{"Name":"Epidermolysis bullosa simplex 5C, with pyloric atresia","DiseaseID__c":"GARD:0016991","id":16991,"encodedName":"epidermolysis-bullosa-simplex-5c-with-pyloric-atresia","IsDeleted":false,"Disease_Name_Full__c":"Epidermolysis bullosa simplex 5C, with pyloric atresia","Xref_IDs__c":"716701004; C2677349; C567408; MEDGEN:436922; MONDO:0012807; OMIM:612138; ORPHA:158684","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012807","Disease_Description__c":"A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications.","GARD_Name__c":"Epidermolysis bullosa simplex 5C, with pyloric atresia","GARD_Synonym__c":"ebs with pyloric atresia; ebs-pa; ebs5c; epidermolysis bullosa simplex co-occurrent with pyloric atresia; epidermolysis bullosa simplex with pyloric atresia; plec-related epidermolysis bullosa with pyloric atresia; plec1-related epidermolysis bullosa with pyloric atresia","Curated_Disease_Description_Source__c":"MONDO:0012807","Curated_Disease_Description__c":"A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:158684","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012807","ORPHANET_ID__c":"ORPHA:158684","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermólisis ampollosa simple con atresia pilórica","Spanish_Description_Source__c":"ORPHA:158684","Spanish_Description__c":"Es una epidermólisis ampollosa simple, poco frecuente y hereditaria, que se caracteriza por la formación de ampollas graves generalizadas con ausencia congénita de piel y atresia pilórica, que suele ser mortal en la infancia. En la etapa prenatal, la atresia pilórica puede manifestarse con polihidramnios. Si los pacientes sobreviven, sufren fragilidad cutánea y distrofia ungueal de por vida. Otros hallazgos extracutáneos incluyen fallo de medro, anemia, sepsis, ampollas intraorales, hipoplasia del esmalte, estenosis uretral y complicaciones urológicas.","Spanish_Disease_Name__c":"epidermólisis ampollosa simple con atresia pilórica","Spanish_GARD_Synonym__c":"ebs con atresia pilórica; epidermólisis bullosa simple con atresia pilórica","Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications.","Curated_Disease_Description_Source__c":"MONDO:0012807","GARD_Synonym__c":"ebs with pyloric atresia; ebs-pa; ebs5c; epidermolysis bullosa simplex co-occurrent with pyloric atresia; epidermolysis bullosa simplex with pyloric atresia; plec-related epidermolysis bullosa with pyloric atresia; plec1-related epidermolysis bullosa with pyloric atresia","Name":"Epidermolysis bullosa simplex 5C, with pyloric atresia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"DEBRA of America","Website__c":"https://www.debra.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:158684"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1157","Source__c":"Gene Review","Xref__c":"NBK1157"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2677349","Source__c":"C2677349","Xref__c":"C2677349"},{"URL__c":"https://www.orpha.net/en/disease/detail/158684","Source__c":"C2677349; MONDO:0012807; ORPHA:158684","Xref__c":"ORPHA:158684"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716701004","Source__c":"C2677349; MONDO:0012807","Xref__c":"716701004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=436922","Source__c":"C2677349","Xref__c":"MEDGEN:436922"},{"URL__c":"https://www.omim.org/entry/612138","Source__c":"C2677349; MONDO:0012807; ORPHA:158684","Xref__c":"OMIM:612138"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567408","Source__c":"MONDO:0012807","Xref__c":"C567408"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012807","Source__c":"GARD:0016991","Xref__c":"MONDO:0012807"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLEC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/plec","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Blisters arising in the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200097","HPO_Synonym__c":"Blebs of oral mucosa; Blisters of mouth; Bullae of oral mucosa; Oral blistering; Oral mucosal blisters","HPO_Name__c":"Oral mucosal blisters","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000075","HPO_Synonym__c":"Duplex kidney; Duplicated kidney; Extra kidney","HPO_Name__c":"Renal duplication","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001057","HPO_Synonym__c":"Absence of part of skin at birth; Congenital absence of skin; Cutis aplasia","HPO_Name__c":"Aplasia cutis congenita","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004552","HPO_Synonym__c":"Cicatricial alopecia","HPO_Name__c":"Scarring alopecia of scalp","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Aplasia (absence) of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010477","HPO_Synonym__c":"Absent bladder","HPO_Name__c":"Aplasia of the bladder","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000070","HPO_Name__c":"Ureterocele","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001056","HPO_Synonym__c":"Milk spot; Millium cyst","HPO_Name__c":"Milia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000795","HPO_Synonym__c":"Urethra issue","HPO_Name__c":"Abnormality of the urethra","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003560","HPO_Name__c":"Muscular dystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007589","HPO_Name__c":"Aplasia cutis congenita on trunk or limbs","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Skin that splits easily with minimal injury.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001030","HPO_Synonym__c":"Fragile skin; Skin fragility","HPO_Name__c":"Fragile skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007585","HPO_Name__c":"Skin fragility with non-scarring blistering","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001075","HPO_Synonym__c":"Sunken or indented skin due to damage; Thin, atrophic scars","HPO_Name__c":"Atrophic scars","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the congenital absence of skin on the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007385","HPO_Synonym__c":"Scalp aplasia cutis congenita","HPO_Name__c":"Aplasia cutis congenita of scalp","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008551","HPO_Synonym__c":"Bilateral microtia; Hypoplasia of the external ear; Hypoplastic ears; Hypoplastic pinna; Small ears; Small pinnae; Underdeveloped ears","HPO_Name__c":"Microtia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003341","HPO_Synonym__c":"Blistering with junctional split; Junctional split; Subepidermal blistering with cleavage in the lamina lucida","HPO_Name__c":"Lamina lucida cleavage","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of scar tissue within the glomerulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000096","HPO_Synonym__c":"Glomerulosclerosis","HPO_Name__c":"Glomerular sclerosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Congenital atresia of the pylorus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004399","HPO_Name__c":"Congenital pyloric atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the urinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000079","HPO_Synonym__c":"Urinary tract abnormalities; Urinary tract abnormality; Urinary tract anomalies","HPO_Name__c":"Abnormality of the urinary system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200041","HPO_Name__c":"Skin erosion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000110","HPO_Synonym__c":"Dysplastic kidneys; Renal adysplasia","HPO_Name__c":"Renal dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["ebs with pyloric atresia"," ebs-pa"," ebs5c"," epidermolysis bullosa simplex co-occurrent with pyloric atresia"," epidermolysis bullosa simplex with pyloric atresia"," plec-related epidermolysis bullosa with pyloric atresia"," plec1-related epidermolysis bullosa with pyloric atresia"]}