eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ichthyosis, lamellar | ||||
| Disease ID | 869 |
|---|---|
| Disease | ichthyosis, lamellar |
| Definition | A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate. |
| Synonym | collodion baby congen nonbullous ichthyosiform erythroderma congenital ichthyosiform erythroderma, nonbullous congenital lamellar ichthyosis congenital non bullous ichthyosiform erythroderma congenital non bullous ichthyosiform erythroderma (disorder) congenital non-bullous ichthyosis congenital nonbullous ichthyosiform erythroderma erythroderma ichthyosiforme, nonbullous erythroderma ichthyosiformes, nonbullous ichthyose, lamellar ichthyoses, lamellar ichthyosiform erythroderma nonbullous congen ichthyosiform erythroderma, nonbullous congenital ichthyosiforme, nonbullous erythroderma ichthyosiformes, nonbullous erythroderma ichthyosis lamellar ichthyosis lammellaris ichthyosis, congenital ichthyosis, congenital, nonblistering ichthyosis, lamellar [disease/finding] lamellar desquamation of the newborn lamellar ichthyose lamellar ichthyoses lamellar ichthyosis lamellar ichthyosis (disorder) nonbullous congen ichthyosiform erythroderma nonbullous congenital ichthyosiform erythroderma nonbullous congenital ichthyosis nonbullous congenital lamellar ichthyosis nonbullous erythroderma ichthyosiforme nonbullous erythroderma ichthyosiformes |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0079154 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0013592 | ectropion | 3 C0020676 | hypothyroidism | 2 C0035579 | rickets | 1 C0011334 | caries | 1 C0010308 | congenital hypothyroidism | 1 C0017601 | glaucoma | 1 C0017612 | open-angle glaucoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:12) 3858 | KRT10 | UNIPROT 126410 | CYP4F22 | ORPHANET;UNIPROT 285848 | PNPLA1 | ORPHANET 3848 | KRT1 | UNIPROT 242 | ALOX12B | CTD_human;ORPHANET;UNIPROT 204219 | CERS3 | ORPHANET 26154 | ABCA12 | CTD_human;ORPHANET;UNIPROT 51099 | ABHD5 | UNIPROT 643418 | LIPN | ORPHANET 7051 | TGM1 | CTD_human;ORPHANET;UNIPROT 348938 | NIPAL4 | ORPHANET 59344 | ALOXE3 | CTD_human;ORPHANET;UNIPROT |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 869 |
|---|---|
| Disease | ichthyosis, lamellar |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0000656 | Ectropion | 3 HP:0000821 | Underactive thyroid | 2 HP:0002748 | Rickets | 2 HP:0030731 | Carcinoma | 1 HP:0100583 | Corneal perforation | 1 HP:0000501 | Glaucoma | 1 HP:0000851 | Congenital hypothyroidism | 1 HP:0001999 | Facial dysmorphism | 1 HP:0002857 | Genu valgum | 1 HP:0000670 | Dental caries | 1 |
| Disease ID | 869 |
|---|---|
| Disease | ichthyosis, lamellar |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918716 | 22386491 | 7051 | TGM1 | umls:C0079154 | BeFree | The approach was applied to detect the mutation sites, Arg142Cys and Gly529Ile, of transglutaminase 1 gene in autosomal recessive congenital ichthyosis. | 0.258120592 | 2012 | TGM1 | 14 | 24261779 | G | A |
| rs121918718 | 19278426 | 7051 | TGM1 | umls:C0079154 | BeFree | Because of evidences that transglutaminase enzymes are involved in programmed cell death, we investigated morphological and biochemical apoptotic parameters in cultured skin fibroblasts from a patient with a severe LI and homozygous for the TGM1 R142H mutation. | 0.258120592 | 2009 | TGM1 | 14 | 24261778 | C | T |
| rs318240748 | 25180191 | 7051 | TGM1 | umls:C0079154 | BeFree | Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. | 0.258120592 | 2014 | TGM1 | 14 | 24260459 | A | C |
| rs35312232 | 16133457 | 7051 | TGM1 | umls:C0079154 | 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. | 0.258120592 | 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) |
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| (Waiting for update.) |
| Disease ID | 869 |
|---|---|
| Disease | ichthyosis, lamellar |
| Case | (Waiting for update.) |