Anemia, and Hypercholesterolemia

Diseases related with Anemia and Hypercholesterolemia

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


Top matches:

Medium match NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY


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

Medium match SITOSTEROLEMIA


Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

SITOSTEROLEMIA Is also known as stsl|phytosterolemia

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Splenomegaly
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SITOSTEROLEMIA

Medium match LYSOSOMAL ACID LIPASE DEFICIENCY


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

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Other less relevant matches:

Medium match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Medium match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3


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

Medium match HYPERLIPOPROTEINEMIA, TYPE I


HYPERLIPOPROTEINEMIA, TYPE I Is also known as lpl deficiency|hyperchylomicronemia, familial|lipase d deficiency|lipd deficiency|lipoprotein lipase deficiency|hyperlipemia, essential familial|chylomicronemia, familial|hyperlipemia, idiopathic, burger-grutz type|hyperlipoproteinemia, type ia

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Pain
  • Anemia
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE I

Low match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Low match CONGENITAL ANALBUMINEMIA


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

Low match HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3


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

Low match LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7; LDLCQ7


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

Top 5 symptoms//phenotypes associated to Anemia and Hypercholesterolemia

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Atherosclerosis Uncommon - Between 30% and 50% cases
Hypertriglyceridemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Arthritis Splenomegaly Hepatosplenomegaly Hepatic steatosis Hyperlipidemia Jaundice

Rare Symptoms - Less than 30% cases


Umbilical hernia Visual impairment Irritability Diarrhea Scarring Vomiting Malabsorption Generalized hypotonia Areflexia Depressivity Abdominal distention Global developmental delay Increased body weight Skin rash Delayed eruption of teeth Hip dislocation Intellectual disability, moderate Thrombocytopenia Constipation Elevated hepatic transaminase Motor delay Finger swelling Cognitive impairment Lipodystrophy Intellectual disability Hyperlipoproteinemia Foam cells Hypersplenism Steatorrhea Fever Hemolytic anemia Abdominal pain Pain Hyperbilirubinemia Abnormal bleeding Cirrhosis Small for gestational age Abnormality of the liver Arthralgia Hepatomegaly Hepatic fibrosis Abnormality of lipid metabolism Behavioral abnormality Increased serum lactate Blindness Aciduria Dehydration Full cheeks Recurrent fractures Abnormality of the ribs Metabolic acidosis Everted lower lip vermilion Abnormality of the dentition EEG abnormality Fine hair Sparse scalp hair Osteoarthritis Open mouth Abnormality of the metaphysis Respiratory insufficiency Ventriculomegaly Subcutaneous nodule Hypoplasia of dental enamel Dental crowding Nephrolithiasis Amblyopia Stereotypy Abnormality of epiphysis morphology Clonus Hematuria Long face Kyphosis Feeding difficulties in infancy Corneal opacity Acidosis Attention deficit hyperactivity disorder Camptodactyly of finger Joint stiffness Protruding ear Low-set, posteriorly rotated ears Mandibular prognathia Gastroesophageal reflux Aggressive behavior Proteinuria Anxiety Neonatal hypotonia Thin upper lip vermilion Joint contracture of the hand Reduced visual acuity Joint hypermobility Microphthalmia Deeply set eye Joint hyperflexibility Genu valgum Delayed puberty Long philtrum Renal insufficiency Carious teeth Platyspondyly Hyporeflexia Inguinal hernia Recurrent respiratory infections Upslanted palpebral fissure Congenital cataract Glaucoma Skin ulcer Diabetes insipidus Nephrocalcinosis Urogenital fistula Elevated serum acid phosphatase Abnormality of calcium-phosphate metabolism Chorioretinal dysplasia Oligosacchariduria Vitamin D deficiency Proximal renal tubular acidosis Renal Fanconi syndrome Periventricular cysts Keloids Cheilitis Abnormality of the renal tubule Lacrimation abnormality Abnormal pupil morphology Buphthalmos Hyperphosphaturia Benign neoplasm of the central nervous system Elevated amniotic fluid alpha-fetoprotein Generalized hypopigmentation Fatigue Hypercoagulability Hypoalbuminemia Hypotension Carcinoma Osteoporosis Edema Neoplasm Odontogenic neoplasm Dense posterior cortical cataract Hypoammonemia Wrist swelling Lentiglobus Abnormality of dentin Bicarbonaturia Elevated maternal serum alpha-fetoprotein Atelectasis Renal tubular dysfunction Narrow palate Abnormality of the voice Obsessive-compulsive behavior Hyponatremia Chronic otitis media Self-injurious behavior Glomerulonephritis Rickets Hypokalemia Feeding difficulties Hypercalciuria Deep philtrum Reduced number of teeth Neoplasm of the skin Azoospermia Abnormality of dental enamel Aminoaciduria Flat occiput Open bite Taurodontia Joint swelling Periodontitis Hyperaldosteronism Gingivitis Atypical scarring of skin Patellar dislocation Multiple renal cysts Renal tubular acidosis Hypophosphatemia Osteomalacia Glomerulopathy Abnormal joint morphology Hyperparathyroidism Pathologic fracture Congenital glaucoma Dysphasia Frontal bossing Back pain Cryptorchidism Adrenal calcification Hepatic failure Ascites Pulmonary arterial hypertension Leukodystrophy Cachexia Portal hypertension Malnutrition Protuberant abdomen Acute hepatic failure Esophageal varix Vacuolated lymphocytes Low-grade fever Periportal fibrosis Bone-marrow foam cells Hypertelorism Weight loss Elevated serum creatine phosphokinase Macroglossia Flat face Dry skin Joint laxity Skeletal dysplasia Hypothyroidism Delayed skeletal maturation Abnormal facial shape Dilatation Cardiomyopathy Anteverted nares Talipes equinovarus Macrocephaly Depressed nasal bridge Developmental regression Hernia Broad-based gait Hypoproteinemia Paraplegia Elevated plasma citrulline Hypermethioninemia Giant cell hepatitis Hypergalactosemia Decreased HDL cholesterol concentration Intrahepatic cholestasis Coronary artery atherosclerosis Prolonged neonatal jaundice Decreased liver function Cholestasis Hepatitis Abnormality of the nervous system Hypoglycemia Abnormality of the cardiovascular system Reticulocytosis Hypertension Premature coronary artery atherosclerosis Hyperapobetalipoproteinemia Tuberous xanthoma Episodic hemolytic anemia Abnormality of the integument Accelerated atherosclerosis Chronic hemolytic anemia Giant platelets Spinal cord compression Xanthelasma Macrothrombocytopenia Increased mean platelet volume Stomatocytosis Impaired platelet aggregation Xanthomatosis Limb undergrowth Omphalocele Cataract Chills Retinopathy Nausea and vomiting Nausea Memory impairment Pancreatitis EMG: myopathic abnormalities Glucose intolerance Episodic abdominal pain Peripheral arterial stenosis Acanthocytosis Peritonitis Impaired proprioception Precocious atherosclerosis Hypocholesterolemia Acute pancreatitis Hyperhidrosis Abnormality of vitamin metabolism Strabismus Micrognathia Nystagmus Scoliosis Seizures Lactescent serum Increased hepatocellular lipid droplets Intestinal bleeding Pancreatic calcification Increased circulating chylomicron concentration Lipemia retinalis Recurrent pancreatitis Eruptive xanthomas Chronic pancreatitis Pallor Dementia Clumsiness Long thorax Recurrent infections Dysphagia Flexion contracture Increased T3/T4 ratio No permanent dentition Thyroid hormone receptor defect Drowsiness Erythema Congenital hypothyroidism Relative macrocephaly Coxa vara Wormian bones Congenital hip dislocation Hoarse voice Pneumonia Lymphadenopathy Bronchiolitis obliterans organizing pneumonia Microcytic anemia Bronchiolitis obliterans Panniculitis Hypochromic anemia Bronchiolitis Calcinosis Myositis Hypermelanotic macule Cerebral calcification Increased antibody level in blood Keratitis Conjunctivitis Lymphopenia Sinusitis Inflammatory abnormality of the skin Asthenia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Anxiety, related diseases and genetic alterations Microphthalmia and Photophobia, related diseases and genetic alterations Congestive heart failure and Abnormality of the eye, related diseases and genetic alterations Strabismus and Macrocephaly, related diseases and genetic alterations Nystagmus and Retinal dystrophy, related diseases and genetic alterations

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Mendelian tool does not provide medical advice. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. It does not diagnose, it produces a ranked list of suspected genes which provide assistance for rare hereditary disease cases. Patients should discuss their findings with their healthcare provider
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