Abnormality of the skeletal system, and Coronary artery atherosclerosis

Diseases related with Abnormality of the skeletal system and Coronary artery atherosclerosis

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


Top matches:

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

Low match HEPARIN COFACTOR II DEFICIENCY


Heparin cofactor II (HCF2 ) rapidly inhibits thrombin in plasma in the presence of dermatan sulfate or heparin. Congenital HCF2 deficiency is associated with thromboembolism and is classified into type I (quantitative) or type II (qualitative) deficiency (Kondo et al., 1996).

HEPARIN COFACTOR II DEFICIENCY Is also known as thrombophilia due to heparin cofactor ii deficiency|thph10|hcf ii deficiency|hcf2 deficiency

Related symptoms:

  • Venous thrombosis
  • Thromboembolism
  • Pulmonary embolism
  • Deep venous thrombosis
  • Disseminated intravascular coagulation


SOURCES: OMIM MESH MENDELIAN

More info about HEPARIN COFACTOR II DEFICIENCY

Low match HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B


HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B Is also known as apolipoprotein b-100, familial ligand-defective|apolipoprotein b-100, familial defective|hypercholesterolemia, familial, due to ligand-defective apolipoprotein b

Related symptoms:

  • Confusion
  • Abnormality of the cardiovascular system
  • Hypercholesterolemia
  • Coronary artery atherosclerosis
  • Hyperlipoproteinemia


SOURCES: OMIM MENDELIAN

More info about HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B

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Other less relevant matches:

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 LONG QT SYNDROME 13; LQT13


Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999).For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (OMIM ).

Related symptoms:

  • Seizures
  • Hypertension
  • Congestive heart failure
  • Arrhythmia
  • Paralysis


SOURCES: OMIM MENDELIAN

More info about LONG QT SYNDROME 13; LQT13

Low match AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4


AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4 Is also known as faa4|aortic aneurysm/aortic dissection and patent ductus arteriosus

Related symptoms:

  • Congestive heart failure
  • Dilatation
  • Patent ductus arteriosus
  • Stroke
  • Aortic regurgitation


SOURCES: MESH OMIM MENDELIAN

More info about AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4

Low match FISH-EYE DISEASE


Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.

FISH-EYE DISEASE Is also known as dyslipoproteinemic corneal dystrophy|alpha-lcat deficiency|lcata deficiency|partial lcat deficiency|fed|alpha-lecithin:cholesterol acyltransferase deficiency

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Splenomegaly
  • Visual loss
  • Abnormality of the eye


SOURCES: OMIM ORPHANET MENDELIAN

More info about FISH-EYE DISEASE

Low match AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6


AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 Is also known as familial thoracic aortic aneurysm with livedo reticularis and iris flocculi

Related symptoms:

  • Hypertension
  • Dilatation
  • Patent ductus arteriosus
  • Coloboma
  • Myocardial infarction


SOURCES: OMIM MESH MENDELIAN

More info about AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6

Low match OBESITY DUE TO CEP19 DEFICIENCY


Related symptoms:

  • Intellectual disability
  • Hypertension
  • Congestive heart failure
  • Obesity
  • Diabetes mellitus


SOURCES: OMIM ORPHANET MENDELIAN

More info about OBESITY DUE TO CEP19 DEFICIENCY

Low match PAGET DISEASE OF BONE 6; PDB6


Paget disease of bone-6 is an autosomal dominant disorder characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. A subset of patients can develop coronary artery disease and/or malignant giant cell tumor (GCT) of the bone, which arises within the Paget bone lesions (summary by Divisato et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Paget disease of bone, see {167250}.

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Recurrent fractures


SOURCES: OMIM MENDELIAN

More info about PAGET DISEASE OF BONE 6; PDB6

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Coronary artery atherosclerosis

Symptoms // Phenotype % cases
Hypertriglyceridemia Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Increased LDL cholesterol concentration Uncommon - Between 30% and 50% cases
Myocardial infarction Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Premature coronary artery atherosclerosis Hypercholesterolemia

Rare Symptoms - Less than 30% cases


Ascending aortic dissection Thoracic aortic aneurysm Aortic dissection Aortic aneurysm Increased VLDL cholesterol concentration Patent ductus arteriosus Atherosclerosis Hepatic steatosis Decreased HDL cholesterol concentration Obesity Bicuspid aortic valve Dilatation Angina pectoris Pulmonary embolism Corneal arcus Lymphadenopathy Cutis marmorata Coloboma Precocious atherosclerosis Opacification of the corneal stroma Eruptive xanthomas Corneal opacity Moyamoya phenomenon Abnormality of the eye Visual loss Splenomegaly Hepatomegaly Visual impairment Aortic stiffness Ascending tubular aorta aneurysm Iris flocculi Cystic medial necrosis Neoplasm Nephrocalcinosis Bone pain Nephrolithiasis Left ventricular hypertrophy Osteoarthritis Recurrent fractures Pain Hearing impairment Intellectual disability Oligospermia Azoospermia Insulin resistance Type II diabetes mellitus Infertility Abnormality of the liver Diabetes mellitus Abnormal iris pigmentation Increased HDL cholesterol concentration Xanthelasma Aortic atherosclerosis Arrhythmia Post-angioplasty coronary artery restenosis Confusion Seizures Abnormality of vitamin A metabolism Abnormality of vitamin E metabolism Cholesterol gallstones Tachycardia Acute hepatic steatosis Accelerated atherosclerosis Macrovesicular hepatic steatosis Cholestasis Hepatitis Abnormality of the cardiovascular system Hyperlipoproteinemia Paralysis Postural instability Venous thrombosis Disseminated intravascular coagulation Left ventricular failure Thromboembolism Abnormality of the vasculature Deep venous thrombosis Aortic regurgitation Stroke Recurrent deep vein thrombosis Syncope Torsade de pointes Paroxysmal atrial fibrillation Prolonged QT interval Atrioventricular block Ventricular arrhythmia Cardiac arrest Atrial fibrillation Elevated alkaline phosphatase



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