eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dystrophic epidermolysis bullosa | ||||
| Disease ID | 109 |
|---|---|
| Disease | dystrophic epidermolysis bullosa |
| Definition | Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS. |
| Synonym | bullosa dystrophic epidermolysis bullosa dystrophica epidermolysis bullosa dystrophica, epidermolysis bullosa dystrophicas, epidermolysis bullosa, dystrophic epidermolysis bullosas, dystrophic epidermolysis deb - dystrophic epidermolysis bullosa dystrophic epidermolysis bullosa (disorder) dystrophic epidermolysis bullosas dystrophica, epidermolysis bullosa dystrophicas, epidermolysis bullosa epidermolysis bullosa dystrophic epidermolysis bullosa dystrophica epidermolysis bullosa dystrophica [disease/finding] epidermolysis bullosa dystrophicas epidermolysis bullosa, dystrophic epidermolysis bullosas, dystrophic |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0079294 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:15) C0007137 | squamous cell carcinoma | 7 C0553723 | cutaneous squamous cell carcinoma | 2 C0007137 | squamous cell carcinomas | 2 C0878544 | cardiomyopathy | 2 C0155119 | recurrent corneal erosions | 1 C0006142 | breast cancer | 1 C0003467 | anxiety | 1 C0011847 | diabetes | 1 C0268397 | cutaneous amyloidosis | 1 C0011849 | diabetes mellitus | 1 C0079588 | x-linked ichthyosis | 1 C0007193 | dilated cardiomyopathy | 1 C0020757 | ichthyosis | 1 C0002726 | amyloidosis | 1 C0155119 | recurrent corneal erosion | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:34) 265 | AMELX | 1.1 | DISEASES 270 | AMPD1 | 1.707 | DISEASES 347527 | ARSH | 1.551 | DISEASES 3426 | CFI | 1.198 | DISEASES 1308 | COL17A1 | 3.108 | DISEASES 1294 | COL7A1 | 9.006 | DISEASES 1810 | DR1 | 5.25 | DISEASES 1781 | DYNC1I2 | 1.539 | DISEASES 2200 | FBN1 | 1.504 | DISEASES 2312 | FLG | 2.39 | DISEASES 158326 | FREM1 | 2.19 | DISEASES 166752 | FREM3 | 2.79 | DISEASES 10082 | GPC6 | 2.288 | DISEASES 3146 | HMGB1 | 1.195 | DISEASES 3655 | ITGA6 | 1.095 | DISEASES 3713 | IVL | 2.17 | DISEASES 102723508 | KANTR | 1.002 | DISEASES 11012 | KLK11 | 1.656 | DISEASES 3909 | LAMA3 | 1.267 | DISEASES 3914 | LAMB3 | 1.89 | DISEASES 4146 | MATN1 | 1.797 | DISEASES 4312 | MMP1 | 2.947 | DISEASES 26151 | NAT9 | 1.101 | DISEASES 378884 | NHLRC1 | 1.298 | DISEASES 4810 | NHS | 3.391 | DISEASES 255743 | NPNT | 2.549 | DISEASES 103752588 | PACERR | 1.491 | DISEASES 5339 | PLEC | 2.246 | DISEASES 51334 | PRR16 | 2.856 | DISEASES 6256 | RXRA | 1.167 | DISEASES 51429 | SNX9 | 2.108 | DISEASES 259236 | TMIE | 2.62 | DISEASES 84000 | TMPRSS13 | 2.134 | DISEASES 7390 | UROS | 1.286 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 109 |
|---|---|
| Disease | dystrophic epidermolysis bullosa |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:50) HP:0002860 | Squamous cell carcinoma HP:0000670 | Carious teeth HP:0001297 | Stroke HP:0001810 | Dystrophic toenail HP:0001155 | Abnormality of the hand HP:0008404 | Nail dystrophy HP:0000682 | Abnormality of dental enamel HP:0000071 | Ureteral stenosis HP:0002015 | Dysphagia HP:0004378 | Abnormality of the anus HP:0000365 | Hearing impairment HP:0001770 | Toe syndactyly HP:0002019 | Constipation HP:0001644 | Dilated cardiomyopathy HP:0001741 | Phimosis HP:0100825 | Cheilitis HP:0000083 | Renal insufficiency HP:0001635 | Congestive heart failure HP:0100820 | Glomerulopathy HP:0006101 | Finger syndactyly HP:0000016 | Urinary retention HP:0001053 | Hypopigmented skin patches HP:0100326 | Immunologic hypersensitivity HP:0200020 | Corneal erosion HP:0001056 | Milia HP:0000164 | Abnormality of the teeth HP:0008066 | Abnormal blistering of the skin HP:0001903 | Anemia HP:0005830 | Flexion contracture of toe HP:0001602 | Laryngeal stenosis HP:0002664 | Neoplasm HP:0000221 | Furrowed tongue HP:0000656 | Ectropion HP:0000389 | Chronic otitis media HP:0000498 | Blepharitis HP:0001508 | Failure to thrive HP:0002043 | Esophageal stricture HP:0001760 | Abnormality of the foot HP:0008391 | Dystrophic fingernails HP:0001597 | Abnormality of the nail HP:0000579 | Nasolacrimal duct obstruction HP:0012451 | Acute constipation HP:0006530 | Interstitial pulmonary disease HP:0000100 | Nephrotic syndrome HP:0100490 | Camptodactyly of finger HP:0100758 | Gangrene HP:0000964 | Eczema HP:0008065 | Aplasia/Hypoplasia of the skin HP:0001581 | Recurrent skin infections HP:0100699 | Scarring |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:18) HP:0002860 | Squamous cell carcinoma | 7 HP:0030731 | Carcinoma | 4 HP:0002043 | Esophageal stricture | 4 HP:0001638 | Cardiomyopathy | 2 HP:0004399 | Congenital pyloric atresia | 1 HP:0001644 | Congestive cardiomyopathy | 1 HP:0000819 | Diabetes mellitus | 1 HP:0012309 | Cutaneous amyloidosis | 1 HP:0012817 | Noncompaction of the ventricular myocardium | 1 HP:0011034 | Amyloid disease | 1 HP:0001057 | Aplasia cutis congenita | 1 HP:0000739 | Anxiety | 1 HP:0200020 | Corneal erosion | 1 HP:0007383 | Congenital localized absence of skin | 1 HP:0011664 | Left ventricular non-compaction cardiomyopathy | 1 HP:0000495 | Recurrent corneal erosions | 1 HP:0003002 | Breast carcinoma | 1 HP:0008064 | Ichthyosis | 1 |
| Disease ID | 109 |
|---|---|
| Disease | dystrophic epidermolysis bullosa |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:9) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0007137 | squamous cell carcinoma | 7 C0878544 | cardiomyopathy | 2 C0014866 | esophageal strictures | 2 C0014866 | esophageal stricture | 2 C0007193 | dilated cardiomyopathy | 1 |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| COL7A1 | Het del exon 1–2 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| COL7A1 | c.3942dupG | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:25) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| 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:0000221 | Furrowed tongue | MP:0000764 | abnormal tongue epithelium morphology | any structural anomaly of the epithelial layer of the tongue |
| 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:0006101 | Finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0001644 | Dilated cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
| HP:0001770 | Toe syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0002860 | Squamous cell carcinoma | MP:0011903 | decreased hematopoietic stem cell proliferation | reduction in the expansion rate of a hematopoietic stem cell population by cell division |
| HP:0005830 | Flexion contracture of toe | 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 |
| HP:0001760 | Abnormality of the foot | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| 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:0100326 | Immunologic hypersensitivity | MP:0005617 | increased susceptibility to type IV hypersensitivity reaction | greater likelihood of developing an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact |
| HP:0000579 | Nasolacrimal duct obstruction | MP:0009525 | abnormal submandibular duct morphology | any structural anomaly of the duct of the submadibular gland that opens at the sublingual papilla near the frenulum of the tongue |
| HP:0008065 | Aplasia/Hypoplasia of the skin | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0006530 | Interstitial pulmonary disease | MP:0002295 | abnormal pulmonary circulation | any anomaly in the circulation of blood through the lungs |
| HP:0000682 | Abnormality of dental enamel | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
| HP:0001581 | Recurrent skin infections | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0000389 | Chronic otitis media | MP:0001850 | increased susceptibility to otitis media | greater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection |
| HP:0100490 | Camptodactyly of finger | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0004378 | Abnormality of the anus | MP:0004499 | increased incidence of tumors by chemical induction | higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0001155 | Abnormality of the hand | MP:0010465 | aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0000164 | Abnormality of the teeth | 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 |
Mapped by homologous gene(Total Items:49) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000071 | Ureteral stenosis | MP:0012253 | abnormal intersomitic vessel morphology | any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001581 | Recurrent skin infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000964 | Eczema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000221 | Furrowed tongue | 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:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001810 | Dystrophic toenail | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0000682 | Abnormality of dental enamel | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100699 | Scarring | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0008404 | Nail dystrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001770 | Toe syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001602 | Laryngeal stenosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100820 | Glomerulopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| 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:0001760 | Abnormality of the foot | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0200020 | Corneal erosion | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0004378 | Abnormality of the anus | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| 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:0005830 | Flexion contracture of toe | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100490 | Camptodactyly of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001297 | Stroke | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001644 | Dilated cardiomyopathy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001056 | Milia | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0001155 | Abnormality of the hand | 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:0001053 | Hypopigmented skin patches | 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:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002860 | Squamous cell carcinoma | MP:0013502 | decreased fibroblast apoptosis | reduction in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0006530 | Interstitial pulmonary disease | MP:0011846 | decreased kidney collecting duct number | smaller than expected number of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electroly |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100326 | Immunologic hypersensitivity | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0002043 | Esophageal stricture | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000579 | Nasolacrimal duct obstruction | 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:0000100 | Nephrotic syndrome | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001741 | Phimosis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000389 | Chronic otitis media | 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:0008065 | Aplasia/Hypoplasia of the skin | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100825 | Cheilitis | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0002019 | Constipation | 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:0100758 | Gangrene | MP:0011517 | hyperoxaluria | abnormally high levels of oxalic acid or oxalates in the urine; many metal ions form insoluble precipitates with oxalate, a prominent example being calcium oxalate, the primary constituent of the most common kind of kidney stones |
| HP:0008391 | Dystrophic fingernails | 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:0000498 | Blepharitis | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000016 | Urinary retention | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0000656 | Ectropion | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| Disease ID | 109 |
|---|---|
| Disease | dystrophic epidermolysis bullosa |
| Case | (Waiting for update.) |