eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| lipoid proteinosis | ||||
| Disease ID | 308 |
|---|---|
| Disease | lipoid proteinosis |
| Definition | An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN. |
| Synonym | hyalinosis cutis et mucosae lipid proteinosis lipid proteinosis (disorder) lipoid proteinosis (disorder) lipoid proteinosis of urbach and wiethe lipoid proteinosis of urbach and wiethe [disease/finding] lipoid proteinosis urbach and wiethe lipoid proteinosis, urbach-wiethe lipoidosis cutis et mucosae lipoidproteinosis lipoproteinosis proteinosis, lipoid urbach wiethe dis urbach wiethe disease urbach wiethe lipoid proteinosis urbach wiethe syndrome urbach-wiethe disease urbach-wiethe lipoid proteinosis urbach-wiethe syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0023795 |
| 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:12) 1893 | ECM1 | 8.137 | DISEASES 2202 | EFEMP1 | 2.261 | DISEASES 23065 | EMC1 | 4.104 | DISEASES 2192 | FBLN1 | 2.468 | DISEASES 2200 | FBN1 | 1.524 | DISEASES 2316 | FLNA | 1.181 | DISEASES 3039 | HBA1 | 1.292 | DISEASES 3339 | HSPG2 | 3.299 | DISEASES 3713 | IVL | 1.414 | DISEASES 4318 | MMP9 | 1.419 | DISEASES 5498 | PPOX | 2.397 | DISEASES 147138 | TMC8 | 2.928 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) ECM1 | 1q21.2 |
| Disease ID | 308 |
|---|---|
| Disease | lipoid proteinosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:23) HP:0001061 | Acne HP:0002015 | Dysphagia HP:0001482 | Subcutaneous nodule HP:0000218 | High palate HP:0200043 | Verrucae HP:0002205 | Recurrent respiratory infections HP:0001332 | Dystonia HP:0008066 | Abnormal blistering of the skin HP:0001609 | Hoarse voice HP:0200115 | Scalp hair loss HP:0000962 | Hyperkeratosis HP:0001250 | Seizures HP:0100582 | Nasal polyposis HP:0002514 | Cerebral calcification HP:0011830 | Abnormality of oral mucosa HP:0000168 | Abnormality of the gingiva HP:0000179 | Thick lower lip vermilion HP:0000199 | Tongue nodules HP:0001072 | Thickened skin HP:0000171 | Microglossia HP:0200034 | Papule HP:0200039 | Pustule HP:0100699 | Scarring |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 308 |
|---|---|
| Disease | lipoid proteinosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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 |
| rs121909114 | NA | 1893 | ECM1 | umls:C0023795 | CLINVAR | NA | 0.485971721 | NA | ECM1;LOC105371435 | 1 | 150511784 | C | T |
| rs121909115 | NA | 1893 | ECM1 | umls:C0023795 | CLINVAR | NA | 0.485971721 | NA | ECM1;LOC105371435 | 1 | 150509696 | C | T |
| rs121909116 | NA | 1893 | ECM1 | umls:C0023795 | CLINVAR | NA | 0.485971721 | NA | ECM1;LOC105371435 | 1 | 150510989 | T | A |
| rs121917834 | 21707890 | 6440 | SFTPC | umls:C0023795 | BeFree | We reported previously that unlike the BRICHOS misfolding SFTPC mutants, expression of hSP-C(I73T) induces lung remodeling and alveolar lipoproteinosis without a substantial Endoplasmic Reticulum (ER) stress response or ER-mediated intrinsic apoptosis. | 0.000271442 | 2011 | SFTPC | 8 | 22163096 | T | A,C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001072 | Thickened skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0000179 | Thick lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0008066 | Abnormal blistering of the skin | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0000168 | Abnormality of the gingiva | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
Mapped by homologous gene(Total Items:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200043 | Verrucae | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001609 | Hoarse voice | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| HP:0001072 | Thickened skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100582 | Nasal polyposis | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001061 | Acne | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100699 | Scarring | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000171 | Microglossia | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0011830 | Abnormality of oral mucosa | MP:0002169 | no abnormal phenotype detected | normal viability, fertility, appearance and behavior; reported phenotype is indistinguishable from controls |
| HP:0008066 | Abnormal blistering of the skin | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000168 | Abnormality of the gingiva | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0001332 | Dystonia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000199 | Tongue nodules | MP:0011261 | abnormal limb mesenchyme morphology | any structural anomaly in the primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tiss |
| HP:0200039 | Pustule | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0002514 | Cerebral calcification | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000179 | Thick lower lip vermilion | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0200034 | Papule | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| Disease ID | 308 |
|---|---|
| Disease | lipoid proteinosis |
| Case | (Waiting for update.) |