Hepatomegaly, and Dyskinesia

Diseases related with Hepatomegaly and Dyskinesia

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

Top matches:

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

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene (OMIM ), referred to as type C1 (OMIM ); 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2. The clinical manifestations of types C1 (OMIM ) and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C2; NPC2

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

Other less relevant matches:

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

High match CYSTIC FIBROSIS

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

CYSTIC FIBROSIS Is also known as mucoviscidosis|cf

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTIC FIBROSIS

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA

Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOREOACANTHOCYTOSIS

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Dyskinesia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Dystonia Common - Between 50% and 80% cases
Dysphagia Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Abnormality of movement Global developmental delay Ataxia Muscular hypotonia Areflexia Dementia Cardiomyopathy Mental deterioration Dysarthria Peripheral neuropathy Gait disturbance Cognitive impairment Neuronal loss in central nervous system Tremor Respiratory failure Spasticity Generalized hypotonia Intellectual disability Fatigue Hepatosplenomegaly Chorea Gliosis Neurological speech impairment Anemia Depressivity Behavioral abnormality Recurrent respiratory infections Skeletal muscle atrophy Elevated hepatic transaminase Babinski sign Rigidity Cerebral atrophy Congestive heart failure Abnormality of eye movement Limb muscle weakness Respiratory tract infection Abnormal pyramidal sign Vomiting Respiratory distress Abnormality of the liver Failure to thrive Abnormal cerebellum morphology Parkinsonism Memory impairment Involuntary movements Abnormal facial shape Orofacial dyskinesia Motor delay Hyperreflexia Developmental regression Encephalopathy Pallor Malabsorption Hypertrophic cardiomyopathy Anxiety Feeding difficulties Oral-pharyngeal dysphagia Psychosis Hyporeflexia Acanthocytosis Tics Progressive neurologic deterioration Paralysis Elevated serum creatine phosphokinase

Rare Symptoms - Less than 30% cases

Basal ganglia calcification Atrial fibrillation Aspiration pneumonia Cardiomegaly Generalized-onset seizure Migraine Bipolar affective disorder Optic disc pallor Motor axonal neuropathy Leukoencephalopathy Vertigo Pancreatitis Malnutrition Edema Aspiration Metabolic acidosis EMG abnormality Obsessive-compulsive behavior Intrauterine growth retardation Progressive encephalopathy Hypertension Rhabdomyolysis Pain Abnormality of the eye Macrocephaly Stroke Irritability Feeding difficulties in infancy Hypoglycemia Acidosis Caudate atrophy Coma Progressive choreoathetosis Growth delay Emotional lability Personality changes Athetosis Exercise intolerance Nystagmus Arrhythmia Choreoathetosis Abnormal lung morphology Abnormality of extrapyramidal motor function Abdominal pain Sleep disturbance Recurrent infections Dilatation Short stature Dehydration Bradykinesia Neurodegeneration Hyperhidrosis Abetalipoproteinemia Dilated cardiomyopathy Infantile encephalopathy Cardiac arrest Headache Left ventricular hypertrophy Personality disorder Sensory neuropathy Hemolytic anemia Myoclonus Pneumonia Phonic tics Abnormality of the cerebral white matter Respiratory insufficiency Ventriculomegaly Intracranial hemorrhage Hemiplegia Encephalitis Dilation of lateral ventricles Spastic diplegia Acute encephalopathy Subdural hemorrhage Ketonemia Symmetrical progressive peripheral demyelination Macrocephaly at birth Glutaric acidemia Glutaric aciduria Retinal hemorrhage Fasting hypoglycemia Opisthotonus Decreased plasma carnitine Abnormality of the retinal vasculature Cerebral ischemia Ketonuria Generalized dystonia Malignant hyperthermia Bulbar palsy Hyperkinesis Inability to walk Cerebral palsy Vasculitis Self-mutilation Protruding tongue Abnormality of the thyroid gland Generalized amyotrophy Self-injurious behavior Abnormality of vision Drooling Abnormal bleeding Disinhibition Generalized muscle weakness Ascites Lymphadenopathy Abnormality of the foot Nausea and vomiting Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Hearing impairment Dysgraphia Joint dislocation Square-wave jerks Large fontanelles Aciduria Delayed myelination Aggressive behavior Prominent forehead Fever Self-mutilation of tongue and lips due to involuntary movements Subcortical dementia Muscle fiber atrophy Progressive distal muscular atrophy Hair-pulling Abnormality of urine homeostasis Distal upper limb muscle weakness Abnormal erythrocyte morphology Difficulty in tongue movements Mood changes Abnormal urinary color Acute hepatic failure Congenital diaphragmatic hernia Micrognathia Cerebral edema Progressive macrocephaly Cardiogenic shock Macrovesicular hepatic steatosis Biventricular hypertrophy Axial dystonia Decreased activity of mitochondrial respiratory chain Stiff neck Acute pancreatitis Severe lactic acidosis Congenital lactic acidosis Corpus callosum atrophy Wolff-Parkinson-White syndrome Increased CSF lactate Nemaline bodies Cardiorespiratory arrest Mitochondrial myopathy Optic neuropathy Renal tubular acidosis Weak cry Necrotizing encephalopathy Abnormal mitochondria in muscle tissue Progressive spasticity Macrocytic anemia Congenital hemolytic anemia Chronic hemolytic anemia Abnormal posturing Normochromic anemia Nonspherocytic hemolytic anemia Cholecystitis Normocytic anemia Diaphragmatic paralysis Abnormality of immune system physiology Cholelithiasis Acute necrotizing encephalopathy Decreased nerve conduction velocity Respiratory insufficiency due to muscle weakness Progressive muscle weakness Intention tremor Oligohydramnios Unsteady gait Jaundice Kyphosis Exercise-induced lactic acidemia Poor eye contact Pericardial effusion Strabismus Patent ductus arteriosus Severe global developmental delay Retinopathy Apnea Muscular hypotonia of the trunk Myalgia Proximal muscle weakness Kyphoscoliosis Agenesis of corpus callosum Hernia Talipes Renal insufficiency Cerebellar atrophy Blindness Atrial septal defect Talipes equinovarus Optic atrophy Visual impairment Ptosis Sensorineural hearing impairment Lethargy Stage 5 chronic kidney disease Global brain atrophy Weight loss Adrenal insufficiency Incoordination Ragged-red muscle fibers Shock Horizontal nystagmus Leukodystrophy Wide anterior fontanel Ventricular hypertrophy Coarctation of aorta Pigmentary retinopathy Lactic acidosis Cyanosis Febrile seizures Increased serum lactate Premature birth Brain atrophy Generalized myoclonic seizures Progressive cerebellar ataxia Hepatic steatosis Hepatic failure Abnormality of the nervous system Biliary cirrhosis Cerebral cortical atrophy Thrombocytopenia Clumsiness Broad-based gait Cerebral calcification Urinary incontinence Postural instability Dysmetria Corneal opacity Gait ataxia Microcephaly Schizophrenia Abnormality of the astrocytes Hyporeflexia of upper limbs Abnormal facial expression Blood group antigen abnormality Recurrent singultus Abnormal corpus striatum morphology Abnormal lactate dehydrogenase activity Abnormal social behavior Muscle stiffness Slurred speech Generalized limb muscle atrophy Subcutaneous hemorrhage Diarrhea Neoplasm Dense calcifications in the cerebellar dentate nucleus Calcification of the small brain vessels Pill-rolling tremor Micrographia Focal motor seizures Limb dysmetria Mood swings Dysdiadochokinesis Alcoholism Pseudohypoparathyroidism Focal dystonia Calcinosis Abnormal lower motor neuron morphology Lewy bodies Frontotemporal dementia Abnormality of neuronal migration Mask-like facies Impaired temperature sensation Increased muscle fatiguability Diabetes mellitus Supranuclear gaze palsy Motor aphasia Sea-blue histiocytosis Fetal ascites Bone-marrow foam cells Cataplexy Vertical supranuclear gaze palsy Perseveration Visceromegaly Loss of speech Abnormal cholesterol homeostasis Neurofibrillary tangles Prolonged neonatal jaundice Interstitial pulmonary abnormality Aphasia Stereotypy Abnormality of the musculature Ichthyosis Muscular dystrophy Foam cells in visceral organs and CNS Low cholesterol esterification rates Hyporeflexia of lower limbs Bowel incontinence Excessive salivation Supraventricular tachycardia Left bundle branch block Ventricular extrasystoles Insomnia Restlessness Impaired pain sensation Impaired vibration sensation in the lower limbs Sensory axonal neuropathy Hypertonia Ventricular fibrillation Ventricular arrhythmia Sleep apnea Sensorimotor neuropathy Hallucinations Paresthesia Confusion Lower limb muscle weakness Dyspnea Immunodeficiency Gastroesophageal reflux Pes cavus Hypertelorism Coarse facial features Mandibular prognathia Delayed skeletal maturation Inguinal hernia Short nose Abnormality of the dentition Wide nasal bridge Delayed speech and language development Scoliosis Pes planus Microscopic nephrocalcinosis Echogenic fetal bowel Cellular metachromasia Biliary tract obstruction Elevated sweat chloride Absent vas deferens Obstructive azoospermia Recurrent bronchopulmonary infections Umbilical hernia Arthritis Pancreatic adenocarcinoma Macroorchidism Cataract Aspartylglucosaminuria Abnormality of amino acid metabolism Anterior beaking of lumbar vertebrae Vascular skin abnormality Large face Abnormal cortical bone morphology Beaking of vertebral bodies Abnormality of the ulna Joint stiffness Thickened calvaria Chronic otitis media Abnormal vertebral morphology Gingival overgrowth Macroglossia Thick vermilion border Carious teeth Microtia Pectus carinatum Meconium ileus Productive cough Carcinoma Bronchiectasis Portal hypertension Hypercalciuria Tachypnea Azoospermia Nephrocalcinosis Recurrent pneumonia Sinusitis Insulin resistance Decreased antibody level in blood Intestinal obstruction Asthma Abdominal distention Cirrhosis Nausea Infertility Delayed puberty Cough Scarring Clubbing Emphysema Obstructive lung disease Abnormality of the pancreas Secretory diarrhea Chronic pancreatitis Chronic infection Nasal polyposis Rectal prolapse Pneumothorax Ileus Allergy Cor pulmonale Pulmonary fibrosis Chronic obstructive pulmonary disease Chronic lung disease Neoplasm of the pancreas Exocrine pancreatic insufficiency Hemoptysis Wheezing Bronchitis Male infertility Steatorrhea Central nervous system degeneration


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