MCID: ACN014
MIFTS: 48

Acanthocytosis malady

Rare diseases category

Summaries for Acanthocytosis

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44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Acanthocytosis is a condition characterized by the presence of abnormally-shaped red blood cellsĀ called acanthocytes. signs and symptoms more commonly reported include a history of chronic diarrhea with pale, foul-smelling, and bulky stools; loss of appetite and vomiting; and slow weight gain and decreased growth. some individuals hvae may have ataxia, tremors, and visual abnormalities; or jaundice, abdominal pain, pallor, dark urine, and recurrent infections. although acanthocytosis has been associated with a number of both inherited and acquired conditions, it most commonly occurs with abetalipoproteinemia and hemolytic anemia of severe liver disease. treatment for acanthocytosis depends on the underlying condition the affected individual has. last updated: 10/23/2013

MalaCards: Acanthocytosis, also known as abetalipoproteinemia, is related to chorea-acanthocytosis and neuroacanthocytosis. An important gene associated with Acanthocytosis is VPS13A (vacuolar protein sorting 13 homolog A (S. cerevisiae)), and among its related pathways are Growth hormone receptor signaling and Transcription Transcription factor Tubby signaling pathways. The compounds naoh and oxalate have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and temporal lobe, and related mouse phenotypes are muscle and renal/urinary system.

Wikipedia:66 Acanthocyte (from the Greek word acantha, meaning \'thorn\'), in human biology and medicine, refers to a... more...

Aliases & Classifications for Acanthocytosis

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63UMLS, 44NIH Rare Diseases
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

acanthocytosis 44
abetalipoproteinemia 63


Related Diseases for Acanthocytosis

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18GeneCards, 19GeneDecks
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Diseases related to Acanthocytosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 87)
idRelated DiseaseScoreTop Affiliating Genes
1chorea-acanthocytosis31.4XK, VPS13C, VPS13D, VPS13A, GNA14, JPH3
2neuroacanthocytosis30.8PANK2, XK
3abetalipoproteinemia30.4APOB, LPL
4huntington's disease30.2JPH3, VPS13A, TGM2
5pantothenate kinase-associated neurodegeneration30.0JPH3, PANK2
6hereditary spherocytosis29.9SLC4A1, RHD, ADD2
7chorea10.9
8mcleod syndrome10.3
9levine-critchley syndrome10.3
10neurologic diseases10.3
11neuronitis10.2
12retinitis pigmentosa10.2
13myopathy10.2
14retinitis10.2
15temporal lobe epilepsy10.2
16dilated cardiomyopathy10.2
17hemolytic anemia10.2
18harp syndrome10.2
19hereditary elliptocytosis10.1SLC4A1
20kernicterus10.1RHD
21congenital dyserythropoietic anemia10.1SLC4A1, RHD
22chylomicron retention disease10.1APOB
23neuroaxonal dystrophy10.1PANK2
24hyperalphalipoproteinemia10.1APOB
25dentatorubral-pallidoluysian atrophy10.1JPH3
26movement disease10.1PANK2, TOR1A
27anorexia nervosa10.1
28cerebritis10.1
29hepatitis10.1
30hypolipoproteinemia10.1
31motor neuron disease10.1
32mcleod syndrome with or without chronic granulomatous disease10.1
33vascular dementia10.1RPS27A, TGM2
34ovarian disease10.1INSR, PRL
35acute erythroid leukemia10.1SLC4A1, TGM2, GNAQ
36norum disease10.0LPL, APOB
37familial hypertriglyceridemia10.0APOB, LPL
38xanthomatosis10.0APOB, LPL
39hyperlipidemia type 310.0APOB, LPL
40familial hyperlipidemia10.0LPL, APOB
41parkinson's disease10.0INSR, TGM2, TOR1A, RPS27A
42hypoalphalipoproteinemia10.0APOB, LPL
43tangier disease10.0APOB, LPL
44uremia10.0INSR, LPL, RHD
45liver cirrhosis10.0RHD, RPS27A, INSR
46hypertension10.0LPL, APOB, INSR
47lipodystrophy10.0LPL, APOB, INSR
48glucose intolerance10.0INSR, APOB, LPL
49hypertriglyceridemia10.0INSR, APOB, LPL
50fatty liver disease10.0LPL, APOB, INSR

Graphical network of the top 20 diseases related to Acanthocytosis:



Diseases related to acanthocytosis

Symptoms for Acanthocytosis

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Drugs & Therapeutics for Acanthocytosis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Acanthocytosis

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Anatomical Context for Acanthocytosis

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34MalaCards
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MalaCards organs/tissues related to Acanthocytosis:

34
Liver, Brain, Temporal lobe, Testes, Globus pallidus, Thalamus, Caudate nucleus, Pituitary, Eye, Tongue, Skeletal muscle

Animal Models for Acanthocytosis or affiliated genes

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38MGI
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Publications for Acanthocytosis

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53PubMed
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Articles related to Acanthocytosis:

(show top 50)    (show all 184)
idTitleAuthorsYear
1
Neuropathological findings in chorea-acanthocytosis: new insights into mechanisms underlying parkinsonism and seizures. (24394886)
2014
2
Idiopathic thrombocytopenic purpura and hypokalaemic dRTA with compensated haemolysis and striking acanthocytosis in a band 3 (SLC4A1/AE1) A858D homozygote. (23053187)
2013
3
Chorein, the protein responsible for chorea-acanthocytosis, interacts with I^-adducin and I^-actin. (24129186)
2013
4
Disease distribution in canine patients with acanthocytosis: 123 cases. (24320780)
2013
5
Short and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis. (24223913)
2013
6
Deep brain stimulation of the globus pallidus internal improves symptoms of chorea-acanthocytosis. (21863267)
2012
7
Chorein-sensitive polymerization of cortical actin and suicidal cell death in chorea-acanthocytosis. (22227296)
2012
8
Demonstration of striatopallidal iron deposition in chorea-acanthocytosis by susceptibility-weighted imaging. (20798951)
2011
9
Tongue protrusion and feeding dystonia: a hallmark of chorea-acanthocytosis. (19938148)
2010
10
Development of mesial temporal lobe epilepsy in chorea-acanthocytosis. (20498445)
2010
11
Re: Chorea-acanthocytosis: report of two Brazilian cases. (19373931)
2009
12
Development of mesial temporal lobe epilepsy in chorea-acanthocytosis. (19858465)
2009
13
Chorea-acanthocytosis: report of two Brazilian cases. (18785241)
2008
14
Primary skeletal muscle involvement in chorea-acanthocytosis. (17345646)
2007
15
Self-mutilation in chorea-acanthocytosis: Manifestation of movement disorder or psychopathology? (17044067)
2006
16
Nemaline rods in chorea-acanthocytosis. (15660376)
2005
17
Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. (15918062)
2005
18
Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis. (14663054)
2003
19
Abnormal accumulation of tTGase products in muscle and erythrocytes of chorea-acanthocytosis patients. (12387450)
2002
20
Progress in molecular chorea diagnosis. McLeod syndrome and chorea acanthocytosis]. (12243006)
2002
21
A conserved sorting-associated protein is mutant in chorea- acanthocytosis. (11381253)
2001
22
A case of chorea-acanthocytosis with dilated cardiomyopathy and myopathy]. (11218703)
2000
23
Genomic organization of the human G-alpha-14 and G-alpha-Q genes and mutation analysis in chorea-acanthocytosis (CHAC). (10191087)
1999
24
Ultrastructural changes of erythrocyte membrane skeletons in chorea-acanthocytosis and McLeod syndrome revealed by the quick-freezing and deep-etching method. (10085435)
1999
25
Chorea-acanthocytosis: genetic linkage to chromosome 9q21. (9382101)
1997
26
Disturbance of hypothalamic-pituitary hormone secretion in familial chorea-acanthocytosis]. (7669403)
1995
27
Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). (7898702)
1995
28
Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family. (7931427)
1994
29
Amyotrophic choreo-acanthocytosis: a neuropathological and immunocytochemical study. (8473152)
1993
30
Acanthocytosis and acute leukaemia. (2407550)
1990
31
Acanthocytosis associated with myelodysplasia. (2778485)
1989
32
Chorea-acanthocytosis: a report of three new families and implications for genetic counselling. (3322006)
1987
33
Sleep spindles in amyotrophic chorea-acanthocytosis disease. (3630790)
1987
34
Chorea-amyotrophy with chronic hemolytic anemia: a variant of chorea-amyotrophy with acanthocytosis. (3561776)
1987
35
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: a clinicopathological study of a unique case. (2427665)
1986
36
Familial tic disorder, parkinsonism, motor neuron disease, and acanthocytosis: a new syndrome. (3974894)
1985
37
Neuropathological study of chorea-acanthocytosis. (6727056)
1984
38
Morphological abnormalities of erythrocyte membrane in the hereditary neurological disease with chorea, areflexia and acanthocytosis. (6216328)
1982
39
Acanthocytosis and cholesterol enrichment decrease lipid fluidity of only the outer human erythrocyte membrane leaflet. (6896363)
1982
40
Cardiomyopathy associated with the syndrome of amyotrophic chorea and acanthocytosis. (7073157)
1982
41
Acanthocytosis. Diagnosis. (5422586)
1970
42
Acanthocytosis with beta-lipoprotein deficiency in an Indian girl. (5491083)
1970
43
Hepatic failure with acanthocytosis: association with hemolytic anemia and deficiency of erythrocyte glutathione peroxidase. (5764797)
1969
44
Hereditary neurological disease with acanthocytosis. A new syndrome. (5677189)
1968
45
Acanthocytosis. (5673037)
1968
46
Phospholipid and phospholipid fatty acid and aldehyde composition of red cells of patients with abetalipoproteinemia (acanthocytosis). Evidence for essential fatty acid deficiency in man. (5651363)
1968
47
Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis). (6023771)
1967
48
DEMYELINATING CENTRAL NERVOUS SYSTEM DISEASE, MACULAR ATROPHY AND ACANTHOCYTOSIS (BASSEN-KORNZWEIG SYNDROME). (14237436)
1964
49
ACQUIRED ACANTHOCYTOSIS AND MYELOPHTHISIS IN A CASE OF EALES'S DISEASE. (14188350)
1963
50
On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea. (13745738)
1960

Variations for Acanthocytosis

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Expression for genes affiliated with Acanthocytosis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Acanthocytosis

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Pathways for genes affiliated with Acanthocytosis

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51PathCards, 56Reactome, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN
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Compounds for genes affiliated with Acanthocytosis

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46Novoseek, 30IUPHAR, 12DrugBank, 25HMDB, 52PharmGKB, 62Tocris Bioscience, 3BitterDB
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Compounds related to Acanthocytosis according to GeneCards/GeneDecks:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
1naoh4610.4SLC4A1, RHD
2oxalate4610.3SLC4A1, RHD
3pluronic f1274610.1LPL, APOB
4pindolol46 30 1212.1PRL, LPL
5iodoacetamide4610.1SLC4A1, TGM2, INSR
6fenofibric acid46 3011.1APOB, LPL
7dids46 3011.0SLC4A1, RHD
8ciprofibrate46 3011.0APOB, LPL
9retinyl palmitate46 2510.9LPL, APOB
10polyethylene glycol469.9INSR, TGM2, PRL
11sodium dodecylsulfate469.9LPL, RPS27A, RHD
12streptozotocin469.8INSR, LPL, RPS27A
13lactacystin469.8RPS27A, APOB, INSR
14fenofibrate46 52 1211.8LPL, APOB, INSR
15metformin46 52 1211.8LPL, APOB, INSR
16estrone46 30 25 1212.7LPL, PRL, APOB
17pioglitazone30 46 52 1212.7INSR, APOB, LPL
18biotin46 25 1211.7RPS27A, LPL, INSR
19lysine469.7SLC4A1, RHD, RPS27A, TGM2
20lovastatin46 52 62 30 1213.7INSR, APOB, LPL
21troglitazone46 30 62 1212.7RPS27A, LPL, INSR
22phospholipid469.7SLC4A1, RHD, LPL, APOB
23intralipid469.6LPL, APOB
24rosiglitazone30 46 52 25 1213.6INSR, APOB, LPL
25herbimycin a46 6210.6RPS27A, LYN, INSR
26dihydrotestosterone46 30 25 1212.6INSR, PRL, LPL
27tamoxifen46 52 30 1212.5RPS27A, LPL, PRL, APOB
28carbohydrates469.5INSR, LPL, RPS27A
29phosphatidylcholine469.5LPL, APOB, GNAQ, INSR
30thyroxine46 2510.5INSR, APOB, PRL, LPL
31h2o2469.4INSR, APOB, LYN, RPS27A, RHD
32cytochalasin d46 6210.4INSR, LYN, LPL, ACTB
33adenylate469.4GNAQ, APOB, LPL, RPS27A, RHD
34atp46 3010.4TGM2, PANK2, LYN, RPS27A, RHD, SLC4A1
35genistein46 30 62 3 25 1214.4LPL, LYN, APOB, INSR
36lactate469.3APOB, LPL, RPS27A, SLC4A1
37palmitate469.3INSR, APOB, LPL, RPS27A, RHD
38polysaccharide469.3INSR, APOB, LPL, RPS27A, RHD
39glutamine469.3INSR, APOB, TGM2, LPL, RPS27A
40cysteine469.3INSR, TGM2, PANK2, XK, RPS27A, SLC4A1
41alanine469.2INSR, APOB, TGM2, RPS27A, SLC4A1
42epinephrine46 25 1211.2INSR, APOB, PRL, LPL, RPS27A
43testosterone46 62 25 1212.2INSR, APOB, PRL, LPL, RPS27A
44dexamethasone46 52 30 1212.1INSR, APOB, PRL, LPL, RPS27A
45dopamine46 30 25 1212.0INSR, TOR1A, PRL, RPS27A
46serine468.7INSR, APOB, TGM2, ADD2, LYN, RPS27A
47glutamate468.6INSR, GNAQ, APOB, TGM2, TOR1A, LPL
48tyrosine468.6INSR, GNAQ, ADD2, TOR1A, LYN, RPS27A
49lipid468.5INSR, GNAQ, APOB, PANK2, LYN, LPL
50glucose468.3SLC4A1, INSR, GNAQ, APOB, TGM2, PRL

GO Terms for genes affiliated with Acanthocytosis

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17Gene Ontology
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Cellular components related to Acanthocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chylomicronGO:0426279.7LPL, APOB
2very-low-density lipoprotein particleGO:0343619.6APOB, LPL
3cortical cytoskeletonGO:0308639.5SLC4A1, ACTB
4endosome membraneGO:0100089.5RPS27A, APOB, INSR
5extracellular vesicular exosomeGO:0700627.4SLC4A1, INSR, GNAQ, VPS13D, VPS13C, TGM2
6plasma membraneGO:0058866.6JPH3, INSR, GNA14, GNAQ, APOB, TGM2

Biological processes related to Acanthocytosis according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1response to carbohydrateGO:0097439.9APOB, LYN
2positive regulation of cholesterol storageGO:0108869.9LPL, APOB
3signal transduction by phosphorylationGO:0230149.8LYN, INSR
4positive regulation of macrophage derived foam cell differentiationGO:0107449.7LPL, APOB
5JAK-STAT cascade involved in growth hormone signaling pathwayGO:0603979.6LYN, PRL
6triglyceride catabolic processGO:0194339.6APOB, LPL
7phospholipase C-activating dopamine receptor signaling pathwayGO:0601589.5GNA14, GNAQ
8blood coagulationGO:0075968.5ACTB, LYN, APOB, GNAQ, GNA14

Molecular functions related to Acanthocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor signaling protein tyrosine kinase activityGO:0047169.9LYN, INSR
2kinesin bindingGO:0198949.8ACTB, TOR1A
3G-protein beta/gamma-subunit complex bindingGO:0316839.1GNAQ, GNA14
4GTP bindingGO:0055258.7INSR, GNA14, GNAQ, TGM2
5protein bindingGO:0055157.1SLC4A1, INSR, GNAQ, VPS13A, APOB, TGM2

Products for genes affiliated with Acanthocytosis

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Sources for Acanthocytosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet