Abnormality of the skeletal system, and Atherosclerosis

Diseases related with Abnormality of the skeletal system and Atherosclerosis

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


Top matches:

Low match BLADDER CANCER


The bladder is a hollow organ in your lower abdomen that stores urine. Bladder cancer occurs in the lining of the bladder. It is the sixth most common type of cancer in the United States. Symptoms include Blood in your urine A frequent urge to urinate Pain when you urinate Low back pain Risk factors for developing bladder cancer include smoking and exposure to certain chemicals in the workplace. People with a family history of bladder cancer or who are older, white, or male have a higher risk. Treatments for bladder cancer include surgery, radiation therapy, chemotherapy, and biologic therapy. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Atherosclerosis
  • Bladder neoplasm
  • Transitional cell carcinoma of the bladder


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLADDER CANCER

Low match CHOLESTEROL-ESTER TRANSFER PROTEIN DEFICIENCY


CHOLESTEROL-ESTER TRANSFER PROTEIN DEFICIENCY Is also known as cept deficiency|familial hyperalphalipoproteinemia

Related symptoms:

  • Hyperlipidemia
  • Hypercholesterolemia
  • Precocious atherosclerosis
  • Hyperlipoproteinemia
  • Tendon xanthomatosis


SOURCES: ORPHANET MENDELIAN

More info about CHOLESTEROL-ESTER TRANSFER PROTEIN DEFICIENCY

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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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 HYPERALPHALIPOPROTEINEMIA 1; HALP1


HYPERALPHALIPOPROTEINEMIA 1; HALP1 Is also known as cholesterol ester transfer protein deficiency|cetp deficiency

Related symptoms:

  • Hypertension
  • Stroke
  • Abnormality of the cardiovascular system
  • Atherosclerosis
  • Xanthomatosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERALPHALIPOPROTEINEMIA 1; HALP1

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 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B


Patients with IGHD type IB are characterized by low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to GH therapy.See entry {262400} for a summary of the different types of IGHD.

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B Is also known as dwarfism of sindh|ighd ib

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Obesity
  • Delayed skeletal maturation


SOURCES: MESH OMIM MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B

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

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 CONGENITAL LACTASE DEFICIENCY


Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.

CONGENITAL LACTASE DEFICIENCY Is also known as disaccharide intolerance ii|alactasia, congenital

Related symptoms:

  • Diarrhea
  • Carious teeth
  • Metabolic acidosis
  • Dehydration
  • Atherosclerosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL LACTASE DEFICIENCY

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

Symptoms // Phenotype % cases
Hypercholesterolemia Uncommon - Between 30% and 50% cases
Increased HDL cholesterol concentration Uncommon - Between 30% and 50% cases
Hypertriglyceridemia Uncommon - Between 30% and 50% cases
Abnormality of the cardiovascular system Uncommon - Between 30% and 50% cases
Precocious atherosclerosis Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Xanthomatosis Increased LDL cholesterol concentration Coronary artery atherosclerosis Increased VLDL cholesterol concentration Obesity Tendon xanthomatosis Hyperlipoproteinemia Hyperlipidemia Hepatitis Confusion Abdominal obesity Xanthelasma Corneal arcus Proportionate short stature Truncal obesity Hepatic steatosis Neoplasm Cholestasis Macrovesicular hepatic steatosis Accelerated atherosclerosis Acute hepatic steatosis Growth hormone deficiency Aortic atherosclerosis Abnormality of vitamin E metabolism Abnormality of vitamin A metabolism Diarrhea Carious teeth Metabolic acidosis Dehydration Fructose intolerance Lactose intolerance Cholesterol gallstones Supravalvular aortic stenosis Severe short stature Disseminated intravascular coagulation Bladder neoplasm Transitional cell carcinoma of the bladder Bladder carcinoma Hypotriglyceridemia Angina pectoris Premature coronary artery atherosclerosis Eruptive xanthomas Venous thrombosis Thromboembolism Pulmonary embolism Deep venous thrombosis Recurrent deep vein thrombosis Delayed skeletal maturation Post-angioplasty coronary artery restenosis Hypertension Stroke Decreased HDL cholesterol concentration Pain Arthralgia Aortic valve stenosis Carcinoma Short stature Growth delay Frontal bossing Decreased small intestinal mucosa lactase activity



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Prostate cancer, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more