MCID: VSC053
MIFTS: 34

Visceral Steatosis, Congenital

Categories: Liver diseases, Rare diseases

Aliases & Classifications for Visceral Steatosis, Congenital

MalaCards integrated aliases for Visceral Steatosis, Congenital:

Name: Visceral Steatosis, Congenital 57
Fatty Metamorphosis of Viscera 57 71
Fatty Liver Disease, Congenital 57
White Liver Disease 57
Steatosis of Liver 57
Liver Steatosis 6

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
visceral steatosis, congenital:
Onset and clinical course neonatal death
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Visceral Steatosis, Congenital

MalaCards based summary : Visceral Steatosis, Congenital, also known as fatty metamorphosis of viscera, is related to visceral steatosis and fatty liver disease. An important gene associated with Visceral Steatosis, Congenital is PRMT7 (Protein Arginine Methyltransferase 7). The drugs Amlodipine and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and skeletal muscle, and related phenotypes are hypoglycemia and hepatic steatosis

More information from OMIM: 228100

Related Diseases for Visceral Steatosis, Congenital

Diseases in the Visceral Steatosis family:

Visceral Steatosis, Congenital

Diseases related to Visceral Steatosis, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 165)
# Related Disease Score Top Affiliating Genes
1 visceral steatosis 11.6
2 fatty liver disease 11.2
3 lipodystrophy, familial partial, type 2 11.0
4 pearson marrow-pancreas syndrome 11.0
5 combined oxidative phosphorylation deficiency 16 11.0
6 infantile liver failure syndrome 1 11.0
7 infantile liver failure syndrome 2 11.0
8 congenital generalized lipodystrophy 11.0
9 fatty liver disease, nonalcoholic 1 11.0
10 non-alcoholic steatohepatitis 10.7
11 hepatitis c 10.6
12 lipid metabolism disorder 10.5
13 hepatitis c virus 10.5
14 body mass index quantitative trait locus 11 10.5
15 body mass index quantitative trait locus 9 10.5
16 body mass index quantitative trait locus 8 10.5
17 body mass index quantitative trait locus 4 10.5
18 body mass index quantitative trait locus 10 10.5
19 body mass index quantitative trait locus 7 10.5
20 body mass index quantitative trait locus 12 10.5
21 body mass index quantitative trait locus 14 10.5
22 body mass index quantitative trait locus 18 10.5
23 body mass index quantitative trait locus 19 10.5
24 liver disease 10.5
25 hepatitis b 10.5
26 hepatitis 10.5
27 hypertriglyceridemia, familial 10.5
28 body mass index quantitative trait locus 1 10.4
29 hemosiderosis 10.4
30 rare hereditary hemochromatosis 10.4
31 viral hepatitis 10.3
32 leptin deficiency or dysfunction 10.3
33 glucose intolerance 10.3
34 hyperglycemia 10.3
35 type 2 diabetes mellitus 10.3
36 hypercholesterolemia, familial, 1 10.3
37 rapidly involuting congenital hemangioma 10.2
38 non-alcoholic fatty liver disease 10.2
39 hyperinsulinism 10.2
40 liver cirrhosis 10.2
41 atherosclerosis susceptibility 10.1
42 hepatocellular carcinoma 10.1
43 inflammatory bowel disease 10.1
44 diabetes mellitus 10.1
45 48,xyyy 10.1
46 immune deficiency disease 10.1
47 cholestasis 10.1
48 alcohol use disorder 10.1
49 severe acute respiratory syndrome 10.1
50 ischemia 10.1

Graphical network of the top 20 diseases related to Visceral Steatosis, Congenital:



Diseases related to Visceral Steatosis, Congenital

Symptoms & Phenotypes for Visceral Steatosis, Congenital

Human phenotypes related to Visceral Steatosis, Congenital:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hypoglycemia 31 HP:0001943
2 hepatic steatosis 31 HP:0001397
3 jaundice 31 HP:0000952
4 hypocalcemia 31 HP:0002901
5 abnormal bleeding 31 HP:0001892
6 lethargy 31 HP:0001254
7 coma 31 HP:0001259
8 abnormality of the genitourinary system 31 HP:0000119
9 generalized hypotonia 31 HP:0001290
10 kernicterus 31 HP:0001343
11 renal steatosis 31 HP:0000799
12 myocardial steatosis 31 HP:0006693
13 seizure 31 HP:0001250
14 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neuro:
seizures
lethargy
coma
kernicterus
hypotonia

G I:
jaundice
hepatosteatosis

G U:
renal steatosis

Heme:
hemorrhagic disorder

Lab:
hypoglycemia
hypocalcemia
elevated tissue fatty acids and triglycerides

Misc:
neonatal death

Cardiac:
myocardial steatosis

Clinical features from OMIM®:

228100 (Updated 05-Mar-2021)

Drugs & Therapeutics for Visceral Steatosis, Congenital

Drugs for Visceral Steatosis, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Phase 4 88150-42-9 2162
2
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
3
Simvastatin Approved Phase 4 79902-63-9 54454
4
Losartan Approved Phase 4 114798-26-4 3961
5
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
7 Hypolipidemic Agents Phase 4
8 Antimetabolites Phase 4
9 Lipid Regulating Agents Phase 4
10 Anticholesteremic Agents Phase 4
11 Hormones Phase 4
12 Anti-Arrhythmia Agents Phase 4
13 Angiotensinogen Phase 4
14 Antihypertensive Agents Phase 4
15 Giapreza Phase 4
16 Angiotensin II Type 1 Receptor Blockers Phase 4
17 Calcium, Dietary Phase 4
18 Angiotensin Receptor Antagonists Phase 4
19 calcium channel blockers Phase 4
20 Vasodilator Agents Phase 4
21 Cytochrome P-450 Enzyme Inhibitors Phase 4
22 Anti-HIV Agents Phase 4
23 Raltegravir Potassium Phase 4
24 Anti-Infective Agents Phase 4
25 Reverse Transcriptase Inhibitors Phase 4
26 Antiviral Agents Phase 4
27 HIV Integrase Inhibitors Phase 4
28 Anti-Retroviral Agents Phase 4
29 Integrase Inhibitors Phase 4
30
Calcium Nutraceutical Phase 4 7440-70-2 271
31
Metformin Approved 657-24-9 14219 4091
32 Omega 3 Fatty Acid
33 Antioxidants
34 Complement C3
35 carnitine
36 Insulin, Globin Zinc
37 insulin
38 Liver Extracts
39
Arginine Investigational, Nutraceutical 74-79-3 6322

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 Ultrasonographic Modification of Liver Steatosis and Visceral Fat Induced by Treatment With Losartan and Simvastatin in Hypertensive Normocholesterolemic Obese Patients Unknown status NCT00669435 Phase 4 Losartan + Simvastatin;Amlodipine + Simvastatin
2 Changes in Liver Steatosis After Switching From Efavirenz to Raltegravir Among HIV/HCV-Coinfected Patients Receiving Two Nucleoside Analogs Plus Efavirenz: The Steral Study Completed NCT01900015 Phase 4 Raltegravir;Efavirenz
3 Non-invasive Assessment of Liver Steatosis and Stiffness in HIV-infected Patients With Controlled Attenuation Parameter and Transient Elastography Unknown status NCT03599882
4 Clinical Application of Non-invasive Assessment for Staging Liver Steatosis and Liver Fibrosis Unknown status NCT03386890
5 Fibroscan® Medical Device, Assessment for Non Invasive Diagnosis of Liver Steatosis Unknown status NCT02575625
6 Hepaxa Management of Non-Alcoholic Fatty Liver Disease (NAFLD): A Real-world Pilot Study Observing Effects of Nutritional Management With Hepaxa in Subjects With Liver Steatosis Unknown status NCT03801577
7 Growth Hormone Replacement in Adults With Growth Hormone Deficiency (GHD) - The Effect on Liver Fat. Completed NCT00774579
8 Multi Center Survey on Spine and Hip Status in Chinese Population Using Quantitative Computed Tomography (QCT) Completed NCT01758770
9 Usefulness of Controlled Attenuation Parameter (CAP) for the Assessment of Liver Steatosis in Liver Donors Completed NCT02798861
10 Hepatitis C Infection With Liver Steatosis Compared to Hepatitis C Infection Without Liver Steatosis: Is There a Difference in Lipid Peroxidation and Indicators of Inflammation? Completed NCT00444002
11 Effects of Fructose Restriction on Liver Steatosis Completed NCT03067428
12 Coronary Artery Disease and Its Association With Liver Steatosis Among HIV-Infected Persons Completed NCT00889577
13 The Influence of Apolipoprotein C3 Variants on Liver Steatosis and Serum Liver Enzyme Values in Obese Children Completed NCT01682655
14 Effect of Low-glycemic Index Lunches and Dinners Intake on Indicators of Satiety, Metabolic Parameters and Liver Steatosis Degree on Women With Type 2 Diabetes Under Metformin Therapy: Controlled Clinical Trial Completed NCT03165877
15 Influence of Bariatric Endoscopy on Clinical Course of NAFLD Recruiting NCT04669470
16 Non-invasive Evaluation of Portal Hypertension in Patients With Compensated Advanced Chronic Liver Disease by Assessment of Spleen Stiffness Using Vibration Controlled Transient Elastography Recruiting NCT03778411
17 Screening With FibroTouch for Advanced Liver Fibrosis in NAFLD Patients With Underlying Type 2 Diabetes:A Registry and Diagnostic Cohort Study Recruiting NCT03525769
18 Non-Invasive Evaluation of Liver Steatosis, Inflammation and Fibrosis Recruiting NCT02754037
19 The Prevalence of Liver Steatosis, Steatohepatitis, Fibrosis, and Hemosiderosis in Overweight and Obese US Military Dependent Pediatric Patients Using MR Elastography and Quantitative MRI Recruiting NCT04284371
20 Study for the Identification of Participants With Liver Steatosis Who Carry Genetic Variants Associated With Nonalcoholic Fatty Liver Disease (NAFLD) Recruiting NCT04494360
21 Effect of Carnitine Supplementation on Liver Steatosis, Insulin Sensitivity, Plasma Glucose Homeostasis, Skeletal Muscle Metabolism and Energetics: a Pilot Study Active, not recruiting NCT03439917
22 The Liver in the World Trade Center Health Program General Responder Cohort and Controls Enrolling by invitation NCT03858920
23 Effects of Nutritional Supplementation With Amino Acids on Liver Lipid Content, Whole-body Protein Turnover, and Body Composition in Obese Pre-pubertal Children Not yet recruiting NCT02337894
24 Impact of the Hepatitis C Virus Variability on Liver Steatosis Terminated NCT00843076
25 Assessment of Endothelial Function in Patients With Non Alcoholic Fatty Liver Disease and the Impact of Statin Treatment Withdrawn NCT01987310 atorvastatin

Search NIH Clinical Center for Visceral Steatosis, Congenital

Genetic Tests for Visceral Steatosis, Congenital

Anatomical Context for Visceral Steatosis, Congenital

MalaCards organs/tissues related to Visceral Steatosis, Congenital:

40
Liver, Spleen, Skeletal Muscle, Endothelial, Kidney

Publications for Visceral Steatosis, Congenital

Articles related to Visceral Steatosis, Congenital:

(show all 36)
# Title Authors PMID Year
1
"WHITE LIVER" DISEASE. 57 61
14206017 1964
2
Neonatal hepatic steatosis by disruption of the adenosine kinase gene. 57
11997462 2002
3
Nonketotic C6-C10-dicarboxylic aciduria presenting as familial hepatic steatosis. 57
6476011 1984
4
A three-month-old infant with seizures, hypoglycemia, and apnea. 57
6650573 1983
5
Fatal familial steatosis of myocardium, liver and kidneys in three siblings. 57
7234407 1981
6
Familial disease characterized by neonatal jaundice, and probable hepatosteatosis and kernicterus: a new syndrome? 57
4695852 1973
7
Fatal familial steatosis of the liver and kidney in two siblings. 57
5567005 1971
8
Fatal neonatal heptic steatosis: a new familial disorder. 57
5790404 1969
9
Familial metabolic disorder with fatty metamorphosis of the viscera. 57
5953838 1966
10
ENCEPHALOPATHY AND FATTY DEGENERATION OF THE VISCERA. A DISEASE ENTITY IN CHILDHOOD. 57
14055046 1963
11
Keratin variants predispose to acute liver failure and adverse outcome: race and ethnic associations. 61
20538000 2010
12
Hepatic encephalopathy associated with cobalt deficiency and white liver disease in lambs. 61
11808665 2001
13
Hepatic lipidosis associated with cobalt deficiency in Omani goats. 61
10461798 1999
14
[Occurrence of white liver dis in lambs in Switzerland]. 61
9626744 1998
15
Histopathologic and ultrastructural alterations of white liver disease in sheep experimentally depleted of cobalt. 61
9396138 1997
16
An outbreak of ovine white liver disease in south west England. 61
8903021 1996
17
Cobalt-vitamin B12 deficiency causes lipid accumulation, lipid peroxidation and decreased alpha-tocopherol concentrations in the liver of sheep. 61
7883464 1994
18
Cobalt deficiency in pastured sheep in the south-western Cape Province. 61
1941894 1991
19
[Cobalt deficiency and photosensitivity in a flock of Texel lambs]. 61
2219077 1990
20
Ovine white-liver disease (OWLD) in Norway: clinical symptoms and preventive measures. 61
2399872 1990
21
Ovine white-liver disease (OWLD). Serum copper and effects of copper and selenium supplementation. 61
2080773 1990
22
Ovine white-liver disease (OWLD). Treatment trials. 61
2080781 1990
23
The possible significance of fructan in pasture grass for the development of ovine white-liver disease (OWLD). 61
2080782 1990
24
Ovine white-liver disease (OWLD). Botanical and chemical composition of pasture grass. 61
2080770 1990
25
Ovine white-liver disease (OWLD). Pathology. 61
2080775 1990
26
Ovine white-liver disease (OWLD). Trace elements in liver. 61
2080774 1990
27
Ovine white-liver disease (OWLD). Vitamin B12 and methyl malonic acid (MMA) estimations in blood. 61
2080771 1990
28
Ovine white-liver disease (OWLD). Changes in blood chemistry. 61
2080772 1990
29
White liver disease in goats. 61
16031425 1988
30
Liver lesions resembling ovine white liver disease in cobalt deficient lambs. 61
6495593 1984
31
Ovine white liver disease. 61
6639520 1983
32
White liver disease of sheep. 61
7138431 1982
33
White liver disease in lambs. 61
7340780 1981
34
Ovine white liver disease--an hepatic dysfunction associated with vitamin B12 deficiency. 61
294529 1979
35
A condition resembling ovine white liver disease in lambs on irrigated pasture in South Canterbury. 61
284244 1978
36
"WHITE LIVER" DISEASE. 61
14317663 1965

Variations for Visceral Steatosis, Congenital

ClinVar genetic disease variations for Visceral Steatosis, Congenital:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) SNV Pathogenic 523435 rs1014959895 16:68363008-68363008 16:68329105-68329105
2 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) SNV Pathogenic 523434 rs1251713297 16:68389688-68389688 16:68355785-68355785
3 MT-TL1 NC_012920.1:m.3275C>T SNV Uncertain significance 370045 rs1057516057 MT:3275-3275 MT:3275-3275
4 OPA1 NM_001354663.2(OPA1):c.-260_-243del Deletion Uncertain significance 214916 rs863224140 3:193332587-193332604 3:193614798-193614815

Expression for Visceral Steatosis, Congenital

Search GEO for disease gene expression data for Visceral Steatosis, Congenital.

Pathways for Visceral Steatosis, Congenital

GO Terms for Visceral Steatosis, Congenital

Sources for Visceral Steatosis, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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