Hepatomegaly, and Atherosclerosis

Diseases related with Hepatomegaly and Atherosclerosis

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

Top matches:

Medium 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

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

Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea

Related symptoms:

  • Short stature
  • Growth delay
  • Pain
  • Hepatomegaly
  • Splenomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NIEMANN-PICK DISEASE TYPE B

Other less relevant matches:

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

Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption.

CHOLESTERYL ESTER STORAGE DISEASE Is also known as cholesterol ester storage disease

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Jaundice
  • Pruritus


SOURCES: ORPHANET MENDELIAN

More info about CHOLESTERYL ESTER STORAGE DISEASE

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene (OMIM ), referred to as type C1 (OMIM ); 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2. The clinical manifestations of types C1 (OMIM ) and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C2; NPC2

Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.

NIEMANN-PICK DISEASE TYPE A Is also known as sphingomyelinase deficiency|sphingomyelin lipidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE TYPE A

This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutations

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).

MULTIPLE SYMMETRIC LIPOMATOSIS Is also known as launois-bensaude lipomatosis|familial benign cervical lipomatosis|madelung disease|cephalothoracic lipodystrophy|lipomatosis, familial benign cervical|lipodystrophy, cephalothoracic

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYMMETRIC LIPOMATOSIS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Atherosclerosis

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Hypertriglyceridemia Common - Between 50% and 80% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Cirrhosis Uncommon - Between 30% and 50% cases
Bone-marrow foam cells Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Atherosclerosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Coronary artery atherosclerosis Hypertension Xanthomatosis Jaundice Short stature Hypercholesterolemia Generalized hypotonia Insulin resistance Diabetes mellitus Hepatic steatosis Hepatic failure Sea-blue histiocytosis Decreased HDL cholesterol concentration Myocardial infarction Hyperlipoproteinemia

Rare Symptoms - Less than 30% cases

Intellectual disability Muscular hypotonia Adrenal calcification Loss of subcutaneous adipose tissue in limbs Anemia Loss of gluteal subcutaneous adipose tissue Abnormality of the liver Spasticity Interstitial pulmonary abnormality Diffuse reticular or finely nodular infiltrations Abnormal lung morphology Failure to thrive Pain Neurodegeneration Vomiting Foam cells with lamellar inclusion bodies Recurrent respiratory infections Osteoporosis Global developmental delay Abnormality of the musculature Diarrhea Pancreatitis Prolonged neonatal jaundice Lymphadenopathy Athetosis Oral-pharyngeal dysphagia Oligomenorrhea Increased LDL cholesterol concentration Protuberant abdomen Epidermal acanthosis Hyperlipidemia Acanthosis nigricans Polycystic ovaries Lipodystrophy Hyperinsulinemia Hyperglycemia Esophageal varix Lipoatrophy Insulin-resistant diabetes mellitus Prominent superficial veins Infertility Amenorrhea Primary amenorrhea Hirsutism Hypertrophic cardiomyopathy Thin skin Abnormality of the face Visual impairment Sleep disturbance Myalgia Hyporeflexia Cataplexy Fetal ascites Motor aphasia Foam cells in visceral organs and CNS Abnormal cholesterol homeostasis Low cholesterol esterification rates Muscle weakness Areflexia Constipation Congestive heart failure Rigidity Feeding difficulties in infancy Irritability Respiratory tract infection Skeletal muscle hypertrophy Microcytic anemia Cherry red spot of the macula Myopathy Generalized hirsutism Neoplasm Reduced subcutaneous adipose tissue Axonal degeneration Polyneuropathy Muscle cramps Abnormality of the skin Hoarse voice Reduced tendon reflexes Ragged-red muscle fibers Abnormality of mitochondrial metabolism Multiple lipomas Paresthesia Arthropathy Macrocytic anemia Lipoma Gout Alcoholism Decreased LDL cholesterol concentration Neuropathic arthropathy Increased HDL cholesterol concentration Tachycardia Joint stiffness Aplasia/Hypoplasia of the skin Eclampsia Secondary amenorrhea Hyperuricemia Maternal diabetes Preeclampsia Abnormality of the neck Calf muscle pseudohypertrophy Dysmenorrhea Loss of facial adipose tissue Prominent veins on trunk Arthralgia Abnormality of skeletal muscle fiber size Marked muscular hypertrophy Perseveration Peripheral neuropathy Gait disturbance Babinski sign Pes cavus Hypothyroidism Vertical supranuclear gaze palsy Periportal fibrosis Visceromegaly Back pain Increased subcutaneous truncal adipose tissue Growth delay Thrombocytopenia Pneumonia Dyspnea Decreased liver function Abnormal heart valve morphology Eruptive xanthomas Histiocytosis Abnormal macular morphology Fever Hernia Weight loss Umbilical hernia Developmental regression Increased facial adipose tissue Increased adipose tissue around the neck Malabsorption Increased VLDL cholesterol concentration Visual loss Abnormality of the eye Corneal opacity Opacification of the corneal stroma Angina pectoris Precocious atherosclerosis Obesity Premature coronary artery atherosclerosis Abnormality of the cardiovascular system Glucose intolerance Truncal obesity Ketoacidosis Abdominal obesity Acute pancreatitis Absence of subcutaneous fat Scarring Ascites Supranuclear gaze palsy Paralysis Dysphagia Respiratory insufficiency Dystonia Dementia Respiratory failure Mental deterioration Dyskinesia Ataxia Bradykinesia Psychosis Progressive neurologic deterioration Stereotypy Aphasia Neurofibrillary tangles Loss of speech Dysarthria Seizures Abdominal distention Malnutrition Pulmonary arterial hypertension Hepatic fibrosis Leukodystrophy Increased body weight Cachexia Portal hypertension Steatorrhea Arteriosclerosis Abnormality of lipid metabolism Acute hepatic failure Foam cells Vacuolated lymphocytes Low-grade fever Pruritus Nausea and vomiting Abnormal adipose tissue morphology


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