{"Name":"Melkersson-Rosenthal syndrome","DiseaseID__c":"GARD:0007010","id":7010,"encodedName":"melkersson-rosenthal-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Melkersson-Rosenthal syndrome","Xref_IDs__c":"C0025235; C84886; D008556; DOID:1761; G51.2; MEDGEN:6291; MONDO:0007969; OMIM:155900; ORPHA:2483","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007969","Disease_Description__c":"A rare orofacial granulomatosis characterized by the triad of recurrent or persistent orofacial edema (facial and lip edemas), fissured tongue, and relapsing, unilateral or bilateral peripheral facial nerve paralysis. Most cases present with partial symptoms. Typical age of onset is in childhood or adolescence. Histological examination shows non-caseating epithelioid cell granulomas and lymphedema.","GARD_Name__c":"Melkersson-Rosenthal syndrome","GARD_Synonym__c":"cheilitis granulomatosa of mescher-melkersson-rosenthal; cheilitis granulomatosa of miescher-melkersson-rosenthal; macrocheilia, facial palsy and edema syndrome; melkersson syndrome; melkersson's syndrome","Curated_Disease_Description_Source__c":"GARD:0007010","Curated_Disease_Description__c":"Melkersson-Rosenthal syndrome (MRS) is a rare, inherited syndrome that affects the nervous system and skin (a neurocutaneous syndrome). MRS may be characterized by three main features: recurrent facial nerve palsy, episodes of swelling of the face and lips, and fissuring of the tongue (formation of deep grooves). The majority of people with MRS only have one or two of these features, rather than all three. MRS is more common in females than in males. Inheritance of MRS is autosomal dominant, but a consistent genetic cause has not been found. It is possible that more than one gene is responsible for MRS, and/or that environmental \"triggers\" may contribute to causing the syndrome in some genetically predisposed individuals. In some cases, MRS may be associated with Crohn's disease or sarcoidosis. MRS is diagnosed based on the symptoms present and medical history, and a biopsy of the lips may be needed to confirm the diagnosis in some cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2483","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007969","ORPHANET_ID__c":"ORPHA:2483","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de melkersson-rosenthal","Spanish_Description_Source__c":"ORPHA:2483","Spanish_Description__c":"Es una granulomatosis orofacial poco frecuente caracterizada por la tríada de edema orofacial recurrente o persistente (edema facial y labial), fisura lingual y parálisis facial periférica recidivante uni o bilateral. La mayoría de los casos se presentan con síntomas parciales. Debuta habitualmente en la infancia o la adolescencia. El examen histológico muestra granulomas de células epitelioides no caseificantes y linfedema.","Spanish_Disease_Name__c":"síndrome de melkersson-rosenthal","Spanish_GARD_Synonym__c":null,"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":"Melkersson-Rosenthal syndrome (MRS) is a rare, inherited syndrome that affects the nervous system and skin (a neurocutaneous syndrome). MRS may be characterized by three main features: recurrent facial nerve palsy, episodes of swelling of the face and lips, and fissuring of the tongue (formation of deep grooves). The majority of people with MRS only have one or two of these features, rather than all three. MRS is more common in females than in males. Inheritance of MRS is autosomal dominant, but a consistent genetic cause has not been found. It is possible that more than one gene is responsible for MRS, and/or that environmental \"triggers\" may contribute to causing the syndrome in some genetically predisposed individuals. In some cases, MRS may be associated with Crohn's disease or sarcoidosis. MRS is diagnosed based on the symptoms present and medical history, and a biopsy of the lips may be needed to confirm the diagnosis in some cases.","Curated_Disease_Description_Source__c":"GARD:0007010","GARD_Synonym__c":"cheilitis granulomatosa of mescher-melkersson-rosenthal; cheilitis granulomatosa of miescher-melkersson-rosenthal; macrocheilia, facial palsy and edema syndrome; melkersson syndrome; melkersson's syndrome","Name":"Melkersson-Rosenthal syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Facial Paralysis & Bell's Palsy Foundation","Website__c":"https://facialparalysisfoundation.org/"},{"Account_Name__c":"Facial Palsy UK","Website__c":"https://www.facialpalsy.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"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":"Childhood","Provided_By__c":"ORPHA:2483"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/155900","Source__c":"C0025235; MONDO:0007969; ORPHA:2483","Xref__c":"OMIM:155900"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84886","Source__c":"C0025235; MONDO:0007969","Xref__c":"C84886"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=6291","Source__c":"C0025235","Xref__c":"MEDGEN:6291"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1761","Source__c":"MONDO:0007969","Xref__c":"DOID:1761"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008556","Source__c":"C0025235; MONDO:0007969","Xref__c":"D008556"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0025235","Source__c":"C0025235","Xref__c":"C0025235"},{"URL__c":"https://www.orpha.net/en/disease/detail/2483","Source__c":"C0025235; MONDO:0007969; ORPHA:2483","Xref__c":"ORPHA:2483"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=37770007","Source__c":"C0025235","Xref__c":"37770007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007969","Source__c":"GARD:0007010","Xref__c":"MONDO:0007969"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G51.2","Source__c":"MONDO:0007969","Xref__c":"G51.2"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=215617000","Source__c":"C0025235","Xref__c":"215617000"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2483","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010471","HPO_Name__c":"Oligosacchariduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2483","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006824","HPO_Synonym__c":"Cranial nerve palsies; Cranial nerve palsy; Cranial nerve paresis","HPO_Name__c":"Cranial nerve paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2483","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2483","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Edema affecting the region situated around the orbit of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100539","HPO_Synonym__c":"Periorbital cellulitis","HPO_Name__c":"Periorbital edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2483","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased length and width of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000158","HPO_Synonym__c":"Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy","HPO_Name__c":"Macroglossia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2483","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accentuation of the grooves on the dorsal surface of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000221","HPO_Synonym__c":"Fissured tongue; Grooved tongue; Lingua plicata; Lingual furrow; Plicated tongue; Prominent tongue grooves; Scrotal tongue","HPO_Name__c":"Furrowed tongue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2483","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011123","HPO_Synonym__c":"Abnormal tendency to infections of the skin; Inflammatory abnormality of the skin; Skin inflammation","HPO_Name__c":"Inflammatory abnormality of the skin","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2483","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012332","HPO_Synonym__c":"Autonomic dysfunction; Autonomic dysregulation; Dysautonomia","HPO_Name__c":"Abnormal autonomic nervous system physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2483","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2483","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A lack of facial expression often with staring eyes and a slightly open mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000298","HPO_Synonym__c":"Amimia; Expressionless face; Lack of facial expression; Mask-like facial appearance; Masklike facies","HPO_Name__c":"Mask-like facies","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2483","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2483","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2483","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2483","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100825","HPO_Synonym__c":"Inflammation of the lips","HPO_Name__c":"Cheilitis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Immunology","Dermatology","Pediatrics"],"Account":["Dermatology"],"Disease Category":["Dermatology"]},"synonyms":["cheilitis granulomatosa of mescher-melkersson-rosenthal"," cheilitis granulomatosa of miescher-melkersson-rosenthal"," macrocheilia, facial palsy and edema syndrome"," melkersson syndrome"," melkersson's syndrome"]}