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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Hypotension (D007022)
Parent Node: Multiple System Atrophy (D019578)
Parent Node: Neurodegenerative Diseases (D019636)
..Starting node ..Shy-Drager Syndrome (D012791)
Child Nodes:
Sister Nodes:
..Familial apoceruloplasmin deficiency (C536004)
..Feigenbaum Bergeron Richardson syndrome (C536178)
..Heredodegenerative Disorders, Nervous System (D020271) 543
..Idiopathic basal ganglia calcification 1 (C536275)
..Lewy Body Disease (D020961) 3
..Motor Neuron Disease (D016472) 64
..Multiple System Atrophy (D019578) 21
..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
..Neuronal intranuclear inclusion disease (C537395)
..Olivopontocerebellar Atrophies (D009849) 15
..Paraneoplastic Syndromes, Nervous System (D020361) 10
..Parkinson Disease (D010300) 24
..PEHO syndrome (C536317)
..Postpoliomyelitis Syndrome (D016262)
..Prion Diseases (D017096) 12
..Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant (C565326)
..Shy-Drager Syndrome (D012791)
..Spastic Pseudosclerosis (C563024)
..Subacute Combined Degeneration (D052879)
..Tauopathies (D024801) 32
..TDP-43 Proteinopathies (D057177) 32
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10216
Name:	Shy-Drager Syndrome
Definition:	A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)
Alternative IDs:
ParentIDs:	MESH:D007022\|MESH:D019578\|MESH:D019636
TreeNumbers:	C10.177.575.550.750 \|C10.228.140.079.612.700 \|C10.228.662.550.700 \|C10.574.625.700 \|C10.574.875 \|C14.907.514.741
Synonyms:	Autonomic Failure, Progressive \|Autonomic Failures, Progressive \|Dysautonomia Orthostatic Hypotension Syndrome \|Dysautonomia-Orthostatic Hypotension Syndrome \|Dysautonomia-Orthostatic Hypotension Syndromes \|Dysautonomic Orthostatic Hypotension \|Dysautonomic Or
Slim Mappings:	Cardiovascular disease\|Nervous system disease
Reference:	MedGen: D012791 MeSH: D012791 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants