CHAC
MCID: CHR105
MIFTS: 55

Choreoacanthocytosis (CHAC)

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

Aliases & Classifications for Choreoacanthocytosis

MalaCards integrated aliases for Choreoacanthocytosis:

Name: Choreoacanthocytosis 57 25 20 43 53 58 72 36 29 13 6 39
Neuroacanthocytosis 57 12 73 20 43 53 58 72 54 44 15
Chorea-Acanthocytosis 57 25 20 43 58 72 54
Chac 57 25 20 43 58 72
Levine-Critchley Syndrome 57 12 53 58 72
Acanthocytosis with Neurologic Disorder 57 20 72
Chorea Acanthocytosis 73 20
Choreaacanthocytosis 12 15
Chorea Acanthocytosis Syndrome 70
Neuroacanthocytosis Syndrome 20
Choreo-Acanthocytosis 12
Acanthocytosis Chorea 73

Characteristics:

Orphanet epidemiological data:

58
choreoacanthocytosis
Inheritance: Autosomal recessive; Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
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:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases


Summaries for Choreoacanthocytosis

MedlinePlus Genetics : 43 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.In addition to chorea, another common feature of chorea-acanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. These muscle twitches can cause vocal tics (such as grunting), involuntary belching, and limb spasms. Eating can also be impaired as tongue and throat twitches can interfere with chewing and swallowing food. People with chorea-acanthocytosis may uncontrollably bite their tongue, lips, and inside of the mouth. Nearly half of all people with chorea-acanthocytosis have seizures.Individuals with chorea-acanthocytosis may develop difficulty processing, learning, and remembering information (cognitive impairment). They may have reduced sensation and weakness in their arms and legs (peripheral neuropathy) and muscle weakness (myopathy). Impaired muscle and nerve functioning commonly cause speech difficulties in individuals with this condition, and can lead to an inability to speak.Behavioral changes are a common feature of chorea-acanthocytosis and may be the first sign of this condition. These behavioral changes may include changes in personality, obsessive-compulsive disorder (OCD), lack of self-restraint, and the inability to take care of oneself.The signs and symptoms of chorea-acanthocytosis usually begin in early to mid-adulthood. The movement problems of this condition worsen with age. Loss of cells (atrophy) in certain brain regions is the major cause of the neurological problems seen in people with chorea-acanthocytosis.

MalaCards based summary : Choreoacanthocytosis, also known as neuroacanthocytosis, is related to mcleod syndrome and huntington disease-like 2, and has symptoms including seizures, personality changes and recurrent muscle twitches (symptom). An important gene associated with Choreoacanthocytosis is VPS13A (Vacuolar Protein Sorting 13 Homolog A), and among its related pathways/superpathways is Pantothenate and CoA biosynthesis. Affiliated tissues include tongue, brain and eye, and related phenotypes are chorea and myopathy

Disease Ontology : 12 A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.

GARD : 20 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.

OMIM® : 57 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) (Updated 20-May-2021)

NINDS : 53 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.

KEGG : 36 Choreoacanthocytosis (CHAC) is a type of neuroacanthocytosis, a heterogeneous group of hereditary syndromes characterized by the association of neurologic abnormalities with acanthocytic red blood cells. This disease caused by a variety of mutations in the VPS13A gene. The inheritance is mainly autosomal recessive, although apparent sporadic and autosomal dominant instances are also known. VPS13A gene encodes the chorein protein, which is thought to have a role in the change of cellular structures. CHAC is characterized by involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy. Oral-lingual dystonia is a noticeable feature, often resulting in mouth or tongue lacerations. Symptoms typically begin between 20 and 40 years of age, but earlier and later onset occurs as well.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Chorea-acanthocytosis (ChAc, also called Choreoacanthocytosis), is a rare hereditary disease caused by a... more...

GeneReviews: NBK1387

Related Diseases for Choreoacanthocytosis

Diseases related to Choreoacanthocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 mcleod syndrome 30.2 XK VPS13A
2 huntington disease-like 2 30.2 VPS13A TBP JPH3
3 huntington disease 30.2 XK VPS13A TBP JPH3
4 lingual-facial-buccal dyskinesia 30.0 XK VPS13A PANK2 KEL JPH3
5 oromandibular dystonia 29.7 VPS13A PANK2 CP C19orf12
6 neurodegeneration with brain iron accumulation 1 29.1 VPS13A PANK2 PANK1 JPH3 FTL CP
7 neuroaxonal dystrophy 28.8 PANK2 PANK1 FTL C19orf12
8 neurodegeneration with brain iron accumulation 28.5 VPS13A PANK2 PANK1 JPH3 FTL CP
9 movement disease 28.5 VPS13A TBP PANK2 PANK1 FTL CP
10 aceruloplasminemia 28.5 VPS13A PANK2 PANK1 FTL CP C19orf12
11 dystonia 28.4 VPS13A TBP PANK2 JPH3 FTL CP
12 choreatic disease 28.3 XK VPS13D VPS13C VPS13A TBP PANK2
13 choreoacanthocytosis amyotrophic 11.0
14 mohr-tranebjaerg syndrome 10.9
15 epilepsy 10.4
16 abetalipoproteinemia 10.3
17 parkinsonism 10.3
18 fetal erythroblastosis 10.3 XK KEL
19 hypotonia 10.2
20 granulomatous disease, chronic, x-linked 10.2 XK KEL
21 sarcoidosis 1 10.2
22 neurosarcoidosis 10.2
23 inflammatory bowel disease 10 10.2 SNORA54 SCARNA6
24 atrial standstill 1 10.2
25 pure autonomic failure 10.2
26 axonal neuropathy 10.1
27 leukodystrophy, hypomyelinating, 2 10.1 VPS13A JPH3
28 spinocerebellar ataxia, autosomal recessive 4 10.1 VPS13D VPS13C VPS13B VPS13A
29 huntington disease-like 1 10.1 VPS13A TBP JPH3
30 spinocerebellar ataxia 17 10.1 VPS13A TBP JPH3
31 obsessive-compulsive disorder 10.1
32 retinitis pigmentosa 10.1
33 neuroretinitis 10.1
34 retinitis 10.1
35 chorea, childhood-onset, with psychomotor retardation 10.1
36 polyneuropathy 10.1
37 cellulitis 10.1
38 phagocyte bactericidal dysfunction 10.1 XK KEL
39 ataxia and polyneuropathy, adult-onset 10.0
40 hypobetalipoproteinemia, familial, 1 10.0
41 cerebellar disease 10.0 TBP JPH3 CP
42 behr syndrome 10.0 VPS13D C19orf12
43 attention deficit-hyperactivity disorder 10.0
44 paranoid schizophrenia 10.0
45 male infertility 10.0
46 hypothalamic disease 10.0
47 motor neuron disease 10.0
48 progressive muscular atrophy 10.0
49 infertility 10.0
50 hypoglycemia 10.0

Graphical network of the top 20 diseases related to Choreoacanthocytosis:



Diseases related to Choreoacanthocytosis

Symptoms & Phenotypes for Choreoacanthocytosis

Human phenotypes related to Choreoacanthocytosis:

58 31 (show top 50) (show all 106)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chorea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002072
2 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198
3 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
4 acanthocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001927
5 impaired vibratory sensation 58 31 frequent (33%) Frequent (79-30%) HP:0002495
6 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
7 limb dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002451
8 distal amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003693
9 muscle fiber atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0100295
10 peripheral axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003477
11 parkinsonism 58 31 frequent (33%) Frequent (79-30%) HP:0001300
12 caudate atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002340
13 falls 58 31 frequent (33%) Frequent (79-30%) HP:0002527
14 absent achilles reflex 58 31 frequent (33%) Frequent (79-30%) HP:0003438
15 emg: neuropathic changes 58 31 frequent (33%) Frequent (79-30%) HP:0003445
16 poor motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0002275
17 decreased amplitude of sensory action potentials 58 31 frequent (33%) Frequent (79-30%) HP:0007078
18 laryngeal dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0012049
19 dilation of lateral ventricles 58 31 frequent (33%) Frequent (79-30%) HP:0006956
20 motor tics 58 31 frequent (33%) Frequent (79-30%) HP:0100034
21 square-wave jerks 58 31 frequent (33%) Frequent (79-30%) HP:0025402
22 phonic tics 58 31 frequent (33%) Frequent (79-30%) HP:0100035
23 abnormal erythrocyte enzyme level 31 frequent (33%) HP:0030272
24 emotional lability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000712
25 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
26 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
27 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
28 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
29 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
30 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
31 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
32 slurred speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001350
33 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
34 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
35 protruding tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0010808
36 obsessive-compulsive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000722
37 mental deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001268
38 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
39 blepharospasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0000643
40 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
41 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
42 progressive inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002505
43 apathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000741
44 frontal cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006913
45 short attention span 58 31 occasional (7.5%) Occasional (29-5%) HP:0000736
46 functional motor deficit 58 31 occasional (7.5%) Occasional (29-5%) HP:0004302
47 bruxism 58 31 occasional (7.5%) Occasional (29-5%) HP:0003763
48 hair-pulling 58 31 occasional (7.5%) Occasional (29-5%) HP:0012167
49 paranoia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011999
50 bradykinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002067

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
dysarthria
dystonia
hyporeflexia
parkinsonism
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
psychosis
disinhibition
personality changes
mood changes
more
Skeletal Feet:
pes cavus

Head And Neck Face:
orofacial dyskinesia

Hematology:
acanthocytes

Abdomen Gastrointestinal:
dysphagia
drooling

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

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 (Updated 20-May-2021)

UMLS symptoms related to Choreoacanthocytosis:


seizures; personality changes; recurrent muscle twitches (symptom)

MGI Mouse Phenotypes related to Choreoacanthocytosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 ADD2 CP FTL JPH3 KEL LYN
2 hematopoietic system MP:0005397 9.7 ADD2 CP FTL KEL LYN PANK1
3 nervous system MP:0003631 9.4 ADD2 CP FTL JPH3 KEL LYN

Drugs & Therapeutics for Choreoacanthocytosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Characterization of Cardiac and Skeletal Myopathy, Risk Evaluation, and Phenotype-Genotype Correlation in Patients With 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 29 VPS13A

Anatomical Context for Choreoacanthocytosis

MalaCards organs/tissues related to Choreoacanthocytosis:

40
Tongue, Brain, Eye, Temporal Lobe, Skeletal Muscle, Globus Pallidus, Endothelial

Publications for Choreoacanthocytosis

Articles related to Choreoacanthocytosis:

(show top 50) (show all 324)
# Title Authors PMID Year
1
Early clinical heterogeneity in choreoacanthocytosis. 61 6 25 57
15824261 2005
2
Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis. 54 57 25 6
14663054 2003
3
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. 57 6 25 54
12404112 2002
4
The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. 25 57 6 54
11381254 2001
5
Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. 57 25 6
15918062 2005
6
A conserved sorting-associated protein is mutant in chorea-acanthocytosis. 25 57 6
11381253 2001
7
Eye movements in chorea-acanthocytosis. 57 25 61
15914612 2005
8
Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis. 25 6
21598378 2011
9
Huntington's disease--like 2 can present as chorea-acanthocytosis. 57 25
14557581 2003
10
Late appearance of acanthocytes during the course of chorea-acanthocytosis. 25 57
10371080 1999
11
Hereditary neurological disease with acanthocytosis. A new syndrome. 57 25
5677189 1968
12
An adult form of acanthocytosis. 57 25
4255726 1967
13
Choreoacanthocytosis in a Mexican family. 61 57
17998451 2007
14
McLeod neuroacanthocytosis: genotype and phenotype. 25 61 54
11761473 2001
15
Chorea-acanthocytosis: genetic linkage to chromosome 9q21. 61 57
9382101 1997
16
The pattern of cognitive impairments in neuroacanthocytosis. A frontosubcortical dementia. 61 57
8599563 1996
17
Nigral degeneration in neuroacanthocytosis. 57 61
7936287 1994
18
Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. 61 57
1998879 1991
19
Band 3 in aging and neurological disease. 57 61
1859086 1991
20
Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome) 57 61
4058764 1985
21
Familial amyotrophic chorea with acanthocytosis. New clinical and laboratory investigations. 61 57
4026606 1985
22
Movement disorders of familial neuroacanthocytosis syndrome. 61 57
7073550 1982
23
Recessive mutations in VPS13D cause childhood onset movement disorders. 61 25
29518281 2018
24
Short and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis. 61 25
24223913 2013
25
Alterations of red cell membrane properties in neuroacanthocytosis. 61 25
24098554 2013
26
Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing. 61 25
22038564 2012
27
Computational identification of phospho-tyrosine sub-networks related to acanthocyte generation in neuroacanthocytosis. 25 61
22355334 2012
28
Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred. 25 61
21987550 2011
29
The neuropsychiatry of neuroacanthocytosis syndromes. 25 61
21237198 2011
30
Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia. 61 25
21145924 2011
31
[Chorea-acanthocytosis without acanthocytes]. 61 25
19497603 2010
32
Treatment-resistant self-mutilation, tics, and obsessive-compulsive disorder in neuroacanthocytosis: a mouth guard as a therapeutic approach. 25 61
18687019 2008
33
Chorein deficiency leads to upregulation of gephyrin and GABA(A) receptor. 54 25
17070500 2006
34
Severe tongue protrusion dystonia: clinical syndromes and possible treatment. 25 61
17000958 2006
35
Effect of levetiracetam on truncal tic in neuroacanthocytosis. 61 25
16599284 2006
36
Focal seizures originating from the left temporal lobe in a case with chorea-acanthocytosis. 61 25
16475485 2006
37
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. 61 25
16060937 2005
38
Neuroacanthocytosis: new developments in a neglected group of dementing disorders. 61 25
15760637 2005
39
Testing for acanthocytosis A prospective reader-blinded study in movement disorder patients. 61 25
15654559 2005
40
Analysis of the human VPS13 gene family. 54 25
15498460 2004
41
Chorein detection for the diagnosis of chorea-acanthocytosis. 25 54
15293285 2004
42
Distressing belching and neuroacanthocytosis. 61 25
15254955 2004
43
Neuroacanthocytosis: clinical, radiological, and neurophysiological findings in an Italian family. 61 25
14598080 2003
44
Clinical features and molecular bases of neuroacanthocytosis. 25 61
12185448 2002
45
Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions. 57
11940688 2002
46
Neuroacanthocytosis presenting as parkinsonism. 25 61
11104222 2000
47
Case study: childhood-onset tardive dyskinesia versus choreoacanthocytosis. 61 25
10939235 2000
48
[Autosomal recessive chorea-acanthocytosis linked to 9q21]. 57
10846875 2000
49
Neuroacanthocytosis--the variability of presenting symptoms in two siblings. 25 61
10536920 1999
50
Neuroacanthocytosis masquerading as Huntington's disease: CT/MRI findings. 25 61
10436764 1999

Variations for Choreoacanthocytosis

ClinVar genetic disease variations for Choreoacanthocytosis:

6 (show top 50) (show all 317)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VPS13A NM_033305.3(VPS13A):c.269T>A (p.Ile90Lys) SNV Pathogenic 4682 rs119477052 GRCh37: 9:79820310-79820310
GRCh38: 9:77205394-77205394
2 VPS13A NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) Duplication Pathogenic 4683 rs951347128 GRCh37: 9:79954456-79954457
GRCh38: 9:77339540-77339541
3 VPS13A VPS13A, 260-BP DEL Deletion Pathogenic 4684 GRCh37:
GRCh38:
4 VPS13A NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter) SNV Pathogenic 4685 rs119477053 GRCh37: 9:79828156-79828156
GRCh38: 9:77213240-77213240
5 VPS13A NM_033305.3(VPS13A):c.8035G>A (p.Ala2679Thr) SNV Pathogenic 4686 rs1587653832 GRCh37: 9:79973354-79973354
GRCh38: 9:77358438-77358438
6 VPS13A VPS13A, 1-BP DEL, 6059C Deletion Pathogenic 4687 GRCh37:
GRCh38:
7 VPS13A VPS13A, 7-KB DEL Deletion Pathogenic 4688 GRCh37:
GRCh38:
8 VPS13A VPS13A, 37-KB DEL Deletion Pathogenic 4689 GRCh37:
GRCh38:
9 VPS13A VPS13A, 2-BP DUP, 3556AC Duplication Pathogenic 4690 GRCh37:
GRCh38:
10 VPS13A NM_033305.3(VPS13A):c.1305G>A (p.Trp435Ter) SNV Pathogenic 37235 rs761923202 GRCh37: 9:79841462-79841462
GRCh38: 9:77226546-77226546
11 VPS13A NM_033305.3(VPS13A):c.6283del (p.Ser2095fs) Deletion Pathogenic 667398 rs1587612257 GRCh37: 9:79952357-79952357
GRCh38: 9:77337441-77337441
12 VPS13A NM_033305.3(VPS13A):c.337C>T (p.Gln113Ter) SNV Pathogenic 812513 rs780664594 GRCh37: 9:79820947-79820947
GRCh38: 9:77206031-77206031
13 VPS13A NM_033305.3(VPS13A):c.555+1G>A SNV Pathogenic 818223 rs1590003601 GRCh37: 9:79825592-79825592
GRCh38: 9:77210676-77210676
14 VPS13A NM_033305.3(VPS13A):c.4918C>T (p.Gln1640Ter) SNV Pathogenic 830219 GRCh37: 9:79932576-79932576
GRCh38: 9:77317660-77317660
15 VPS13A NM_033305.3(VPS13A):c.3499_3503del (p.Ser1167fs) Deletion Pathogenic 915301 GRCh37: 9:79908413-79908417
GRCh38: 9:77293497-77293501
16 VPS13A NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs) Duplication Pathogenic 654006 rs779746050 GRCh37: 9:79910505-79910506
GRCh38: 9:77295589-77295590
17 VPS13A NM_033305.3(VPS13A):c.8521C>T (p.Gln2841Ter) SNV Pathogenic 998269 GRCh37: 9:79983020-79983020
GRCh38: 9:77368104-77368104
18 VPS13A NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter) SNV Pathogenic 834822 GRCh37: 9:79996923-79996923
GRCh38: 9:77382007-77382007
19 VPS13A NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter) SNV Pathogenic 1028512 GRCh37: 9:79875039-79875039
GRCh38: 9:77260123-77260123
20 VPS13A NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter) SNV Likely pathogenic 1028515 GRCh37: 9:79955137-79955137
GRCh38: 9:77340221-77340221
21 VPS13A NM_033305.3(VPS13A):c.2252_2253insGA (p.Lys752fs) Insertion Likely pathogenic 930135 GRCh37: 9:79867232-79867233
GRCh38: 9:77252316-77252317
22 VPS13A NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) SNV Conflicting interpretations of pathogenicity 448864 rs149840356 GRCh37: 9:79931219-79931219
GRCh38: 9:77316303-77316303
23 VPS13A NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) SNV Conflicting interpretations of pathogenicity 367346 rs41307461 GRCh37: 9:79834890-79834890
GRCh38: 9:77219974-77219974
24 VPS13A NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) SNV Conflicting interpretations of pathogenicity 367395 rs149694033 GRCh37: 9:79938036-79938036
GRCh38: 9:77323120-77323120
25 VPS13A NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) SNV Uncertain significance 367413 rs141138349 GRCh37: 9:79968362-79968362
GRCh38: 9:77353446-77353446
26 VPS13A NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) SNV Uncertain significance 367364 rs117320408 GRCh37: 9:79867181-79867181
GRCh38: 9:77252265-77252265
27 VPS13A NM_033305.3(VPS13A):c.787G>A (p.Val263Met) SNV Uncertain significance 448871 rs372957084 GRCh37: 9:79834902-79834902
GRCh38: 9:77219986-77219986
28 VPS13A NM_033305.3(VPS13A):c.971A>G (p.His324Arg) SNV Uncertain significance 696476 rs138568018 GRCh37: 9:79835281-79835281
GRCh38: 9:77220365-77220365
29 VPS13A NM_033305.3(VPS13A):c.3282C>T (p.Asn1094=) SNV Uncertain significance 367374 rs372019796 GRCh37: 9:79898509-79898509
GRCh38: 9:77283593-77283593
30 VPS13A NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=) SNV Uncertain significance 367377 rs189138644 GRCh37: 9:79910656-79910656
GRCh38: 9:77295740-77295740
31 VPS13A NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) SNV Uncertain significance 367406 rs143259810 GRCh37: 9:79959086-79959086
GRCh38: 9:77344170-77344170
32 VPS13A NM_033305.3(VPS13A):c.3637A>G (p.Ile1213Val) SNV Uncertain significance 805745 rs1172751806 GRCh37: 9:79910587-79910587
GRCh38: 9:77295671-77295671
33 VPS13A NM_033305.3(VPS13A):c.1197T>C (p.Thr399=) SNV Uncertain significance 700244 rs760025315 GRCh37: 9:79840877-79840877
GRCh38: 9:77225961-77225961
34 VPS13A NM_033305.3(VPS13A):c.1824A>G (p.Pro608=) SNV Uncertain significance 697577 rs750307161 GRCh37: 9:79853226-79853226
GRCh38: 9:77238310-77238310
35 VPS13A NM_033305.3(VPS13A):c.1660C>T (p.Leu554Phe) SNV Uncertain significance 448857 rs147115148 GRCh37: 9:79852982-79852982
GRCh38: 9:77238066-77238066
36 VPS13A NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=) SNV Uncertain significance 695930 rs200387635 GRCh37: 9:79972721-79972721
GRCh38: 9:77357805-77357805
37 VPS13A NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) SNV Uncertain significance 367390 rs139817600 GRCh37: 9:79936557-79936557
GRCh38: 9:77321641-77321641
38 VPS13A NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) SNV Uncertain significance 696029 rs147954757 GRCh37: 9:79843113-79843113
GRCh38: 9:77228197-77228197
39 VPS13A NM_033305.3(VPS13A):c.2922C>T (p.Pro974=) SNV Uncertain significance 695756 rs373768055 GRCh37: 9:79896800-79896800
GRCh38: 9:77281884-77281884
40 VPS13A NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=) SNV Uncertain significance 700200 rs752134753 GRCh37: 9:79930358-79930358
GRCh38: 9:77315442-77315442
41 VPS13A NM_033305.3(VPS13A):c.7129T>C (p.Cys2377Arg) SNV Uncertain significance 989591 GRCh37: 9:79959171-79959171
GRCh38: 9:77344255-77344255
42 VPS13A NM_033305.3(VPS13A):c.6200G>A (p.Cys2067Tyr) SNV Uncertain significance 989590 GRCh37: 9:79952275-79952275
GRCh38: 9:77337359-77337359
43 VPS13A NM_033305.3(VPS13A):c.5898A>G (p.Val1966=) SNV Uncertain significance 989589 GRCh37: 9:79938050-79938050
GRCh38: 9:77323134-77323134
44 VPS13A NM_033305.3(VPS13A):c.5753A>G (p.Asp1918Gly) SNV Uncertain significance 989588 GRCh37: 9:79936585-79936585
GRCh38: 9:77321669-77321669
45 VPS13A NM_033305.3(VPS13A):c.5248C>T (p.Arg1750Cys) SNV Uncertain significance 989587 GRCh37: 9:79933442-79933442
GRCh38: 9:77318526-77318526
46 VPS13A NM_033305.3(VPS13A):c.5003T>G (p.Leu1668Arg) SNV Uncertain significance 989586 GRCh37: 9:79933197-79933197
GRCh38: 9:77318281-77318281
47 VPS13A NM_033305.3(VPS13A):c.4765G>A (p.Gly1589Ser) SNV Uncertain significance 989585 GRCh37: 9:79931224-79931224
GRCh38: 9:77316308-77316308
48 VPS13A NM_033305.3(VPS13A):c.4470G>A (p.Arg1490=) SNV Uncertain significance 989584 GRCh37: 9:79930226-79930226
GRCh38: 9:77315310-77315310
49 VPS13A NM_033305.3(VPS13A):c.4185C>T (p.Asn1395=) SNV Uncertain significance 989583 GRCh37: 9:79928978-79928978
GRCh38: 9:77314062-77314062
50 VPS13A NM_033305.3(VPS13A):c.3658A>C (p.Ile1220Leu) SNV Uncertain significance 989582 GRCh37: 9:79910608-79910608
GRCh38: 9:77295692-77295692

UniProtKB/Swiss-Prot genetic disease variations for Choreoacanthocytosis:

72
# 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 rs140012747

Expression for Choreoacanthocytosis

Search GEO for disease gene expression data for Choreoacanthocytosis.

Pathways for Choreoacanthocytosis

Pathways related to Choreoacanthocytosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.95 PANK2 PANK1

GO Terms for Choreoacanthocytosis

Cellular components related to Choreoacanthocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extrinsic component of membrane GO:0019898 8.8 VPS13D VPS13C VPS13A

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

# Name GO ID Score Top Affiliating Genes
1 iron ion transport GO:0006826 9.32 FTL CP
2 Golgi to endosome transport GO:0006895 9.26 VPS13C VPS13A
3 coenzyme A biosynthetic process GO:0015937 9.16 PANK2 PANK1
4 protein targeting to vacuole GO:0006623 9.13 VPS13D VPS13C VPS13A
5 protein retention in Golgi apparatus GO:0045053 8.8 VPS13D VPS13C VPS13A

Molecular functions related to Choreoacanthocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pantothenate kinase activity GO:0004594 8.62 PANK2 PANK1

Sources for Choreoacanthocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....