Visceral Steatosis, Congenital disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Visceral Steatosis, Congenital

MalaCards integrated aliases for Visceral Steatosis, Congenital:

Name: Visceral Steatosis, Congenital ⁵⁸

Fatty Metamorphosis of Viscera ⁵⁸ ⁷⁴

Fatty Liver Disease, Congenital ⁵⁸

White Liver Disease ⁵⁸

Steatosis of Liver ⁵⁸

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

visceral steatosis, congenital:
Clinical modifier neonatal death
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Liver diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 228100

MedGen ⁴³ C0341447

UMLS ⁷⁴ C0341447

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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. The drugs Nutrients and Olive have been mentioned in the context of this disorder. Related phenotypes are seizures and muscular hypotonia

Description from OMIM: 228100

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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:

#	Related Disease	Score
1	visceral steatosis	11.7
2	fatty liver disease	11.3
3	liver disease	9.8
4	vitamin b12 deficiency	9.7
5	hepatic coma	9.7
6	hepatic encephalopathy	9.7
7	encephalopathy	9.7

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

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Symptoms & Phenotypes for Visceral Steatosis, Congenital

Human phenotypes related to Visceral Steatosis, Congenital:

³³ (show all 14)

#	Description	HPO Source Accession
1	seizures ³³	HP:0001250
2	muscular hypotonia ³³	HP:0001252
3	hypoglycemia ³³	HP:0001943
4	abnormal bleeding ³³	HP:0001892
5	hepatic steatosis ³³	HP:0001397
6	jaundice ³³	HP:0000952
7	coma ³³	HP:0001259
8	hypocalcemia ³³	HP:0002901
9	lethargy ³³	HP:0001254
10	generalized hypotonia ³³	HP:0001290
11	abnormality of the genitourinary system ³³	HP:0000119
12	renal steatosis ³³	HP:0000799
13	myocardial steatosis ³³	HP:0006693
14	kernicterus ³³	HP:0001343

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neuro:
seizures
coma
lethargy
kernicterus
hypotonia

G I:
jaundice
hepatosteatosis

Cardiac:
myocardial steatosis

Heme:
hemorrhagic disorder

Lab:
hypoglycemia
hypocalcemia
elevated tissue fatty acids and triglycerides

G U:
renal steatosis

Misc:
neonatal death

Clinical features from OMIM:

228100

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Drugs & Therapeutics for Visceral Steatosis, Congenital

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

#	Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1	Nutrients		Not Applicable
2	Olive		Not Applicable
3	carnitine		Not Applicable
4	Hormones
5	Liver Extracts		,Not Applicable

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Response of NAFLD Patients to Mediterranean Diet	Completed	NCT03203486	Not Applicable
2	Effects of Parenteral L-carnitine Supplementation in Premature Neonates	Completed	NCT00841295	Not Applicable	Parenteral L-carnitine supplementation;Parenteral supplementation with sterile water
3	Liver Fibrosis in Peri-menopausal Women	Recruiting	NCT03602573
4	Study of Eating Patterns With a Smartphone App and the Effects of Time Restricted Feeding in the Metabolic Syndrome	Recruiting	NCT03241121	Not Applicable
5	The Liver in the World Trade Center Health Program General Responder Cohort and Controls	Enrolling by invitation	NCT03858920
6	Prediction of Donor Liver Adipose Content by Magnetic Resonance Imaging	Withdrawn	NCT02873507	Not Applicable

Search NIH Clinical Center for Visceral Steatosis, Congenital

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Genetic Tests for Visceral Steatosis, Congenital

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Anatomical Context for Visceral Steatosis, Congenital

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Publications for Visceral Steatosis, Congenital

Articles related to Visceral Steatosis, Congenital:

#	Title	Authors	Year
1	Hepatic encephalopathy associated with cobalt deficiency and white liver disease in lambs. ( 11808665 )	Sargison ND...Rhind SM	2001
2	Ovine white liver disease--an hepatic dysfunction associated with vitamin B12 deficiency. ( 294529 )	Sutherland RJ...Carthew GC	1979

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Genes for Visceral Steatosis, Congenital

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Variations for Visceral Steatosis, Congenital

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Expression for Visceral Steatosis, Congenital

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

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Pathways for Visceral Steatosis, Congenital

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GO Terms for Visceral Steatosis, Congenital

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Sources for Visceral Steatosis, Congenital

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²⁹ GO

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³⁴ ICD10

³⁵ ICD10 via Orphanet

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³⁷ IUPHAR

³⁸ KEGG

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⁷² TGDB

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia