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Term:
autosomal dominant cerebellar ataxia, deafness and narcolepsy (DOID:0050968)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Acrootoocular Syndrome 
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
Ataxia, Deafness, and Cardiomyopathy 
Athabaskan brainstem dysgenesis syndrome  
Auditory Neuropathy, Nonsyndromic Recessive 
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene. (DO)
autosomal dominant nonsyndromic deafness +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive spinocerebellar ataxia 19  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Ayme-Gripp Syndrome  
BADS syndrome 
Bart-Pumphrey syndrome  
Bartter disease type 4A  
Bartter disease type 4b  
Bjornstad syndrome  
Boudhina Yedes Khiari syndrome 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brown-Vialetto-Van Laere syndrome +   
CAPOS Syndrome  
Cataplexy  
Cataract Ataxia Deafness 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Neurosensory Deafness 
Charcot-Marie-Tooth Disease and Deafness +   
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease X-linked recessive 4  
Chitty Hall Baraitser Syndrome 
Chudley-Mccullough syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome 
Combined Pituitary Hormone Deficiency, 3  
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness, with Total Albinism 
Congenital Ectodermal Dysplasia with Hearing Loss 
Corneal Dystrophy and Perceptive Deafness  
cortical deafness +   
Craniofacial Deafness Hand Syndrome  
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
De Hauwere syndrome 
Deafness Enamel Hypoplasia Nail Defects  
Deafness Oligodontia Syndrome 
Deafness, Aminoglycoside-Induced  
Deafness, High-Frequency Sensorineural, X-Linked  
Deafness, Mid-Tone Neural 
Deafness, Progressive High-Tone Neural 
Deafness, X-Linked 1  
Deafness, X-Linked 3 
Deafness, X-Linked 4  
Deafness, X-Linked 5  
deafness-intellectual disability, Martin-Probst type syndrome  
dentatorubral-pallidoluysian atrophy  
Digitorenocerebral Syndrome  
dilated cardiomyopathy 1J  
Disseminated Sclerosis with Narcolepsy 
Distal Renal Tubular Acidosis with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss  
Donnai-Barrow syndrome  
EAST syndrome  
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ermine Phenotype 
Fitzsimmons Walson Mellor Syndrome 
Flynn Aird Syndrome 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Gemignani Syndrome 
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Gonadal Dysgenesis, XX Type, with Deafness +   
GRID2-related spinocerebellar ataxia 
Griscelli syndrome +   
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
HID Syndrome  
High-Frequency Hearing Loss  
Histiocytosis with Joint Contractures and Sensorineural Deafness  
Hittner Hirsch Kreh Syndrome 
Homozygous 11p15-p14 Deletion Syndrome 
hypomyelinating leukoencephalopathy 
hypoparathyroidism-deafness-renal disease syndrome  
Insulin-Like Growth Factor I Deficiency  
Irresistible Sleepiness, Cataplexy and Onset of Sleep in Desynchronized Phase 
Johanson-Blizzard syndrome  
Machado-Joseph disease +   
Marshall Syndrome +   
MYH-9 related disease +   
Narcolepsy 1  
Narcolepsy 7  
Nephropathy Deafness Hyperparathyroidism 
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
Nonsyndromic Sensorineural Hearing Loss  
ocular albinism with sensorineural deafness  
Optic Atrophy 1 and Deafness  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
otospondylomegaepiphyseal dysplasia  
Palmoplantar Keratoderma with Deafness  
Paragangliomas with Sensorineural Hearing Loss  
Pendred syndrome  
Pfeiffer Kapferer Syndrome 
Pigmentary Retinopathy and Sensorineural Deafness  
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Presbycusis +   
Progressive Hearing Loss Stapes Fixation  
Progressive Nephropathy with Deafness 
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
Retinitis Pigmentosa Inversa with Deafness 
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Schaap Taylor Baraitser Syndrome 
Sensorineural Deafness and Male Infertility  
Sensorineural Deafness and Migraine  
Sensorineural Deafness with Hypertrophic Cardiomyopathy  
Sensorineural Deafness with Mild Renal Dysfunction  
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 
Sensorineural Deafness, Autosomal-Mitochondrial Type  
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spinocerebellar Ataxia 32 
Spinocerebellar Ataxia 41  
Spinocerebellar Ataxia 42  
Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits  
Spinocerebellar Ataxia 43  
spinocerebellar ataxia 44  
spinocerebellar ataxia 45  
spinocerebellar ataxia 46  
Spinocerebellar Ataxia 47  
Spinocerebellar Ataxia 48  
spinocerebellar ataxia type 1  
spinocerebellar ataxia type 10  
spinocerebellar ataxia type 11  
spinocerebellar ataxia type 12  
spinocerebellar ataxia type 13  
spinocerebellar ataxia type 14  
spinocerebellar ataxia type 15  
spinocerebellar ataxia type 17  
spinocerebellar ataxia type 18 
spinocerebellar ataxia type 19/22  
spinocerebellar ataxia type 2  
spinocerebellar ataxia type 20 
spinocerebellar ataxia type 21  
spinocerebellar ataxia type 23  
spinocerebellar ataxia type 25 
spinocerebellar ataxia type 26  
spinocerebellar ataxia type 27  
spinocerebellar ataxia type 28  
spinocerebellar ataxia type 29  
spinocerebellar ataxia type 30 
spinocerebellar ataxia type 31  
spinocerebellar ataxia type 34  
spinocerebellar ataxia type 35  
spinocerebellar ataxia type 36  
spinocerebellar ataxia type 37  
spinocerebellar ataxia type 38  
spinocerebellar ataxia type 4  
spinocerebellar ataxia type 40  
spinocerebellar ataxia type 5  
spinocerebellar ataxia type 6  
spinocerebellar ataxia type 7  
spinocerebellar ataxia type 8  
split hand-foot malformation 1 with sensorineural hearing loss  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Sudden Hearing Loss  
thiamine-responsive megaloblastic anemia syndrome  
Townes-Brocks syndrome +   
Treft Sanborn Carey Syndrome 
Tunglang Savage Bellman Syndrome 
Usher syndrome +   
Vohwinkel Syndrome  
Wolfram syndrome 2  
Wolfram Syndrome, Mitochondrial Form 
X-linked nonsyndromic deafness +   

Synonyms
Exact Synonyms: ADCADN ;   Cerebellar Ataxia, Deafness, and Narcolepsy
Primary IDs: MESH:C565825 ;   RDO:0014363
Alternate IDs: OMIM:604121
Xrefs: GARD:12372
Definition Sources: https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.