erythropoietica porphyria, congenital erythropoietic porphyria, erythropoietic porphyria, erythropoietic [disease/finding] porphyria, erythropoietic, congenital porphyria, photosensitive, congenital porphyrias, congenital erythropoietic porphyrias, erythropoietic uroporphyria, erythropoietic |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0162530 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 636 |
|---|---|
| Disease | congenital erythropoietic porphyria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:22) HP:0001155 | Abnormality of the hand HP:0012086 | Abnormal urinary color HP:0001000 | Abnormality of skin pigmentation HP:0000987 | Atypical scarring of skin HP:0001873 | Thrombocytopenia HP:0010472 | Abnormality of the heme biosynthetic pathway HP:0001790 | Nonimmune hydrops fetalis HP:0008066 | Abnormal blistering of the skin HP:0001878 | Hemolytic anemia HP:0000656 | Ectropion HP:0002757 | Recurrent fractures HP:0000938 | Osteopenia HP:0000498 | Blepharitis HP:0001760 | Abnormality of the foot HP:0000495 | Recurrent corneal erosions HP:0000998 | Hypertrichosis HP:0001744 | Splenomegaly HP:0002721 | Immunodeficiency HP:0000992 | Cutaneous photosensitivity HP:0001072 | Thickened skin HP:0001096 | Keratoconjunctivitis HP:0001581 | Recurrent skin infections |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 636 |
|---|---|
| Disease | congenital erythropoietic porphyria |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0264009 | osteodystrophy |
| 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:25) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908012 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125815061 | A | G |
| rs121908012 | 12060141 | 7390 | UROS | umls:C0162530 | UNIPROT | Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene. | 0.574939234 | 2002 | UROS | 10 | 125815061 | A | G |
| rs121908013 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125815120 | G | A |
| rs121908014 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125788983 | G | A |
| rs121908015 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125816490 | G | A |
| rs121908016 | 7860775 | 7390 | UROS | umls:C0162530 | UNIPROT | Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene. | 0.574939234 | 1995 | UROS | 10 | 125815034 | C | A |
| rs121908016 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125815034 | C | A |
| rs121908017 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125794978 | C | T,A |
| rs121908018 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125815035 | T | A |
| rs121908020 | 7860775 | 7390 | UROS | umls:C0162530 | UNIPROT | Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene. | 0.574939234 | 1995 | UROS | 10 | 125788993 | C | T |
| rs121908020 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125788993 | C | T |
| rs121908021 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125788923 | G | T |
| rs28941774 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125815081 | G | A |
| rs28941774 | 1737856 | 7390 | UROS | umls:C0162530 | UNIPROT | Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. | 0.574939234 | 1992 | UROS | 10 | 125815081 | G | A |
| rs28941775 | 1737856 | 7390 | UROS | umls:C0162530 | UNIPROT | Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. | 0.574939234 | 1992 | UROS | 10 | 125815094 | T | C |
| rs28941775 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125815094 | T | C |
| rs373864821 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125816436 | C | T |
| rs387907207 | 25251786 | 2623 | GATA1 | umls:C0162530 | BeFree | Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis. | 0.121085767 | 2014 | GATA1 | X | 48792370 | C | T |
| rs397515348 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125816702 | A | G |
| rs397515349 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125816708 | C | T |
| rs397515350 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125816718 | G | T |
| rs397515351 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125816722 | G | T |
| rs397515527 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125816185 | A | G |
| rs397515528 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125812222 | G | A |
| rs796051859 | NA | 7390 | UROS | umls:C0162530 | CLINVAR | NA | 0.574939234 | NA | UROS | 10 | 125798142 | - | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001072 | Thickened skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0000987 | Atypical scarring of skin | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0001581 | Recurrent skin infections | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| 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:0001155 | Abnormality of the hand | MP:0010465 | aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
| 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: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:0000495 | Recurrent corneal erosions | MP:0005544 | corneal deposits | accumulation of minerals, proteins, or other anomalous substances on the cornea |
| HP:0001790 | Nonimmune hydrops fetalis | MP:0002192 | hydrops fetalis | an abnormal accumulation of serous fluid in fetal tissues |
| HP:0001760 | Abnormality of the foot | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| 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 |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
Mapped by homologous gene(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000495 | Recurrent corneal erosions | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0000998 | Hypertrichosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001155 | Abnormality of the hand | 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:0000987 | Atypical scarring of skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002721 | Immunodeficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000992 | Cutaneous photosensitivity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001581 | Recurrent skin infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000498 | Blepharitis | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001760 | Abnormality of the foot | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000938 | Osteopenia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001096 | Keratoconjunctivitis | 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:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001072 | Thickened skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0001790 | Nonimmune hydrops fetalis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000656 | Ectropion | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 636 |
|---|---|
| Disease | congenital erythropoietic porphyria |
| Case | (Waiting for update.) |