Details of Disease

General Information of Disease (ID: DISB31JE)

Disease Name Alternating hemiplegia of childhood
Synonyms
alternating hemiplegia syndrome; alternating hemiplegia; adrenal hypoplasia congenita; paediatric alternating hemiplegia; pediatric alternating hemiplegia; congenital adrenal gland hypoplasia; alternating hemiplegia of childhood; congenital adrenal Hypoplasia; childhood alternating hemiplegia; AHC
Definition A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.
Disease Hierarchy
DISVVH6I: Hemiplegia
DISYOKTG: Mendelian neurodevelopmental disorder
DIS25HMJ: Alternating hemiplegia
DISB31JE: Alternating hemiplegia of childhood
Disease Identifiers
MONDO ID
MONDO_0016241
MESH ID
C536589
UMLS CUI
C0338488
MedGen ID
90925
Orphanet ID
2131
SNOMED CT ID
230466004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ATP1A2 TT5B6HJ Supportive Autosomal dominant [1]
ADCY5 TTN64VU Strong Genetic Variation [2]
ATP1A2 TT5B6HJ Strong Altered Expression [3]
CACNA1A TTX4QDJ Strong Genetic Variation [4]
SLC1A3 TT8WRDA Strong Genetic Variation [5]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TANGO2 OTT9UI89 Limited Genetic Variation [6]
ATP1A2 OTCF8OWW Supportive Autosomal dominant [1]
ATP1A3 OTM8EG6H Supportive Autosomal dominant [7]
TBC1D24 OTKZUSMD Definitive Genetic Variation [8]
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References

1 A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. J Med Genet. 2004 Aug;41(8):621-8. doi: 10.1136/jmg.2003.017863.
2 Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases. J Pediatr. 2017 Feb;181:306-308.e1.
3 A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.Brain. 2019 Nov 1;142(11):3367-3374. doi: 10.1093/brain/awz272.
4 CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.Cephalalgia. 2008 Aug;28(8):887-91. doi: 10.1111/j.1468-2982.2008.01596.x. Epub 2008 May 21.
5 Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Arch Neurol. 2009 Jan;66(1):97-101. doi: 10.1001/archneurol.2008.535.
6 Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood-Expanding the Phenotype of a Recently Reported Condition.Neuropediatrics. 2019 Apr;50(2):122-125. doi: 10.1055/s-0038-1677514. Epub 2019 Jan 16.
7 De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.
8 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.Seizure. 2017 Apr;47:71-73. doi: 10.1016/j.seizure.2017.03.003. Epub 2017 Mar 6.