{"Name":"Deafness-small bowel diverticulosis-neuropathy syndrome","DiseaseID__c":"GARD:0002568","id":2568,"encodedName":"deafness-small-bowel-diverticulosis-neuropathy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Deafness-small bowel diverticulosis-neuropathy syndrome","Xref_IDs__c":"733071009; C1857338; C537305; MEDGEN:347426; MONDO:0009086; OMIM:221400; ORPHA:3217","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009086","Disease_Description__c":"A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.","GARD_Name__c":"Deafness-small bowel diverticulosis-neuropathy syndrome","GARD_Synonym__c":"deafness, small bowel diverticulosis, neuropathy syndrome; groll hirschowitz syndrome; groll-hirschowitz syndrome; hearing loss-small bowel diverticulosis-neuropathy syndrome; nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy","Curated_Disease_Description_Source__c":"MONDO:0009086","Curated_Disease_Description__c":"A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:3217","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009086","ORPHANET_ID__c":"ORPHA:3217","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sordera-diverticulosis en el intestino delgado-neuropatía","Spanish_Description_Source__c":"ORPHA:3217","Spanish_Description__c":"Es una enfermedad neurológica poco frecuente caracterizada por sordera neurosensorial progresiva, neuropatía sensitiva progresiva y anomalías gastrointestinales, que incluyen pérdida progresiva de la motilidad gástrica y diverticulosis y úlceras en el intestino delgado que derivan en caquexia. Otras manifestaciones neurológicas adicionales pueden incluir disartria y ausencia de reflejos osteotendinosos, así como ptosis y oftalmoplejía externa. No ha habido más casos descritos en la literatura desde 1985.","Spanish_Disease_Name__c":"síndrome de sordera-diverticulosis en el intestino delgado-neuropatía","Spanish_GARD_Synonym__c":"síndrome de hipoacusia-diverticulosis en el intestino delgado-neuropatía","Category_Linearization__c":"ORPHA:98006","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 neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.","Curated_Disease_Description_Source__c":"MONDO:0009086","GARD_Synonym__c":"deafness, small bowel diverticulosis, neuropathy syndrome; groll hirschowitz syndrome; groll-hirschowitz syndrome; hearing loss-small bowel diverticulosis-neuropathy syndrome; nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy","Name":"Deafness-small bowel diverticulosis-neuropathy syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3217"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/221400","Source__c":"C1857338; MONDO:0009086; ORPHA:3217","Xref__c":"OMIM:221400"},{"URL__c":"https://www.orpha.net/en/disease/detail/3217","Source__c":"C1857338; MONDO:0009086; ORPHA:3217","Xref__c":"ORPHA:3217"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347426","Source__c":"C1857338","Xref__c":"MEDGEN:347426"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733071009","Source__c":"C1857338; MONDO:0009086","Xref__c":"733071009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537305","Source__c":"MONDO:0009086","Xref__c":"C537305"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857338","Source__c":"C1857338","Xref__c":"C1857338"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009086","Source__c":"GARD:0002568","Xref__c":"MONDO:0009086"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3217","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in voluntary or involuntary eye movements or their control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000496","HPO_Synonym__c":"Abnormal extraocular movement; Abnormal extraocular movements; Abnormal eye motility; Abnormal eye movement; Abnormal eye movements; Abnormal motility of the globe of the eye; Abnormal movement of the globe of the eye; Abnormal ocular movements; Abnormality of eye movement; Eye movement abnormalities; Eye movement issue; Ocular movement abnormalities; Oculomotor abnormalities","HPO_Name__c":"Abnormality of eye movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3217","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An erosion of the mucous membrane in a portion of the duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002588","HPO_Name__c":"Duodenal ulcer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3217","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3217","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Short palm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004279","HPO_Synonym__c":"Short palm","HPO_Name__c":"Short palm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3217","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002028","HPO_Synonym__c":"Chronic diarrhea","HPO_Name__c":"Chronic diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3217","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:3217","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3217","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002301","HPO_Synonym__c":"Paralysis on one side of body","HPO_Name__c":"Hemiplegia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3217","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002570","HPO_Synonym__c":"Fat in feces; Fatty stool; Greasy stools","HPO_Name__c":"Steatorrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3217","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000600","HPO_Name__c":"Abnormality of the pharynx","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3217","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3217","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3217","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004326","HPO_Synonym__c":"Wasting syndrome","HPO_Name__c":"Cachexia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3217","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3217","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000992","HPO_Synonym__c":"Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity","HPO_Name__c":"Cutaneous photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3217","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["deafness, small bowel diverticulosis, neuropathy syndrome"," groll hirschowitz syndrome"," groll-hirschowitz syndrome"," hearing loss-small bowel diverticulosis-neuropathy syndrome"," nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy"]}