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 53 12 23 49 24 50 55 71 36 28 13
Neuroacanthocytosis 53 12 72 49 24 50 71 51 41 14
Chorea-Acanthocytosis 53 12 23 49 24 55 71 51 14
Chac 53 23 49 24 55 71
Levine-Critchley Syndrome 53 12 50 55 71
Acanthocytosis with Neurologic Disorder 53 49 71
Chorea Acanthocytosis 72 49
Chorea Acanthocytosis Syndrome 69
Neuroacanthocytosis Syndrome 49
Acanthocytosis Chorea 72

Characteristics:

Orphanet epidemiological data:

55
choreoacanthocytosis
Inheritance: Autosomal recessive; Age of onset: Adult;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
choreoacanthocytosis:
Mortality/Aging death in early adulthood
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Choreoacanthocytosis

NINDS : 50 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 neuroacanthocytosis, is related to mcleod syndrome and choreatic disease, and has symptoms including ataxia, fatigue and seizures. An important gene associated with Choreoacanthocytosis is VPS13A (Vacuolar Protein Sorting 13 Homolog A). Affiliated tissues include tongue, brain and eye.

OMIM : 53 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)

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.

NIH Rare Diseases : 49 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

Genetics Home Reference : 24 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.

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:

53
Neurologic Central Nervous System:
seizures
dystonia
dysarthria
hyporeflexia
parkinsonism
more
Abdomen Gastroin testinal:
dysphagia
drooling

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

Head And Neck Face:
orofacial dyskinesia

Hematology:
acanthocytes

Neurologic Behavioral Psychiatric Manifestations:
personality changes
anxiety
psychosis
disinhibition
mood changes
more
Skeletal Feet:
pes cavus

Muscle Soft Tissue:
limb muscle weakness
limb muscular atrophy

Head And Neck Neck:
neck flexion, intermittent

Laboratory Abnormalities:
increased creatine kinase
normal serum lipoprotein levels


Clinical features from OMIM:

200150

Human phenotypes related to Choreoacanthocytosis:

55 31 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 fatigue 55 31 frequent (33%) Frequent (79-30%) HP:0012378
3 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
4 tremor 55 31 frequent (33%) Frequent (79-30%) HP:0001337
5 abdominal pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0002027
6 nausea and vomiting 55 31 occasional (7.5%) Occasional (29-5%) HP:0002017
7 dystonia 55 31 frequent (33%) Frequent (79-30%) HP:0001332
8 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
9 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
10 dysarthria 55 31 frequent (33%) Frequent (79-30%) HP:0001260
11 gait disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0001288
12 chorea 55 31 frequent (33%) Frequent (79-30%) HP:0002072
13 sleep disturbance 55 31 occasional (7.5%) Occasional (29-5%) HP:0002360
14 developmental regression 55 31 frequent (33%) Frequent (79-30%) HP:0002376
15 self-injurious behavior 55 31 occasional (7.5%) Occasional (29-5%) HP:0100716
16 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
17 splenomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001744
18 recurrent respiratory infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0002205
19 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
20 malabsorption 55 31 occasional (7.5%) Occasional (29-5%) HP:0002024
21 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
22 myopathy 55 31 frequent (33%) Frequent (79-30%) HP:0003198
23 abnormality of vision 55 31 frequent (33%) Frequent (79-30%) HP:0000504
24 hypertrophic cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001639
25 elevated serum creatine phosphokinase 55 31 frequent (33%) Frequent (79-30%) HP:0003236
26 emg abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0003457
27 ascites 55 31 occasional (7.5%) Occasional (29-5%) HP:0001541
28 pallor 55 31 hallmark (90%) Very frequent (99-80%) HP:0000980
29 abnormal bleeding 55 31 frequent (33%) Frequent (79-30%) HP:0001892
30 weight loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0001824
31 peripheral neuropathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0009830
32 feeding difficulties 55 31 occasional (7.5%) Occasional (29-5%) HP:0011968
33 attention deficit hyperactivity disorder 55 31 frequent (33%) Frequent (79-30%) HP:0007018
34 anxiety 55 31 frequent (33%) Frequent (79-30%) HP:0000739
35 elevated hepatic transaminases 55 31 occasional (7.5%) Occasional (29-5%) HP:0002910
36 abnormality of the foot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001760
37 ventriculomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002119
38 cerebral cortical atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0002120
39 memory impairment 55 31 frequent (33%) Frequent (79-30%) HP:0002354
40 protruding tongue 55 31 frequent (33%) Frequent (79-30%) HP:0010808
41 areflexia 55 31 frequent (33%) Frequent (79-30%) HP:0001284
42 dysgraphia 55 31 frequent (33%) Frequent (79-30%) HP:0010526
43 acute hepatic failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0006554
44 vasculitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002633
45 lymphadenopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002716
46 abnormality of the thyroid gland 55 31 occasional (7.5%) Occasional (29-5%) HP:0000820
47 muscle fiber atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0100295
48 limb muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0003690
49 abnormal urinary color 55 31 frequent (33%) Frequent (79-30%) HP:0012086
50 acanthocytosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001927

UMLS symptoms related to Choreoacanthocytosis:


recurrent muscle twitches (symptom), personality changes, seizures

Drugs & Therapeutics for Choreoacanthocytosis

Interventional clinical trials:


# 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:

# Genetic test Affiliating Genes
1 Choreoacanthocytosis 28 VPS13A

Anatomical Context for Choreoacanthocytosis

MalaCards organs/tissues related to Choreoacanthocytosis:

38
Tongue, Brain, Eye, Skeletal Muscle, Skin, Heart, Thyroid

Publications for Choreoacanthocytosis

Articles related to Choreoacanthocytosis:

(show all 16)
# Title Authors Year
1
Sarcoidosis: a rare cause of Kleine-Levine-Critchley syndrome. ( 19070262 )
2008
2
Choreoacanthocytosis in a Mexican family. ( 17998451 )
2007
3
A case of choreoacanthocytosis with marked weight loss: impact of orolingual dyskinesia. ( 16936394 )
2006
4
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. ( 16060937 )
2005
5
Early clinical heterogeneity in choreoacanthocytosis. ( 15824261 )
2005
6
Reduction of striatal glucose metabolism in McLeod choreoacanthocytosis. ( 11254778 )
2001
7
Case study: childhood-onset tardive dyskinesia versus choreoacanthocytosis. ( 10939235 )
2000
8
Choreoacanthocytosis. ( 7852238 )
1994
9
Choreoacanthocytosis with marked dysphagia and laryngeal dystonia. ( 1816230 )
1991
10
Diagnostic tests for choreoacanthocytosis. ( 1829792 )
1991
11
Choreoacanthocytosis in a Chinese patient--a case report. ( 2617308 )
1989
12
Neuropsychological deficits in choreoacanthocytosis. ( 2712754 )
1989
13
Evoked potentials in choreoacanthocytosis. ( 2419092 )
1986
14
Amyotrophic choreoacanthocytosis: is it really a very rare disease? ( 3804706 )
1986
15
Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome) ( 4058764 )
1985
16
Choreoacanthocytosis. Clues to clinical diagnosis. ( 6453575 )
1981

Variations for Choreoacanthocytosis

UniProtKB/Swiss-Prot genetic disease variations for Choreoacanthocytosis:

71
# Symbol AA change Variation ID SNP ID
1 VPS13A p.Ser1452Pro VAR_012803
2 VPS13A p.Ile90Lys VAR_038420 rs119477052
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
# Gene Variation Type Significance SNP ID Assembly Location
1 VPS13A VPS13A, TRP435TER undetermined variant Pathogenic
2 VPS13A VPS13A, 2-BP DUP, 3556AC duplication Pathogenic
3 VPS13A VPS13A, 37-KB DEL deletion Pathogenic
4 VPS13A VPS13A, 7-KB DEL deletion Pathogenic
5 VPS13A NM_033305.2(VPS13A): c.269T> A (p.Ile90Lys) single nucleotide variant Pathogenic rs119477052 GRCh37 Chromosome 9, 79820310: 79820310
6 VPS13A VPS13A, 1-BP INS, 6404T insertion Pathogenic
7 VPS13A VPS13A, 260-BP DEL deletion Pathogenic
8 VPS13A NM_033305.2(VPS13A): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119477053 GRCh37 Chromosome 9, 79828156: 79828156
9 VPS13A VPS13A, 8035G-A deletion Pathogenic
10 VPS13A VPS13A, 1-BP DEL, 6059C deletion 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:

# 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 regulation of axon diameter GO:0031133 8.96 KEL XK
7 cellular magnesium ion homeostasis GO:0010961 8.62 KEL XK

Sources for Choreoacanthocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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