CHAC
MCID: CHR105
MIFTS: 48

Choreoacanthocytosis (CHAC)

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

Aliases & Classifications for Choreoacanthocytosis

MalaCards integrated aliases for Choreoacanthocytosis:

Name: Choreoacanthocytosis 58 25 54 26 55 60 76 38 30 13 6 41
Neuroacanthocytosis 58 12 77 54 26 55 76 56 45 15
Chorea-Acanthocytosis 58 25 54 26 60 76 56
Chac 58 25 54 26 60 76
Levine-Critchley Syndrome 58 12 55 60 76
Acanthocytosis with Neurologic Disorder 58 54 76
Chorea Acanthocytosis 77 54
Choreaacanthocytosis 12 15
Chorea Acanthocytosis Syndrome 74
Neuroacanthocytosis Syndrome 54
Choreo-Acanthocytosis 12
Acanthocytosis Chorea 77

Characteristics:

Orphanet epidemiological data:

60
choreoacanthocytosis
Inheritance: Autosomal recessive; Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
choreoacanthocytosis:
Mortality/Aging death in early adulthood
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Choreoacanthocytosis

NINDS : 55 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 neurodegeneration with brain iron accumulation 1, 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). Affiliated tissues include tongue, brain and eye, and related phenotypes are ataxia and muscular hypotonia

Disease Ontology : 12 A neurodegenerative disease that is characterized by acanthocytosis, chorea, progressive cognitive impairment, muscle weakness and seizures, has material basis in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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 : 58 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 : 76 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 : 77 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 all 44)
# Related Disease Score Top Affiliating Genes
1 mcleod syndrome 33.6 VPS13A XK
2 neurodegeneration with brain iron accumulation 1 30.2 JPH3 VPS13A
3 choreatic disease 29.9 JPH3 KEL VPS13A
4 choreoacanthocytosis amyotrophic 12.1
5 curly hair-acral keratoderma-caries syndrome 11.5
6 mohr-tranebjaerg syndrome 11.1
7 huntington disease 10.5
8 dilated cardiomyopathy 10.4
9 myopathy 10.3
10 cellulitis 10.3
11 schizophrenia 10.2
12 male infertility 10.2
13 motor neuron disease 10.2
14 oromandibular dystonia 10.2
15 infertility 10.2
16 peripheral nervous system disease 10.2
17 muscular atrophy 10.2
18 neuropathy 10.2
19 dysautonomia 10.2
20 abetalipoproteinemia 10.1
21 obsessive-compulsive disorder 10.1
22 movement disease 10.1
23 huntington disease-like 2 10.0 JPH3 VPS13A
24 tardive dyskinesia 10.0
25 epilepsy, familial temporal lobe, 2 10.0
26 temporal lobe epilepsy 10.0
27 spasmodic dystonia 10.0
28 epilepsy 10.0
29 dystonia 10.0
30 spasmodic dysphonia 10.0
31 temporal epilepsy, familial 10.0
32 dysphagia 10.0
33 lingual-facial-buccal dyskinesia 10.0 KEL VPS13A
34 supranuclear palsy, progressive, 1 10.0
35 apraxia of eyelid opening 10.0
36 apraxia 10.0
37 neurodegeneration with brain iron accumulation 10.0
38 dementia 10.0
39 mood disorder 10.0
40 depression 10.0
41 encephalopathy 10.0
42 granulomatous disease, chronic, x-linked 9.9 KEL XK
43 leukodystrophy, hypomyelinating, 2 9.8 HCCS JPH3 VPS13A
44 chronic granulomatous disease 9.7 KEL XK

Graphical network of the top 20 diseases related to Choreoacanthocytosis:



Diseases related to Choreoacanthocytosis

Symptoms & Phenotypes for Choreoacanthocytosis

Human phenotypes related to Choreoacanthocytosis:

60 33 (show top 50) (show all 83)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 pallor 60 33 hallmark (90%) Very frequent (99-80%) HP:0000980
4 peripheral neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009830
5 acanthocytosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001927
6 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
7 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
8 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
9 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
10 chorea 60 33 frequent (33%) Frequent (79-30%) HP:0002072
11 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
12 myopathy 60 33 frequent (33%) Frequent (79-30%) HP:0003198
13 fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0012378
14 abnormality of vision 60 33 frequent (33%) Frequent (79-30%) HP:0000504
15 emg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0003457
16 abnormal bleeding 60 33 frequent (33%) Frequent (79-30%) HP:0001892
17 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
18 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
19 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
20 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
21 cerebral cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002120
22 memory impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002354
23 protruding tongue 60 33 frequent (33%) Frequent (79-30%) HP:0010808
24 areflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001284
25 dysgraphia 60 33 frequent (33%) Frequent (79-30%) HP:0010526
26 muscle fiber atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0100295
27 limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003690
28 abnormal urinary color 60 33 frequent (33%) Frequent (79-30%) HP:0012086
29 distal upper limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0008959
30 difficulty in tongue movements 60 33 frequent (33%) Frequent (79-30%) HP:0000183
31 orofacial dyskinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002310
32 progressive distal muscular atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008955
33 elevated serum creatine kinase 33 frequent (33%) HP:0003236
34 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
35 nausea and vomiting 60 33 occasional (7.5%) Occasional (29-5%) HP:0002017
36 sleep disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002360
37 self-injurious behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0100716
38 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
39 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
40 recurrent respiratory infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0002205
41 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
42 malabsorption 60 33 occasional (7.5%) Occasional (29-5%) HP:0002024
43 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
44 hypertrophic cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001639
45 ascites 60 33 occasional (7.5%) Occasional (29-5%) HP:0001541
46 abdominal pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0002027
47 weight loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0001824
48 feeding difficulties 60 33 occasional (7.5%) Occasional (29-5%) HP:0011968
49 abnormality of the foot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001760
50 acute hepatic failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0006554

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
dysarthria
dystonia
hyporeflexia
parkinsonism
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
psychosis
disinhibition
personality changes
mood changes
more
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

Head And Neck Face:
orofacial dyskinesia

Hematology:
acanthocytes

Abdomen Gastrointestinal:
dysphagia
drooling

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

UMLS symptoms related to Choreoacanthocytosis:


seizures, personality changes, recurrent muscle twitches (symptom)

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 30 VPS13A

Anatomical Context for Choreoacanthocytosis

MalaCards organs/tissues related to Choreoacanthocytosis:

42
Tongue, Brain, Eye, Skeletal Muscle, Skin, Heart, Thyroid

Publications for Choreoacanthocytosis

Articles related to Choreoacanthocytosis:

(show all 35)
# Title Authors Year
1
Neuroacanthocytosis with unusual clinical features: A case report. ( 30633203 )
2019
2
Molecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis Syndromes: A Review. ( 30128557 )
2018
3
Is Dexmedetomidine a Miracle Drug for Sedation in Patients With Neuroacanthocytosis With Involuntary Movements? ( 28914676 )
2018
4
Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome. ( 29253590 )
2018
5
Weight loss due to feeding dyskinesia: A presenting symptom of neuroacanthocytosis. ( 29503346 )
2018
6
Globus Pallidus Internal Deep-Brain Stimulation in a Patient with Neuroacanthocytosis with Drug-Induced Parkinsonism. ( 30153676 )
2018
7
Proceedings of the Ninth International Meeting on Neuroacanthocytosis Syndromes. ( 30370181 )
2018
8
Neuroacanthocytosis: A new mutation. ( 26307126 )
2017
9
Response to "Neuroacanthocytosis: A case with unusual clinical features and novel response to treatment" by Wu et al. ( 27955933 )
2017
10
Neuroacanthocytosis: A case with unusual clinical features & novel response to treatment. ( 27988032 )
2017
11
Is postoperative encephalopathy with choreoathetosis an acquired form of neuroacanthocytosis? ( 26968902 )
2016
12
Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up. ( 27310290 )
2016
13
Neuroacanthocytosis: A case with unusual clinical features & novel response to treatment. ( 27772787 )
2016
14
Abnormal red cell structure and function in neuroacanthocytosis. ( 25933379 )
2015
15
Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes. ( 26090076 )
2015
16
Successful Combination of Pallidal and Thalamic Stimulation for Intractable Involuntary Movements in Patients with Neuroacanthocytosis. ( 26165146 )
2015
17
Neuroacanthocytosis: Observations, Theories and Perspectives on the Origin and Significance of Acanthocytes. ( 26317043 )
2015
18
Management of Neuroacanthocytosis Syndromes. ( 26504667 )
2015
19
Sarcoidosis: a rare cause of Kleine-Levine-Critchley syndrome. ( 19070262 )
2008
20
Choreoacanthocytosis in a Mexican family. ( 17998451 )
2007
21
A case of choreoacanthocytosis with marked weight loss: impact of orolingual dyskinesia. ( 16936394 )
2006
22
Early clinical heterogeneity in choreoacanthocytosis. ( 15824261 )
2005
23
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. ( 16060937 )
2005
24
Reduction of striatal glucose metabolism in McLeod choreoacanthocytosis. ( 11254778 )
2001
25
Case study: childhood-onset tardive dyskinesia versus choreoacanthocytosis. ( 10939235 )
2000
26
Changes in the glycosaminoglycans, glycoproteins and lipid components of erythrocyte membrane in neuroacanthocytosis. ( 29509155 )
1997
27
Choreoacanthocytosis. ( 7852238 )
1994
28
Choreoacanthocytosis with marked dysphagia and laryngeal dystonia. ( 1816230 )
1991
29
Diagnostic tests for choreoacanthocytosis. ( 1829792 )
1991
30
Neuropsychological deficits in choreoacanthocytosis. ( 2712754 )
1989
31
Choreoacanthocytosis in a Chinese patient--a case report. ( 2617308 )
1989
32
Amyotrophic choreoacanthocytosis: is it really a very rare disease? ( 3804706 )
1986
33
Evoked potentials in choreoacanthocytosis. ( 2419092 )
1986
34
Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome) ( 4058764 )
1985
35
Choreoacanthocytosis. Clues to clinical diagnosis. ( 6453575 )
1981

Variations for Choreoacanthocytosis

UniProtKB/Swiss-Prot genetic disease variations for Choreoacanthocytosis:

76
# 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

ClinVar genetic disease variations for Choreoacanthocytosis:

6 (show top 50) (show all 260)
# 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 NM_033305.2(VPS13A): c.269T> A (p.Ile90Lys) single nucleotide variant Pathogenic rs119477052 GRCh38 Chromosome 9, 77205394: 77205394
3 VPS13A VPS13A, 1-BP INS, 6404T insertion Pathogenic
4 VPS13A VPS13A, 260-BP DEL deletion Pathogenic
5 VPS13A NM_033305.2(VPS13A): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119477053 GRCh37 Chromosome 9, 79828156: 79828156
6 VPS13A NM_033305.2(VPS13A): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119477053 GRCh38 Chromosome 9, 77213240: 77213240
7 VPS13A VPS13A, 8035G-A deletion Pathogenic
8 VPS13A VPS13A, 1-BP DEL, 6059C deletion Pathogenic
9 VPS13A VPS13A, 7-KB DEL deletion Pathogenic
10 VPS13A VPS13A, 37-KB DEL deletion Pathogenic
11 VPS13A VPS13A, 2-BP DUP, 3556AC duplication Pathogenic
12 VPS13A VPS13A, TRP435TER undetermined variant Pathogenic
13 VPS13A NM_033305.2(VPS13A): c.-181G> A single nucleotide variant Likely benign rs117488726 GRCh38 Chromosome 9, 77177524: 77177524
14 VPS13A NM_033305.2(VPS13A): c.-181G> A single nucleotide variant Likely benign rs117488726 GRCh37 Chromosome 9, 79792440: 79792440
15 VPS13A NM_033305.2(VPS13A): c.101-14T> G single nucleotide variant Uncertain significance rs202024224 GRCh38 Chromosome 9, 77199931: 77199931
16 VPS13A NM_033305.2(VPS13A): c.101-14T> G single nucleotide variant Uncertain significance rs202024224 GRCh37 Chromosome 9, 79814847: 79814847
17 VPS13A NM_033305.2(VPS13A): c.989+28delT deletion Uncertain significance rs751974264 GRCh38 Chromosome 9, 77220411: 77220411
18 VPS13A NM_033305.2(VPS13A): c.989+28delT deletion Uncertain significance rs751974264 GRCh37 Chromosome 9, 79835327: 79835327
19 VPS13A NM_033305.2(VPS13A): c.1303T> C (p.Trp435Arg) single nucleotide variant Uncertain significance rs550188251 GRCh38 Chromosome 9, 77226544: 77226544
20 VPS13A NM_033305.2(VPS13A): c.1303T> C (p.Trp435Arg) single nucleotide variant Uncertain significance rs550188251 GRCh37 Chromosome 9, 79841460: 79841460
21 VPS13A NM_033305.2(VPS13A): c.1758T> C (p.Ala586=) single nucleotide variant Conflicting interpretations of pathogenicity rs149037185 GRCh37 Chromosome 9, 79853080: 79853080
22 VPS13A NM_033305.2(VPS13A): c.1758T> C (p.Ala586=) single nucleotide variant Conflicting interpretations of pathogenicity rs149037185 GRCh38 Chromosome 9, 77238164: 77238164
23 VPS13A NM_033305.2(VPS13A): c.1792G> C (p.Val598Leu) single nucleotide variant Uncertain significance rs759600403 GRCh37 Chromosome 9, 79853194: 79853194
24 VPS13A NM_033305.2(VPS13A): c.1792G> C (p.Val598Leu) single nucleotide variant Uncertain significance rs759600403 GRCh38 Chromosome 9, 77238278: 77238278
25 VPS13A NM_033305.2(VPS13A): c.2124A> G (p.Ser708=) single nucleotide variant Uncertain significance rs199682779 GRCh37 Chromosome 9, 79865099: 79865099
26 VPS13A NM_033305.2(VPS13A): c.2124A> G (p.Ser708=) single nucleotide variant Uncertain significance rs199682779 GRCh38 Chromosome 9, 77250183: 77250183
27 VPS13A NM_033305.2(VPS13A): c.2201G> A (p.Ser734Asn) single nucleotide variant Uncertain significance rs117320408 GRCh37 Chromosome 9, 79867181: 79867181
28 VPS13A NM_033305.2(VPS13A): c.2201G> A (p.Ser734Asn) single nucleotide variant Uncertain significance rs117320408 GRCh38 Chromosome 9, 77252265: 77252265
29 VPS13A NM_033305.2(VPS13A): c.2440A> G (p.Thr814Ala) single nucleotide variant Uncertain significance rs564878665 GRCh37 Chromosome 9, 79888208: 79888208
30 VPS13A NM_033305.2(VPS13A): c.2440A> G (p.Thr814Ala) single nucleotide variant Uncertain significance rs564878665 GRCh38 Chromosome 9, 77273292: 77273292
31 VPS13A NM_033305.2(VPS13A): c.2718A> G (p.Val906=) single nucleotide variant Likely benign rs79287753 GRCh37 Chromosome 9, 79891031: 79891031
32 VPS13A NM_033305.2(VPS13A): c.2718A> G (p.Val906=) single nucleotide variant Likely benign rs79287753 GRCh38 Chromosome 9, 77276115: 77276115
33 VPS13A NM_033305.2(VPS13A): c.2964+13A> G single nucleotide variant Likely benign rs115996561 GRCh37 Chromosome 9, 79896855: 79896855
34 VPS13A NM_033305.2(VPS13A): c.2964+13A> G single nucleotide variant Likely benign rs115996561 GRCh38 Chromosome 9, 77281939: 77281939
35 VPS13A NM_033305.2(VPS13A): c.3282C> T (p.Asn1094=) single nucleotide variant Uncertain significance rs372019796 GRCh37 Chromosome 9, 79898509: 79898509
36 VPS13A NM_033305.2(VPS13A): c.3282C> T (p.Asn1094=) single nucleotide variant Uncertain significance rs372019796 GRCh38 Chromosome 9, 77283593: 77283593
37 VPS13A NM_033305.2(VPS13A): c.3645C> A (p.Ala1215=) single nucleotide variant Uncertain significance rs138687767 GRCh38 Chromosome 9, 77295679: 77295679
38 VPS13A NM_033305.2(VPS13A): c.3645C> A (p.Ala1215=) single nucleotide variant Uncertain significance rs138687767 GRCh37 Chromosome 9, 79910595: 79910595
39 VPS13A NM_033305.2(VPS13A): c.3706C> T (p.Leu1236=) single nucleotide variant Uncertain significance rs189138644 GRCh38 Chromosome 9, 77295740: 77295740
40 VPS13A NM_033305.2(VPS13A): c.3706C> T (p.Leu1236=) single nucleotide variant Uncertain significance rs189138644 GRCh37 Chromosome 9, 79910656: 79910656
41 VPS13A NM_033305.2(VPS13A): c.3961-6delT deletion Likely benign rs3216012 GRCh38 Chromosome 9, 77307939: 77307939
42 VPS13A NM_033305.2(VPS13A): c.3961-6delT deletion Likely benign rs3216012 GRCh37 Chromosome 9, 79922855: 79922855
43 VPS13A NM_033305.2(VPS13A): c.4041C> T (p.Ala1347=) single nucleotide variant Likely benign rs74983687 GRCh38 Chromosome 9, 77308025: 77308025
44 VPS13A NM_033305.2(VPS13A): c.4041C> T (p.Ala1347=) single nucleotide variant Likely benign rs74983687 GRCh37 Chromosome 9, 79922941: 79922941
45 VPS13A NM_033305.2(VPS13A): c.4390C> A (p.His1464Asn) single nucleotide variant Uncertain significance rs148891181 GRCh38 Chromosome 9, 77314642: 77314642
46 VPS13A NM_033305.2(VPS13A): c.4390C> A (p.His1464Asn) single nucleotide variant Uncertain significance rs148891181 GRCh37 Chromosome 9, 79929558: 79929558
47 VPS13A NM_033305.2(VPS13A): c.4469G> A (p.Arg1490Lys) single nucleotide variant Likely benign rs76077278 GRCh38 Chromosome 9, 77315309: 77315309
48 VPS13A NM_033305.2(VPS13A): c.4469G> A (p.Arg1490Lys) single nucleotide variant Likely benign rs76077278 GRCh37 Chromosome 9, 79930225: 79930225
49 VPS13A NM_033305.2(VPS13A): c.9027A> G (p.Pro3009=) single nucleotide variant Uncertain significance rs17081163 GRCh38 Chromosome 9, 77371099: 77371099
50 VPS13A NM_033305.2(VPS13A): c.4979C> G (p.Thr1660Ser) single nucleotide variant Uncertain significance rs139073067 GRCh38 Chromosome 9, 77318257: 77318257

Expression for Choreoacanthocytosis

Search GEO for disease gene expression data for Choreoacanthocytosis.

Pathways for Choreoacanthocytosis

GO Terms for Choreoacanthocytosis

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

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 8.96 KEL VPS13D
2 extrinsic component of membrane GO:0019898 8.8 VPS13A VPS13C VPS13D

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 9.46 KEL XK
2 myelination GO:0042552 9.43 KEL XK
3 skeletal muscle fiber development GO:0048741 9.4 KEL XK
4 regulation of cell size GO:0008361 9.37 KEL XK
5 Golgi to endosome transport GO:0006895 9.32 VPS13A VPS13C
6 cellular magnesium ion homeostasis GO:0010961 9.26 KEL XK
7 regulation of axon diameter GO:0031133 9.16 KEL XK
8 protein targeting to vacuole GO:0006623 9.13 VPS13A VPS13C VPS13D
9 protein retention in Golgi apparatus GO:0045053 8.8 VPS13A VPS13C VPS13D

Sources for Choreoacanthocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....