MCID: VSC018
MIFTS: 33

Visceral Steatosis malady

Rare diseases, Liver diseases categories
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Summaries for Visceral Steatosis

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MalaCards based summary: Visceral Steatosis, also known as fatal neonatal hepatic steatosis, is related to carnitine palmitoyltransferase ii deficiency and fatty liver disease, and has symptoms including An important gene associated with Visceral Steatosis is SLC22A5 (solute carrier family 22 (organic cation/carnitine transporter), member 5), and among its related pathways are PPAR signaling pathway and AMPK Enzyme Complex Pathway. The compounds L-Palmitoylcarnitine and etomoxir have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and hypothalamus.

Aliases & Classifications for Visceral Steatosis

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Sources:
42NIH Rare Diseases, 62UMLS, 44Novoseek
See all sources

Visceral Steatosis, Aliases & Descriptions:

Name: Visceral Steatosis 42 44
Fatal Neonatal Hepatic Steatosis 42 62
Fatty Metamorphosis of Viscera 42 62
 
Steatosis of Liver 42 62
White Liver Disease 42


Classifications:

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


Related Diseases for Visceral Steatosis

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Diseases related to Visceral Steatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1carnitine palmitoyltransferase ii deficiency10.2CPT1A
2fatty liver disease10.1
3azoospermia10.1
4hypoglycemia10.1CPT1A
5carnitine palmitoyl transferase 1 deficiency9.9CPT1B, CPT1A
6obesity9.9CPT1B, CPT1A

Graphical network of diseases related to Visceral Steatosis:



Diseases related to visceral steatosis

Symptoms for Visceral Steatosis

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HPO human phenotypes related to Visceral Steatosis:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 abnormality of the genitourinary system HP:0000119
3 renal steatosis HP:0000799
4 jaundice HP:0000952
5 seizures HP:0001250
6 muscular hypotonia HP:0001252
7 lethargy HP:0001254
8 coma HP:0001259
9 kernicterus HP:0001343
10 hepatic steatosis HP:0001397
11 abnormal bleeding HP:0001892
12 hypoglycemia HP:0001943
13 hypocalcemia HP:0002901
14 myocardial steatosis HP:0006693

Drugs & Therapeutics for Visceral Steatosis

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Drug clinical trials:

Search ClinicalTrials for Visceral Steatosis

Search NIH Clinical Center for Visceral Steatosis

Genetic Tests for Visceral Steatosis

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Anatomical Context for Visceral Steatosis

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MalaCards organs/tissues related to Visceral Steatosis:

32
Liver, Heart, Hypothalamus

Animal Models for Visceral Steatosis or affiliated genes

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Publications for Visceral Steatosis

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Articles related to Visceral Steatosis:

(show all 33)
idTitleAuthorsYear
1
Failure of the feeding response to fasting in carnitine-deficient juvenile visceral steatosis (JVS) mice: involvement of defective acyl-ghrelin secretion and enhanced corticotropin-releasing factor signaling in the hypothalamus. (19744557)
2009
2
Expression and distribution of OCTN2 in mouse epididymis and its association with obstructive azoospermia in juvenile visceral steatosis mice. (16734862)
2006
3
Attenuation of cardiac hypertrophy in carnitine-deficient juvenile visceral steatosis (JVS) mice achieved by lowering dietary lipid. (16452314)
2006
4
Identification of the up- and down-regulated genes in the heart of juvenile visceral steatosis mice. (15056854)
2004
5
Functional disorders of the oxidative phosphorylation system in the heart mitochondria of mice with juvenile visceral steatosis. (12612434)
2003
6
Effect of gamma-butyrobetaine on fatty liver in juvenile visceral steatosis mice. (11341370)
2001
7
The signaling pathway of cardiotrophin-1 is not activated in hypertrophied ventricles of carnitine-deficient juvenile visceral steatosis (JVS) mice. (10904873)
2000
8
Antagonizing effect of AP-1 on glucocorticoid induction of urea cycle enzymes: a study of hyperammonemia in carnitine-deficient, juvenile visceral steatosis mice. (11136545)
2000
9
Dysfunctions of the epididymis as a result of primary carnitine deficiency in juvenile visceral steatosis mice. (10100867)
1999
10
Decreased tissue distribution of L-carnitine in juvenile visceral steatosis mice. (10087008)
1999
11
Loss of wild-type carrier-mediated L-carnitine transport activity in hepatocytes of juvenile visceral steatosis mice. (10498652)
1999
12
Cardiomegaly in the juvenile visceral steatosis (JVS) mouse is reduced with acute elevation of heart short-chain acyl-carnitine level after L-carnitine injection. (10025944)
1999
13
Catecholamine metabolism inhibitors and receptor blockades only partially suppress cardiac hypertrophy of juvenile visceral steatosis mice with systemic carnitine deficiency. (10210276)
1999
14
Pyruvate dehydrogenase kinase 4 mRNA is increased in the hypertrophied ventricles of carnitine-deficient juvenile visceral steatosis (JVS) mice. (10609898)
1999
15
Characteristics of cardiac hypertrophy in the juvenile visceral steatosis mouse with systemic carnitine deficiency. (9602426)
1998
16
A missense mutation of mouse OCTN2, a sodium-dependent carnitine cotransporter, in the juvenile visceral steatosis mouse. (9837751)
1998
17
Suppressed expression of the urea cycle enzyme genes in the liver of carnitine-deficient juvenile visceral steatosis (JVS) mice in infancy and during starvation in adulthood. (9058209)
1997
18
A novel gene suppressed in the ventricle of carnitine-deficient juvenile visceral steatosis mice. (9187371)
1997
19
Secondary abnormality of carnitine biosynthesis results from carnitine reabsorptional system defect in juvenile visceral steatosis mice. (9540857)
1997
20
Abnormal gene expression causing hyperammonemia in carnitine-deficient juvenile visceral steatosis (JVS) mice. (9286432)
1997
21
The effect of carnitine on ketogenesis in perfused livers from juvenile visceral steatosis mice with systemic carnitine deficiency. (9212045)
1997
22
Altered expression of carnitine palmitoyltransferase II in liver, muscle, and heart of mouse strain with juvenile visceral steatosis. (8605222)
1996
23
Disordered expression of glycolytic and gluconeogenic liver enzymes of juvenile visceral steatosis mice with systemic carnitine deficiency. (8858199)
1996
24
Increased expression of carnitine palmitoyltransferase I gene is repressed by administering L-carnitine in the hearts of carnitine-deficient juvenile visceral steatosis mice. (8830050)
1996
25
Carnitine transport defect in fibroblasts of juvenile visceral steatosis (JVS) mouse. (8670273)
1996
26
Mapping of jvs (juvenile visceral steatosis) gene, which causes systemic carnitine deficiency in mice, on chromosome 11. (7626891)
1995
27
Mitochondrial abnormalities of muscle tissue in mice with juvenile visceral steatosis associated with systemic carnitine deficiency. (7773507)
1995
28
Primary defect of juvenile visceral steatosis (jvs) mouse with systemic carnitine deficiency is probably in renal carnitine transport system. (8155735)
1994
29
Cardiac hypertrophy in juvenile visceral steatosis (jvs) mice with systemic carnitine deficiency. (8325377)
1993
30
Abnormal expression of urea cycle enzyme genes in juvenile visceral steatosis (jvs) mice. (1540663)
1992
31
Proto-oncogene c-jun and c-fos messenger RNAs increase in the liver of carnitine-deficient juvenile visceral steatosis (jvs) mice. (1383034)
1992
32
Carnitine administration to juvenile visceral steatosis mice corrects the suppressed expression of urea cycle enzymes by normalizing their transcription. (1544887)
1992
33
Animal model of systemic carnitine deficiency: analysis in C3H-H-2 degrees strain of mouse associated with juvenile visceral steatosis. (1996978)
1991

Variations for Visceral Steatosis

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Expression for genes affiliated with Visceral Steatosis

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Expression patterns in normal tissues for genes affiliated with Visceral Steatosis

Search GEO for disease gene expression data for Visceral Steatosis.

Pathways for genes affiliated with Visceral Steatosis

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Pathways related to Visceral Steatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
fatty acid beta-oxidation VI (peroxisome)37
9.1CPT1B, CPT1A
2
Show member pathways
9.1CPT1B, CPT1A
3
Show member pathways
9.1CPT1B, CPT1A
49.1CPT1B, CPT1A
59.1CPT1A, CPT1B
69.1CPT1B, CPT1A
79.1CPT1B, CPT1A
8
Show member pathways
mitochondrial L-carnitine shuttle pathway37
Saturated fatty acid biosynthesis60
9.1CPT1B, CPT1A
9
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)37
Fatty Acid Beta Oxidation37
9.1CPT1B, CPT1A

Compounds for genes affiliated with Visceral Steatosis

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Sources:
24HMDB, 44Novoseek, 11DrugBank
See all sources

Compounds related to Visceral Steatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 132)
idCompoundScoreTop Affiliating Genes
1L-Palmitoylcarnitine249.6CPT1A, CPT1B
2etomoxir449.6CPT1A, CPT1B
3malonyl-coa44 2410.6CPT1B, CPT1A
4TG(18:0/18:2(9Z,12Z)/20:0)[iso6]249.6CPT1A, CPT1B
5TG(18:0/18:2(9Z,12Z)/20:1(11Z))[iso6]249.6CPT1B, CPT1A
6TG(18:0/18:2(9Z,12Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.6CPT1B, CPT1A
7TG(18:0/20:0/20:0)[iso3]249.6CPT1B, CPT1A
8TG(18:0/20:0/20:1(11Z))[iso6]249.6CPT1B, CPT1A
9TG(18:0/18:2(9Z,12Z)/18:2(9Z,12Z))[iso3]249.6CPT1A, CPT1B
10TG(16:1(9Z)/20:0/20:4(5Z,8Z,11Z,14Z))[iso6]249.6CPT1A, CPT1B
11TG(16:1(9Z)/20:1(11Z)/20:1(11Z))[iso3]249.6CPT1B, CPT1A
12TG(16:1(9Z)/20:1(11Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.5CPT1B, CPT1A
13TG(16:1(9Z)/20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.5CPT1B, CPT1A
14TG(18:0/18:0/18:0)249.5CPT1B, CPT1A
15TG(18:1(9Z)/18:2(9Z,12Z)/20:1(11Z))[iso6]249.5CPT1B, CPT1A
16TG(18:1(9Z)/18:2(9Z,12Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.5CPT1B, CPT1A
17TG(18:2(9Z,12Z)/20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.5CPT1B, CPT1A
18TG(20:0/20:0/20:0)249.5CPT1B, CPT1A
19TG(20:0/20:0/20:1(11Z))[iso3]249.5CPT1B, CPT1A
20TG(20:0/20:0/20:4(5Z,8Z,11Z,14Z))[iso3]249.5CPT1B, CPT1A
21TG(20:0/20:1(11Z)/20:1(11Z))[iso3]249.5CPT1B, CPT1A
22TG(18:2(9Z,12Z)/20:1(11Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.5CPT1A, CPT1B
23TG(18:1(9Z)/20:0/20:0)[iso3]249.5CPT1B, CPT1A
24TG(18:1(9Z)/20:0/20:1(11Z))[iso6]249.5CPT1B, CPT1A
25TG(18:1(9Z)/20:0/20:4(5Z,8Z,11Z,14Z))[iso6]249.5CPT1B, CPT1A
26TG(18:1(9Z)/20:1(11Z)/20:1(11Z))[iso3]249.5CPT1B, CPT1A
27TG(12:0/12:0/12:0)249.5CPT1B, CPT1A
28TG(16:0/18:0/18:0)[iso3]249.5CPT1B, CPT1A
29TG(16:0/18:0/18:1(9Z))[iso6]249.5CPT1B, CPT1A
30TG(16:0/18:2(9Z,12Z)/18:2(9Z,12Z))[iso3]249.5CPT1B, CPT1A
31TG(16:0/18:2(9Z,12Z)/20:0)[iso6]249.5CPT1B, CPT1A
32TG(16:0/18:2(9Z,12Z)/20:1(11Z))[iso6]249.4CPT1B, CPT1A
33TG(16:0/16:1(9Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.4CPT1A, CPT1B
34TG(16:0/16:1(9Z)/18:1(9Z))[iso6]249.4CPT1B, CPT1A
35TG(16:0/16:1(9Z)/18:2(9Z,12Z))[iso6]249.4CPT1B, CPT1A
36TG(16:0/16:1(9Z)/20:0)[iso6]249.4CPT1B, CPT1A
37TG(16:0/16:1(9Z)/20:1(11Z))[iso6]249.4CPT1B, CPT1A
38TG(16:0/18:2(9Z,12Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.4CPT1B, CPT1A
39TG(16:1(9Z)/18:0/18:2(9Z,12Z))[iso6]249.4CPT1A, CPT1B
40TG(16:1(9Z)/18:0/20:0)[iso6]249.3CPT1B, CPT1A
41TG(16:1(9Z)/18:0/20:1(11Z))[iso6]249.3CPT1B, CPT1A
42TG(16:1(9Z)/18:0/20:4(5Z,8Z,11Z,14Z))[iso6]249.3CPT1B, CPT1A
43TG(16:1(9Z)/20:0/20:1(11Z))[iso6]249.2CPT1B, CPT1A
44TG(16:1(9Z)/18:0/18:1(9Z))[iso6]249.2CPT1A, CPT1B
45TG(16:0/20:0/20:0)[iso3]249.1CPT1B, CPT1A
46TG(16:1(9Z)/18:0/18:0)[iso3]249.1CPT1B, CPT1A
47TG(16:0/20:0/20:1(11Z))[iso6]249.0CPT1B, CPT1A
48L-Carnitine24 1110.0SLC22A5, CPT1A, CPT1B
49carnitine449.0SLC22A5, CPT1B, CPT1A
50TG(16:0/20:0/20:4(5Z,8Z,11Z,14Z))[iso6]248.8CPT1B, CPT1A

GO Terms for genes affiliated with Visceral Steatosis

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Cellular components related to Visceral Steatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:0057419.1CPT1B, CPT1A

Biological processes related to Visceral Steatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular lipid metabolic processGO:0442559.1CPT1B, CPT1A
2carnitine shuttleGO:0068539.0CPT1B, CPT1A
3fatty acid beta-oxidationGO:0066358.8CPT1B, CPT1A

Molecular functions related to Visceral Steatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1carnitine O-palmitoyltransferase activityGO:0040959.1CPT1B, CPT1A

Products for genes affiliated with Visceral Steatosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Visceral Steatosis

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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