eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| erythroderma desquamativum | ||||
| Disease ID | 644 |
|---|---|
| Disease | erythroderma desquamativum |
| Definition | A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections. |
| Synonym | c5 deficiency c5d complement 5 dysfunction complement 5 dysfunction (disorder) complement 5 dysfunction [ambiguous] complement component 5 deficiency dysfunction of the fifth component of complement (c5) generalised seborrhoeic dermatitis of infants generalized seborrheic dermatitis of infants generalized seborrheic dermatitis of infants (disorder) infantile seborrheic dermatitis infantile seborrheic dermatitis (disorder) infantile seborrheic dermatitis nos infantile seborrheic dermatitis nos (disorder) infantile seborrhoeic dermatitis infantile seborrhoeic dermatitis (disorder) infantile seborrhoeic dermatitis nos leiner disease leiner's disease sbrheic infantl drmtitis seborrheic infantile dermatitis |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0343047 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences: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:16) 720 | C4A | 1.841 | DISEASES 721 | C4B | 1.784 | DISEASES 728 | C5AR1 | 4.356 | DISEASES 629 | CFB | 2.013 | DISEASES 3075 | CFH | 1.382 | DISEASES 1378 | CR1 | 1.751 | DISEASES 8337 | HIST2H2AA3 | 2.052 | DISEASES 8338 | HIST2H2AC | 2.052 | DISEASES 8349 | HIST2H2BE | 2.628 | DISEASES 3240 | HP | 1.039 | DISEASES 4878 | NPPA | 1.704 | DISEASES 4879 | NPPB | 1.364 | DISEASES 9971 | NR1H4 | 2.135 | DISEASES 5155 | PDGFB | 1.518 | DISEASES 51109 | RDH11 | 2.527 | DISEASES 7124 | TNF | 1.362 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 644 |
|---|---|
| Disease | erythroderma desquamativum |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0001051 | Seborrheic dermatitis HP:0002014 | Diarrhea HP:0001508 | Failure to thrive HP:0010978 | Abnormality of immune system physiology |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 644 |
|---|---|
| Disease | erythroderma desquamativum |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0020639 | hypoproteinemia |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909587 | NA | 727 | C5 | umls:C0343047 | CLINVAR | NA | 0.24 | NA | C5 | 9 | 121050192 | G | A |
| rs121909588 | NA | 727 | C5 | umls:C0343047 | CLINVAR | NA | 0.24 | NA | C5 | 9 | 120962749 | G | A |
| rs387906554 | NA | 727 | C5 | umls:C0343047 | CLINVAR | NA | 0.24 | NA | C5 | 9 | 120953758 | GG | C |
| rs587776846 | NA | 727 | C5 | umls:C0343047 | CLINVAR | NA | 0.24 | NA | C5 | 9 | 121023405 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0010978 | Abnormality of immune system physiology | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
Mapped by homologous gene(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0010978 | Abnormality of immune system physiology | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001051 | Seborrheic dermatitis | MP:0013174 | pharynx stenosis | abnormal narrowing or constriction of the passage between the mouth and the posterior nares and the larynx and esophagus |
| Disease ID | 644 |
|---|---|
| Disease | erythroderma desquamativum |
| Case | (Waiting for update.) |