Hypertension, and Hypertriglyceridemia

Diseases related with Hypertension and Hypertriglyceridemia

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

Top matches:

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

PLATELET GLYCOPROTEIN IV DEFICIENCY Is also known as cd36 deficiency|bdplt10|bleeding disorder, platelet-type, 10

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Thrombocytopenia
  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy


SOURCES: OMIM MESH MENDELIAN

More info about PLATELET GLYCOPROTEIN IV DEFICIENCY

Related symptoms:

  • Hypertension
  • Osteoporosis
  • Diabetes mellitus
  • Stroke
  • Sudden cardiac death


SOURCES: OMIM MESH MENDELIAN

More info about CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OBESITY DUE TO CEP19 DEFICIENCY

Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011).

PLIN1-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as fpld4|plin1-related fpld|lipodystrophy, familial partial, associated with plin1 mutations

Related symptoms:

  • Hypertension
  • Diabetes mellitus
  • Infertility
  • Hepatic steatosis
  • Epidermal acanthosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLIN1-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.

FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE Is also known as fpld1|familial partial lipodystrophy type 1|lipodystrophy, familial partial, kobberling type

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Obesity
  • Diabetes mellitus
  • Hepatic steatosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE

Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

Related symptoms:

  • Short stature
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 10; SCKL10

Top 5 symptoms//phenotypes associated to Hypertension and Hypertriglyceridemia

Symptoms // Phenotype % cases
Diabetes mellitus Common - Between 50% and 80% cases
Hepatic steatosis Common - Between 50% and 80% cases
Insulin resistance Uncommon - Between 30% and 50% cases
Hypercholesterolemia Uncommon - Between 30% and 50% cases
Hyperlipidemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Hypertriglyceridemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Acanthosis nigricans Lipodystrophy Polycystic ovaries Type II diabetes mellitus Glucose intolerance Hyperinsulinemia Obesity Lipoatrophy Insulin-resistant diabetes mellitus

Rare Symptoms - Less than 30% cases

Loss of subcutaneous adipose tissue in limbs Atherosclerosis Infertility Loss of gluteal subcutaneous adipose tissue Congestive heart failure Intellectual disability Premature coronary artery atherosclerosis Epidermal acanthosis Hepatic fibrosis Nephropathy Hepatomegaly Myocardial infarction Decreased serum complement C3 Short stature Acute pancreatitis Cardiomyopathy Thrombocytopenia Seizures Anemia Purpura Fever Diarrhea Proteinuria Hematuria Abnormality of lipid metabolism Esophageal varix Vacuolated lymphocytes Low-grade fever Hyperlipoproteinemia Foam cells Acute hepatic failure Periportal fibrosis Cachexia Protuberant abdomen Cirrhosis Weight loss Umbilical hernia Jaundice Hepatosplenomegaly Developmental regression Scarring Malabsorption Hepatic failure Steatorrhea Ascites Abdominal distention Pulmonary arterial hypertension Leukodystrophy Increased body weight Adrenal calcification Portal hypertension Malnutrition Bone-marrow foam cells Glomerulonephritis Hearing impairment Aortic aneurysm Abnormal facial shape Dilatation Severe short stature Retinal detachment Ventricular hypertrophy Microretrognathia Metaphyseal widening Cone-shaped epiphysis Microcephaly Glycosuria Slender long bone Skin tags Elevated circulating follicle stimulating hormone level Elevated circulating luteinizing hormone level Abdominal aortic aneurysm Elevated serum aspartate aminotransferase Micrognathia Loss of subcutaneous adipose tissue from upper limbs Myopathy Hypertrichosis Immunodeficiency Recurrent infections Alopecia Arthralgia Autoimmunity Hirsutism Nephrotic syndrome Generalized hirsutism Progressive loss of facial adipose tissue Premature ovarian insufficiency Splenomegaly Glomerulopathy Microscopic hematuria Progeroid facial appearance Lymphocytosis Membranoproliferative glomerulonephritis Loss of truncal subcutaneous adipose tissue Hernia Reticulocytosis Vomiting Oligomenorrhea Oligospermia Decreased HDL cholesterol concentration Increased LDL cholesterol concentration Skeletal muscle hypertrophy Calf muscle hypertrophy Reduced subcutaneous adipose tissue Insulin-resistant diabetes mellitus at puberty Abnormality of the liver Abnormality of circulating hormone level Abnormality of the cardiovascular system Pancreatitis Hyperglycemia Coronary artery atherosclerosis Truncal obesity Azoospermia Gout Ketoacidosis Spontaneous abortion Polyphagia Increased adipose tissue Childhood-onset truncal obesity Hypertrophic cardiomyopathy Dilated cardiomyopathy Abnormal bleeding Prolonged bleeding time Sudden cardiac death Abnormality of the endocrine system Asymmetric septal hypertrophy Macrothrombocytopenia Giant platelets Osteoporosis Stroke Abnormality of the musculature Prominent superficial veins Failure to thrive Abnormal lactate dehydrogenase activity Hemolytic-uremic syndrome Complement deficiency Increased blood urea nitrogen Anuria Microangiopathic hemolytic anemia Azotemia Schistocytosis Elevated serum creatinine Decreased serum complement factor B Abnormality of complement system Decreased serum complement factor I Decreased serum complement factor H Decreased level of thrombomodulin Generalized hypotonia Enterocolitis Acute kidney injury Xanthomatosis Cognitive impairment Abdominal obesity Absence of subcutaneous fat Increased adipose tissue around the neck Eruptive xanthomas Increased facial adipose tissue Increased subcutaneous truncal adipose tissue Edema Abnormality of blood and blood-forming tissues Renal insufficiency Abnormality of metabolism/homeostasis Stage 5 chronic kidney disease Hemolytic anemia Coma Hemiparesis Dysphasia Elevated serum alanine aminotransferase


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