AHC1
MCID: ALT008
MIFTS: 25

Alternating Hemiplegia of Childhood 1 (AHC1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Alternating Hemiplegia of Childhood 1

MalaCards integrated aliases for Alternating Hemiplegia of Childhood 1:

Name: Alternating Hemiplegia of Childhood 1 56 73 29 6 71
Ahc1 56 73
Hemiplegia, Alternating, of Childhood, Type 1 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset before 18 months of age
favorable response to flunarizine
familial hemiplegic migraine-2 (fhm2, ) is an allelic disorder with an overlapping phenotype


HPO:

31
alternating hemiplegia of childhood 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 104290
OMIM Phenotypic Series 56 PS104290
MeSH 43 D006429
UMLS 71 C3549447

Summaries for Alternating Hemiplegia of Childhood 1

OMIM : 56 Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment (Mikati et al., 1992). The disorder may mimic or overlap with other disorders, including familial hemiplegic migraine (FHM1; 141500) and GLUT1 deficiency syndrome (606777) (Rotstein et al., 2009). (104290)

MalaCards based summary : Alternating Hemiplegia of Childhood 1, also known as ahc1, is related to alternating hemiplegia of childhood 2. An important gene associated with Alternating Hemiplegia of Childhood 1 is ATP1A2 (ATPase Na+/K+ Transporting Subunit Alpha 2). Affiliated tissues include eye, and related phenotypes are generalized tonic-clonic seizures and intellectual disability

UniProtKB/Swiss-Prot : 73 Alternating hemiplegia of childhood 1: A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age.

Related Diseases for Alternating Hemiplegia of Childhood 1

Diseases in the Alternating Hemiplegia of Childhood family:

Alternating Hemiplegia of Childhood 1 Alternating Hemiplegia of Childhood 2

Diseases related to Alternating Hemiplegia of Childhood 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alternating hemiplegia of childhood 2 11.3

Symptoms & Phenotypes for Alternating Hemiplegia of Childhood 1

Human phenotypes related to Alternating Hemiplegia of Childhood 1:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 31 frequent (33%) HP:0002069
2 intellectual disability 31 HP:0001249
3 nystagmus 31 HP:0000639
4 dystonia 31 HP:0001332
5 mental deterioration 31 HP:0001268
6 choreoathetosis 31 HP:0001266
7 episodic hemiplegia 31 HP:0012194
8 episodic quadriplegia 31 HP:0200072

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
abnormal extraocular movements
upward eye deviation during episodes

Neurologic Central Nervous System:
dystonia
choreoathetosis
mental retardation
hemiplegia, episodic
quadriplegia, episodic
more

Clinical features from OMIM:

104290

Drugs & Therapeutics for Alternating Hemiplegia of Childhood 1

Search Clinical Trials , NIH Clinical Center for Alternating Hemiplegia of Childhood 1

Genetic Tests for Alternating Hemiplegia of Childhood 1

Genetic tests related to Alternating Hemiplegia of Childhood 1:

# Genetic test Affiliating Genes
1 Alternating Hemiplegia of Childhood 1 29 ATP1A2

Anatomical Context for Alternating Hemiplegia of Childhood 1

MalaCards organs/tissues related to Alternating Hemiplegia of Childhood 1:

40
Eye

Publications for Alternating Hemiplegia of Childhood 1

Articles related to Alternating Hemiplegia of Childhood 1:

(show all 15)
# Title Authors PMID Year
1
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. 56 6
15286158 2004
2
Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. 56 6
15174025 2004
3
Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait. 56 6
14667076 2003
4
Glut1 deficiency and alternating hemiplegia of childhood. 56
19996082 2009
5
Alternating hemiplegia of childhood in half-sisters. 56
10695898 2000
6
Alternating hemiplegia of childhood. 56
8496742 1993
7
A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. 56
1361034 1992
8
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 61
30690204 2020
9
Selection of suitable reference genes for gene expression studies in myxosporean (Myxozoa, Cnidaria) parasites. 61
31636316 2019
10
Histone H3K56 acetylation, Rad52, and non-DNA repair factors control double-strand break repair choice with the sister chromatid. 61
23357952 2013
11
Benign nocturnal alternating hemiplegia of childhood: two cases with positive evolution. 61
20817433 2011
12
Genetic analysis implicates the Set3/Hos2 histone deacetylase in the deposition and remodeling of nucleosomes containing H2A.Z. 61
21288874 2011
13
Development of a sensitive polymerase chain reaction method for the detection of Toxoplasma gondii in water. 61
15318524 2004
14
A Gal4-sigma 54 hybrid protein that functions as a potent activator of RNA polymerase II transcription in yeast. 61
11313364 2001
15
The ADA complex is a distinct histone acetyltransferase complex in Saccharomyces cerevisiae. 61
10490601 1999

Variations for Alternating Hemiplegia of Childhood 1

ClinVar genetic disease variations for Alternating Hemiplegia of Childhood 1:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP1A2 NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn)SNV Pathogenic 12921 rs28934002 1:160098557-160098557 1:160128767-160128767
2 ATP1A2 NM_000702.4(ATP1A2):c.1690C>T (p.Arg564Trp)SNV Uncertain significance 204908 rs762330744 1:160100250-160100250 1:160130460-160130460
3 ATP1A2 NM_000702.4(ATP1A2):c.192G>T (p.Gln64His)SNV Uncertain significance 204910 rs796052282 1:160093017-160093017 1:160123227-160123227
4 ATP1A2 NM_000702.4(ATP1A2):c.2675T>C (p.Met892Thr)SNV Uncertain significance 194925 rs794727222 1:160106471-160106471 1:160136681-160136681
5 ATP1A2 NM_000702.4(ATP1A2):c.1097G>A (p.Gly366Asp)SNV Uncertain significance 567135 rs1057518514 1:160098521-160098521 1:160128731-160128731
6 ATP1A2 NM_000702.4(ATP1A2):c.2062G>T (p.Ala688Ser)SNV Uncertain significance 575386 rs200425518 1:160105032-160105032 1:160135242-160135242
7 ATP1A2 NM_000702.4(ATP1A2):c.2680G>T (p.Asp894Tyr)SNV Uncertain significance 446872 rs1553245907 1:160106476-160106476 1:160136686-160136686
8 ATP1A2 NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr)SNV Uncertain significance 430293 rs181618883 1:160097482-160097482 1:160127692-160127692
9 ATP1A2 NM_000702.4(ATP1A2):c.2770G>A (p.Val924Met)SNV Uncertain significance 390229 rs373276446 1:160106751-160106751 1:160136961-160136961
10 ATP1A2 NM_000702.4(ATP1A2):c.1282C>T (p.Arg428Cys)SNV Uncertain significance 387342 rs779985796 1:160098835-160098835 1:160129045-160129045

UniProtKB/Swiss-Prot genetic disease variations for Alternating Hemiplegia of Childhood 1:

73
# Symbol AA change Variation ID SNP ID
1 ATP1A2 p.Thr378Asn VAR_019934 rs28934002

Expression for Alternating Hemiplegia of Childhood 1

Search GEO for disease gene expression data for Alternating Hemiplegia of Childhood 1.

Pathways for Alternating Hemiplegia of Childhood 1

GO Terms for Alternating Hemiplegia of Childhood 1

Sources for Alternating Hemiplegia of Childhood 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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