eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital ichthyosiform erythroderma | ||||
| Disease ID | 1016 |
|---|---|
| Disease | congenital ichthyosiform erythroderma |
| Definition | Designation for several severe forms of ichthyosis, present at birth, that are characterized by hyperkeratotic scaling. Infants may be born encased in a collodion membrane which begins shedding within 24 hours. This is followed in about two weeks by persistent generalized scaling. The forms include bullous (HYPERKERATOSIS, EPIDERMOLYTIC), non-bullous (ICHTHYOSIS, LAMELLAR), wet type, and dry type. |
| Synonym | alligator skin congen ichthyosiform erythroderma congenital ichthyosiform erythroderma (disorder) congenital ichthyosiform erythrodermas erythroderma congen ichthyosiform erythroderma ichthyosiform erythroderma, congenital ichthyosiform erythrodermas, congenital ichthyosiform ichthyosiform dermatosis ichthyosiform erythroderma ichthyosiform erythroderma (disorder) ichthyosiform erythroderma congen ichthyosiform erythroderma, congenital ichthyosiform erythroderma, congenital [disease/finding] ichthyosiform erythrodermas, congenital |
| DOID | |
| UMLS | C0079583 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0025202 | melanoma | 1 C0155550 | neural deafness | 1 C0346054 | verruciform xanthoma | 1 C0018784 | sensorineural deafness | 1 C0022596 | palmoplantar keratoderma | 1 C0008445 | chondrodysplasia punctata | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:7) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:38) 19 | ABCA1 | 1.848 | DISEASES 24 | ABCA4 | 1.799 | DISEASES 9619 | ABCG1 | 1.974 | DISEASES 51099 | ABHD5 | 5.046 | DISEASES 224 | ALDH3A2 | 2.574 | DISEASES 226 | ALDOA | 1.813 | DISEASES 247 | ALOX15B | 3.447 | DISEASES 280 | AMY2B | 2.327 | DISEASES 347527 | ARSH | 1.69 | DISEASES 488 | ATP2A2 | 2.898 | DISEASES 1069 | CETN2 | 2.473 | DISEASES 1382 | CRABP2 | 1.549 | DISEASES 285440 | CYP4V2 | 1.476 | DISEASES 1718 | DHCR24 | 3.495 | DISEASES 10682 | EBP | 4.327 | DISEASES 2312 | FLG | 4.329 | DISEASES 2706 | GJB2 | 2.282 | DISEASES 2707 | GJB3 | 2.478 | DISEASES 127534 | GJB4 | 3.698 | DISEASES 29949 | IL19 | 1.552 | DISEASES 386653 | IL31 | 1.296 | DISEASES 3713 | IVL | 4.465 | DISEASES 5650 | KLK7 | 1.55 | DISEASES 3851 | KRT4 | 2.686 | DISEASES 643418 | LIPN | 2.379 | DISEASES 4014 | LOR | 5.18 | DISEASES 4536 | MT-ND2 | 1.452 | DISEASES 123606 | NIPA1 | 2.009 | DISEASES 50814 | NSDHL | 4.719 | DISEASES 285848 | PNPLA1 | 4.918 | DISEASES 57104 | PNPLA2 | 2.864 | DISEASES 5537 | PPP6C | 1.66 | DISEASES 6590 | SLPI | 1.138 | DISEASES 11005 | SPINK5 | 4.885 | DISEASES 7062 | TCHH | 1.293 | DISEASES 7052 | TGM2 | 1.156 | DISEASES 7053 | TGM3 | 2.438 | DISEASES 134430 | WDR36 | 1.806 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1016 |
|---|---|
| Disease | congenital ichthyosiform erythroderma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) |
| Disease ID | 1016 |
|---|---|
| Disease | congenital ichthyosiform erythroderma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs35312232 | 16133457 | 7051 | TGM1 | umls:C0079583 | BeFree | These studies extend our prior work on TGM1-deficient LI to the full spectrum of TGM1-deficient patients, showing that the CIE phenotype, when attributable to a V518M heterozygous mutation in TGM1 in combination with an inactive allele, confers a cross-linking deficiency in a variety of keratinizing epithelia, as previously shown for TGM1-negative LI. | 0.00554839 | 2005 | TGM1 | 14 | 24255457 | 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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1016 |
|---|---|
| Disease | congenital ichthyosiform erythroderma |
| Case | (Waiting for update.) |