Hepatomegaly, and Bradycardia

Diseases related with Hepatomegaly and Bradycardia

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

Top matches:

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Low-set ears
  • Hepatomegaly
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A

High match USP18 DEFICIENCY

Pseudo-TORCH syndrome-2 is an autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway (summary by Meuwissen et al., 2016).For a discussion of genetic heterogeneity of PTORCH, see PTORCH1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hepatomegaly
  • Ventriculomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about USP18 DEFICIENCY

FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

Other less relevant matches:

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

Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

SYSTEMIC PRIMARY CARNITINE DEFICIENCY Is also known as cud|carnitine uptake deficiency|carnitine transporter defect|systemic carnitine deficiency|deficiency of plasma-membrane carnitine transporter|scd|carnitine deficiency, primary|carnitine deficiency, systemic, due to defect in renal reabsorption of carniti

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYSTEMIC PRIMARY CARNITINE DEFICIENCY

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY Is also known as cact deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY

High match DK1-CDG

DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Bradycardia

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Elevated hepatic transaminase Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive

Common Symptoms - More than 50% cases

Arrhythmia

Uncommon Symptoms - Between 30% and 50% cases

Cardiomyopathy Hypoglycemia Splenomegaly Myopathy Myalgia Hypertrophic cardiomyopathy Cardiomegaly Ventricular hypertrophy Growth delay Muscular hypotonia Feeding difficulties Encephalopathy Elevated serum creatine phosphokinase Hepatic steatosis Apnea Muscle stiffness Intellectual disability Short stature Cyanosis Tachycardia Vomiting Lipoatrophy Hypoketotic hypoglycemia Ventricular tachycardia Dilatation Ventriculomegaly Acidosis Lethargy Respiratory insufficiency Ascites Microcephaly Hepatosplenomegaly

Rare Symptoms - Less than 30% cases

Hyperammonemia Spinal rigidity Loss of subcutaneous adipose tissue in limbs Secondary amenorrhea IgA deficiency Hyperlordosis Delayed gross motor development Prolonged QTc interval Progressive proximal muscle weakness Irritability Coma Exercise-induced myalgia Dysmenorrhea Dilated cardiomyopathy Generalized lipodystrophy Atlantoaxial dislocation Prominent superficial veins Decreased plasma carnitine Osteopenia Atherosclerosis Epidermal acanthosis Atrial fibrillation Hypertriglyceridemia Palpitations Leukopenia Insulin resistance Hirsutism Accelerated skeletal maturation Acanthosis nigricans Pancreatitis Generalized muscle weakness Nystagmus Polycystic ovaries Feeding difficulties in infancy Pyloric stenosis Prominent supraorbital ridges Hyperinsulinemia Lipodystrophy Skeletal muscle hypertrophy Hepatic failure Fasting hypoglycemia Ventricular fibrillation Abnormal levels of creatine kinase in blood Growth hormone deficiency Aspiration Hypotension Sinus bradycardia Congenital generalized lipodystrophy Cerebral calcification Thin skin Low-set ears Scoliosis Renal insufficiency Spasticity Cognitive impairment Flexion contracture Exercise intolerance Decreased liver function Dystonia Abnormality of skeletal muscle fiber size Diabetes mellitus Ketonuria Osteoporosis Delayed skeletal maturation Lactic acidosis Recurrent infections Sparse and thin eyebrow Respiratory distress Thrombocytopenia Neurodevelopmental delay Sudden cardiac death Spastic paraplegia Microcytic anemia Muscular dystrophy Bilateral talipes equinovarus Epileptic spasms Abnormality of coagulation Hypothyroidism Myocarditis Hypertension Rigidity Constipation Talipes equinovarus Abnormality of the skeletal system Neonatal hypotonia Dysphagia Proximal muscle weakness Aplasia of the fingers Congenital hepatic fibrosis Postnatal growth retardation Protruding ear Adactyly Abnormal isoelectric focusing of serum transferrin Reduced antithrombin III activity Type I transferrin isoform profile Distal muscle weakness Aplasia/Hypoplasia of the nipples Joint stiffness Cerebral hemorrhage Long eyelashes Thickened skin Hyperhidrosis Mandibular prognathia Abnormality of the foot Abnormality of skin pigmentation Cirrhosis Nephropathy Recurrent fractures Pulmonary arterial hypertension Myocardial infarction Abnormality of the hair Peripheral neuropathy Generalized hirsutism Precocious puberty Large hands Glomerulopathy Growth hormone excess Oligomenorrhea Broad foot Bone cyst Arterial stenosis Immunodeficiency Adipose tissue loss Pointed chin Reduced subcutaneous adipose tissue Recurrent bacterial infections Hyperlipidemia Reduced bone mineral density Ventricular arrhythmia Failure to thrive in infancy Cutis marmorata Increased variability in muscle fiber diameter Mildly elevated creatine phosphokinase Prolonged QT interval Protuberant abdomen Muscle mounding Supraventricular tachycardia Ileus Fasting hyperinsulinemia Polymorphic ventricular tachycardia Atlantoaxial instability Abnormality of upper lip Prominent umbilicus Generalized muscle hypertrophy Cervical spine instability Hyperglycemia Absent speech Erythroderma Polycystic kidney dysplasia Hyperalaninemia Decreased activity of mitochondrial respiratory chain Pain Fever Fatigue Generalized neonatal hypotonia Recurrent respiratory infections Abdominal pain Respiratory tract infection Confusion Epiphyseal stippling Clumsiness Wolff-Parkinson-White syndrome Left ventricular hypertrophy Easy fatigability Decreased muscle mass Neck muscle weakness Excessive daytime somnolence Recurrent hypoglycemia Flat face Skeletal myopathy Endocardial fibroelastosis Generalized tonic-clonic seizures with focal onset Acute encephalopathy Reye syndrome-like episodes Severe lactic acidosis Aspiration pneumonia Reduced muscle carnitine level Pulmonary edema Dilation of lateral ventricles Intracranial hemorrhage Micrognathia Abnormal facial shape Pachygyria Heterotopia Macroglossia Polymicrogyria Heart murmur Neonatal hypoglycemia Enlarged kidney Myoglobinuria Biventricular hypertrophy Pleural effusion Shortened PR interval Ataxia Respiratory failure Cerebellar hypoplasia Patent ductus arteriosus Motor delay Optic atrophy Small for gestational age Poor speech Metabolic acidosis Increased serum lactate Infantile muscular hypotonia Impaired gluconeogenesis Irregular respiration Sacral dimple Alopecia Hypothermia Preeclampsia Reduced ejection fraction Dicarboxylic aciduria Oliguria Decreased urine output Elevated plasma acylcarnitine levels Elevated creatine kinase after exercise Sudden episodic apnea Abnormality of skeletal muscles Strabismus Petechiae Cerebral cortical atrophy Ventricular extrasystoles Hyperkeratosis Dry skin Ichthyosis Neutropenia Tetraplegia Abnormal bleeding Hypsarrhythmia Inflammatory abnormality of the skin Postnatal microcephaly Recurrent pneumonia Sparse eyelashes Severe muscular hypotonia Cardiorespiratory arrest Rhabdomyolysis Decreased carnitine level in liver Pruritus Anemia Intrauterine growth retardation Tremor Hydrocephalus Cerebellar atrophy Hypertonia High forehead Cerebral atrophy Pneumonia Areflexia Paralysis Severe global developmental delay Convex nasal ridge Atrioventricular block Pancytopenia Progressive microcephaly Leukodystrophy Atrophy/Degeneration affecting the brainstem Facial paralysis Lymphocytosis CSF lymphocytic pleiocytosis Abnormality of the nervous system Aciduria Progressive neurologic deterioration Cardiac arrest Wide nasal bridge Abnormal oral cavity morphology


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