{"Name":"Revesz syndrome","DiseaseID__c":"GARD:0004695","id":4695,"encodedName":"revesz-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Revesz syndrome","Xref_IDs__c":"423022286; 723512008; C1327916; C152064; C538371; DOID:0070026; MEDGEN:231230; MONDO:0009990; OMIM:268130; ORPHA:3088","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009990","Disease_Description__c":"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.","GARD_Name__c":"Revesz syndrome","GARD_Synonym__c":"dkca5; dyskeratosis congenita with bilateral exudative retinopathy; dyskeratosis congenita, autosomal dominant 5; exudative retinopathy with bone marrow failure; retinopathy-anemia-central nervous system anomalies syndrome; retinopathy, anemia, central nervous system anomalies syndrome; revesz debuse syndrome; revesz-debuse syndrome","Curated_Disease_Description_Source__c":"MONDO:0009990","Curated_Disease_Description__c":"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:3088","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009990","ORPHANET_ID__c":"ORPHA:3088","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de revesz","Spanish_Description_Source__c":"ORPHA:3088","Spanish_Description__c":"Es una variante fenotípica grave poco frecuente de la disqueratosis congénita (DC) que aparece en la primera infancia y se caracteriza por características de la DC (como hiper/hipopigmentación de la piel, distrofia ungueal, leucoplasia oral, alto riesgo de insuficiencia medular y cáncer, retraso en el desarrollo del cabello escaso y fino) en asociación con retinopatía exudativa bilateral y calcificaciones intracraneales.","Spanish_Disease_Name__c":"síndrome de revesz","Spanish_GARD_Synonym__c":"disqueratosis congénita con retinopatía exudativa bilateral; síndrome de retinopatía-anemia-anomalías del sistema nervioso central; síndrome de revesz-debuse","Category_Linearization__c":"ORPHA:97992","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":"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.","Curated_Disease_Description_Source__c":"MONDO:0009990","GARD_Synonym__c":"dkca5; dyskeratosis congenita with bilateral exudative retinopathy; dyskeratosis congenita, autosomal dominant 5; exudative retinopathy with bone marrow failure; retinopathy-anemia-central nervous system anomalies syndrome; retinopathy, anemia, central nervous system anomalies syndrome; revesz debuse syndrome; revesz-debuse syndrome","Name":"Revesz syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Team Telomere","Website__c":"https://teamtelomere.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3088"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3088"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1327916"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004695","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK22301","Source__c":"Gene Review","Xref__c":"NBK22301"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C152064","Source__c":"C1327916; MONDO:0009990","Xref__c":"C152064"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=231230","Source__c":"C1327916","Xref__c":"MEDGEN:231230"},{"URL__c":"https://www.orpha.net/en/disease/detail/3088","Source__c":"C1327916; MONDO:0009990; ORPHA:3088","Xref__c":"ORPHA:3088"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723512008","Source__c":"C1327916; MONDO:0009990","Xref__c":"723512008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070026","Source__c":"MONDO:0009990","Xref__c":"DOID:0070026"},{"URL__c":"https://www.omim.org/entry/268130","Source__c":"C1327916; MONDO:0009990; ORPHA:3088","Xref__c":"OMIM:268130"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538371","Source__c":"MONDO:0009990","Xref__c":"C538371"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1327916","Source__c":"C1327916","Xref__c":"C1327916"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009990","Source__c":"GARD:0004695","Xref__c":"MONDO:0009990"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022286","Xref__c":"423022286"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TINF2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tinf2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A thickened white patch on the oral mucosa that cannot be rubbed off.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002745","HPO_Synonym__c":"leukokeratosis; Oral idiopathic keratosis; Oral idiopathic leukoplakia; Oral idiopathic white patch; Oral leucoplakia; Oral leukokeratosis; Oral leukoplasia; Oral white patch; Oral white plaque","HPO_Name__c":"Oral leukoplakia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001321","HPO_Synonym__c":"Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum","HPO_Name__c":"Cerebellar hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Aplastic anemia is defined as pancytopenia with a hypocellular marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001915","HPO_Name__c":"Aplastic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007617","HPO_Name__c":"Fine, reticulate skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3088","HPO_Frequency__c":"Frequent (30-79%)","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:3088","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005528","HPO_Synonym__c":"Bone marrow failure; Bone marrow hypoplasia; Hypoplastic bone marrow; Myeloid hypoplasia","HPO_Name__c":"Bone marrow hypocellularity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Partial or complete wasting (atrophy) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004334","HPO_Synonym__c":"Atrophic skin; Skin atrophy; Skin degeneration","HPO_Name__c":"Dermal atrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3088","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Intracranial calcifications refer to calcifications within the brain parenchyma or vasculature. The five major components of the brain comprise the cerebrum, cerebellum, brain stem, pituitary gland, and hypothalamus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0430048","HPO_Synonym__c":"Intracranial calcifications","HPO_Name__c":"Intracranial calcification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001531","HPO_Synonym__c":"Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy","HPO_Name__c":"Failure to thrive in infancy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012758","HPO_Synonym__c":"NDD","HPO_Name__c":"Neurodevelopmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of retinal detachment such that fluid is present in the subretinal space and separate the neurosensory retina from the retinal pigment epithelium. It is not associated with a full-thickness break nor a tractional component. Due to breakdown of outer blood-retina barrier or increased exudation from abnormal vasculature or defective outflow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012231","HPO_Synonym__c":"Exudative retinal detachment; Non-rhegmatogenous retinal detachment","HPO_Name__c":"Serous retinal detachment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Ophthalmology","Hematology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["dkca5"," dyskeratosis congenita with bilateral exudative retinopathy"," dyskeratosis congenita, autosomal dominant 5"," exudative retinopathy with bone marrow failure"," retinopathy-anemia-central nervous system anomalies syndrome"," retinopathy, anemia, central nervous system anomalies syndrome"," revesz debuse syndrome"," revesz-debuse syndrome"]}