Hepatomegaly, and Tachycardia

Diseases related with Hepatomegaly and Tachycardia

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

Top matches:

Related symptoms:

  • Hepatomegaly
  • Respiratory distress
  • Congestive heart failure
  • Dyspnea
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION 10; LVNC10

Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.

FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY Is also known as fructose-1,6-diphosphatase deficiency|fbpase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY

HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.

HYPERINSULINISM DUE TO UCP2 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to ucp2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO UCP2 DEFICIENCY

Other less relevant matches:

Medium match AA AMYLOIDOSIS

Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.

AA AMYLOIDOSIS Is also known as secondary amyloidosis|inflammatory amyloidosis|reactive amyloidosis

Related symptoms:

  • Hepatomegaly
  • Vomiting
  • Abnormal heart morphology
  • Abdominal pain
  • Hypothyroidism


SOURCES: ORPHANET MENDELIAN

More info about AA AMYLOIDOSIS

Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.

HYPERINSULINISM DUE TO HNF1A DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to hnf1a deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hepatomegaly
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO HNF1A DEFICIENCY

Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY Is also known as autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY Is also known as dominant katp hyperinsulinism due to kir6.2 deficiency|autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY

Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term).

HYPERINSULINISM DUE TO HNF4A DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to hnf4a deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hepatomegaly
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO HNF4A DEFICIENCY

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

HEREDITARY COPROPORPHYRIA Is also known as cpox deficiency|cpx deficiency|coproporphyrinogen oxidase deficiency|cpo deficiency

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Hypertension


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY COPROPORPHYRIA

Top 5 symptoms//phenotypes associated to Hepatomegaly and Tachycardia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
Lethargy Common - Between 50% and 80% cases
Coma Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Neonatal hypoglycemia

Uncommon Symptoms - Between 30% and 50% cases

Drowsiness Hypoketotic hypoglycemia Pancreatic islet-cell hyperplasia Large for gestational age Hyperinsulinemic hypoglycemia Agitation Hyperinsulinemia Progressive neurologic deterioration Pallor Hyperhidrosis Abnormality of fatty-acid metabolism Global developmental delay Cognitive impairment Metabolic acidosis Elevated hepatic transaminase Vitamin B1 deficiency Intellectual disability Acidosis Secondary growth hormone deficiency

Rare Symptoms - Less than 30% cases

Hypotension Nausea Tremor Proteinuria Abdominal pain Increased body weight Fasting hypoglycemia Microcephaly Decreased circulating cortisol level Abnormal brain FDG positron emission tomography Muscle weakness Arrhythmia Neonatal hypotonia Fatigue Irritability Hypoglycemia Generalized hypotonia Severe lactic acidosis Congestive heart failure Cardiomegaly Muscular hypotonia Dyspnea Lactic acidosis Hypertension Peripheral neuropathy Behavioral abnormality Increased urinary glycerol Splenomegaly Abnormality of metabolism/homeostasis Pain Depressivity Areflexia Constipation Arthralgia Anemia Sinus bradycardia Decreased activity of mitochondrial respiratory chain Hyperalaninemia Hepatosplenomegaly Wolff-Parkinson-White syndrome Ketonuria Aspiration pneumonia Pleural effusion Infantile muscular hypotonia Bradycardia Increased serum lactate Ascites Poor speech Small for gestational age Jaundice Nausea and vomiting Myalgia Prolonged neonatal jaundice Red urine Abdominal colic Respiratory paralysis Compensated hemolytic anemia Congenital hemolytic anemia Delirium Paranoia Auditory hallucinations Ileus Visual hallucinations Insomnia Fragile skin Orthostatic hypotension Anxiety Hypermelanotic macule Hyponatremia Hallucinations Thin skin Hypertrichosis Cutaneous photosensitivity Psychosis Abnormal blistering of the skin Hemolytic anemia Paresthesia Confusion Pruritus Paralysis Hypertrophic cardiomyopathy Motor delay Encephalopathy Ventricular flutter Enlarged kidney Acute kidney injury Amyloidosis Malnutrition Adrenal insufficiency Atrioventricular block Chronic kidney disease Venous thrombosis Ventricular tachycardia Chronic diarrhea Cholestasis Nephrotic syndrome Nephropathy Abnormal echocardiogram Malabsorption Abnormality of the kidney Hypothyroidism Fever Abnormal heart morphology Apnea Hyperbilirubinemia Tachypnea Hyperuricemia Hyperventilation Ketosis Neonatal hyperbilirubinemia Abnormal renal physiology Abnormal oral mucosa morphology Dystonia Glycosuria Cardiomyopathy Optic atrophy Impaired gluconeogenesis Feeding difficulties Spasticity Failure to thrive Growth delay Ataxia Metabolic ketoacidosis Increased hepatic glycogen content Renal Fanconi syndrome Hypophosphatemic rickets Elevated alkaline phosphatase Renal amyloidosis Dilated cardiomyopathy Syncope Left ventricular hypertrophy Left ventricular noncompaction Abnormal myocardium morphology Pulmonary edema Respiratory distress Oliguria Left ventricular noncompaction cardiomyopathy Hepatic amyloidosis Cardiac amyloidosis Abnormal cardiac ventricle morphology Acute episodes of neuropathic symptoms


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