MCID: VSC053
MIFTS: 24

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 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:
Mortality/Aging 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. 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

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 Top Affiliating Genes
1 visceral steatosis 11.7
2 fatty liver disease 11.3
3 liver disease 9.8
4 congenital disorder of glycosylation, type in 9.8
5 vitamin b12 deficiency 9.7
6 hepatic coma 9.7
7 hepatic encephalopathy 9.7
8 encephalopathy 9.7

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:

33 (show all 14)
# Description HPO Frequency 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

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 Liver Extracts ,Not Applicable
5 Hormones

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

Genetic Tests for Visceral Steatosis, Congenital

Anatomical Context for Visceral Steatosis, Congenital

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 )
2001
2
Ovine white liver disease--an hepatic dysfunction associated with vitamin B12 deficiency. ( 294529 )
1979

Variations for Visceral Steatosis, Congenital

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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