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Alternating hemiplegia of childhood
2 OMIM references -
4 associated genes
94 connected diseases
No signs/symptoms info
Disease Type of connection
Familial or sporadic hemiplegic migraine
Benign paroxysmal torticollis of infancy
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Familial paroxysmal ataxia
Rapid-onset dystonia-parkinsonism
Spinocerebellar ataxia type 6
Episodic ataxia type 6
Leber congenital amaurosis
Pseudohypoaldosteronism type 2E
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
Episodic ataxia type 5
Juvenile myoclonic epilepsy
Cobblestone lissencephaly without muscular or ocular involvement
Congenital fibrosis of extraocular muscles
Polymicrogyria due to TUBB2B mutation
Spinocerebellar ataxia type 1
Follicular lymphoma
Intravascular large B-cell lymphoma
Primary mediastinal large B-cell lymphoma
Behavioral variant of frontotemporal dementia
CLN11 disease
Carpenter syndrome
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Duchenne muscular dystrophy
Isolated CoQ-cytochrome C reductase deficiency
Postsynaptic congenital myasthenic syndromes
Progressive non-fluent aphasia
Semantic dementia
Achondrogenesis type 1A
Acrokeratosis verruciformis of Hopf
Acute inflammatory demyelinating polyradiculoneuropathy
Amyotrophic lateral sclerosis
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Larsen syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant macrothrombocytopenia
Autosomal recessive cutis laxa type 1
Blackfan-Diamond anemia
Boomerang dysplasia
CLN5 disease
Catecholaminergic polymorphic ventricular tachycardia
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1E
Darier disease
Dejerine-Sottas syndrome
Dentatorubral pallidoluysian atrophy
Distal hereditary motor neuropathy type 2
Dyssegmental dysplasia, Silverman-Handmaker type
Epilepsy with myoclonic-astatic seizures
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Familial drusen
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hereditary neuropathy with liability to pressure palsies
Intellectual deficiency - hypotonia - spasticity - sleep disorder
Intellectual deficit - craniofacial dysmorphism - cryptorchidism
Isolated delta-storage pool disease
Lennox-Gastaut syndrome
Lethal arteriopathy syndrome due to FBLN4 deficiency
Leukoencephalopathy - dystonia - motor neuropathy
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
Oligodontia
Paris-Trousseau thrombocytopenia
Partial chromosome Y deletion
Peripheral primitive neuroectodermal tumor
Roussy-Lévy syndrome
Schwartz-Jampel syndrome
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Spondylocarpotarsal synostosis
Synpolydactyly type 2
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
Total spina bifida aperta
Total spina bifida cystica
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
Von Willebrand disease type 1
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
X-linked non-syndromic intellectual deficit
Dehydratase deficiency
Synonym(s):
- AHC
- Alternating hemiplegia in childhood
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: C536589
Gene symbol UniProt reference OMIM reference
ATP1A2 P50993182340
ATP1A3 P13637182350
CACNA1A O00555601011
SLC1A3 P43003600111
No signs/symptoms info available.