AHC2
MCID: ALT007
MIFTS: 20

Alternating Hemiplegia of Childhood 2 (AHC2)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Alternating Hemiplegia of Childhood 2

MalaCards integrated aliases for Alternating Hemiplegia of Childhood 2:

Name: Alternating Hemiplegia of Childhood 2 57 75 29 13 6 73
Ahc2 57 75
Hemiplegia, Alternating, of Childhood, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset before 18 months of age
variable severity and progression
abrupt onset of episodes
episodes may be triggered by physical or emotional stress
flunarizine treatment may be beneficial
most cases due to de novo mutation


HPO:

32
alternating hemiplegia of childhood 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Alternating Hemiplegia of Childhood 2

UniProtKB/Swiss-Prot : 75 Alternating hemiplegia of childhood 2: 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.

MalaCards based summary : Alternating Hemiplegia of Childhood 2, is also known as ahc2, and has symptoms including seizures and ataxia. An important gene associated with Alternating Hemiplegia of Childhood 2 is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3). Related phenotypes are nystagmus and intellectual disability

OMIM : 57 Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012). For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (104290). (614820)

Related Diseases for Alternating Hemiplegia of Childhood 2

Diseases in the Alternating Hemiplegia of Childhood family:

Alternating Hemiplegia of Childhood 1 Alternating Hemiplegia of Childhood 2

Symptoms & Phenotypes for Alternating Hemiplegia of Childhood 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
abnormal extraocular movements

Respiratory:
respiratory disturbances

Neurologic Central Nervous System:
intellectual disability
seizures
ataxia
dysarthria
dystonia
more

Clinical features from OMIM:

614820

Human phenotypes related to Alternating Hemiplegia of Childhood 2:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 ataxia 32 HP:0001251
4 dysarthria 32 HP:0001260
5 global developmental delay 32 HP:0001263
6 dystonia 32 HP:0001332
7 status epilepticus 32 HP:0002133
8 mental deterioration 32 HP:0001268
9 choreoathetosis 32 HP:0001266
10 hemiplegia 32 HP:0002301
11 episodic quadriplegia 32 HP:0200072

UMLS symptoms related to Alternating Hemiplegia of Childhood 2:


seizures, ataxia

Drugs & Therapeutics for Alternating Hemiplegia of Childhood 2

Search Clinical Trials , NIH Clinical Center for Alternating Hemiplegia of Childhood 2

Genetic Tests for Alternating Hemiplegia of Childhood 2

Genetic tests related to Alternating Hemiplegia of Childhood 2:

# Genetic test Affiliating Genes
1 Alternating Hemiplegia of Childhood 2 29 ATP1A3

Anatomical Context for Alternating Hemiplegia of Childhood 2

Publications for Alternating Hemiplegia of Childhood 2

Variations for Alternating Hemiplegia of Childhood 2

UniProtKB/Swiss-Prot genetic disease variations for Alternating Hemiplegia of Childhood 2:

75 (show all 23)
# Symbol AA change Variation ID SNP ID
1 ATP1A3 p.Ser137Phe VAR_068935 rs542652468
2 ATP1A3 p.Ser137Tyr VAR_068936 rs542652468
3 ATP1A3 p.Gln140Leu VAR_068937 rs606231427
4 ATP1A3 p.Asp220Asn VAR_068938
5 ATP1A3 p.Ile274Asn VAR_068939 rs80356532
6 ATP1A3 p.Cys333Phe VAR_068940 rs606231430
7 ATP1A3 p.Gly755Ser VAR_068941 rs557052809
8 ATP1A3 p.Asn773Ser VAR_068942 rs606231437
9 ATP1A3 p.Asp801Asn VAR_068943 rs80356537
10 ATP1A3 p.Met806Arg VAR_068944 rs549006436
11 ATP1A3 p.Ile810Ser VAR_068945 rs536681257
12 ATP1A3 p.Ser811Pro VAR_068946 rs387907282
13 ATP1A3 p.Glu815Lys VAR_068947 rs387907281
14 ATP1A3 p.Gly947Arg VAR_068950 rs398122887
15 ATP1A3 p.Ala955Asp VAR_068951 rs606231446
16 ATP1A3 p.Asp992Tyr VAR_068952 rs606231447
17 ATP1A3 p.Val322Asp VAR_070767 rs606231428
18 ATP1A3 p.Leu371Pro VAR_070768 rs606231433
19 ATP1A3 p.Gly755Cys VAR_070769 rs557052809
20 ATP1A3 p.Ser772Arg VAR_070770 rs534926223
21 ATP1A3 p.Asn773Ile VAR_070771 rs606231437
22 ATP1A3 p.Asp923Tyr VAR_070773 rs267606670
23 ATP1A3 p.Cys927Tyr VAR_070774 rs606231444

ClinVar genetic disease variations for Alternating Hemiplegia of Childhood 2:

6 (show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A3 NM_152296.3(ATP1A3): c.2767G> A (p.Asp923Asn) single nucleotide variant Pathogenic rs267606670 GRCh37 Chromosome 19, 42472989: 42472989
2 ATP1A3 NM_152296.3(ATP1A3): c.2767G> A (p.Asp923Asn) single nucleotide variant Pathogenic rs267606670 GRCh38 Chromosome 19, 41968837: 41968837
3 ATP1A3 NM_152296.5(ATP1A3): c.2401G> A (p.Asp801Asn) single nucleotide variant Pathogenic rs80356537 GRCh37 Chromosome 19, 42474557: 42474557
4 ATP1A3 NM_152296.5(ATP1A3): c.2401G> A (p.Asp801Asn) single nucleotide variant Pathogenic rs80356537 GRCh38 Chromosome 19, 41970405: 41970405
5 ATP1A3 NM_152296.4(ATP1A3): c.2443G> A (p.Glu815Lys) single nucleotide variant Pathogenic rs387907281 GRCh37 Chromosome 19, 42474436: 42474436
6 ATP1A3 NM_152296.4(ATP1A3): c.2443G> A (p.Glu815Lys) single nucleotide variant Pathogenic rs387907281 GRCh38 Chromosome 19, 41970284: 41970284
7 ATP1A3 NM_152296.4(ATP1A3): c.2431T> C (p.Ser811Pro) single nucleotide variant Pathogenic rs387907282 GRCh37 Chromosome 19, 42474448: 42474448
8 ATP1A3 NM_152296.4(ATP1A3): c.2431T> C (p.Ser811Pro) single nucleotide variant Pathogenic rs387907282 GRCh38 Chromosome 19, 41970296: 41970296
9 ATP1A3 NM_152296.4(ATP1A3): c.2839G> A (p.Gly947Arg) single nucleotide variant Pathogenic rs398122887 GRCh37 Chromosome 19, 42471896: 42471896
10 ATP1A3 NM_152296.4(ATP1A3): c.2839G> A (p.Gly947Arg) single nucleotide variant Pathogenic rs398122887 GRCh38 Chromosome 19, 41967744: 41967744
11 ATP1A3 NM_152296.4(ATP1A3): c.2839G> C (p.Gly947Arg) single nucleotide variant Pathogenic rs398122887 GRCh38 Chromosome 19, 41967744: 41967744
12 ATP1A3 NM_152296.4(ATP1A3): c.2839G> C (p.Gly947Arg) single nucleotide variant Pathogenic rs398122887 GRCh37 Chromosome 19, 42471896: 42471896
13 ATP1A3 NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs587777771 GRCh38 Chromosome 19, 41970275: 41970275
14 ATP1A3 NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs587777771 GRCh37 Chromosome 19, 42474427: 42474427
15 ATP1A3 NM_152296.4(ATP1A3): c.1323G> A (p.Ala441=) single nucleotide variant Conflicting interpretations of pathogenicity rs34578730 GRCh37 Chromosome 19, 42485768: 42485768
16 ATP1A3 NM_152296.4(ATP1A3): c.1323G> A (p.Ala441=) single nucleotide variant Conflicting interpretations of pathogenicity rs34578730 GRCh38 Chromosome 19, 41981616: 41981616
17 ATP1A3 NM_152296.4(ATP1A3): c.2974G> T (p.Asp992Tyr) single nucleotide variant Pathogenic rs606231447 GRCh38 Chromosome 19, 41967288: 41967288
18 ATP1A3 NM_152296.4(ATP1A3): c.2974G> T (p.Asp992Tyr) single nucleotide variant Pathogenic rs606231447 GRCh37 Chromosome 19, 42471440: 42471440
19 ATP1A3 NM_152296.4(ATP1A3): c.2864C> A (p.Ala955Asp) single nucleotide variant Pathogenic rs606231446 GRCh38 Chromosome 19, 41967719: 41967719
20 ATP1A3 NM_152296.4(ATP1A3): c.2864C> A (p.Ala955Asp) single nucleotide variant Pathogenic rs606231446 GRCh37 Chromosome 19, 42471871: 42471871
21 ATP1A3 NM_152296.4(ATP1A3): c.2781C> G (p.Cys927Trp) single nucleotide variant Pathogenic rs606231445 GRCh38 Chromosome 19, 41968823: 41968823
22 ATP1A3 NM_152296.4(ATP1A3): c.2781C> G (p.Cys927Trp) single nucleotide variant Pathogenic rs606231445 GRCh37 Chromosome 19, 42472975: 42472975
23 ATP1A3 NM_152296.4(ATP1A3): c.2780G> T (p.Cys927Phe) single nucleotide variant Pathogenic rs606231444 GRCh38 Chromosome 19, 41968824: 41968824
24 ATP1A3 NM_152296.4(ATP1A3): c.2780G> T (p.Cys927Phe) single nucleotide variant Pathogenic rs606231444 GRCh37 Chromosome 19, 42472976: 42472976
25 ATP1A3 NM_152296.4(ATP1A3): c.2780G> A (p.Cys927Tyr) single nucleotide variant Pathogenic rs606231444 GRCh38 Chromosome 19, 41968824: 41968824
26 ATP1A3 NM_152296.4(ATP1A3): c.2780G> A (p.Cys927Tyr) single nucleotide variant Pathogenic rs606231444 GRCh37 Chromosome 19, 42472976: 42472976
27 ATP1A3 NM_152296.4(ATP1A3): c.2767G> T (p.Asp923Tyr) single nucleotide variant Pathogenic rs267606670 GRCh38 Chromosome 19, 41968837: 41968837
28 ATP1A3 NM_152296.4(ATP1A3): c.2767G> T (p.Asp923Tyr) single nucleotide variant Pathogenic rs267606670 GRCh37 Chromosome 19, 42472989: 42472989
29 ATP1A3 NM_152296.4(ATP1A3): c.2755_2757delGTC (p.Val919del) deletion Pathogenic rs606231443 GRCh38 Chromosome 19, 41968847: 41968849
30 ATP1A3 NM_152296.4(ATP1A3): c.2755_2757delGTC (p.Val919del) deletion Pathogenic rs606231443 GRCh37 Chromosome 19, 42472999: 42473001
31 ATP1A3 NM_152296.4(ATP1A3): c.2600G> A (p.Gly867Asp) single nucleotide variant Pathogenic rs606231442 GRCh38 Chromosome 19, 41969523: 41969523
32 ATP1A3 NM_152296.4(ATP1A3): c.2600G> A (p.Gly867Asp) single nucleotide variant Pathogenic rs606231442 GRCh37 Chromosome 19, 42473675: 42473675
33 ATP1A3 NM_152296.4(ATP1A3): c.2542+1G> A single nucleotide variant Pathogenic rs606231441 GRCh38 Chromosome 19, 41970184: 41970184
34 ATP1A3 NM_152296.4(ATP1A3): c.2542+1G> A single nucleotide variant Pathogenic rs606231441 GRCh37 Chromosome 19, 42474336: 42474336
35 ATP1A3 NM_152296.4(ATP1A3): c.2429T> G (p.Ile810Ser) single nucleotide variant Pathogenic rs536681257 GRCh38 Chromosome 19, 41970298: 41970298
36 ATP1A3 NM_152296.4(ATP1A3): c.2429T> G (p.Ile810Ser) single nucleotide variant Pathogenic rs536681257 GRCh37 Chromosome 19, 42474450: 42474450
37 ATP1A3 NM_152296.4(ATP1A3): c.2428A> T (p.Ile810Phe) single nucleotide variant Pathogenic rs606231440 GRCh38 Chromosome 19, 41970299: 41970299
38 ATP1A3 NM_152296.4(ATP1A3): c.2428A> T (p.Ile810Phe) single nucleotide variant Pathogenic rs606231440 GRCh37 Chromosome 19, 42474451: 42474451
39 ATP1A3 NM_152296.5(ATP1A3): c.2417T> G (p.Met806Arg) single nucleotide variant Likely pathogenic rs549006436 GRCh38 Chromosome 19, 41970389: 41970389
40 ATP1A3 NM_152296.5(ATP1A3): c.2417T> G (p.Met806Arg) single nucleotide variant Likely pathogenic rs549006436 GRCh37 Chromosome 19, 42474541: 42474541
41 ATP1A3 NM_152296.4(ATP1A3): c.2415C> G (p.Asp805Glu) single nucleotide variant Pathogenic rs606231439 GRCh38 Chromosome 19, 41970391: 41970391
42 ATP1A3 NM_152296.4(ATP1A3): c.2415C> G (p.Asp805Glu) single nucleotide variant Pathogenic rs606231439 GRCh37 Chromosome 19, 42474543: 42474543
43 ATP1A3 NM_152296.4(ATP1A3): c.2411C> T (p.Thr804Ile) single nucleotide variant Pathogenic rs606231438 GRCh38 Chromosome 19, 41970395: 41970395
44 ATP1A3 NM_152296.4(ATP1A3): c.2411C> T (p.Thr804Ile) single nucleotide variant Pathogenic rs606231438 GRCh37 Chromosome 19, 42474547: 42474547
45 ATP1A3 NM_152296.4(ATP1A3): c.2318A> T (p.Asn773Ile) single nucleotide variant Pathogenic rs606231437 GRCh38 Chromosome 19, 41970488: 41970488
46 ATP1A3 NM_152296.4(ATP1A3): c.2318A> T (p.Asn773Ile) single nucleotide variant Pathogenic rs606231437 GRCh37 Chromosome 19, 42474640: 42474640
47 ATP1A3 NM_152296.4(ATP1A3): c.2318A> G (p.Asn773Ser) single nucleotide variant Pathogenic rs606231437 GRCh38 Chromosome 19, 41970488: 41970488
48 ATP1A3 NM_152296.4(ATP1A3): c.2318A> G (p.Asn773Ser) single nucleotide variant Pathogenic rs606231437 GRCh37 Chromosome 19, 42474640: 42474640
49 ATP1A3 NM_152296.4(ATP1A3): c.2316C> A (p.Ser772Arg) single nucleotide variant Pathogenic rs534926223 GRCh38 Chromosome 19, 41970490: 41970490
50 ATP1A3 NM_152296.4(ATP1A3): c.2316C> A (p.Ser772Arg) single nucleotide variant Pathogenic rs534926223 GRCh37 Chromosome 19, 42474642: 42474642

Expression for Alternating Hemiplegia of Childhood 2

Search GEO for disease gene expression data for Alternating Hemiplegia of Childhood 2.

Pathways for Alternating Hemiplegia of Childhood 2

GO Terms for Alternating Hemiplegia of Childhood 2

Sources for Alternating Hemiplegia of Childhood 2

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