AHC1
MCID: ALT008
MIFTS: 21

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 58 76 30 6 74
Ahc1 58 76
Hemiplegia, Alternating, of Childhood, Type 1 41

Characteristics:

OMIM:

58
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:

33
alternating hemiplegia of childhood 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Alternating Hemiplegia of Childhood 1

OMIM : 58 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 nystagmus

UniProtKB/Swiss-Prot : 76 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 11.2

Symptoms & Phenotypes for Alternating Hemiplegia of Childhood 1

Human phenotypes related to Alternating Hemiplegia of Childhood 1:

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

Symptoms via clinical synopsis from OMIM:

58
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 30 ATP1A2

Anatomical Context for Alternating Hemiplegia of Childhood 1

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

42
Eye

Publications for Alternating Hemiplegia of Childhood 1

Articles related to Alternating Hemiplegia of Childhood 1:

# Title Authors Year
1
Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. ( 15174025 )
2004
2
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. ( 15286158 )
2004
3
Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait. ( 14667076 )
2003

Variations for Alternating Hemiplegia of Childhood 1

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

76
# Symbol AA change Variation ID SNP ID
1 ATP1A2 p.Thr378Asn VAR_019934 rs28934002

ClinVar genetic disease variations for Alternating Hemiplegia of Childhood 1:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A2 NM_000702.3(ATP1A2): c.1097G> A (p.Gly366Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 160098521: 160098521
2 ATP1A2 NM_000702.3(ATP1A2): c.1097G> A (p.Gly366Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 160128731: 160128731
3 ATP1A2 NM_000702.3(ATP1A2): c.2062G> T (p.Ala688Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 160135242: 160135242
4 ATP1A2 NM_000702.3(ATP1A2): c.2062G> T (p.Ala688Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 160105032: 160105032
5 ATP1A2 NM_000702.3(ATP1A2): c.2680G> T (p.Asp894Tyr) single nucleotide variant Uncertain significance rs1553245907 GRCh37 Chromosome 1, 160106476: 160106476
6 ATP1A2 NM_000702.3(ATP1A2): c.2680G> T (p.Asp894Tyr) single nucleotide variant Uncertain significance rs1553245907 GRCh38 Chromosome 1, 160136686: 160136686
7 ATP1A2 NM_000702.3(ATP1A2): c.889G> A (p.Ala297Thr) single nucleotide variant Uncertain significance rs181618883 GRCh38 Chromosome 1, 160127692: 160127692
8 ATP1A2 NM_000702.3(ATP1A2): c.889G> A (p.Ala297Thr) single nucleotide variant Uncertain significance rs181618883 GRCh37 Chromosome 1, 160097482: 160097482
9 ATP1A2 NM_000702.3(ATP1A2): c.2675T> C (p.Met892Thr) single nucleotide variant Uncertain significance rs794727222 GRCh38 Chromosome 1, 160136681: 160136681
10 ATP1A2 NM_000702.3(ATP1A2): c.2675T> C (p.Met892Thr) single nucleotide variant Uncertain significance rs794727222 GRCh37 Chromosome 1, 160106471: 160106471
11 ATP1A2 NM_000702.3(ATP1A2): c.1133C> A (p.Thr378Asn) single nucleotide variant Pathogenic rs28934002 GRCh38 Chromosome 1, 160128767: 160128767
12 ATP1A2 NM_000702.3(ATP1A2): c.1133C> A (p.Thr378Asn) single nucleotide variant Pathogenic rs28934002 GRCh37 Chromosome 1, 160098557: 160098557
13 ATP1A2 NM_000702.3(ATP1A2): c.2770G> A (p.Val924Met) single nucleotide variant Uncertain significance rs373276446 GRCh38 Chromosome 1, 160136961: 160136961
14 ATP1A2 NM_000702.3(ATP1A2): c.2770G> A (p.Val924Met) single nucleotide variant Uncertain significance rs373276446 GRCh37 Chromosome 1, 160106751: 160106751
15 ATP1A2 NM_000702.3(ATP1A2): c.1282C> T (p.Arg428Cys) single nucleotide variant Uncertain significance rs779985796 GRCh38 Chromosome 1, 160129045: 160129045
16 ATP1A2 NM_000702.3(ATP1A2): c.1282C> T (p.Arg428Cys) single nucleotide variant Uncertain significance rs779985796 GRCh37 Chromosome 1, 160098835: 160098835
17 ATP1A2 NM_000702.3(ATP1A2): c.1690C> T (p.Arg564Trp) single nucleotide variant Uncertain significance rs762330744 GRCh38 Chromosome 1, 160130460: 160130460
18 ATP1A2 NM_000702.3(ATP1A2): c.1690C> T (p.Arg564Trp) single nucleotide variant Uncertain significance rs762330744 GRCh37 Chromosome 1, 160100250: 160100250
19 ATP1A2 NM_000702.3(ATP1A2): c.192G> T (p.Gln64His) single nucleotide variant Uncertain significance rs796052282 GRCh38 Chromosome 1, 160123227: 160123227
20 ATP1A2 NM_000702.3(ATP1A2): c.192G> T (p.Gln64His) single nucleotide variant Uncertain significance rs796052282 GRCh37 Chromosome 1, 160093017: 160093017

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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