Transient infantile hypertriglyceridemia and hepatosteatosis(HTGTI)

MedGen UID:: 482583
•Concept ID:: C3280953
•: Disease or Syndrome

Synonym:	Hypertriglyceridemia, transient infantile
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	GPD1 (12q13.12)

Monarch Initiative:	MONDO:0013771
OMIM®:	614480
Orphanet:	ORPHA300293

Definition

Transient infantile hypertriglyceridemia (HTGTI) 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). [from OMIM]

Clinical features

From HPO

Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Failure to thrive

MedGen UID:: 746019
•Concept ID:: C2315100
•: Disease or Syndrome

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

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Hepatomegaly

MedGen UID:: 42428
•Concept ID:: C0019209
•: Finding

Abnormally increased size of the liver.

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Vomiting

MedGen UID:: 12124
•Concept ID:: C0042963
•: Sign or Symptom

Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.

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Hepatic fibrosis

MedGen UID:: 116093
•Concept ID:: C0239946
•: Disease or Syndrome

The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.

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Hepatic steatosis

MedGen UID:: 398225
•Concept ID:: C2711227
•: Disease or Syndrome

Steatosis is a term used to denote lipid accumulation within hepatocytes.

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Splenomegaly

MedGen UID:: 52469
•Concept ID:: C0038002
•: Finding

Abnormal increased size of the spleen.

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Hypertriglyceridemia

MedGen UID:: 167238
•Concept ID:: C0813230
•: Finding

An abnormal increase in the level of triglycerides in the blood.

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Elevated circulating hepatic transaminase concentration

MedGen UID:: 338525
•Concept ID:: C1848701
•: Finding

Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.

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Elevated gamma-glutamyltransferase level

MedGen UID:: 1370086
•Concept ID:: C4476869
•: Finding

Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.

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