eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ichthyosis bullosa of siemens | ||||
| Disease ID | 1307 |
|---|---|
| Disease | ichthyosis bullosa of siemens |
| Definition | An autosomal dominant form of ichthyosis characterized by generalized reddening of the skin (ERYTHEMA) and widespread blistering. The disease shows similar, but somewhat milder, clinical and histopathological findings to those in HYPERKERATOSIS, EPIDERMOLYTIC and is associated with the gene that encodes KERATIN-2A. |
| Synonym | bullous type ichthyoses bullous type ichthyosis bullous type of ichthyosis ichthyoses, bullous type ichthyosis bullosa of siemens (disorder) ichthyosis bullosa of siemens [disease/finding] ichthyosis bullous type ichthyosis, bullous type ichthyosis, bullous type of siemens siemens ichthyosis bullosa |
| Orphanet | |
| OMIM | |
| UMLS | C0432306 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:7) |
| Locus | (Waiting for update.) |
| Disease ID | 1307 |
|---|---|
| Disease | ichthyosis bullosa of siemens |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0007475 | Epidermolytic hyperkeratosis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1307 |
|---|---|
| Disease | ichthyosis bullosa of siemens |
| 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:36) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137852628 | NA | 3849 | KRT2 | umls:C0432306 | CLINVAR | NA | 0.48434307 | NA | KRT2 | 12 | 52646748 | C | T,A |
| rs137852629 | NA | 3849 | KRT2 | umls:C0432306 | CLINVAR | NA | 0.48434307 | NA | KRT2 | 12 | 52646750 | C | T |
| rs137852630 | NA | 3849 | KRT2 | umls:C0432306 | CLINVAR | NA | 0.48434307 | NA | KRT2 | 12 | 52646774 | T | G |
| rs137852631 | NA | 3849 | KRT2 | umls:C0432306 | CLINVAR | NA | 0.48434307 | NA | KRT2 | 12 | 52651587 | T | C,A |
| rs137852632 | NA | 3849 | KRT2 | umls:C0432306 | CLINVAR | NA | 0.48434307 | NA | KRT2 | 12 | 52651585 | G | T |
| rs137854608 | 19056759 | 6331 | SCN5A | umls:C0432306 | BeFree | In conclusion, the G298S-SCN5A missense mutation caused a marked reduction of whole cell Na(+) current and loss of function of Na(v)1.5, suggesting SCN5A as a candidate gene in the pathophysiology of IBS. | 0.000542884 | 2009 | SCN5A | 3 | 38609776 | C | T |
| rs1464510 | 24041540 | 3559 | IL2RA | umls:C0432306 | BeFree | Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), one SNP in a neuronal gene (rs2349775-NXPH1) and two SNPs in epithelial genes (rs245051-SLC26A2, rs17837965-CDC42) were weakly associated with total-IBS (Puncorrected<0.05). | 0.000271442 | 2014 | LPP | 3 | 188394766 | C | T,A |
| rs17837965 | 24041540 | 3559 | IL2RA | umls:C0432306 | BeFree | Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), one SNP in a neuronal gene (rs2349775-NXPH1) and two SNPs in epithelial genes (rs245051-SLC26A2, rs17837965-CDC42) were weakly associated with total-IBS (Puncorrected<0.05). | 0.000271442 | 2014 | CDC42 | 1 | 22068132 | A | G |
| rs1800532 | 23172723 | 7166 | TPH1 | umls:C0432306 | BeFree | However, TPH1 gene SNPs were associated with IBS-related cognitions (rs4537731 and rs21105) and quality of life (rs684302 and rs1800532), in particular the mental health and energy subscales. | 0.001357209 | 2014 | TPH1 | 11 | 18026269 | G | T |
| rs1800870 | 24409078 | 3586 | IL10 | umls:C0432306 | BeFree | The results suggest that IL-10 rs1800870 confers susceptibility to the risk of IBS in Caucasian ethnicity, and the rs1800872 may associate with IBS risk in Asians. | 0.002442977 | 2013 | ALDH3A2 | 17 | 19649164 | C | T |
| rs1800872 | 24409078 | 3586 | IL10 | umls:C0432306 | BeFree | The results suggest that IL-10 rs1800870 confers susceptibility to the risk of IBS in Caucasian ethnicity, and the rs1800872 may associate with IBS risk in Asians. | 0.002442977 | 2013 | IL10 | 1 | 206773062 | T | G |
| rs1881457 | 24041540 | 3559 | IL2RA | umls:C0432306 | BeFree | Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), one SNP in a neuronal gene (rs2349775-NXPH1) and two SNPs in epithelial genes (rs245051-SLC26A2, rs17837965-CDC42) were weakly associated with total-IBS (Puncorrected<0.05). | 0.000271442 | 2014 | IL13;LOC101927761 | 5 | 132656717 | A | C |
| rs2104286 | 24041540 | 3559 | IL2RA | umls:C0432306 | BeFree | Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), one SNP in a neuronal gene (rs2349775-NXPH1) and two SNPs in epithelial genes (rs245051-SLC26A2, rs17837965-CDC42) were weakly associated with total-IBS (Puncorrected<0.05). | 0.000271442 | 2014 | IL2RA | 10 | 6057082 | T | C |
| rs21105 | 23172723 | 7166 | TPH1 | umls:C0432306 | BeFree | However, TPH1 gene SNPs were associated with IBS-related cognitions (rs4537731 and rs21105) and quality of life (rs684302 and rs1800532), in particular the mental health and energy subscales. | 0.001357209 | 2014 | NA | NA | NA | NA | NA |
| rs2349775 | 24041540 | 3559 | IL2RA | umls:C0432306 | BeFree | Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), one SNP in a neuronal gene (rs2349775-NXPH1) and two SNPs in epithelial genes (rs245051-SLC26A2, rs17837965-CDC42) were weakly associated with total-IBS (Puncorrected<0.05). | 0.000271442 | 2014 | NXPH1 | 7 | 8678450 | G | A |
| rs245051 | 24041540 | 3559 | IL2RA | umls:C0432306 | BeFree | Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), one SNP in a neuronal gene (rs2349775-NXPH1) and two SNPs in epithelial genes (rs245051-SLC26A2, rs17837965-CDC42) were weakly associated with total-IBS (Puncorrected<0.05). | 0.000271442 | 2014 | SLC26A2 | 5 | 149966412 | A | G |
| rs386602276 | 15232358 | 3356 | HTR2A | umls:C0432306 | BeFree | This study suggests that the patients with homozygote C allele of the 102 T/C polymorphisms or homozygote A allele of the -1438 G/A polymorphism of the 5-HT2A receptor gene, have a high risk of IBS. | 0.000542884 | 2004 | NA | NA | NA | NA | NA |
| rs4537731 | 23172723 | 7166 | TPH1 | umls:C0432306 | BeFree | However, TPH1 gene SNPs were associated with IBS-related cognitions (rs4537731 and rs21105) and quality of life (rs684302 and rs1800532), in particular the mental health and energy subscales. | 0.001357209 | 2014 | NA | 11 | 18047335 | T | C |
| rs4680 | 23110189 | 1312 | COMT | umls:C0432306 | BeFree | In a regression model, the number of methionine alleles in COMT val158met was linearly related to placebo response as measured by changes in IBS-SSS (p = .035). | 0.001085767 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 21437260 | 1312 | COMT | umls:C0432306 | BeFree | In this study we found an association between the val/val genotype of the val158met COMT gene and IBS as well as to specific IBS related bowel pattern in IBS patients. | 0.001085767 | 2011 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs5443 | 19034965 | 2784 | GNB3 | umls:C0432306 | BeFree | Whereas no specific gene has been identified in association with IBS, recent studies have noticed the importance of polymorphisms in the promoter region of the serotonin reuptake transporter gene, G-protein beta 3 subunit gene (C825T), cholecystokinin receptor (CCKAR gene 779T>C), and high-producer tumor necrosis factor genotype. | 0.000814326 | 2008 | GNB3;CDCA3 | 12 | 6845711 | C | T |
| rs56829062 | 9804344 | 3849 | KRT2 | umls:C0432306 | UNIPROT | Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens. | 0.48434307 | 1998 | KRT2 | 12 | 52646783 | C | T |
| rs56829062 | NA | 3849 | KRT2 | umls:C0432306 | CLINVAR | NA | 0.48434307 | NA | KRT2 | 12 | 52646783 | C | T |
| rs57510142 | NA | 3849 | KRT2 | umls:C0432306 | CLINVAR | NA | 0.48434307 | NA | KRT2 | 12 | 52651601 | T | G,A |
| rs60537449 | 10564334 | 3849 | KRT2 | umls:C0432306 | UNIPROT | Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene. | 0.48434307 | 1999 | KRT2 | 12 | 52646782 | T | A |
| rs61622714 | 10084318 | 3849 | KRT2 | umls:C0432306 | UNIPROT | A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens. | 0.48434307 | 1999 | KRT2 | 12 | 52651598 | A | T |
| rs61726449 | 15949009 | 3849 | KRT2 | umls:C0432306 | UNIPROT | In the current literature, 19 IBS families with keratin 2e (K2e) mutations have been reported, despite only five IBS families having been reported before the first identification of K2e mutation in 1994. | 0.48434307 | 2005 | NA | NA | NA | NA | NA |
| rs61726450 | 7524919 | 3849 | KRT2 | umls:C0432306 | UNIPROT | Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. | 0.48434307 | 1994 | NA | NA | NA | NA | NA |
| rs61726451 | 15949009 | 3849 | KRT2 | umls:C0432306 | UNIPROT | In the current literature, 19 IBS families with keratin 2e (K2e) mutations have been reported, despite only five IBS families having been reported before the first identification of K2e mutation in 1994. | 0.48434307 | 2005 | KRT2 | 12 | 52646758 | A | G |
| rs61726452 | 9036938 | 3849 | KRT2 | umls:C0432306 | UNIPROT | A new keratin 2e mutation in ichthyosis bullosa of Siemens. | 0.48434307 | 1997 | KRT2 | 12 | 52646747 | C | T |
| rs61726453 | 9204966 | 3849 | KRT2 | umls:C0432306 | UNIPROT | A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens. | 0.48434307 | 1997 | NA | NA | NA | NA | NA |
| rs61726454 | 9804344 | 3849 | KRT2 | umls:C0432306 | UNIPROT | Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens. | 0.48434307 | 1998 | NA | NA | NA | NA | NA |
| rs61726457 | 11531804 | 3849 | KRT2 | umls:C0432306 | UNIPROT | New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. | 0.48434307 | 2001 | NA | NA | NA | NA | NA |
| rs6313 | 15232358 | 3356 | HTR2A | umls:C0432306 | BeFree | This study suggests that the patients with homozygote C allele of the 102 T/C polymorphisms or homozygote A allele of the -1438 G/A polymorphism of the 5-HT2A receptor gene, have a high risk of IBS. | 0.000542884 | 2004 | HTR2A | 13 | 46895805 | G | A |
| rs684302 | 23172723 | 7166 | TPH1 | umls:C0432306 | BeFree | However, TPH1 gene SNPs were associated with IBS-related cognitions (rs4537731 and rs21105) and quality of life (rs684302 and rs1800532), in particular the mental health and energy subscales. | 0.001357209 | 2014 | TPH1 | 11 | 18038806 | C | T |
| rs806378 | 21803011 | 56144 | PCDHA4 | umls:C0432306 | BeFree | CNR1 rs806378 (CC vs CT/TT) appeared to affect fasting proximal MI in all patients with IBS (P = .075). | 0.000814326 | 2011 | CNR1 | 6 | 88149832 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007475 | Congenital bullous ichthyosiform erythroderma | MP:0012515 | abnormal heart apex morphology | any structural anomaly of the lowest superficial part of the heart, normally directed downward, forward, and to the left, and overlapped by the left lung and pleura; the heart apex is formed by the inferolateral part of the left ventricle and responsible |
| Disease ID | 1307 |
|---|---|
| Disease | ichthyosis bullosa of siemens |
| Case | (Waiting for update.) |