Acanthocytosis malady

Summaries for Acanthocytosis

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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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: 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 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, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Wikipedia:63 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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60UMLS, 42NIH Rare Diseases
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Aliases & Descriptions:

acanthocytosis 42
abetalipoproteinemia 60

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 104)
idRelated DiseaseScoreTop Affiliating Genes
1chorea-acanthocytosis31.3JPH3, VPS13C, VPS13A, VPS13D, GNA14, XK
2neuroacanthocytosis30.5PANK2, XK
3abetalipoproteinemia30.3LPL, APOB
4myopathy30.2RPS27A, XK
5huntington's disease30.0XK, RPS27A, VPS13A, JPH3, TGM2
6hereditary spherocytosis29.8RHD, SLC4A1
7pantothenate kinase-associated neurodegeneration29.8PANK2, JPH3
8schizophrenia29.8INSR, PRL, RHD
9mcleod syndrome10.3
10levine-critchley syndrome10.3
11neurologic diseases10.2
12retinitis pigmentosa10.2
15angioid streaks10.2
17temporal lobe epilepsy10.1
18dilated cardiomyopathy10.1
19hemolytic anemia10.1
20retinal degeneration10.1
22anorexia nervosa10.0
25motor neuron disease10.0
26mcleod neuroacanthocytosis syndrome10.0
27mcleod syndrome with or without chronic granulomatous disease10.0
28growth hormone deficiency10.0PRL
31parkinson's disease10.0RPS27A
32congenital dyserythropoietic anemia10.0SLC4A1, RHD
33hereditary elliptocytosis10.0SLC4A1
34glomerulonephritis10.0LYN, RPS27A
36amyotrophic lateral sclerosis10.0RPS27A, TGM2
37neuroaxonal dystrophy10.0PANK2
38hepatitis c10.0LPL
39ischemia10.0INSR, TGM2
40movement disease10.0TOR1A, PANK2
41polycystic ovary syndrome10.0PRL, INSR
43dentatorubral-pallidoluysian atrophy10.0JPH3, RPS27A
44ovarian disease10.0INSR, PRL
45hyperandrogenism10.0INSR, PRL
46lipoprotein lipase deficiency10.0LPL
47metabolic syndrome x10.0LPL
48leukemia10.0LYN, RHD, LPL
49hypothyroidism10.0PRL, APOB
50uremia10.0INSR, RHD, LPL

Graphical network of the top 20 diseases related to Acanthocytosis:

Diseases related to acanthocytosis

Clinical Features for Acanthocytosis

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Drugs & Therapeutics for Acanthocytosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Acanthocytosis

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Anatomical Context for Acanthocytosis

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MalaCards organs/tissues related to Acanthocytosis:


Animal Models for Acanthocytosis or affiliated genes

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MGI Mouse Phenotypes related to Acanthocytosis:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.2GNAQ, INSR, SLC4A1, PANK2, LYN, TGM2
2MP:00053708.1APOB, LPL, PRL, INSR, PANK2, LYN
3MP:00053868.0VPS13A, JPH3, TOR1A, PRL, INSR, PANK2
4MP:00053978.0GNAQ, VPS13A, RHD, INSR, SLC4A1, PANK2
5MP:00036317.4JPH3, APOB, VPS13A, GNAQ, TOR1A, PRL
6MP:00053767.0TGM2, GNAQ, APOB, LPL, TOR1A, RHD
7MP:00107686.7LPL, APOB, VPS13D, GNAQ, JPH3, TOR1A

Publications for Acanthocytosis

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Genetic Variations for Acanthocytosis

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Expression for genes affiliated with Acanthocytosis

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1BioGPS, 15Gene 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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53Reactome, 37NCBI BioSystems Database, 12EMD Millipore
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Compounds for genes affiliated with Acanthocytosis

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44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Acanthocytosis according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1naoh4410.3SLC4A1, RHD
2palmitate4410.3RPS27A, RHD
3oxalate4410.2RHD, SLC4A1
4pindolol44 28 1112.0LPL, PRL
5pluronic f1274410.0LPL, APOB
6fenofibric acid44 2810.9APOB, LPL
7rosiglitazone44 49 28 11 2413.9INSR
8iodoacetamide449.8INSR, SLC4A1, TGM2
9sodium dodecylsulfate449.7RHD, LPL, RPS27A
10ciprofibrate44 2810.7LPL, APOB
11polyethylene glycol449.6PRL, INSR, TGM2
12streptozotocin449.6INSR, LPL, RPS27A
13retinyl palmitate44 2410.6APOB, LPL
14estrone44 28 11 2412.5PRL, LPL, APOB
15fenofibrate44 49 1111.5APOB, LPL, INSR
16metformin44 49 1111.5INSR, LPL, APOB
17pioglitazone44 49 28 1112.5APOB, LPL, INSR
18lactacystin449.4INSR, APOB, RPS27A
19phospholipid449.4APOB, LPL, RHD, SLC4A1
20biotin44 11 2411.4INSR, LPL, RPS27A
21cysteine449.4XK, RPS27A, SLC4A1, PANK2, TGM2
22lovastatin44 49 59 28 1113.3APOB, LPL, INSR
23tamoxifen44 49 28 1112.3RPS27A, APOB, LPL, PRL
24glucose449.2SLC4A1, INSR, RHD, LPL, GNAQ
25phosphatidylcholine449.2GNAQ, APOB, LPL, INSR
26thyroxine44 2410.1INSR, PRL, LPL, APOB
27adenylate449.1RPS27A, GNAQ, APOB, LPL, RHD
28atp44 2810.1RPS27A, RHD, SLC4A1, PANK2, LYN, TGM2
29h2o2449.0LYN, INSR, RHD, APOB, RPS27A
30polysaccharide448.9INSR, RHD, LPL, APOB, RPS27A
31troglitazone44 28 59 1111.9INSR, LPL, RPS27A
32glutamine448.9RPS27A, APOB, LPL, INSR, TGM2
33epinephrine44 11 2410.8RPS27A, APOB, LPL, PRL, INSR
34genistein44 28 59 2 11 2413.8LYN, INSR, LPL, APOB
35testosterone44 59 11 2411.7INSR, PRL, LPL, APOB, RPS27A
36tyrosine448.5RPS27A, GNAQ, TOR1A, RHD, INSR, SLC4A1
37dexamethasone44 49 28 1111.5RPS27A, APOB, LPL, PRL, INSR
38glutamate448.1RPS27A, GNAQ, APOB, LPL, TOR1A, INSR
39lipid448.1GNAQ, APOB, LPL, RHD, INSR, SLC4A1

GO Terms for genes affiliated with Acanthocytosis

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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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  • Antibodies
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Sources for Acanthocytosis

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26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
61UMLS via Orphanet