{"Name":"Pendred syndrome","DiseaseID__c":"GARD:0004271","id":4271,"encodedName":"pendred-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Pendred syndrome","Xref_IDs__c":"70348004; C0271829; C121745; C536648; DOID:0060744; MEDGEN:82890; MONDO:0010134; OMIM:274600; ORPHA:705","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010134","Disease_Description__c":"A syndromic genetic deafness clinically variable characterized by bilateral sensorineural hearing loss and euthyroid goiter.","GARD_Name__c":"Pendred syndrome","GARD_Synonym__c":"congenital hypothyroidism due to dyshormonogenesis 2b; deafness with goiter; deafness with goitre; gdth iib; genetic defect in thyroid hormonogenesis 2b; genetic defect in thyroid hormonogenesis ii b; goiter-deafness syndrome; goiter-hearing loss syndrome; hypothyroidism with sensorineural deafness; hypothyroidism, congenital, due to dyshormonogenesis, 2b; pds; pendred's syndrome; tdh2b; thyroid dyshormonogenesis 2b; thyroid hormone organification defect ii b; thyroid hormonogenesis, genetic defect in, 2b","Curated_Disease_Description_Source__c":"GARD:0004271","Curated_Disease_Description__c":"Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in a person with Pendred syndrome, it usually forms between late childhood and early adulthood. In most cases, this enlargement does not cause the thyroid to malfunction. In most people with Pendred syndrome, severe to profound hearing loss caused by changes in the inner ear (sensorineural hearing loss) is evident at birth. Less commonly, hearing loss does not develop until later in infancy or early childhood. Some affected individuals also have problems with balance caused by dysfunction of the vestibular system, which is the part of the inner ear that helps maintain the body's balance and orientation. An inner ear abnormality called an enlarged vestibular aqueduct (EVA) is a characteristic feature of Pendred syndrome. The vestibular aqueduct is a bony canal that connects the inner ear with the inside of the skull. Some affected individuals also have an abnormally shaped cochlea, which is a snail-shaped structure in the inner ear that helps process sound. The combination of an enlarged vestibular aqueduct and an abnormally shaped cochlea is known as Mondini malformation. Pendred syndrome shares features with other hearing loss and thyroid conditions, and it is unclear whether they are best considered as separate disorders or as a spectrum of related signs and symptoms. These conditions include a form of nonsyndromic hearing loss (hearing loss that does not affect other parts of the body) called DFNB4, and, in a small number of people, a form of congenital hypothyroidism resulting from an abnormally small thyroid gland (thyroid hypoplasia). All of these conditions are caused by mutations in the same gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:705","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010134","ORPHANET_ID__c":"ORPHA:705","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de pendred","Spanish_Description_Source__c":"ORPHA:705","Spanish_Description__c":"Es una sordera genética sindrómica clínicamente variable caracterizada por hipoacusia neurosensorial bilateral y bocio eutiroideo.","Spanish_Disease_Name__c":"síndrome de pendred","Spanish_GARD_Synonym__c":"síndrome de bocio-hipoacusia; síndrome de bocio-sordera","Category_Linearization__c":"ORPHA:98036","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":"Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in a person with Pendred syndrome, it usually forms between late childhood and early adulthood. In most cases, this enlargement does not cause the thyroid to malfunction. In most people with Pendred syndrome, severe to profound hearing loss caused by changes in the inner ear (sensorineural hearing loss) is evident at birth. Less commonly, hearing loss does not develop until later in infancy or early childhood. Some affected individuals also have problems with balance caused by dysfunction of the vestibular system, which is the part of the inner ear that helps maintain the body's balance and orientation. An inner ear abnormality called an enlarged vestibular aqueduct (EVA) is a characteristic feature of Pendred syndrome. The vestibular aqueduct is a bony canal that connects the inner ear with the inside of the skull. Some affected individuals also have an abnormally shaped cochlea, which is a snail-shaped structure in the inner ear that helps process sound. The combination of an enlarged vestibular aqueduct and an abnormally shaped cochlea is known as Mondini malformation. Pendred syndrome shares features with other hearing loss and thyroid conditions, and it is unclear whether they are best considered as separate disorders or as a spectrum of related signs and symptoms. These conditions include a form of nonsyndromic hearing loss (hearing loss that does not affect other parts of the body) called DFNB4, and, in a small number of people, a form of congenital hypothyroidism resulting from an abnormally small thyroid gland (thyroid hypoplasia). All of these conditions are caused by mutations in the same gene.","Curated_Disease_Description_Source__c":"GARD:0004271","GARD_Synonym__c":"congenital hypothyroidism due to dyshormonogenesis 2b; deafness with goiter; deafness with goitre; gdth iib; genetic defect in thyroid hormonogenesis 2b; genetic defect in thyroid hormonogenesis ii b; goiter-deafness syndrome; goiter-hearing loss syndrome; hypothyroidism with sensorineural deafness; hypothyroidism, congenital, due to dyshormonogenesis, 2b; pds; pendred's syndrome; tdh2b; thyroid dyshormonogenesis 2b; thyroid hormone organification defect ii b; thyroid hormonogenesis, genetic defect in, 2b","Name":"Pendred syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"British Thyroid Foundation","Website__c":"https://www.btf-thyroid.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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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:705"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:705"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0271829"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004271","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1467","Source__c":"Gene Review","Xref__c":"NBK1467"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1434","Source__c":"Gene Review","Xref__c":"NBK1434"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536648","Source__c":"MONDO:0010134","Xref__c":"C536648"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0271829","Source__c":"C0271829","Xref__c":"C0271829"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C121745","Source__c":"C0271829; MONDO:0010134","Xref__c":"C121745"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=70348004","Source__c":"C0271829; MONDO:0010134","Xref__c":"70348004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82890","Source__c":"C0271829","Xref__c":"MEDGEN:82890"},{"URL__c":"https://www.orpha.net/en/disease/detail/705","Source__c":"C0271829; MONDO:0010134; ORPHA:705","Xref__c":"ORPHA:705"},{"URL__c":"https://www.omim.org/entry/274600","Source__c":"C0271829; MONDO:0010134; ORPHA:705","Xref__c":"OMIM:274600"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060744","Source__c":"MONDO:0010134","Xref__c":"DOID:0060744"},{"URL__c":"https://medlineplus.gov/genetics/condition/pendred-syndrome","Source__c":"GARD:0004271","Xref__c":"https://medlineplus.gov/genetics/condition/pendred-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010134","Source__c":"GARD:0004271","Xref__c":"MONDO:0010134"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC26A4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc26a4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FOXI1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KCNJ10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:705","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002890","HPO_Name__c":"Thyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:705","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:705","HPO_Frequency__c":"Occasional (5-29%)","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:705","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased size of the vestibular aqueduct.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011387","HPO_Synonym__c":"Dilated vestibular aqueduct; Widened vestibular aqueduct","HPO_Name__c":"Enlarged vestibular aqueduct","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:705","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive production of parathyroid hormone (PTH) by the parathyroid glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000843","HPO_Synonym__c":"Elevated blood parathyroid hormone level","HPO_Name__c":"Hyperparathyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:705","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the cochlea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008586","HPO_Synonym__c":"Hypoplastic cochlea; Underdeveloped cochlea","HPO_Name__c":"Hypoplasia of the cochlea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:705","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:705","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the inner ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000359","HPO_Synonym__c":"Abnormality of the inner ear; Inner ear abnormality","HPO_Name__c":"Abnormality of the inner ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:705","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An enlargement of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000853","HPO_Synonym__c":"Enlarged thyroid gland in neck; Thyroid goiter","HPO_Name__c":"Goiter","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:705","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:705","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:705","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002777","HPO_Synonym__c":"Narrowing of windpipe","HPO_Name__c":"Tracheal stenosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:705","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:705","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nonspecific term referring to disease or damage of the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000112","HPO_Name__c":"Nephropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:705","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Endocrine","Otolaryngology","Pediatrics"]},"synonyms":["congenital hypothyroidism due to dyshormonogenesis 2b"," deafness with goiter"," deafness with goitre"," gdth iib"," genetic defect in thyroid hormonogenesis 2b"," genetic defect in thyroid hormonogenesis ii b"," goiter-deafness syndrome"," goiter-hearing loss syndrome"," hypothyroidism with sensorineural deafness"," hypothyroidism, congenital, due to dyshormonogenesis, 2b"," pds"," pendred's syndrome"," tdh2b"," thyroid dyshormonogenesis 2b"," thyroid hormone organification defect ii b"," thyroid hormonogenesis, genetic defect in, 2b"]}