eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| self-healing collodion baby | ||||
| Disease ID | 1663 |
|---|---|
| Disease | self-healing collodion baby |
| Definition | A minor variant of autosomal recessive congenital ichthyosis with manifestation of a collodion membrane at birth that heals within the first weeks of life. The exact prevalence is unknown. Approximately 25 cases have been reported in the literature. After the shedding of the membrane, patients present with mild scaling. Caused by mutations in the TGM1, ALOXE3 or ALOX12B genes encoding respectively transglutaminase 1, involved in the cornification of the stratum corneum, and arachidonate 3 and 12(R) lipoxygenases involved in lipid metabolism. Transmission is autosomal recessive. |
| Synonym | collodion baby, self-healing self-healing collodion baby (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C1855789 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 1663 |
|---|---|
| Disease | self-healing collodion baby |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1663 |
|---|---|
| Disease | self-healing collodion baby |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918724 | 12542526 | 7051 | TGM1 | umls:C1855789 | BeFree | In two self-healing collodion baby siblings with markedly diminished epidermal transglutaminase 1 activity we found the compound heterozygous transglutaminase 1 mutations G278R and D490G. | 0.000542884 | 2003 | TGM1 | 14 | 24256011 | T | C |
| rs121918725 | 12542526 | 7051 | TGM1 | umls:C1855789 | BeFree | In two self-healing collodion baby siblings with markedly diminished epidermal transglutaminase 1 activity we found the compound heterozygous transglutaminase 1 mutations G278R and D490G. | 0.000542884 | 2003 | TGM1 | 14 | 24259984 | 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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1663 |
|---|---|
| Disease | self-healing collodion baby |
| Case | (Waiting for update.) |