{"Name":"Albinism-hearing loss syndrome","DiseaseID__c":"GARD:0000589","id":589,"encodedName":"albinism-hearing-loss-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Albinism-hearing loss syndrome","Xref_IDs__c":"722285005; 74320008; C1845068; C537042; MEDGEN:375573; MONDO:0010403; OMIM:300700; ORPHA:998","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010403","Disease_Description__c":"A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.","GARD_Name__c":"Albinism-hearing loss syndrome","GARD_Synonym__c":"albinism with deafness syndrome; albinism-deafness syndrome; woolf's syndrome; ziprkowski–margolis syndrome","Curated_Disease_Description_Source__c":"MONDO:0010403","Curated_Disease_Description__c":"A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:998","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010403","ORPHANET_ID__c":"ORPHA:998","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de albinismo-sordera","Spanish_Description_Source__c":"ORPHA:998","Spanish_Description__c":"Es un trastorno poco frecuente caracterizado por sordera neurosensorial congénita y pibaldismo sin albinismo ocular. Se ha descrito en una familia extensa. La transmisión está ligada al cromosoma X. Los varones afectados se presentan con sordera neurosensorial profunda y anomalías pigmentarias graves en la piel. Las mujeres portadoras presentan pérdida auditiva variable sin cambios pigmentarios. El gen causante ha sido localizado en la región cromosómica Xq26.3-q27.1.","Spanish_Disease_Name__c":"síndrome de albinismo-sordera","Spanish_GARD_Synonym__c":"síndrome de albinismo-hipoacusia","Category_Linearization__c":"ORPHA:93890","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 disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.","Curated_Disease_Description_Source__c":"MONDO:0010403","GARD_Synonym__c":"albinism with deafness syndrome; albinism-deafness syndrome; woolf's syndrome; ziprkowski–margolis syndrome","Name":"Albinism-hearing loss syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The National Organization of Albinism and Hypopigmentation (NOAH)","Website__c":"https://www.albinism.org/"},{"Account_Name__c":"Hearing Loss Association of America","Website__c":"https://www.hearingloss.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":"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":"Neonatal","Provided_By__c":"ORPHA:998"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=74320008","Source__c":"MONDO:0010403","Xref__c":"74320008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537042","Source__c":"MONDO:0010403","Xref__c":"C537042"},{"URL__c":"https://www.omim.org/entry/300700","Source__c":"C1845068; MONDO:0010403; ORPHA:998","Xref__c":"OMIM:300700"},{"URL__c":"https://www.orpha.net/en/disease/detail/998","Source__c":"C1845068; MONDO:0010403; ORPHA:998","Xref__c":"ORPHA:998"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375573","Source__c":"C1845068","Xref__c":"MEDGEN:375573"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1845068","Source__c":"C1845068","Xref__c":"C1845068"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722285005","Source__c":"C1845068; MONDO:0010403","Xref__c":"722285005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010403","Source__c":"GARD:0000589","Xref__c":"MONDO:0010403"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:998","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007443","HPO_Synonym__c":"Congenital partial albinism on face, trunk, or limbs; Congenital partial leucoderma; Partial absent skin pigmentation","HPO_Name__c":"Partial albinism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:998","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001053","HPO_Synonym__c":"Patchy loss of skin color","HPO_Name__c":"Hypopigmented skin patches","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:998","HPO_Frequency__c":"Very frequent (80-99%)","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:998","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Congenital large depigmented (white) macule of irergular rhomboid shape. Piebald skin depigmentation generally presents with multiple such macules in the affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented macules interspersed within the depigmented macules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007544","HPO_Synonym__c":"Piebaldism","HPO_Name__c":"Piebald skin depigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:998","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007400","HPO_Name__c":"Irregular hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:998","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:998","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Heterochromia iridis is a difference in the color of the iris in the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001100","HPO_Synonym__c":"Different colored eyes; Heterochromia irides","HPO_Name__c":"Heterochromia iridis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Otolaryngology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["albinism with deafness syndrome"," albinism-deafness syndrome"," woolf's syndrome"," ziprkowski–margolis syndrome"]}