Cytoscape Web
Click node...

Huntington disease
1 OMIM reference -
1 associated gene
169 connected diseases
8 signs/symptoms
Disease Type of connection
Juvenile Huntington disease
Isolated NADH-CoQ reductase deficiency
Giant cell glioblastoma
Gliosarcoma
Amyotrophic lateral sclerosis
Autosomal dominant nonsyndromic intellectual deficit
Isolated cytochrome C oxidase deficiency
Leigh syndrome with leukodystrophy
Papillary or follicular thyroid carcinoma
Early infantile epileptic encephalopathy
Isolated CoQ-cytochrome C reductase deficiency
MELAS syndrome
Maternally-inherited Leigh syndrome
MODY syndrome
Acute promyelocytic leukemia
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Inflammatory myofibroblastic tumor
Translocation renal cell carcinoma
Classical homocystinuria
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Familial dysautonomia
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Monomelic amyotrophy
Autosomal agammaglobulinemia
SHORT syndrome
Spinocerebellar ataxia type 15 / 16
Spinocerebellar ataxia type 29
Parkinsonian-pyramidal syndrome
Young adult-onset Parkinsonism
Alexander disease type I
Alexander disease type II
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
CADDS
CLN2 disease
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Congenital contractural arachnodactyly
Congenital lethal myopathy, Compton-North type
Cystic fibrosis
Epileptic encephalopathy with global cerebral demyelination
Familial Alzheimer-like prion disease
Fatal familial insomnia
Genetic recurrent myoglobinuria
Gerstmann-Straussler-Scheinker syndrome
HSD10 disease, atypical type
HSD10 disease, infantile type
HSD10 disease, neonatal type
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
Leber hereditary optic neuropathy
Leigh syndrome with cardiomyopathy
Null syndrome
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, connatal form
Pelizaeus-Merzbacher disease, transitional form
Primary CD59 deficiency
Retinitis pigmentosa
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Spastic paraplegia type 2
X-linked non-syndromic intellectual deficit
Syndromic multisystem autoimmune disease due to Itch deficiency
Acute fatty liver of pregnancy
Adenosine monophosphate deaminase deficiency
Adult hypophosphatasia
Ataxia-telangiectasia-like disorder
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant centronuclear myopathy
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant methemoglobinemia
Autosomal dominant spastic paraplegia type 13
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Autosomal recessive primary microcephaly
Beta-thalassemia intermedia
Beta-thalassemia major
Cardiomyopathy - hypotonia - lactic acidosis
Childhood-onset hypophosphatasia
Delta-beta-thalassemia
Dominant beta-thalassemia
Ewing sarcoma
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial partial lipodystrophy associated with PPARG mutations
Familial short QT syndrome
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Generalized congenital lipodystrophy with myopathy
Genetic hyperferritinemia without iron overload
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to muscle beta-enolase deficiency
Heinz body anemia
Hemoglobin C - beta-thalassemia
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E - beta-thalassemia
Hemoglobin E disease
Hemoglobin Lepore - beta-thalassemia
Hereditary breast and ovarian cancer syndrome
Hereditary hyperferritinemia with congenital cataracts
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Infantile Refsum disease
Infantile hypophosphatasia
Inherited congenital spastic tetraplegia
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to a point mutation
Kostmann syndrome
Leigh syndrome with nephrotic syndrome
Lissencephaly due to TUBA1A mutation
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain acyl-CoA dehydrogenase deficiency
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Microphthalmia with limb anomalies
Mitochondrial trifunctional protein deficiency
Multiple acyl-CoA dehydrogenation deficiency, mild type
Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Narcolepsy-cataplexy
Neonatal adrenoleukodystrophy
Neuroferritinopathy
Odontohypophosphatasia
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Perinatal lethal hypophosphatasia
Pilocytic astrocytoma
Posterior polar cataract
Prenatal benign hypophosphatasia
Pyruvate dehydrogenase E2 deficiency
Pyruvate dehydrogenase E3 deficiency
Sickle cell - beta-thalassemia disease
Sickle cell - hemoglobin C disease
Sickle cell - hemoglobin D disease
Sickle cell - hemoglobin E disease
Sickle cell anemia
Triose phosphate-isomerase deficiency
Zellweger syndrome
Spinocerebellar ataxia type 17
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Cowden syndrome
Proteus syndrome
Autosomal recessive spastic paraplegia type 20
Hamel cerebro-palato-cardiac syndrome
Isolated Klippel-Feil syndrome
Melanoma of soft part
X-linked Opitz G / BBB syndrome
X-linked intellectual deficit, Golabi-Ito-Hall type
X-linked intellectual deficit, Porteous type
X-linked intellectual deficit, Sutherland-Haan type
Synonym(s):
- Huntington chorea
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D006816
Gene symbol UniProt reference OMIM reference
HTT P42858613004
Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Autosomal dominant inheritance
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- EEG anomalies
- Hypertonia / spasticity / rigidity / stiffness
- Movement disorder
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline