Hepatomegaly, and Atrial fibrillation

Diseases related with Hepatomegaly and Atrial fibrillation

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

Top matches:

FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY Is also known as familial or idiopathic restrictive cardiomyopathy

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Fatigue
  • Dyspnea
  • Ascites


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY

Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Other less relevant matches:

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

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

High match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

High match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.

LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lcad

Related symptoms:

  • Generalized hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Myopathy
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Atrial fibrillation

Symptoms // Phenotype % cases
Myopathy Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases

Congestive heart failure Global developmental delay Hypertrophic cardiomyopathy Short stature Cognitive impairment Elevated serum creatine phosphokinase Hypertension Vomiting Fatigue Palpitations Ventricular hypertrophy Cardiac arrest Rhabdomyolysis Feeding difficulties Osteoporosis Dilated cardiomyopathy Hepatosplenomegaly Myalgia Seizures Depressivity Splenomegaly Dysphagia Anemia Delayed skeletal maturation Peripheral neuropathy Dysarthria Diabetes mellitus Respiratory distress Hyperhidrosis Generalized hypotonia Scoliosis Left ventricular hypertrophy Prolonged QT interval Exercise intolerance Ventricular arrhythmia Pancreatitis Pyloric stenosis Elevated hepatic transaminase Abnormality of the skeletal system Acanthosis nigricans Muscle stiffness Bradycardia Epidermal acanthosis Growth hormone deficiency Cerebral atrophy Hepatic steatosis Hirsutism Osteopenia Respiratory insufficiency Sudden cardiac death Mental deterioration Gait disturbance Growth delay Generalized-onset seizure Skeletal muscle atrophy Dystonia Areflexia Renal insufficiency Anxiety Ventriculomegaly Dyspnea

Rare Symptoms - Less than 30% cases

Generalized muscle weakness Nystagmus Muscular hypotonia Tachycardia Protruding ear Postnatal growth retardation Hyperlordosis Ptosis Motor delay Hypertelorism Nausea Hypertriglyceridemia Long eyelashes Delayed puberty Hypothyroidism Cerebral cortical atrophy Supraventricular tachycardia Apnea Aortic aneurysm Atrioventricular block Gastroesophageal reflux Flexion contracture Hypogonadism Short neck Talipes equinovarus Lethargy Recurrent infections Arthrogryposis multiplex congenita Abnormality of the dentition Constipation Diarrhea Insulin resistance Pointed chin Postural instability Bundle branch block IgA deficiency Progressive proximal muscle weakness Prominent superficial veins Exercise-induced myalgia Ileus Generalized lipodystrophy Prolonged QTc interval Lipoatrophy Atlantoaxial dislocation Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Abnormal levels of creatine kinase in blood Mitral valve prolapse Abnormality of skeletal muscle fiber size Decreased body weight Secondary amenorrhea Spinal rigidity Congenital generalized lipodystrophy Hip dysplasia Accelerated skeletal maturation Glomerulopathy Atherosclerosis Generalized hirsutism Abnormality of the hair Polycystic ovaries Pulmonary arterial hypertension Prominent supraorbital ridges Reduced subcutaneous adipose tissue Hyperinsulinemia Lipodystrophy Failure to thrive in infancy Skeletal muscle hypertrophy Nephropathy Abnormality of the cardiovascular system Hematemesis Ventricular fibrillation Feeding difficulties in infancy Personality changes Ventricular septal defect Cardiorespiratory arrest Abnormality of cardiovascular system morphology Hyperlipidemia Myoclonus Ventricular tachycardia Rigidity Dementia Muscular dystrophy Hypertonia Ichthyosis Atrial septal defect Dyskinesia EMG: myopathic abnormalities Acanthocytosis Chorea Pes cavus Frontal bossing Motor axonal neuropathy Cardiomegaly Neonatal hypoglycemia Depressed nasal bridge Heart block Neurodevelopmental delay Micrognathia Wolff-Parkinson-White syndrome EMG abnormality Paresthesia Confusion Behavioral abnormality Tricuspid regurgitation Visual loss Ascites Myopia Proximal muscle weakness Visual impairment Abnormality of the liver Tachypnea Heart murmur Pain Pectus excavatum Involuntary movements Hallucinations Obsessive-compulsive behavior Pigmentary retinopathy Memory impairment Tics Personality disorder Psychosis Abnormal heart morphology Hoarse voice Spotty hypopigmentation Apraxia Cafe-au-lait spot Thick lower lip vermilion Abnormal macular morphology Hypoplasia of dental enamel Paronychia Hemeralopia Lymphedema Narrow palate Hydrops fetalis Wide anterior fontanel Hyperpigmentation of the skin Arnold-Chiari malformation Abnormality of dental enamel Bilateral cryptorchidism Syringomyelia Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Neuroblastoma Curly hair Keratoconus Large for gestational age Abnormal nerve conduction velocity Rocker bottom foot Renal Fanconi syndrome Tubulointerstitial abnormality Hypoplastic toenails Psychotic episodes Short chin Hyperglycemia Pleural effusion Redundant skin Abnormality of the cerebellar vermis Hyperextensible skin Poor suck Laryngomalacia Relative macrocephaly Hemangioma Infantile muscular hypotonia Abnormal dermatoglyphics Cutis laxa Crohn's disease Abnormality of the fingernails Eczema Abnormality of acid-base homeostasis Overgrowth Pectus carinatum Hydrocephalus Thick vermilion border Edema Intellectual disability, mild Short nose Long philtrum Wide nose Absent speech Hernia Joint hypermobility Astigmatism Joint hyperflexibility Pulmonic stenosis Hypermetropia Sparse hair Hematuria Coarse facial features Posteriorly rotated ears Respiratory failure Hyperkeratosis Proptosis Polyhydramnios Kyphoscoliosis Hypoglycemia Wide mouth Carcinoma Inguinal hernia Abnormality of the nervous system Joint laxity Low-set, posteriorly rotated ears Irritability Anteverted nares High, narrow palate Abnormal mitochondrial morphology Abnormal cochlea morphology Nevus Premature birth Webbed neck Episodic quadriplegia Severe short stature Homonymous hemianopia Abnormality of the skin Morphological abnormality of the vestibule of the inner ear Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Bilateral intracranial calcifications Morphological abnormality of the inner ear Sleep disturbance Low-set ears Downslanted palpebral fissures Macrocephaly Epicanthus Delayed speech and language development Tetraplegia High palate Macroglossia Prominent ear helix Cryptorchidism Abnormal facial shape Sepsis Strabismus Neoplasm Full cheeks Intellectual disability, moderate Hypopnea Arnold-Chiari type I malformation Gastrointestinal hemorrhage Clinodactyly Patent ductus arteriosus Polydactyly Abnormal cardiac septum morphology Bruising susceptibility Asthma Coarctation of aorta Syndactyly Epistaxis Short thumb Abnormal vertebral morphology Aortic valve stenosis Horseshoe kidney Finger clinodactyly Thrombocytopenia Cleft palate Eosinophilia Decreased plasma carnitine Autistic behavior Hyperammonemia Prolonged neonatal jaundice Fatigable weakness Hypothermia Atrial flutter Dicarboxylic aciduria Mild expressive language delay Nonketotic hypoglycemia Exercise-induced myoglobinuria Exercise-induced rhabdomyolysis Hepatocellular necrosis Elevated creatine kinase after exercise Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Aortic regurgitation Hypoplasia of the radius Systolic heart murmur Partial duplication of thumb phalanx Complete atrioventricular canal defect Anomalous pulmonary venous return Phocomelia Total anomalous pulmonary venous return Small thenar eminence Abnormality of the carpal bones Aplasia of the ulna Allergy Short digit Mesoaxial polydactyly Aplasia of the pectoralis major muscle Tibial torsion Lactose intolerance Patellar subluxation Ecchymosis Secundum atrial septal defect Triphalangeal thumb Limited elbow extension Bowing of the legs Hypoplasia of the ulna Menorrhagia Right bundle branch block Hypoplastic left heart Petechiae Absent thumb Down-sloping shoulders Atrioventricular canal defect Short humerus Oligodactyly Absent radius Thoracic scoliosis Short clavicles Truncus arteriosus Increased corneal curvature Thickened Achilles tendon Soft skin Concave nail Deep palmar crease Asymmetric septal hypertrophy Abnormal mitral valve morphology Broad philtrum Fasting hypoglycemia Hypoplasia of teeth Pneumothorax Redundant neck skin Hyperextensibility of the finger joints Rhabdomyosarcoma Broad femoral neck Schwannoma Abnormality of earlobe Limited elbow movement Labial hypoplasia Abnormality of the testis Bronchomalacia Barrel-shaped chest Obstructive sleep apnea Severe postnatal growth retardation Microscopic hematuria Thickened nuchal skin fold Fragile nails Megalencephaly Progeroid facial appearance Lack of skin elasticity Woolly hair Large earlobe Thick upper lip vermilion Achilles tendon contracture Large forehead Verrucae Central apnea Fetal distress Papilloma Congenital neuroblastoma Loose anagen hair Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Neonatal sepsis Choroid plexus papilloma Bladder carcinoma Cardiomyocyte hypertrophy Macrocephaly at birth Vestibular Schwannoma Enlarged cerebellum Myofiber disarray Vitreomacular adhesion Tendon rupture Alveolar rhabdomyosarcoma Lymphangiectasis Deep-set nails Frontal hirsutism Large face Abnormal pulmonary valve morphology Thin nail Deep plantar creases Melena Triangular mouth Capillary malformation Bladder neoplasm Duodenal ulcer Ganglioneuroblastoma Ulnar deviation of the wrist Body odor Postprandial hyperglycemia Shyness Amaurosis fugax Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Auditory hallucinations Purpura Gastroparesis Thin skin Generalized muscle hypertrophy Prominent umbilicus Abnormality of upper lip Atlantoaxial instability Polymorphic ventricular tachycardia Fasting hyperinsulinemia Protuberant abdomen Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Cutis marmorata Reduced bone mineral density Delayed gross motor development Recurrent bacterial infections Sparse and thin eyebrow Spastic paraplegia Muscle mounding Distal muscle weakness Joint stiffness Neonatal hypotonia Dilatation Abnormality of the astrocytes Hyporeflexia of upper limbs Abnormal facial expression Blood group antigen abnormality Recurrent singultus Abnormal corpus striatum morphology Caudate atrophy Abnormal lactate dehydrogenase activity Abnormal social behavior Impaired temperature sensation Cervical spine instability Adipose tissue loss Increased muscle fatiguability Hearing impairment Hyporeflexia Encephalopathy Headache Kyphosis Cerebellar atrophy Blindness Tremor Optic atrophy Fever Hyperreflexia Cataract Sensorineural hearing impairment Ataxia Microcephaly Abnormal oral cavity morphology Immunodeficiency Myocardial infarction Mandibular prognathia Abnormality of the foot Abnormality of skin pigmentation Cirrhosis Hepatic failure Recurrent fractures Thickened skin Arterial stenosis Precocious puberty Large hands Growth hormone excess Oligomenorrhea Broad foot Bone cyst Generalized limb muscle atrophy Hyporeflexia of lower limbs Rod-cone dystrophy Distal amyotrophy Myocardial fibrosis Reduced ejection fraction Abnormality of the gastrointestinal tract Hypokinesia Abnormal retinal morphology Generalized amyotrophy Back pain Abnormal electroretinogram Cone/cone-rod dystrophy Respiratory insufficiency due to muscle weakness Decreased liver function Progressive visual loss Chest pain Distal sensory impairment Limb muscle weakness Skeletal myopathy Abnormality of the musculature Abnormal left ventricle morphology Peripheral edema Increased pulmonary vascular resistance Abnormal ventricular filling Pneumonia Aspiration Aspiration pneumonia Retinopathy Abetalipoproteinemia Phonic tics Hyperactivity Reduced visual acuity Abnormality of the eye Scarring Myofibrillar myopathy Autophagic vacuoles Excessive salivation Parkinsonism Orofacial dyskinesia Left bundle branch block Ventricular extrasystoles Bipolar affective disorder Insomnia Restlessness Impaired pain sensation Impaired vibration sensation in the lower limbs Bowel incontinence Sensory axonal neuropathy Emotional lability Sleep apnea Sensorimotor neuropathy Neuronal loss in central nervous system Sensory neuropathy Muscle flaccidity Macular hypopigmentation Retinal pigment epithelial mottling Exercise-induced muscle cramps Impaired myocardial contractility Ventricular preexcitation Myocardial necrosis Left ventricular systolic dysfunction Suicidal ideation Hemolytic anemia Increased cerebral lipofuscin Glycogen accumulation in muscle fiber lysosomes Babinski sign Abnormality of the cerebral white matter Abnormality of movement Lower limb muscle weakness Cerebellar hypoplasia Abdominal pain Spontaneous hematomas Visual field defect Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Hyperthyroidism Basal ganglia calcification Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Hyperkalemia Xerostomia Mask-like facies Abnormality of mitochondrial metabolism Hyponatremia Ophthalmoparesis Intestinal obstruction Aplasia/Hypoplasia of the cerebellum Bifid scrotum Hemiplegia/hemiparesis Dysphasia Focal segmental glomerulosclerosis Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Aphasia Vestibular dysfunction Vitiligo Hypoparathyroidism Bilateral ptosis Left ventricular failure Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Seborrheic dermatitis Mitochondrial myopathy Renal tubular dysfunction Progressive external ophthalmoplegia Posterior subcapsular cataract Transient ischemic attack Delusions Facial diplegia Aortic dissection Tubulointerstitial nephritis Stroke-like episode Visual hallucinations Increased CSF lactate Cerebral ischemia Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Hemiplegia Hypercalciuria Gait ataxia Ophthalmoplegia Abnormal cerebellum morphology Muscle cramps Coma Polyneuropathy Polymicrogyria Lactic acidosis Peripheral axonal neuropathy Vertigo Dysmetria Anal atresia Malabsorption Nausea and vomiting Carious teeth Congenital cataract Generalized tonic-clonic seizures Sensory impairment Proteinuria Weight loss Autism Acidosis Jaundice Photophobia EEG abnormality Developmental regression Pruritus Abnormality of the pinna Erythema Nyctalopia Attention deficit hyperactivity disorder Stroke Neurological speech impairment Generalized myoclonic seizures Migraine Decreased nerve conduction velocity Type I diabetes mellitus Cachexia Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Goiter Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Macular degeneration Hypogonadotrophic hypogonadism Increased serum lactate Status epilepticus Specific learning disability Amenorrhea Cerebral calcification Bilateral sensorineural hearing impairment Nephrotic syndrome Type II diabetes mellitus Hemiparesis Truncal ataxia Hypertrichosis Anorexia Gingival overgrowth Abnormality of retinal pigmentation Cerebral visual impairment Clonus Quadricuspid aortic valve


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