Hypertriglyceridemia, Transient Infantile; Htgti

Description

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 of hepatic fibrosis. The long-term outcome of affected individuals is unclear (summary by Basel-Vanagaite et al., 2012).

Clinical Features

Top most frequent phenotypes and symptoms related to Hypertriglyceridemia, Transient Infantile; Htgti

  • Short stature
  • Failure to thrive
  • Hepatomegaly
  • Splenomegaly
  • Vomiting
  • Elevated hepatic transaminase
  • Ranula
  • Abnormality of the liver
  • Hepatic steatosis
  • Hypertriglyceridemia
And another 7 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Hypertriglyceridemia, Transient Infantile; Htgti Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
GPD1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

GPD1
Specificity
100 %
Genes
100 %
Hypertriglyceridemia, transient infantile (sequence analysis of GPD1 gene).

By CGC Genetics in Portugal.

GPD1
Specificity
100 %
Genes
100 %
Hypertriglyceridemia, transient infantile.

By Centogene AG - the Rare Disease Company in Germany.

GPD1
Specificity
100 %
Genes
100 %
Hypertriglyceridemia.

By Asper Biogene Asper Biogene LLC in Estonia.

GPD1, APOA5, LPL, LMF1, APOC2, GPIHBP1
Specificity
17 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

HNF1A, NEUROD1, PPARG, HNF1B, CPT2, WFS1, PCDH15, GCK, GPD1, CAVIN1, PNPLA2, MEF2A, COQ2, PYGM, LDLR, LEP, LIPA, MTTP, LMNA, APOE , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Primary familial hypertriglyceridemias.

By Health in Code in Spain.

PCDH15, GPD1, PNPLA2, APOE, APOA5, LPL, LMF1, APOC2, GPIHBP1, APOC3, SLC25A40, TRIB1
Specificity
9 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
GPD1.

By Fulgent Genetics Fulgent Genetics in United States.

GPD1
Specificity
100 %
Genes
100 %

Alternate names

Hypertriglyceridemia, Transient Infantile; Htgti Is also known as ;transient infantile hypertriglyceridemia and fatty liver.



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