VISCERAL STEATOSIS, CONGENITAL

General Information (adopted from Orphanet):

Synonyms, Signs: STEATOSIS OF LIVER
FATTY METAMORPHOSIS OF VISCERA
WHITE LIVER DISEASE
FATTY LIVER DISEASE, CONGENITAL
Number of Symptoms 21
OrphanetNr:
OMIM Id: 228100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000119) Abnormality of the genitourinary system 34 / 7739
2
(HPO:0000799) Renal steatosis 6 / 7739
3
(HPO:0001250) Seizures 1245 / 7739
4
(HPO:0001343) Kernicterus 4 / 7739
5
(HPO:0001259) Coma 65 / 7739
6
(HPO:0001254) Lethargy 104 / 7739
7
(HPO:0000952) Jaundice 105 / 7739
8
(HPO:0001397) Hepatic steatosis 75 / 7739
9
(HPO:0006693) Myocardial steatosis 2 / 7739
10
(HPO:0001892) Abnormal bleeding 85 / 7739
11
(HPO:0001943) Hypoglycemia 131 / 7739
12
(HPO:0002901) Hypocalcemia 56 / 7739
13
(HPO:0001252) Muscular hypotonia 990 / 7739
14
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
15
(HPO:0001324) Muscle weakness 859 / 7739
16
(HPO:0010547) Muscle flaccidity 466 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
(OMIM) Elevated tissue fatty acids and triglycerides 1 / 7739
19
(OMIM) Hepatosteatosis 1 / 7739
20
(HPO:0003811) Neonatal death 44 / 7739
21
(OMIM) Hemorrhagic disorder 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Peremans et al. (1966) described a sibship of 14 children, offspring of first cousins once removed, among whom 5 children showed progressive muscular hypotonia, lethargy, coma, and death in the first days of life. A sixth child was ...