MCID: CHR105
MIFTS: 46

Choreoacanthocytosis

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Choreoacanthocytosis

MalaCards integrated aliases for Choreoacanthocytosis:

Name: Choreoacanthocytosis 54 12 23 50 24 25 51 56 71 29 13
Chorea-Acanthocytosis 12 23 50 24 25 56 71 52 14
Neuroacanthocytosis 12 50 51 71 52 42 14
Chac 23 50 24 25 56 71
Levine-Critchley Syndrome 12 51 56 71
Acanthocytosis with Neurologic Disorder 50 25 71
Chorea Acanthocytosis Syndrome 69
Neuroacanthocytosis Syndrome 50
Chorea Acanthocytosis 50

Characteristics:

Orphanet epidemiological data:

56
choreoacanthocytosis
Inheritance: Autosomal recessive; Age of onset: Adult;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
clinical variability
age of onset 23-59 years
neurologic findings closely resemble those of huntington disease (hd, )


HPO:

32
choreoacanthocytosis:
Onset and clinical course progressive
Mortality/Aging death in early adulthood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Choreoacanthocytosis

NINDS : 51 Neuroacanthocytosis refers to a group of genetic conditions that are characterized by movement disorders and acanthocytosis (abnormal, spiculated red blood cells). Four syndromes are classified as neuroacanthocytosis: Chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 (HDL2), and panthothenate kinase-associated neurodegeneration (PKAN). Acanthocytosis may not always be observed in HDL2 and PKAN. These disorders are caused by different genetic mutations, and the signs and symptoms vary, but usually include chorea (involuntary, dance-like movements), parkinsonism (slowness of movement), dystonia (abnormal body postures), and problems walking. There may also be muscle weakness, involuntary movements of the face and tongue, tongue/lip biting (which is mostly characteristic of Chorea-acanthocytosis), as well as difficulty with speech and eating, cognitive impairment, psychiatric symptoms, and seizures. Individuals with McLeod syndrome often have cardiac problems. Many features of these disorders are due to degeneration of the basal ganglia, a part of the brain that controls movement. Additional disorders that are also known have neurologic symptoms, acanthocytosis, and either lipoprotein disorders or systemic findings. The diagnosis of neuroacanthocytosis is typically based on the symptoms and clinical observation, a review of family history, and the evaluation of specific laboratory and imaging studies.

MalaCards based summary : Choreoacanthocytosis, also known as chorea-acanthocytosis, is related to mcleod syndrome with or without chronic granulomatous disease and choreoacanthocytosis amyotrophic, and has symptoms including short stature, nystagmus and dystonia. An important gene associated with Choreoacanthocytosis is VPS13A (Vacuolar Protein Sorting 13 Homolog A). Affiliated tissues include tongue, brain and skeletal muscle.

NIH Rare Diseases : 50 chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. the condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. chorea-acanthocytosis is caused by mutations in the vps13a gene and is inherited in an autosomal recessive manner. there are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive.  last updated: 8/21/2015

UniProtKB/Swiss-Prot : 71 Choreoacanthocytosis: An autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self- mutilation.

Genetics Home Reference : 25 Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of conditions called neuroacanthocytoses that involve neurological problems and abnormal red blood cells.

OMIM : 54
Choreoacanthocytosis (CHAC) is a rare disorder characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life (Rubio et al., 1997). See also McLeod syndrome (300842) for a phenotypically similar disorder. (200150)

Disease Ontology : 12 A neuroacanthocytosis that has material basis in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21; it is characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life.

Wikipedia : 72 Chorea-acanthocytosis (ChAc, also called Choreoacanthocytosis), is a rare hereditary disease caused by a... more...

GeneReviews: NBK1387

Related Diseases for Choreoacanthocytosis

Graphical network of the top 20 diseases related to Choreoacanthocytosis:



Diseases related to Choreoacanthocytosis

Symptoms & Phenotypes for Choreoacanthocytosis

Symptoms via clinical synopsis from OMIM:

54

Abdomen- Gastroin testinal:
dysphagia
drooling

Neurologic- Peripheral Nervous System:
hyporeflexia
areflexia

Laboratory- Abnormalities:
increased creatine kinase
normal serum lipoprotein levels

Head And Neck- Face:
orofacial dyskinesia

Head And Neck- Neck:
neck flexion, intermittent

Neurologic- Central Nervous System:
dystonia
dysarthria
hyporeflexia
seizures
parkinsonism
more
Neurologic- Behavioral Psychiatric Manifestations:
personality changes
psychosis
disinhibition
mood changes
anxiety
more
Skeletal- Feet:
pes cavus

Muscle Soft Tissue:
limb muscle weakness
limb muscular atrophy

Hematology:
acanthocytes


Clinical features from OMIM:

200150

Human phenotypes related to Choreoacanthocytosis:

56 32 (show top 50) (show all 81)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
3 dystonia 56 32 frequent (33%) Frequent (79-30%) HP:0001332
4 chorea 56 32 frequent (33%) Frequent (79-30%) HP:0002072
5 dysarthria 56 32 frequent (33%) Frequent (79-30%) HP:0001260
6 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
7 recurrent respiratory infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0002205
8 tremor 56 32 frequent (33%) Frequent (79-30%) HP:0001337
9 ventriculomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002119
10 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
11 splenomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001744
12 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
13 peripheral neuropathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0009830
14 fatigue 56 32 frequent (33%) Frequent (79-30%) HP:0012378
15 hypertrophic cardiomyopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001639
16 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
17 areflexia 56 32 frequent (33%) Frequent (79-30%) HP:0001284
18 myopathy 56 32 frequent (33%) Frequent (79-30%) HP:0003198
19 cerebral cortical atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0002120
20 memory impairment 56 32 frequent (33%) Frequent (79-30%) HP:0002354
21 malabsorption 56 32 occasional (7.5%) Occasional (29-5%) HP:0002024
22 feeding difficulties 56 32 occasional (7.5%) Occasional (29-5%) HP:0011968
23 self-injurious behavior 56 32 occasional (7.5%) Occasional (29-5%) HP:0100716
24 abdominal pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0002027
25 lymphadenopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002716
26 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
27 acute hepatic failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0006554
28 acanthocytosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001927
29 ascites 56 32 occasional (7.5%) Occasional (29-5%) HP:0001541
30 protruding tongue 56 32 frequent (33%) Frequent (79-30%) HP:0010808
31 weight loss 56 32 occasional (7.5%) Occasional (29-5%) HP:0001824
32 developmental regression 56 32 frequent (33%) Frequent (79-30%) HP:0002376
33 vasculitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002633
34 anxiety 56 32 frequent (33%) Frequent (79-30%) HP:0000739
35 difficulty in tongue movements 56 32 frequent (33%) Frequent (79-30%) HP:0000183
36 orofacial dyskinesia 56 32 frequent (33%) Frequent (79-30%) HP:0002310
37 gait disturbance 56 32 frequent (33%) Frequent (79-30%) HP:0001288
38 abnormal bleeding 56 32 frequent (33%) Frequent (79-30%) HP:0001892
39 distal upper limb muscle weakness 56 32 frequent (33%) Frequent (79-30%) HP:0008959
40 pallor 56 32 hallmark (90%) Very frequent (99-80%) HP:0000980
41 limb muscle weakness 56 32 frequent (33%) Frequent (79-30%) HP:0003690
42 attention deficit hyperactivity disorder 56 32 frequent (33%) Frequent (79-30%) HP:0007018
43 sleep disturbance 56 32 occasional (7.5%) Occasional (29-5%) HP:0002360
44 elevated hepatic transaminases 56 32 occasional (7.5%) Occasional (29-5%) HP:0002910
45 nausea and vomiting 56 32 occasional (7.5%) Occasional (29-5%) HP:0002017
46 abnormality of vision 56 32 frequent (33%) Frequent (79-30%) HP:0000504
47 elevated serum creatine phosphokinase 56 32 frequent (33%) Frequent (79-30%) HP:0003236
48 emg abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0003457
49 abnormality of the foot 56 32 occasional (7.5%) Occasional (29-5%) HP:0001760
50 dysgraphia 56 32 frequent (33%) Frequent (79-30%) HP:0010526

UMLS symptoms related to Choreoacanthocytosis:


seizures, personality changes, recurrent muscle twitches (symptom)

Drugs & Therapeutics for Choreoacanthocytosis

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Heart and Skeletal Muscle Problems in Neuroacanthocytosis Completed NCT00007228

Search NIH Clinical Center for Choreoacanthocytosis

Cochrane evidence based reviews: neuroacanthocytosis

Genetic Tests for Choreoacanthocytosis

Genetic tests related to Choreoacanthocytosis:

id Genetic test Affiliating Genes
1 Choreoacanthocytosis 29
2 Chorea-Acanthocytosis 24 VPS13A

Anatomical Context for Choreoacanthocytosis

MalaCards organs/tissues related to Choreoacanthocytosis:

39
Tongue, Brain, Skeletal Muscle, Eye, Heart, Skin, Thyroid

Publications for Choreoacanthocytosis

Articles related to Choreoacanthocytosis:

(show all 15)
id Title Authors Year
1
Choreoacanthocytosis in a Mexican family. ( 17998451 )
2007
2
A case of choreoacanthocytosis with marked weight loss: impact of orolingual dyskinesia. ( 16936394 )
2006
3
Early clinical heterogeneity in choreoacanthocytosis. ( 15824261 )
2005
4
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. ( 16060937 )
2005
5
Reduction of striatal glucose metabolism in McLeod choreoacanthocytosis. ( 11254778 )
2001
6
Case study: childhood-onset tardive dyskinesia versus choreoacanthocytosis. ( 10939235 )
2000
7
Choreoacanthocytosis. ( 7852238 )
1994
8
Choreoacanthocytosis with marked dysphagia and laryngeal dystonia. ( 1816230 )
1991
9
Diagnostic tests for choreoacanthocytosis. ( 1829792 )
1991
10
Neuropsychological deficits in choreoacanthocytosis. ( 2712754 )
1989
11
Choreoacanthocytosis in a Chinese patient--a case report. ( 2617308 )
1989
12
Amyotrophic choreoacanthocytosis: is it really a very rare disease? ( 3804706 )
1986
13
Evoked potentials in choreoacanthocytosis. ( 2419092 )
1986
14
Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome) ( 4058764 )
1985
15
Choreoacanthocytosis. Clues to clinical diagnosis. ( 6453575 )
1981

Variations for Choreoacanthocytosis

UniProtKB/Swiss-Prot genetic disease variations for Choreoacanthocytosis:

71
id Symbol AA change Variation ID SNP ID
1 VPS13A p.Ser1452Pro VAR_012803
2 VPS13A p.Ile90Lys VAR_038420 rs28939379
3 VPS13A p.Tyr2721Cys VAR_038421 rs781395681
4 VPS13A p.Ala1095Pro VAR_058116
5 VPS13A p.Trp2460Arg VAR_058120

ClinVar genetic disease variations for Choreoacanthocytosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 VPS13A NM_033305.2(VPS13A): c.269T> A (p.Ile90Lys) single nucleotide variant Pathogenic rs119477052 GRCh37 Chromosome 9, 79820310: 79820310
2 VPS13A VPS13A, 1-BP INS, 6404T insertion Pathogenic
3 VPS13A VPS13A, 260-BP DEL deletion Pathogenic
4 VPS13A NM_033305.2(VPS13A): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119477053 GRCh37 Chromosome 9, 79828156: 79828156
5 VPS13A VPS13A, 8035G-A deletion Pathogenic
6 VPS13A VPS13A, 1-BP DEL, 6059C deletion Pathogenic
7 VPS13A VPS13A, 7-KB DEL deletion Pathogenic
8 VPS13A VPS13A, 37-KB DEL deletion Pathogenic
9 VPS13A VPS13A, 2-BP DUP, 3556AC duplication Pathogenic
10 VPS13A VPS13A, TRP435TER undetermined variant Pathogenic

Expression for Choreoacanthocytosis

Search GEO for disease gene expression data for Choreoacanthocytosis.

Pathways for Choreoacanthocytosis

GO Terms for Choreoacanthocytosis

Biological processes related to Choreoacanthocytosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cellular calcium ion homeostasis GO:0006874 9.4 KEL XK
2 myelination GO:0042552 9.37 KEL XK
3 skeletal muscle fiber development GO:0048741 9.32 KEL XK
4 regulation of cell size GO:0008361 9.26 KEL XK
5 Golgi to endosome transport GO:0006895 9.16 VPS13A VPS13C
6 cellular magnesium ion homeostasis GO:0010961 8.96 KEL XK
7 regulation of axon diameter GO:0031133 8.62 KEL XK

Sources for Choreoacanthocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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