eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| irida syndrome | ||||
| Disease ID | 1455 |
|---|---|
| Disease | irida syndrome |
| Definition | A kind of anemia in which the volume of the red blood cells is reduced. [HPO:probinson] |
| Synonym | anemia microcytic anemia, hypochromic microcytic, with defect in iron metabolism anemias microcytic irida irida (iron-refractory iron deficiency anaemia) syndrome irida (iron-refractory iron deficiency anemia) syndrome iron-handling disorder, hereditary iron-refractory iron deficiency anaemia iron-refractory iron deficiency anemia iron-refractory iron deficiency anemia (disorder) microcytic anaemia microcytic anemia microcytic anemia (disorder) pseudo-iron-deficiency anemia |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0085576 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:15) C0039730 | thalassemia | 5 C0002871 | anemia | 3 C0022661 | chronic kidney disease | 1 C0022658 | kidney disease | 1 C0206669 | hepatic adenoma | 1 C0024530 | malaria | 1 C0282193 | iron overload | 1 C0002312 | alpha thalassemia | 1 C0040034 | thrombocytopenia | 1 C0002896 | sideroblastic anemia | 1 C0020676 | hypothyroid | 1 C0026986 | myelodysplastic syndrome | 1 C0041466 | typhoid | 1 C0039730 | thalassaemia | 1 C0041466 | typhoid fever | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:87) 94 | ACVRL1 | 1.22 | DISEASES 210 | ALAD | 1.985 | DISEASES 212 | ALAS2 | 4.207 | DISEASES 10189 | ALYREF | 1.098 | DISEASES 50650 | ARHGEF3 | 1.723 | DISEASES 29994 | BAZ2B | 1.386 | DISEASES 617 | BCS1L | 2.559 | DISEASES 712 | C1QA | 1.049 | DISEASES 716 | C1S | 1.681 | DISEASES 55799 | CACNA2D3 | 1.727 | DISEASES 147372 | CCBE1 | 1.713 | DISEASES 959 | CD40LG | 2.113 | DISEASES 966 | CD59 | 1.634 | DISEASES 1460 | CSNK2B | 1.325 | DISEASES 541466 | CT45A1 | 1.457 | DISEASES 728090 | CT47A2 | 3.095 | DISEASES 56259 | CTNNBL1 | 1.631 | DISEASES 11325 | DDX42 | 2.073 | DISEASES 9191 | DEDD | 1.71 | DISEASES 131118 | DNAJC19 | 1.633 | DISEASES 1879 | EBF1 | 1.382 | DISEASES 54898 | ELOVL2 | 1.296 | DISEASES 5169 | ENPP3 | 1.072 | DISEASES 255324 | EPGN | 2.059 | DISEASES 2152 | F3 | 2.076 | DISEASES 2235 | FECH | 2.426 | DISEASES 2242 | FES | 1.457 | DISEASES 388698 | FLG2 | 1.051 | DISEASES 53940 | FTHL17 | 2.186 | DISEASES 2512 | FTL | 1.465 | DISEASES 90480 | GADD45GIP1 | 1.822 | DISEASES 2520 | GAST | 2.642 | DISEASES 51738 | GHRL | 1.738 | DISEASES 55340 | GIMAP5 | 1.162 | DISEASES 56287 | GKN1 | 1.257 | DISEASES 2935 | GSPT1 | 1.664 | DISEASES 3039 | HBA1 | 1.498 | DISEASES 3043 | HBB | 4.491 | DISEASES 3045 | HBD | 3.674 | DISEASES 3047 | HBG1 | 3.023 | DISEASES 3042 | HBM | 2.865 | DISEASES 9843 | HEPH | 3.055 | DISEASES 3077 | HFE | 4.035 | DISEASES 148738 | HFE2 | 4.862 | DISEASES 3240 | HP | 2.51 | DISEASES 3400 | ID4 | 1.521 | DISEASES 55683 | KANSL3 | 1.326 | DISEASES 3767 | KCNJ11 | 2.621 | DISEASES 284252 | KCTD1 | 1.576 | DISEASES 3792 | KEL | 1.962 | DISEASES 85329 | LGALS12 | 2.056 | DISEASES 8825 | LIN7A | 2.255 | DISEASES 58530 | LY6G6D | 2.039 | DISEASES 28986 | MAGEH1 | 2.286 | DISEASES 4151 | MB | 2.149 | DISEASES 4152 | MBD1 | 1.007 | DISEASES 8972 | MGAM | 1.066 | DISEASES 10724 | MGEA5 | 1.749 | DISEASES 4357 | MPST | 1.274 | DISEASES 344148 | NCKAP5 | 2.105 | DISEASES 4698 | NDUFA5 | 2.792 | DISEASES 5094 | PCBP2 | 1.249 | DISEASES 5355 | PLP2 | 1.697 | DISEASES 5696 | PSMB8 | 1.919 | DISEASES 5979 | RET | 2.198 | DISEASES 6007 | RHD | 2.359 | DISEASES 6279 | S100A8 | 1.1 | DISEASES 6288 | SAA1 | 1.463 | DISEASES 5265 | SERPINA1 | 1.203 | DISEASES 59307 | SIGIRR | 1.045 | DISEASES 375484 | SIMC1 | 2.751 | DISEASES 4891 | SLC11A2 | 5.447 | DISEASES 6565 | SLC15A2 | 1.391 | DISEASES 1317 | SLC31A1 | 1.089 | DISEASES 83650 | SLC35G5 | 2.782 | DISEASES 4089 | SMAD4 | 1.373 | DISEASES 55240 | STEAP3 | 3.667 | DISEASES 54790 | TET2 | 3.301 | DISEASES 7018 | TF | 6.807 | DISEASES 7037 | TFRC | 6.104 | DISEASES 7052 | TGM2 | 3.641 | DISEASES 164656 | TMPRSS6 | 6.431 | DISEASES 7124 | TNF | 1.432 | DISEASES 1861 | TOR1A | 2.246 | DISEASES 7204 | TRIO | 1.444 | DISEASES 7321 | UBE2D1 | 2.18 | DISEASES 23038 | WDTC1 | 1.656 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) TMPRSS6 | 22q12.3 |
| Disease ID | 1455 |
|---|---|
| Disease | irida syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:10) HP:0000962 | Hyperkeratosis HP:0001406 | Intrahepatic cholestasis HP:0001891 | Iron-deficiency anemia HP:0002242 | Abnormality of the intestine HP:0009830 | Peripheral neuropathy HP:0004840 | Hypochromic microcytic anemia HP:0011967 | Hypocupremia HP:0000980 | Pallor HP:0008064 | Ichthyosis HP:0001249 | Intellectual disability |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0001903 | Anemia | 3 HP:0001924 | Hypersideremic anemia | 1 HP:0012028 | Hepatocellular adenoma | 1 HP:0001974 | Leukocytosis | 1 HP:0001945 | Fever | 1 HP:0010972 | Anemia of inadequate production | 1 HP:0003565 | Elevated sedimentation rate | 1 HP:0002863 | Myelodysplastic syndrome | 1 HP:0012378 | Fatigue | 1 HP:0011273 | Unequal size of red blood cells | 1 HP:0001873 | Low platelet count | 1 HP:0001923 | Reticulocytosis | 1 HP:0000212 | Gingival overgrowth | 1 HP:0012622 | Chronic kidney disease | 1 |
| Disease ID | 1455 |
|---|---|
| Disease | irida syndrome |
| Manually Symptom | (Waiting for update.) |
| 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:17) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918365 | 16023393 | 4891 | SLC11A2 | umls:C0085576 | BeFree | Functional characterization of the E399D DMT1/NRAMP2/SLC11A2 protein produced by an exon 12 mutation in a patient with microcytic anemia and iron overload. | 0.001628651 | 2005 | SLC11A2 | 12 | 50992810 | C | G |
| rs121918366 | 16584902 | 4891 | SLC11A2 | umls:C0085576 | BeFree | A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload. | 0.001628651 | 2006 | SLC11A2 | 12 | 50992291 | G | A |
| rs121918367 | 21871825 | 4891 | SLC11A2 | umls:C0085576 | BeFree | A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload. | 0.001628651 | 2011 | SLC11A2 | 12 | 50999214 | C | A |
| rs137853119 | NA | 164656 | TMPRSS6 | umls:C0085576 | CLINVAR | NA | 0.486243163 | NA | TMPRSS6 | 22 | 37075180 | C | T |
| rs137853119 | 23319530 | 164656 | TMPRSS6 | umls:C0085576 | BeFree | Whole exome sequencing identified in both patients compound heterozygous mutations of TMPRSS6 leading to p.G442R and p.E522K, 2 mutations previously reported to cause classic IRIDA, and no additional mutations in known iron-regulatory genes. | 0.486243163 | 2013 | TMPRSS6 | 22 | 37075180 | C | T |
| rs137853120 | 18408718 | 164656 | TMPRSS6 | umls:C0085576 | UNIPROT | Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). | 0.486243163 | 2008 | TMPRSS6 | 22 | 37073553 | C | T |
| rs137853120 | NA | 164656 | TMPRSS6 | umls:C0085576 | CLINVAR | NA | 0.486243163 | NA | TMPRSS6 | 22 | 37073553 | C | T |
| rs137853121 | NA | 164656 | TMPRSS6 | umls:C0085576 | CLINVAR | NA | 0.486243163 | NA | TMPRSS6 | 22 | 37084775 | G | T |
| rs137853122 | NA | 164656 | TMPRSS6 | umls:C0085576 | CLINVAR | NA | 0.486243163 | NA | TMPRSS6 | 22 | 37084339 | A | C |
| rs137853123 | NA | 164656 | TMPRSS6 | umls:C0085576 | CLINVAR | NA | 0.486243163 | NA | TMPRSS6 | 22 | 37070557 | G | A |
| rs267607121 | NA | 164656 | TMPRSS6 | umls:C0085576 | CLINVAR | NA | 0.486243163 | NA | TMPRSS6 | 22 | 37098426 | G | T |
| rs387907018 | NA | 164656 | TMPRSS6 | umls:C0085576 | CLINVAR | NA | 0.486243163 | NA | TMPRSS6 | 22 | 37073550 | C | T |
| rs387907018 | 23319530 | 164656 | TMPRSS6 | umls:C0085576 | BeFree | Whole exome sequencing identified in both patients compound heterozygous mutations of TMPRSS6 leading to p.G442R and p.E522K, 2 mutations previously reported to cause classic IRIDA, and no additional mutations in known iron-regulatory genes. | 0.486243163 | 2013 | TMPRSS6 | 22 | 37073550 | C | T |
| rs786205057 | NA | 164656 | TMPRSS6 | umls:C0085576 | CLINVAR | NA | 0.486243163 | NA | TMPRSS6 | 22 | 37070539 | C | - |
| rs786205058 | NA | 164656 | TMPRSS6 | umls:C0085576 | CLINVAR | NA | 0.486243163 | NA | TMPRSS6 | 22 | 37073531 | C | T |
| rs786205059 | NA | 164656 | TMPRSS6 | umls:C0085576 | CLINVAR | NA | 0.486243163 | NA | TMPRSS6 | 22 | 37069072 | C | G |
| rs786205060 | NA | 164656 | TMPRSS6 | umls:C0085576 | CLINVAR | NA | 0.486243163 | NA | TMPRSS6 | 22 | 37069154 | - | GGGG |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
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:0004840 | Hypochromic microcytic anemia | MP:0002810 | microcytic anemia | a reduction in the mean total mass of erythrocytes in which the remaining circulating erythrocyte corpuscular volume is smaller than normal; most commonly due to iron deficiency but also sickle cell disease and other conditions that result in hemoglobin s |
| HP:0001406 | Intrahepatic cholestasis | MP:0005415 | intrahepatic cholestasis | impairment of bile flow due to injury to the hepatocytes, bile canaliculi, or the intrahepatic bile ducts |
| HP:0002242 | Abnormality of the intestine | MP:0004497 | decreased organ of Corti supporting cell number | decreased number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti |
| HP:0001891 | Iron deficiency anemia | MP:0002810 | microcytic anemia | a reduction in the mean total mass of erythrocytes in which the remaining circulating erythrocyte corpuscular volume is smaller than normal; most commonly due to iron deficiency but also sickle cell disease and other conditions that result in hemoglobin s |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001891 | Iron deficiency anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001406 | Intrahepatic cholestasis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002242 | Abnormality of the intestine | MP:0013006 | abnormal enteric neural crest cell migration | any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal t |
| HP:0004840 | Hypochromic microcytic anemia | MP:0011101 | prenatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5) |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000980 | Pallor | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| Disease ID | 1455 |
|---|---|
| Disease | irida syndrome |
| Case | (Waiting for update.) |