Infantile regressive hypertriglyceridemia and hepatosteatosis

General Information (adopted from Orphanet):

Synonyms, Signs: HTGTI
Infantile regressive hypertriglyceridemia and fatty liver
Number of Symptoms 15
OrphanetNr: 300293
OMIM Id: 614480
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic parenchymatous liver disease
 -Rare genetic disease
Rare parenchymatous liver disease
 -Rare hepatic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001397) Hepatic steatosis 75 / 7739
2
 (HPO:0001395) Hepatic fibrosis 67 / 7739
3
 (HPO:0001744) Splenomegaly rare [HPO:skoehler] 337 / 7739
4
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
5
 (HPO:0002240) Hepatomegaly 467 / 7739
6
 (HPO:0004322) Short stature 1232 / 7739
7
 (HPO:0001510) Growth delay 295 / 7739
8
 (HPO:0002155) Hypertriglyceridemia 67 / 7739
9
 (HPO:0003124) Hypercholesterolemia 53 / 7739
10
 (OMIM) Increased urinary dicarboxylic acid, transient 1 / 7739
11
 (OMIM) Abnormal serum lipoprotein levels (in 3 of 10 patients) 1 / 7739
12
 (OMIM) Septal formation 1 / 7739
13
 (OMIM) Hypertriglyceridemia, transient 1 / 7739
14
 (HPO:0003593) Infantile onset 249 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Transient infantile hypertriglyceridemia is an autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development ...
Clinical Description OMIM Basel-Vanagaite et al. (2012) reported 10 patients from 4 consanguineous Israeli-Arab families with transient infantile hypertriglyceridemia and fatty liver. All presented with similar laboratory features between 1 and 9 months of age. Six were asymptomatic, 3 had vomiting, ...
Molecular genetics OMIM By homozygosity mapping followed by candidate gene analysis of 4 consanguineous families with transient infantile hypertriglyceridemia, Basel-Vanagaite et al. (2012) identified a homozygous splice site mutation in the GPD1 gene (138420.0001), predicted to result in a truncated protein ...