Leukemia, and Hypercholesterolemia

Diseases related with Leukemia and Hypercholesterolemia

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

Top matches:

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Abnormality of the skeletal system
  • Edema
  • Blindness


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 71; RP71

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

Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Fever
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3

Other less relevant matches:

GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).

Related symptoms:

  • Neoplasm
  • Fatigue
  • Edema
  • Osteoporosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL ANALBUMINEMIA

HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 Is also known as fh3

Related symptoms:

  • Hypercholesterolemia


SOURCES: OMIM MESH MENDELIAN

More info about HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3

LDLCQ7 is a quantitative trait affecting LDL levels that is effected through the NPC1L1 gene, which is responsible for the intestinal absorption of cholesterol. NPC1L1 is the molecular target for the drug ezetimibe, and variants in this gene affect response to this drug.

Related symptoms:

  • Hypercholesterolemia


SOURCES: OMIM MENDELIAN

More info about LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7; LDLCQ7

Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.

NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY Is also known as cholestasis, neonatal intrahepatic, caused by citrin deficiency|neonatal intrahepatic cholestasis caused by citrin deficiency|citrullinemia, type ii, neonatal-onset, with or without failure to thrive and dyslipidemia|niccd

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY

Familial dysalbuminemic hyperthyroxinemia is an autosomal dominant condition characterized by the presence of a variant serum albumin with preferential affinity for thyroxine (T4) in clinically euthyroid individuals. Individuals have consistently elevated total T4 and elevated or normal free T4 values with normal TSH levels. The condition may be confused with hyperthyroidism or thyroid hormone resistance syndromes, prompting repeated unnecessary laboratory testing and possibly even inappropriate treatment (summary by Heufelder et al., 1995).

HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH Is also known as fdh|euthyroid hyperthyroxinemia 1

Related symptoms:

  • Hypothyroidism
  • Hyperlipidemia
  • Hypercholesterolemia
  • Goiter
  • Hyperthyroidism


SOURCES: MESH OMIM MENDELIAN

More info about HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH

Top 5 symptoms//phenotypes associated to Leukemia and Hypercholesterolemia

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Hypertriglyceridemia Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Hyperlipidemia Uncommon - Between 30% and 50% cases
Lymphopenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Leukemia and Hypercholesterolemia. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Abnormality of lipid metabolism Hepatomegaly Fever Diarrhea Lipodystrophy Jaundice Hepatosplenomegaly Atherosclerosis Increased body weight Cirrhosis Recurrent infections Hepatic steatosis Pneumonia Hepatic fibrosis Small for gestational age Scarring Keratitis Elevated hepatic transaminase Growth delay Short stature Obesity Neoplasm Edema Hypoglycemia Respiratory distress Intrauterine growth retardation Short toe Short long bone Progressive visual loss Delayed skeletal maturation High pitched voice Truncal obesity External genital hypoplasia Prematurely aged appearance Reduced number of teeth Chronic diarrhea Hypohidrosis Deeply set eye Microdontia Delayed eruption of teeth Eczema Underdeveloped supraorbital ridges Delayed puberty Hypoplasia of penis Blue sclerae Growth hormone deficiency High forehead Depressed nasal ridge Prominent forehead Osteoarthritis Severe short stature Abnormal lung morphology Proportionate short stature Scoliosis Abnormality of the elbow Hypergalactosemia Decreased liver function Hyperbilirubinemia Prolonged neonatal jaundice Intrahepatic cholestasis Hypoproteinemia Decreased HDL cholesterol concentration Giant cell hepatitis Hepatitis Hypermethioninemia Elevated plasma citrulline Hypothyroidism Goiter Hyperthyroidism Graves disease Thyroid hormone receptor defect Cholestasis Hemolytic anemia Concave nasal ridge Osteoporosis Immune dysregulation Delayed menarche Aplasia/Hypoplasia involving the nose Hypoplastic nasal bridge Lymphoid interstitial pneumonia Fatigue Carcinoma Abnormality of the liver Motor delay Hypotension Hypoalbuminemia Hypercoagulability Asthenia Global developmental delay Abnormality of the nervous system Brachydactyly Calcinosis Cognitive impairment Hernia Protuberant abdomen Steatorrhea Malnutrition Portal hypertension Cachexia Leukodystrophy Pulmonary arterial hypertension Abdominal distention Ascites Hepatic failure Malabsorption Developmental regression Umbilical hernia Weight loss Splenomegaly Esophageal varix Recurrent pneumonia Abnormality of the skeletal system Blindness Rod-cone dystrophy Polydactyly Nyctalopia Optic disc pallor Pancreatitis Vomiting Attenuation of retinal blood vessels Drusen Epiretinal membrane Macular hole Generalized hypotonia Hypertension Acute hepatic failure Foam cells Abnormal facial shape Panniculitis Hypermelanotic macule Microcytic anemia Myositis Delayed speech and language development Bronchiolitis Hypochromic anemia Bronchiolitis obliterans Conjunctivitis Finger swelling Bronchiolitis obliterans organizing pneumonia Intellectual disability Seizures Hearing impairment Micrognathia Increased antibody level in blood Sinusitis Hyperlipoproteinemia Dysphagia Vacuolated lymphocytes Low-grade fever Periportal fibrosis Bone-marrow foam cells Adrenal calcification Flexion contracture Thrombocytopenia Inflammatory abnormality of the skin Arthralgia Arthritis Erythema Skin rash Lymphadenopathy Cerebral calcification Euthyroid hyperthyroxinemia


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