AHC1
MCID: ALT008
MIFTS: 19

Alternating Hemiplegia of Childhood 1 (AHC1)

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Alternating Hemiplegia of Childhood 1

MalaCards integrated aliases for Alternating Hemiplegia of Childhood 1:

Name: Alternating Hemiplegia of Childhood 1 57 75 29 6 73
Ahc1 57 75
Hemiplegia, Alternating, of Childhood, Type 1 40

Characteristics:

OMIM:

57
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:

32
alternating hemiplegia of childhood 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 104290
MeSH 44 D006429
UMLS 73 C3549447

Summaries for Alternating Hemiplegia of Childhood 1

OMIM : 57 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 nystagmus and intellectual disability

UniProtKB/Swiss-Prot : 75 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 11.0

Symptoms & Phenotypes for Alternating Hemiplegia of Childhood 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Alternating Hemiplegia of Childhood 1:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 choreoathetosis 32 HP:0001266
4 mental deterioration 32 HP:0001268
5 dystonia 32 HP:0001332
6 generalized tonic-clonic seizures 32 frequent (33%) HP:0002069
7 episodic hemiplegia 32 HP:0012194
8 episodic quadriplegia 32 HP:0200072

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:

41
Eye

Publications for Alternating Hemiplegia of Childhood 1

Variations for Alternating Hemiplegia of Childhood 1

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

75
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A2 NM_000702.3(ATP1A2): c.1133C> A (p.Thr378Asn) single nucleotide variant Pathogenic rs28934002 GRCh37 Chromosome 1, 160098557: 160098557
2 ATP1A2 NM_000702.3(ATP1A2): c.1133C> A (p.Thr378Asn) single nucleotide variant Pathogenic rs28934002 GRCh38 Chromosome 1, 160128767: 160128767

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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