Disease Browser
|
Parent Node: Cataract (D002386) | Parent Node: Cerebellar Ataxia (D002524) | Parent Node: Deafness (D003638) | Parent Node: Dementia (D003704) | ..Starting node ..Dementia, familial Danish (C538209)
| Child Nodes:
|
Sister Nodes: | ..AIDS Dementia Complex (D015526)
| ..Alzheimer Disease (D000544) 24
| ..Amyloidosis, Cerebral, with Spongiform Encephalopathy (C535800)
| ..Amyotrophic Lateral Sclerosis, Juvenile, with Dementia (C565956)
| ..AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
| ..Aphasia, Primary Progressive (D018888) 1
| ..Ataxia with Myoclonic Epilepsy and Presenile Dementia (C565933)
| ..Creutzfeldt-Jakob Syndrome (D007562) 3
| ..Dementia, familial Danish (C538209)
| ..Dementia, Vascular (D015140) 3
| ..Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques (C565115)
| ..Diffuse Neurofibrillary Tangles with Calcification (D055956)
| ..Frontotemporal Lobar Degeneration (D057174) 12
| ..Huntington Disease (D006816) 3
| ..Huntington Disease-Like 2 (C564708)
| ..Jensen syndrome (C537568)
| ..Kluver-Bucy Syndrome (D020232) 1
| ..Kohlschutter Tonz syndrome (C537213)
| ..Lewy Body Disease (D020961) 3
| ..MAST Syndrome (C565409)
| ..Motor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
| ..Presenile dementia, Kraepelin type (C535273)
| ..Spastic Paraplegia, Optic Atrophy, And Dementia (C566679)
| ..Wright Dyck syndrome (C536749)
|
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
|
|
|
Term ID: | 3165 |
Name: | Dementia, familial Danish |
Definition: | |
Alternative IDs: | OMIM:117300 |
ParentIDs: | MESH:D002386|MESH:D002524|MESH:D003638|MESH:D003704 |
TreeNumbers: | C09.218.458.341.186/C538209 |C10.228.140.252.190/C538209 |C10.228.140.380/C538209 |C10.597.350.090.500/C538209 |C10.597.751.418.341.186/C538209 |C11.510.245/C538209 |C23.888.592.350.090.200/C538209 |C23.888.592.763.393.341.186/C538209 |F03.087.400/C538209 |
Synonyms: | CEREBELLAR ATAXIA, CATARACT, DEAFNESS, AND DEMENTIA OR PSYCHOSIS |Cerebral Amyloid Angiopathy, Itm2b-Related, 2 |DEMENTIA, FAMILIAL DANISH |Familial Danish dementia |FDD |Heredopathia ophthalmootoencephalica |HOOE |
Slim Mappings: | Ear-nose-throat disease|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms |
Reference: |
MedGen: C538209
MeSH: C538209
OMIM: 117300;
Genes: ITM2B; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_021999.4(ITM2B):c.786_795dupTTTAATTTGT (p.Ser266Phefs) | 9445 | ITM2B | Pathogenic | 606231166 | RCV000006346; | N | MedGen:C1861735,OMIM:117300,ORPHA:97346 | 13 | 48835345 | 48835354 | NM_021999.4:c.786_795dupTTTAATTTGT | NP_068839.1:p.Ser266Phefs | NC_000013.10:g.48835345_48835354dupTTTAATTTGT | OMIM Allelic Variant:603904.0002 | C1861735 117300 Dementia, familial Danish | | |
|
|