MCID: ACN014
MIFTS: 43

Acanthocytosis malady

Summaries for Acanthocytosis

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43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Acanthocytosis, also known as abetalipoproteinemia, is related to chorea-acanthocytosis and abetalipoproteinemia. An important gene associated with Acanthocytosis is VPS13A (vacuolar protein sorting 13 homolog A (S. cerevisiae)), and among its related pathways are Regulation of Insulin Secretion by Free Fatty Acids and Signaling events mediated by PTP1B. The compounds naoh and palmitate have been mentioned in the context of this disorder. Affiliated tissues include liver, tongue and brain, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Wikipedia:64 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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61UMLS, 43NIH Rare Diseases
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Aliases & Descriptions:

acanthocytosis 43
abetalipoproteinemia 61


Related Diseases for Acanthocytosis

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17GeneCards, 18GeneDecks
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Diseases related to Acanthocytosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 98)
idRelated DiseaseScoreTop Affiliating Genes
1chorea-acanthocytosis31.4XK, JPH3, VPS13C, VPS13D, VPS13A, GNA14
2abetalipoproteinemia30.4LPL, APOB
3parkinson's disease29.8RPS27A
4hereditary spherocytosis29.8RHD, SLC4A1
5chorea10.9
6mcleod syndrome10.3
7levine-critchley syndrome10.3
8n syndrome10.3
9retinitis pigmentosa10.2
10angioid streaks10.2
11rickets10.2
12temporal lobe epilepsy10.2
13harp syndrome10.2
14anorexia nervosa10.1
15mcleod neuroacanthocytosis syndrome10.1
16mcleod syndrome with or without chronic granulomatous disease10.1
17growth hormone deficiency10.0PRL
18acromegaly10.0PRL
19amenorrhea10.0PRL
20congenital dyserythropoietic anemia10.0RHD, SLC4A1
21myopathy10.0RPS27A, XK
22hereditary elliptocytosis10.0SLC4A1
23glomerulonephritis10.0RPS27A, LYN
24pancreatitis10.0LPL
25amyotrophic lateral sclerosis10.0TGM2, RPS27A
26neuroacanthocytosis10.0XK, PANK2
27pantothenate kinase-associated neurodegeneration10.0PANK2, JPH3
28neuroaxonal dystrophy10.0PANK2
29hepatitis c10.0LPL
30ischemia10.0INSR, TGM2
31movement disease10.0TOR1A, PANK2
32polycystic ovary syndrome10.0PRL, INSR
33dentatorubral-pallidoluysian atrophy10.0JPH3, RPS27A
34ovarian disease10.0INSR, PRL
35hyperalphalipoproteinemia10.0APOB
36hyperandrogenism10.0PRL, INSR
37lipoprotein lipase deficiency10.0LPL
38metabolic syndrome x10.0LPL
39leukemia10.0LYN, LPL, RHD
40schizophrenia10.0PRL, RHD, INSR
41huntington's disease10.0VPS13A, JPH3, XK, RPS27A, TGM2
42hypothyroidism10.0APOB, PRL
43uremia10.0INSR, LPL, RHD
44dementia10.0RPS27A, LPL, INSR
45primary hyperoxaluria10.0APOB, LPL
46norum disease10.0APOB, LPL
47colorectal cancer10.0RPS27A, INSR, LPL
48hyperlipidemia type 310.0LPL, APOB
49familial hypertriglyceridemia10.0APOB, LPL
50hypoalphalipoproteinemia10.0APOB, LPL

Graphical network of the top 20 diseases related to Acanthocytosis:



Diseases related to acanthocytosis

Clinical Features for Acanthocytosis

Drugs & Therapeutics for Acanthocytosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Acanthocytosis

Anatomical Context for Acanthocytosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Acanthocytosis:

33
Liver, Tongue, Brain, Skeletal muscle, Temporal lobe, Globus pallidus, Thalamus, Caudate nucleus, Pituitary

Animal Models for Acanthocytosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Acanthocytosis

Sources:
51PubMed
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Articles related to Acanthocytosis:

(show top 50)    (show all 184)
idTitleAuthorsYear
1
Idiopathic thrombocytopenic purpura and hypokalaemic dRTA with compensated haemolysis and striking acanthocytosis in a band 3 (SLC4A1/AE1) A858D homozygote. (23053187)
2013
2
Psychiatric symptoms in a woman with chorea-acanthocytosis. (23592074)
2013
3
Chorea-acanthocytosis: report of three cases from Iran. (23199253)
2012
4
Demonstration of striatopallidal iron deposition in chorea-acanthocytosis by susceptibility-weighted imaging. (20798951)
2011
5
Bilateral temporal lobe epilepsy confirmed with intracranial EEG in chorea-acanthocytosis. (21251854)
2011
6
Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred. (21987550)
2011
7
Re: Chorea-acanthocytosis: report of two Brazilian cases. (19373931)
2009
8
Deep brain stimulation in chorea acanthocytosis. (19425062)
2009
9
Chorea-acanthocytosis presenting with schizophrenia symptoms as first symptoms. (19335401)
2009
10
Chorea-acanthocytosis: report of two Brazilian cases. (18785241)
2008
11
Vacuolation of neutrophils and acanthocytosis in child with medium chain acyl-CoA dehydrogenase deficiency. (18215202)
2008
12
Adolescent obsessive compulsive disorder heralding chorea-acanthocytosis. (18058950)
2008
13
Neurologic phenotypes associated with acanthocytosis. (17210889)
2007
14
Acute hemolytic anemia with acanthocytosis associated with high-dose misoprostol for medical abortion. (17084939)
2007
15
Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry study. (16874760)
2006
16
Acanthocytosis as a predisposing factor for non-ketotic hyperglycaemia induced chorea-ballism. (16291901)
2005
17
Chorein detection for the diagnosis of chorea-acanthocytosis. (15293285)
2004
18
Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula. (12671946)
2003
19
Abnormal accumulation of tTGase products in muscle and erythrocytes of chorea-acanthocytosis patients. (12387450)
2002
20
Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation. (11940084)
2002
21
Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions. (11940688)
2002
22
Ultrastructural changes of erythrocyte membrane skeletons in chorea-acanthocytosis and McLeod syndrome revealed by the quick-freezing and deep-etching method. (10085435)
1999
23
Cerebral hypoperfusion and hypometabolism with altered striatal signal intensity in chorea-acanthocytosis: a combined PET and MRI study. (9452334)
1998
24
Cerebral hypoperfusion and hypometabolism in chorea-acanthocytosis. (9756164)
1998
25
Disturbance of hypothalamic-pituitary hormone secretion in familial chorea-acanthocytosis]. (7669403)
1995
26
Red cell lipid abnormalities in acquired acanthocytosis are extended to platelets. (7993804)
1994
27
Erythrocyte anion transporter and antibrain immunoreactivity in chorea-acanthocytosis. A contribution to etiology, genetics, and diagnosis. (8186997)
1994
28
Amyotrophic choreo-acanthocytosis: a neuropathological and immunocytochemical study. (8473152)
1993
29
Choreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus. (8310821)
1993
30
Chorea-acanthocytosis: report of a family and neuropathological study of two cases. (2804805)
1989
31
A new family with hereditary choreo-acanthocytosis. (3115032)
1987
32
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: a clinicopathological study of a unique case. (2427665)
1986
33
Amyotrophic choreo-acanthocytosis: a new observation in southern Europe. (3727925)
1986
34
Peripheral nerve involvement in familial chorea-acanthocytosis. (2947975)
1986
35
Familial amyotrophic chorea with acanthocytosis. New clinical and laboratory investigations. (4026606)
1985
36
Mechanism of red blood cell acanthocytosis and echinocytosis in vivo. (6708089)
1984
37
Mcleod syndrome (hemolysis, acanthocytosis, and increased serum creatine kinase): potential confusion with polymyositis. (6860383)
1983
38
Acanthocytosis and cholesterol enrichment decrease lipid fluidity of only the outer human erythrocyte membrane leaflet. (6896363)
1982
39
Ganglioside abnormality in amyotrophic chorea with acanthocytosis. (6125842)
1982
40
Involuntary movements in chorea-acanthocytosis: a comparison with Huntington's chorea. (6215892)
1982
41
A retrospective study of canine hemangiosarcoma and its association with acanthocytosis. (7195770)
1981
42
Acanthocytosis and haemolytic anaemia due to the McLeod blood group. (6944044)
1981
43
Neurogenic muscular atrophy and low density of large myelinated fibres of sural nerve in chorea-acanthocytosis. (7288454)
1981
44
Fine structural changes in the sural nerve of patients with acanthocytosis. (4637007)
1972
45
Acanthocytosis with beta-lipoprotein deficiency in an Indian girl. (5491083)
1970
46
Hepatitis secondary to pyrazinamide toxicity: accompaniments of transient hypolipoproteinemia, acanthocytosis, and changes in stomach and small bowel. (5411920)
1970
47
Hereditary neurological disease with acanthocytosis. A new syndrome. (5677189)
1968
48
Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis). (6023771)
1967
49
Precipitin activity in the sera of patients with deficiency of beta-lipoproteins (acanthocytosis). (4957260)
1965
50
On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea. (13745738)
1960

Genetic Variations for Acanthocytosis

Expression for genes affiliated with Acanthocytosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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54Reactome, 38NCBI BioSystems Database, 12EMD Millipore
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Compounds for genes affiliated with Acanthocytosis

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45Novoseek, 29IUPHAR, 11DrugBank, 50PharmGKB, 24HMDB, 60Tocris Bioscience, 2BitterDB
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Compounds related to Acanthocytosis according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1naoh4510.3SLC4A1, RHD
2palmitate4510.3RPS27A, RHD
3oxalate4510.2RHD, SLC4A1
4pindolol45 29 1112.0LPL, PRL
5pluronic f1274510.0LPL, APOB
6fenofibric acid45 2910.9APOB, LPL
7rosiglitazone45 50 29 11 2413.9INSR
8iodoacetamide459.8INSR, SLC4A1, TGM2
9sodium dodecylsulfate459.7RHD, LPL, RPS27A
10ciprofibrate45 2910.7LPL, APOB
11polyethylene glycol459.6PRL, INSR, TGM2
12streptozotocin459.6INSR, LPL, RPS27A
13retinyl palmitate45 2410.6APOB, LPL
14estrone45 29 11 2412.5PRL, LPL, APOB
15fenofibrate45 50 1111.5APOB, LPL, INSR
16metformin45 50 1111.5INSR, LPL, APOB
17pioglitazone45 50 29 1112.5APOB, LPL, INSR
18lactacystin459.4INSR, APOB, RPS27A
19phospholipid459.4APOB, LPL, RHD, SLC4A1
20biotin45 11 2411.4INSR, LPL, RPS27A
21cysteine459.4XK, RPS27A, SLC4A1, PANK2, TGM2
22lovastatin45 50 60 29 1113.3APOB, LPL, INSR
23tamoxifen45 50 29 1112.3RPS27A, APOB, LPL, PRL
24glucose459.2SLC4A1, INSR, RHD, LPL, GNAQ
25phosphatidylcholine459.2GNAQ, APOB, LPL, INSR
26thyroxine45 2410.1INSR, PRL, LPL, APOB
27adenylate459.1RPS27A, GNAQ, APOB, LPL, RHD
28atp45 2910.1RPS27A, RHD, SLC4A1, PANK2, LYN, TGM2
29h2o2459.0LYN, INSR, RHD, APOB, RPS27A
30polysaccharide458.9INSR, RHD, LPL, APOB, RPS27A
31troglitazone45 29 60 1111.9INSR, LPL, RPS27A
32glutamine458.9RPS27A, APOB, LPL, INSR, TGM2
33epinephrine45 11 2410.8RPS27A, APOB, LPL, PRL, INSR
34genistein45 29 60 2 11 2413.8LYN, INSR, LPL, APOB
35testosterone45 60 11 2411.7INSR, PRL, LPL, APOB, RPS27A
36tyrosine458.5RPS27A, GNAQ, TOR1A, RHD, INSR, SLC4A1
37dexamethasone45 50 29 1111.5RPS27A, APOB, LPL, PRL, INSR
38glutamate458.1RPS27A, GNAQ, APOB, LPL, TOR1A, INSR
39lipid458.1GNAQ, APOB, LPL, RHD, INSR, SLC4A1

GO Terms for genes affiliated with Acanthocytosis

Sources:
16Gene Ontology
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Cellular components related to Acanthocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1very-low-density lipoprotein particleGO:0343619.6LPL, APOB
2chylomicronGO:0426279.3LPL, APOB
3plasma membraneGO:0058866.5TGM2, RPS27A, GNA14, GNAQ, APOB, LPL

Biological processes related to Acanthocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to carbohydrate stimulusGO:0097439.9LYN, APOB
2positive regulation of cholesterol storageGO:0108869.7LPL, APOB
3triglyceride catabolic processGO:0194339.6LPL, APOB
4signal transduction by phosphorylationGO:0230149.6INSR, LYN
5phospholipase C-activating dopamine receptor signaling pathwayGO:0601589.4GNA14, GNAQ
6positive regulation of macrophage derived foam cell differentiationGO:0107449.3LPL, APOB

Molecular functions related to Acanthocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor signaling protein tyrosine kinase activityGO:0047169.4LYN, INSR
2GTP bindingGO:0055258.5TGM2, INSR, GNAQ, GNA14

Products for genes affiliated with Acanthocytosis

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Sources for Acanthocytosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet