eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| erythrokeratodermia variabilis | ||||
| Disease ID | 378 |
|---|---|
| Disease | erythrokeratodermia variabilis |
| Definition | An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. It has been associated with mutations in the genes that code for CONNEXINS. Erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. Affected individuals often develop PALMOPLANTAR KERATODERMA. |
| Synonym | ekv ekvp erythro et keratodermia variabilis erythrokeratoderma variabilis erythrokeratoderma variabilis (disorder) erythrokeratodermia figurata variabilis erythrokeratodermia figurata, congenital familial, in plaques erythrokeratodermia figurata, congenital familial, in plaqus erythrokeratodermia variabilis (disorder) erythrokeratodermia variabilis [disease/finding] erythrokeratodermia variabilis et progressiva erythrokeratodermia variabilis with erythema gyratum repens erythrokeratodermia, progressive symmetric mendes da costa syndrome mendes de costa syndrome progressive symmetric erythrokeratodermia psek |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265961 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:16) 224 | ALDH3A2 | 2.332 | DISEASES 1174 | AP1S1 | 1.927 | DISEASES 488 | ATP2A2 | 1.72 | DISEASES 6785 | ELOVL4 | 3.469 | DISEASES 2701 | GJA4 | 3.872 | DISEASES 2705 | GJB1 | 3.053 | DISEASES 2706 | GJB2 | 3.429 | DISEASES 2707 | GJB3 | 7.86 | DISEASES 127534 | GJB4 | 7.688 | DISEASES 2709 | GJB5 | 4.559 | DISEASES 349149 | GJC3 | 1.92 | DISEASES 3476 | IGBP1 | 2.466 | DISEASES 4014 | LOR | 3.998 | DISEASES 4146 | MATN1 | 2.562 | DISEASES 6164 | RPL34 | 2.832 | DISEASES 10166 | SLC25A15 | 2.574 | DISEASES |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 378 |
|---|---|
| Disease | erythrokeratodermia variabilis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:29) HP:0012733 | Macule HP:0000518 | Cataract HP:0004322 | Short stature HP:0000365 | Hearing impairment HP:0001824 | Weight loss HP:0008069 | Neoplasm of the skin HP:0001156 | Brachydactyly syndrome HP:0010783 | Erythema HP:0002564 | Malformation of the heart and great vessels HP:0008066 | Abnormal blistering of the skin HP:0000962 | Hyperkeratosis HP:0007957 | Corneal opacity HP:0005588 | Patchy palmoplantar keratoderma HP:0007400 | Irregular hyperpigmentation HP:0000252 | Microcephaly HP:0001182 | Tapered finger HP:0002230 | Generalized hirsutism HP:0001595 | Abnormality of the hair HP:0001249 | Intellectual disability HP:0000988 | Skin rash HP:0001597 | Abnormality of the nail HP:0000411 | Protruding ear HP:0001596 | Alopecia HP:0000958 | Dry skin HP:0000992 | Cutaneous photosensitivity HP:0000819 | Diabetes mellitus HP:0001034 | Hypermelanotic macule HP:0000501 | Glaucoma HP:0000035 | Abnormality of the testis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 378 |
|---|---|
| Disease | erythrokeratodermia variabilis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| GJB4 | NM_153212.2: c.238C>T, p.(Gln80*) | doi:10.1038/gim.2016.153 | A comprehensive strategy for exome-based preconception carrier screening |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:13) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs28937583 | NA | 2707 | GJB3 | umls:C0265961 | CLINVAR | NA | 0.564614512 | NA | GJB3;LOC105378643 | 1 | 34784863 | T | C |
| rs74315315 | NA | 2707 | GJB3 | umls:C0265961 | CLINVAR | NA | 0.564614512 | NA | GJB3;LOC105378643 | 1 | 34784796 | G | A,C |
| rs74315316 | 12702148 | 2707 | GJB3 | umls:C0265961 | BeFree | These mutations include G12D, which replaces a conserved glycine residue in the amino-terminus of Cx31 and is associated with a severe EKV phenotype. | 0.564614512 | 2003 | GJB3;LOC105378643 | 1 | 34784797 | G | A |
| rs74315316 | NA | 2707 | GJB3 | umls:C0265961 | CLINVAR | NA | 0.564614512 | NA | GJB3;LOC105378643 | 1 | 34784797 | G | A |
| rs74315317 | NA | 2707 | GJB3 | umls:C0265961 | CLINVAR | NA | 0.564614512 | NA | GJB3;LOC105378643 | 1 | 34785018 | T | A,C |
| rs74315321 | NA | 2707 | GJB3 | umls:C0265961 | CLINVAR | NA | 0.564614512 | NA | GJB3;LOC105378643 | 1 | 34784887 | G | A,C |
| rs794729675 | NA | 2697 | GJA1 | umls:C0265961 | CLINVAR | NA | 0.240542884 | NA | GJA1 | 6 | 121446978 | C | T |
| rs80358206 | NA | 127534 | GJB4 | umls:C0265961 | CLINVAR | NA | 0.482171535 | NA | GJB4;LOC105378643 | 1 | 34761665 | C | A,T |
| rs80358207 | NA | 127534 | GJB4 | umls:C0265961 | CLINVAR | NA | 0.482171535 | NA | GJB4;LOC105378643 | 1 | 34761663 | T | C |
| rs80358210 | NA | 127534 | GJB4 | umls:C0265961 | CLINVAR | NA | 0.482171535 | NA | GJB4;LOC105378643 | 1 | 34761507 | A | C |
| rs80358211 | NA | 127534 | GJB4 | umls:C0265961 | CLINVAR | NA | 0.482171535 | NA | GJB4;LOC105378643 | 1 | 34761289 | G | A |
| rs80358212 | NA | 127534 | GJB4 | umls:C0265961 | CLINVAR | NA | 0.482171535 | NA | GJB4;LOC105378643 | 1 | 34761319 | G | A,T |
| rs80358213 | NA | 127534 | GJB4 | umls:C0265961 | CLINVAR | NA | 0.482171535 | NA | GJB4;LOC105378643 | 1 | 34761820 | T | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000035 | Abnormality of the testis | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| 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:0000992 | Cutaneous photosensitivity | MP:0001202 | skin photosensitivity | abnormally heightened reactivity of the skin to sunlight |
| HP:0008069 | Neoplasm of the skin | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0007957 | Corneal opacity | MP:0009859 | eye opacity | changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life |
| HP:0001595 | Abnormality of the hair | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0000958 | Dry skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000411 | Protruding ear | MP:0005105 | abnormal middle ear ossicle morphology | any structural anomaly of the three small bones of the middle ear |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:27) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000411 | Protruding ear | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001595 | Abnormality of the hair | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0004322 | Short stature | 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:0005588 | Patchy palmoplantar keratoderma | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0000501 | Glaucoma | 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:0001182 | Tapered finger | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000992 | Cutaneous photosensitivity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000518 | Cataract | 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:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0002230 | Generalized hirsutism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000035 | Abnormality of the testis | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007400 | Irregular hyperpigmentation | 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:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008069 | Neoplasm of the skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001034 | Hypermelanotic macule | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000252 | Microcephaly | 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:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 378 |
|---|---|
| Disease | erythrokeratodermia variabilis |
| Case | (Waiting for update.) |