MCID: ACN014
MIFTS: 49

Acanthocytosis malady

Rare diseases category
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Summaries for Acanthocytosis

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NIH Rare Diseases:42 Acanthocytosis is a condition characterized by the presence of abnormally-shaped red blood cells 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 based summary: 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:65 Acanthocyte (from the Greek word ?????? acantha, meaning \'thorn\'), in human biology and medicine,... more...

Aliases & Classifications for Acanthocytosis

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Acanthocytosis, Aliases & Descriptions:

Name: Acanthocytosis 42
 
Abetalipoproteinemia 62


Classifications:

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


Related Diseases for Acanthocytosis

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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
2neuroacanthocytosis31.3PANK2, XK
3huntington's disease30.7JPH3, VPS13A, TGM2
4abetalipoproteinemia30.7APOB, LPL
5pantothenate kinase-associated neurodegeneration30.4JPH3, PANK2
6hereditary spherocytosis30.1SLC4A1, RHD, ADD2
7chorea11.0
8hereditary elliptocytosis10.6SLC4A1
9kernicterus10.5RHD
10congenital dyserythropoietic anemia10.4SLC4A1, RHD
11chylomicron retention disease10.4APOB
12neuroaxonal dystrophy10.4PANK2
13hyperalphalipoproteinemia10.4APOB
14mcleod syndrome10.4
15dentatorubral-pallidoluysian atrophy10.4JPH3
16movement disease10.3PANK2, TOR1A
17levine-critchley syndrome10.3
18vascular dementia10.3RPS27A, TGM2
19neurologic diseases10.3
20retinitis pigmentosa10.2
21neuronitis10.2
22myopathy10.2
23retinitis10.2
24harp syndrome10.2
25ovarian disease10.2INSR, PRL
26acute erythroid leukemia10.2SLC4A1, TGM2, GNAQ
27dilated cardiomyopathy10.2
28hemolytic anemia10.2
29temporal lobe epilepsy10.2
30norum disease10.2LPL, APOB
31familial hypertriglyceridemia10.2APOB, LPL
32xanthomatosis10.1APOB, LPL
33hyperlipidemia type 310.1APOB, LPL
34familial hyperlipidemia10.1LPL, APOB
35parkinson's disease10.1INSR, TGM2, TOR1A, RPS27A
36hypoalphalipoproteinemia10.1APOB, LPL
37hepatitis10.1
38motor neuron disease10.1
39anorexia nervosa10.1
40cerebritis10.1
41dystonia10.1
42hypolipoproteinemia10.1
43neuropathy10.1
44peripheral neuropathy10.1
45mcleod neuroacanthocytosis syndrome10.1
46mcleod syndrome with or without chronic granulomatous disease10.1
47tangier disease10.1APOB, LPL
48uremia10.1INSR, LPL, RHD
49liver cirrhosis10.0RHD, RPS27A, INSR
50hypertension10.0LPL, 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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Drug clinical trials:

Search ClinicalTrials for Acanthocytosis

Search NIH Clinical Center for Acanthocytosis

Genetic Tests for Acanthocytosis

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Anatomical Context for Acanthocytosis

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MalaCards organs/tissues related to Acanthocytosis:

32
Liver, Brain, Temporal lobe, Testes, Globus pallidus, Thalamus, Caudate nucleus, Eye, Skeletal muscle, Tongue, Pituitary, Neutrophil

Animal Models for Acanthocytosis or affiliated genes

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Publications for Acanthocytosis

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Articles related to Acanthocytosis:

(show top 50)    (show all 186)
idTitleAuthorsYear
1
Neuropathological findings in chorea-acanthocytosis: new insights into mechanisms underlying parkinsonism and seizures. (24394886)
2014
2
Facial cellulitis revealing choreo-acanthocytosis: a case report. (25332750)
2014
3
Idiopathic thrombocytopenic purpura and hypokalaemic dRTA with compensated haemolysis and striking acanthocytosis in a band 3 (SLC4A1/AE1) A858D homozygote. (23053187)
2013
4
Chorein, the protein responsible for chorea-acanthocytosis, interacts with I^-adducin and I^-actin. (24129186)
2013
5
Disease distribution in canine patients with acanthocytosis: 123 cases. (24320780)
2013
6
Short and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis. (24223913)
2013
7
Deep brain stimulation of the globus pallidus internal improves symptoms of chorea-acanthocytosis. (21863267)
2012
8
Chorein-sensitive polymerization of cortical actin and suicidal cell death in chorea-acanthocytosis. (22227296)
2012
9
Demonstration of striatopallidal iron deposition in chorea-acanthocytosis by susceptibility-weighted imaging. (20798951)
2011
10
Tongue protrusion and feeding dystonia: a hallmark of chorea-acanthocytosis. (19938148)
2010
11
Development of mesial temporal lobe epilepsy in chorea-acanthocytosis. (20498445)
2010
12
Re: Chorea-acanthocytosis: report of two Brazilian cases. (19373931)
2009
13
Development of mesial temporal lobe epilepsy in chorea-acanthocytosis. (19858465)
2009
14
Chorea-acanthocytosis: report of two Brazilian cases. (18785241)
2008
15
Primary skeletal muscle involvement in chorea-acanthocytosis. (17345646)
2007
16
Self-mutilation in chorea-acanthocytosis: Manifestation of movement disorder or psychopathology? (17044067)
2006
17
Nemaline rods in chorea-acanthocytosis. (15660376)
2005
18
Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. (15918062)
2005
19
Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis. (14663054)
2003
20
Abnormal accumulation of tTGase products in muscle and erythrocytes of chorea-acanthocytosis patients. (12387450)
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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Expression patterns in normal tissues for genes affiliated with Acanthocytosis

Search GEO for disease gene expression data for Acanthocytosis.

Pathways for genes affiliated with Acanthocytosis

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Compounds for genes affiliated with Acanthocytosis

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Compounds related to Acanthocytosis according to GeneCards/GeneDecks:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
1naoh4410.4SLC4A1, RHD
2oxalate4410.3SLC4A1, RHD
3pluronic f1274410.1LPL, APOB
4pindolol44 28 1112.1PRL, LPL
5iodoacetamide4410.1SLC4A1, TGM2, INSR
6fenofibric acid44 2811.1APOB, LPL
7dids44 2811.0SLC4A1, RHD
8ciprofibrate44 2811.0APOB, LPL
9retinyl palmitate44 2410.9LPL, APOB
10polyethylene glycol449.9INSR, TGM2, PRL
11sodium dodecylsulfate449.9LPL, RPS27A, RHD
12streptozotocin449.8INSR, LPL, RPS27A
13lactacystin449.8RPS27A, APOB, INSR
14fenofibrate44 50 1111.8LPL, APOB, INSR
15metformin44 50 1111.8LPL, APOB, INSR
16estrone44 28 24 1112.7LPL, PRL, APOB
17pioglitazone28 44 50 1112.7INSR, APOB, LPL
18biotin44 24 1111.7RPS27A, LPL, INSR
19lysine449.7SLC4A1, RHD, RPS27A, TGM2
20lovastatin44 50 61 28 1113.7INSR, APOB, LPL
21troglitazone44 28 61 1112.7RPS27A, LPL, INSR
22phospholipid449.7SLC4A1, RHD, LPL, APOB
23intralipid449.6LPL, APOB
24rosiglitazone28 44 50 24 1113.6INSR, APOB, LPL
25herbimycin a44 6110.6RPS27A, LYN, INSR
26dihydrotestosterone44 28 24 1112.6INSR, PRL, LPL
27tamoxifen44 50 28 1112.5RPS27A, LPL, PRL, APOB
28carbohydrates449.5INSR, LPL, RPS27A
29phosphatidylcholine449.5LPL, APOB, GNAQ, INSR
30thyroxine44 2410.5INSR, APOB, PRL, LPL
31h2o2449.4INSR, APOB, LYN, RPS27A, RHD
32cytochalasin d44 6110.4INSR, LYN, LPL, ACTB
33adenylate449.4GNAQ, APOB, LPL, RPS27A, RHD
34atp44 2810.4TGM2, PANK2, LYN, RPS27A, RHD, SLC4A1
35genistein44 28 61 2 24 1114.4LPL, LYN, APOB, INSR
36lactate449.3APOB, LPL, RPS27A, SLC4A1
37palmitate449.3INSR, APOB, LPL, RPS27A, RHD
38polysaccharide449.3INSR, APOB, LPL, RPS27A, RHD
39glutamine449.3INSR, APOB, TGM2, LPL, RPS27A
40cysteine449.3INSR, TGM2, PANK2, XK, RPS27A, SLC4A1
41alanine449.2INSR, APOB, TGM2, RPS27A, SLC4A1
42epinephrine44 24 1111.2INSR, APOB, PRL, LPL, RPS27A
43testosterone44 61 24 1112.2INSR, APOB, PRL, LPL, RPS27A
44dexamethasone44 50 28 1112.1INSR, APOB, PRL, LPL, RPS27A
45dopamine44 28 24 1112.0INSR, TOR1A, PRL, RPS27A
46serine448.7INSR, APOB, TGM2, ADD2, LYN, RPS27A
47glutamate448.6INSR, GNAQ, APOB, TGM2, TOR1A, LPL
48tyrosine448.6INSR, GNAQ, ADD2, TOR1A, LYN, RPS27A
49lipid448.5INSR, GNAQ, APOB, PANK2, LYN, LPL
50glucose448.3SLC4A1, INSR, GNAQ, APOB, TGM2, PRL

GO Terms for genes affiliated with Acanthocytosis

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet