Abnormality of the skeletal system, and Hypertriglyceridemia

Diseases related with Abnormality of the skeletal system and Hypertriglyceridemia

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Hypertriglyceridemia that can help you solving undiagnosed cases.


Top matches:

Low match HYPERLIPIDEMIA, COMBINED, 1


HYPERLIPIDEMIA, COMBINED, 1 Is also known as hyplip1|hyperlipidemia, familial combined, 1|fchl1

Related symptoms:

  • Hyperlipidemia
  • Abnormality of lipid metabolism


SOURCES: MESH OMIM MENDELIAN

More info about HYPERLIPIDEMIA, COMBINED, 1

Low match TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS


Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.

TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS Is also known as transient infantile hypertriglyceridemia and fatty liver

Related symptoms:

  • Short stature
  • Failure to thrive
  • Hepatomegaly
  • Vomiting
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS

Low match HYPERLIPIDEMIA DUE TO HEPATIC TRIACYLGLYCEROL LIPASE DEFICIENCY


Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia disorder characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.

HYPERLIPIDEMIA DUE TO HEPATIC TRIACYLGLYCEROL LIPASE DEFICIENCY Is also known as lipc deficiency|hyperlipidemia due to hepatic lipase deficiency|hyperlipidemia due to htgl deficiency|hyperlipidemia due to hl deficiency|hyperlipidemia due to hepatic triglyceride lipase deficiency|hl deficiency

Related symptoms:

  • Hypertriglyceridemia
  • Atherosclerosis
  • Angina pectoris
  • Premature coronary artery atherosclerosis
  • Eruptive xanthomas


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPERLIPIDEMIA DUE TO HEPATIC TRIACYLGLYCEROL LIPASE DEFICIENCY

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Other less relevant matches:

Low match GLYCOGEN STORAGE DISEASE VI; GSD6


GLYCOGEN STORAGE DISEASE VI; GSD6 Is also known as phosphorylase deficiency glycogen-storage disease of liver|hers disease|gsd vi

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE VI; GSD6

Low match HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH


Autosomal recessive hypercholesterolemia is a rare monogenic disease characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease (summary by Sanchez-Hernandez et al., 2018).

HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH Is also known as fhcb2, formerly|arh2, formerly|fhcb1, formerly|hypercholesterolemia, autosomal recessive, 1, formerly|arh1, formerly|hypercholesterolemia, autosomal recessive, 2, formerly

Related symptoms:

  • Pain
  • Arthralgia
  • Abnormality of the cardiovascular system
  • Hypertriglyceridemia
  • Aortic valve stenosis


SOURCES: MESH OMIM MENDELIAN

More info about HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH

Low match GLYCOGEN STORAGE DISEASE IXA1; GSD9A1


Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB ), gamma (PHKG2 ), and delta (CALM1 ). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9A, GSD9B (OMIM ), and GSD9C (OMIM ), respectively. GSD IXa is an X-linked recessive disorder, whereas the others are autosomal recessive.GSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes (Keating et al., 1985; Hendrickx et al., 1994; Beauchamp et al., 2007).See also X-linked muscle PHK deficiency (GSD9D ), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1 ).

GLYCOGEN STORAGE DISEASE IXA1; GSD9A1 Is also known as glycogen storage disease viii, formerly|gsd8, formerly|gsd viii, formerly|liver glycogenosis, x-linked, type i|xlg1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXA1; GSD9A1

Low match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5


Related symptoms:

  • Hepatosplenomegaly
  • Hypertriglyceridemia
  • Episodic fever
  • Increased serum ferritin
  • Hemophagocytosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5

Low match HYPERCHOLESTEROLEMIA DUE TO CHOLESTEROL 7ALPHA-HYDROXYLASE DEFICIENCY


Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency is a rare, genetic, sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertrigliceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.

Related symptoms:

  • Obesity
  • Hepatic steatosis
  • Hepatitis
  • Hypertriglyceridemia
  • Cholestasis


SOURCES: ORPHANET MENDELIAN

More info about HYPERCHOLESTEROLEMIA DUE TO CHOLESTEROL 7ALPHA-HYDROXYLASE DEFICIENCY

Low match OBESITY DUE TO MELANOCORTIN 4 RECEPTOR DEFICIENCY


Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.

OBESITY DUE TO MELANOCORTIN 4 RECEPTOR DEFICIENCY Is also known as mc4r deficiency

Related symptoms:

  • Hypertension
  • Obesity
  • Type II diabetes mellitus
  • Hypertriglyceridemia
  • Acanthosis nigricans


SOURCES: ORPHANET MENDELIAN

More info about OBESITY DUE TO MELANOCORTIN 4 RECEPTOR DEFICIENCY

Low match LIPASE DEFICIENCY, COMBINED


A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.

LIPASE DEFICIENCY, COMBINED Is also known as lpl and htgl deficiency|lpl and hl deficiency|lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Obesity
  • Type II diabetes mellitus
  • Hypertriglyceridemia
  • Pancreatitis


SOURCES: MESH OMIM MENDELIAN

More info about LIPASE DEFICIENCY, COMBINED

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Hypertriglyceridemia

Symptoms // Phenotype % cases
Hyperlipidemia Uncommon - Between 30% and 50% cases
Hypercholesterolemia Uncommon - Between 30% and 50% cases
Atherosclerosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Hypertriglyceridemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Obesity

Rare Symptoms - Less than 30% cases


Ketosis Hypoglycemia Type II diabetes mellitus Growth delay Global developmental delay Intellectual disability Abnormality of the cardiovascular system Pancreatitis Hepatic steatosis Elevated hepatic transaminase Aortic atherosclerosis Hyperlipoproteinemia Hepatitis Cholestasis Coronary artery atherosclerosis Increased LDL cholesterol concentration Macrovesicular hepatic steatosis Accelerated atherosclerosis Acute hepatic steatosis Cholesterol gallstones Overweight Abnormality of vitamin E metabolism Abnormality of vitamin A metabolism Childhood-onset truncal obesity Hypertension Lipodystrophy Abnormality of metabolism/homeostasis Hemophagocytosis Acanthosis nigricans Hyperinsulinemia Polyphagia Increased adipose tissue Abnormal natural killer cell physiology Increased VLDL cholesterol concentration Increased serum ferritin Increased hepatic glycogen content Vomiting Splenomegaly Abnormality of the liver Hepatic fibrosis Increased body weight Angina pectoris Premature coronary artery atherosclerosis Eruptive xanthomas Increased HDL cholesterol concentration Fatigue Postnatal growth retardation Pain Episodic fever Arthralgia Aortic valve stenosis Xanthomatosis Precocious atherosclerosis Abnormality of lipid metabolism Tendon xanthomatosis Supravalvular aortic stenosis Motor delay Decreased liver function Hyperuricemia Hepatosplenomegaly Acute pancreatitis



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