Ontology Browser

Term:
ITM2B-related cerebral amyloid angiopathy 2 (DOID:0070030)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
cataract +     
cerebellar ataxia +     
Deafness +     
dementia +     
3-methylglutaconic aciduria type 5  
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
Adams Nance Syndrome 
AIDS Dementia Complex  
Albinism Deafness Syndrome 
Alpha-B Crystallinopathy with Cataract 
Alzheimer's disease +   
Amyloid Angiopathy 
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1  
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
APP-related cerebral amyloid angiopathy  
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
ataxia with oculomotor apraxia type 1  
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS  
Ataxia-Microcephaly-Cataract Syndrome 
autosomal dominant cerebellar ataxia +   
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal dominant nonsyndromic deafness 65  
autosomal recessive cerebellar ataxia +   
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayazi Syndrome 
Ayme-Gripp Syndrome  
Bassoe Syndrome 
Benign Cerebellar Ataxia with Thermoanalgesia 
Bhaskar Jagannathan Syndrome 
Brachydactyly-Nystagmus-Cerebellar Ataxia 
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 
Branchiogenic-Deafness Syndrome 
Burn-Mckeown Syndrome  
CAHMR Syndrome 
CAMFAK Syndrome 
CAPOS Syndrome  
Capsule Opacification 
Cardioauditory Syndrome of Sanchez Cascos 
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 18  
cataract 19 multiple types  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 22 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 32 multiple types 
cataract 33  
cataract 34 multiple types  
cataract 35 
cataract 36  
cataract 37 
cataract 38  
cataract 39 multiple types  
cataract 4 multiple types +   
cataract 40  
cataract 41  
cataract 42  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
cataract 5 multiple types  
cataract 6 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cataract and Congenital Ichthyosis 
Cataract Ataxia Deafness 
Cataract Congenital Dominant Non Nuclear  
Cataract Hutterite Type  
Cataract Microcornea Syndrome  
Cataract, Age-Related Nuclear 
Cataract, Alopecia, Sclerodactyly 
Cataract, Autosomal Dominant Nuclear  
Cataract, Autosomal Recessive Congenital 1 
Cataract, Cortical Pulverulent, Late-Onset 
Cataract, Crystalline Coralliform 
Cataract, Floriform 
Cataract, Lamellar 2  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataract, Polymorphic and Lamellar 
Cataract, Posterior Polar, 5 
Cataract, Progressive Polymorphic Cortical 
Cataract, Pulverulent 
Cataract, Sutural, with Punctate and Cerulean Opacities  
Cataract, Variable Zonular Pulverulent 
Cataract, Zonular Central Nuclear 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Cayman type cerebellar ataxia  
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Hypogonadotropic Hypogonadism  
Cerebellar Ataxia and Neurosensory Deafness 
Cerebellar Ataxia Ectodermal Dysplasia 
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME  
Cerebellar Hypoplasia with Endosteal Sclerosis  
Cerebellofaciodental Syndrome  
Cerebelloparenchymal Disorder II 
Cerebral Amyloidosis with Spongiform Encephalopathy +   
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, and Onychodystrophy, Autosomal Dominant  
Congenital Deafness, with Vitiligo and Achalasia 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
Congenital Myopathy with Neuropathy and Deafness  
Cornea Guttata with Anterior Polar Cataract 
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Coxoauricular Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Creutzfeldt-Jakob disease +   
Crome Syndrome 
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
CST3-related cerebral amyloid angiopathy +   
Davenport Donlan Syndrome 
Deaf-Blind Disorders +   
DEAFNESS AND MYOPIA  
Deafness Hyperuricemia Neurologic Ataxia 
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness, Nonsyndromic, Modifier 1  
Deafness, with Smith-Magenis Syndrome  
Deafness, X-Linked 6  
Deafness, Y-Linked 1 
Deafness, Y-Linked 2 
deafness-dystonia-optic neuronopathy syndrome  
Dementia/Parkinsonism with Non-Alzheimer Amyloid Plaques 
diabetic cataract  
Diffuse Neurofibrillary Tangles with Calcification 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Edict Syndrome  
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
episodic ataxia type 5  
episodic ataxia type 6  
Familial Hemiplegic Migraine, Type 1  
Fine-Lubinsky Syndrome 
Flynn Aird Syndrome 
Fountain Syndrome 
Frontotemporal Lobar Degeneration +   
Furukawa Takagi Nakao Syndrome 
Gillespie Syndrome  
Goldstein Hutt Syndrome 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Harding Ataxia 
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
Hereditary Hyperferritinemia with Congenital Cataracts  
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 9A  
Herrmann Syndrome 
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Huntington's disease +   
Huntington's disease-like 2  
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
Hyperlipoproteinemia Type II, and Deafness 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
Hypertrophic Neuropathy and Cataract 
hypomyelinating leukodystrophy 5  
Ichthyosiform Erythroderma, Corneal Involvement, Deafness 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Isolated Microphthalmia with Cataract 1 
Isolated Microphthalmia with Cataract 2  
Isolated Microphthalmia with Cataract 3  
Isolated Microphthalmia with Cataract 4 
ITM2B-related cerebral amyloid angiopathy 1  
ITM2B-related cerebral amyloid angiopathy 2  
A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. (DO)
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
juvenile amyotrophic lateral sclerosis with dementia 
Juvenile Cataract, with Microcornea and Glucosuria  
Kahrizi syndrome  
Karandikar Maria Kamble Syndrome 
Kluver-Bucy syndrome +  
Kohlschutter Tonz Syndrome  
Konigsmark Knox Hussels Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Krasnow Qazi Syndrome 
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 
Leg, Absence Deformity of, with Congenital Cataract 
Lewy body dementia +   
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Lubinsky Syndrome 
Lynch Lee Murday syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Marinesco-Sjogren syndrome  
Marshall Syndrome +   
Martsolf syndrome  
MAST syndrome  
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Deafness Syndrome 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microphthalmia, Syndromic 2  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Motor Neuron Disease with Dementia and Ophthalmoplegia 
Mousa Al din Al Nassar Syndrome 
Muckle-Wells syndrome  
Multiple Synostoses Syndrome 1  
Muscular Dystrophy, Congenital, Infantile with Cataract and Hypogonadism 
Myelocerebellar Disorder  
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonus, Cerebellar Ataxia, and Deafness 
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopia, High, with Cataract and Vitreoretinal Degeneration  
myotonic cataract 
Nance-Horan syndrome  
Nasodigitoacoustic Syndrome  
Nathalie Syndrome 
Nephrosis Deafness Urinary Tract Digital Malformation 
Neuhauser Eichner Opitz Syndrome 
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonprogressive cerebellar ataxia with mental retardation  
nonsyndromic deafness +   
O'Donnell Pappas Syndrome  
Optic Atrophy and Cataract, Autosomal Dominant  
Opticocochleodentate Degeneration 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Pavone Fiumara Rizzo Syndrome 
Perrault syndrome +   
Perrault Syndrome 3  
Peters Anomaly with Cataract 
PHARC syndrome  
Polycystic Kidney, Cataract, and Congenital Blindness 
posterior polar cataract  
Premature Aging, Okamoto Type 
Presenile Dementia, Kraepelin Type 
Primary Progressive Aphasia +   
Ramos Arroyo Clark Syndrome 
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
Schaap Taylor Baraitser Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schlegelberger Grote Syndrome 
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
Sengers syndrome  
senile cataract +   
Seow Najjar Syndrome 
short-rib thoracic dysplasia 9 with or without polydactyly  
Singh Chhaparwal Dhanda Syndrome 
Sinoatrial Node Dysfunction and Deafness  
Slavotinek Pike Mills Hurst Syndrome 
Spastic Paraplegia, Optic Atrophy, and Dementia 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloocular Syndrome, Autosomal Recessive  
temtamy preaxial brachydactyly syndrome  
tetanic cataract 
Tibia, Absence of, with Congenital Deafness 
Tietz syndrome  
vascular dementia +   
Vici syndrome  
Warburg micro syndrome +   
Wellesley Carmen French Syndrome 
Wells Jankovic Syndrome 
Wright Dyck Syndrome 
X-linked Alport syndrome  
X-Linked Mental Retardation Gustavson Type 
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Zonular Cataract and Nystagmus  

Synonyms
Exact Synonyms: FDD ;   HOOE ;   cerebellar ataxia, cataract, deafness, and dementia or psychosis ;   familial Danish dementia ;   heredopathia ophthalmootoencephalica
Primary IDs: MESH:C538209
Alternate IDs: OMIM:117300 ;   RDO:0004153
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/10781099

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