Hepatomegaly, and Dystonia

Diseases related with Hepatomegaly and Dystonia

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

Top matches:

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.

ENCEPHALOPATHY DUE TO PROSAPOSIN DEFICIENCY Is also known as prosaposin deficiency|combined sap deficiency|psapd|combined prosaposin deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ENCEPHALOPATHY DUE TO PROSAPOSIN DEFICIENCY

Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by Muntau et al., 2000).See also isolated L-2-hydroxyglutaric aciduria (OMIM ) and isolated D-2-hydroxyglutaric aciduria (see {600721}).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD

Other less relevant 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

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.

LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME Is also known as coxpd12|combined oxidative phosphorylation defect type 12|ltbl|leukoencephalopathy with thalamus and brainstem involvement and high lactate

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME

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

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

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3 Is also known as fatal mitochondrial disease due to coxpd3|encephalomyopathy, respiratory failure, and lactic acidosis|concentric cardiomyopathy, hypotonia, and lactic acidosis

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3

Top 5 symptoms//phenotypes associated to Hepatomegaly and Dystonia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Optic atrophy Feeding difficulties Cognitive impairment Splenomegaly Muscle weakness Encephalopathy Intellectual disability Cardiomyopathy Spasticity Ataxia Dysarthria Lactic acidosis Hepatosplenomegaly Myoclonus Increased serum lactate Respiratory failure Failure to thrive Acidosis Anemia Respiratory distress Growth delay

Rare Symptoms - Less than 30% cases

Aspiration pneumonia Peripheral neuropathy Rhabdomyolysis Hepatic steatosis Renal insufficiency Severe muscular hypotonia Developmental regression Apathy Neonatal hypotonia Thrombocytopenia Tremor Coma Irritability Visual impairment Neutropenia Myopathy Lethargy Arrhythmia Loss of speech Elevated serum creatine phosphokinase Nausea and vomiting Dilated cardiomyopathy Dyskinesia Cardiomegaly Tetraparesis Bradykinesia Hypertrophic cardiomyopathy Severe lactic acidosis Abnormality of the cerebral white matter Metabolic acidosis Neuronal loss in central nervous system Hyperammonemia Mental deterioration Decreased activity of mitochondrial complex IV Respiratory tract infection Decreased activity of mitochondrial complex III Decreased activity of mitochondrial complex I Choreoathetosis Ventriculomegaly Chorea Ragged-red muscle fibers Hypoplasia of the corpus callosum Pancreatitis Vertical supranuclear gaze palsy Hyperalaninemia Cataplexy Perseveration Decreased activity of mitochondrial respiratory chain Visceromegaly Supranuclear gaze palsy Bone-marrow foam cells Abnormal lung morphology Dysphagia Neurofibrillary tangles Dementia Stereotypy Prolonged neonatal jaundice Paralysis Interstitial pulmonary abnormality Neurodegeneration Aphasia Psychosis Athetosis Progressive neurologic deterioration Oral-pharyngeal dysphagia Renal tubular dysfunction Stroke Fetal ascites Progressive psychomotor deterioration Generalized hirsutism Acanthosis nigricans Lipodystrophy Hyperinsulinemia Brisk reflexes Reduced subcutaneous adipose tissue Limb dystonia Progressive encephalopathy Generalized lipodystrophy Caudate atrophy Hypertriglyceridemia Poor motor coordination Reduced intraabdominal adipose tissue Intrauterine growth retardation Patent ductus arteriosus Feeding difficulties in infancy Peripheral axonal neuropathy Decreased fetal movement Sensorimotor neuropathy Patent foramen ovale Optic neuropathy Insulin resistance Status epilepticus Sea-blue histiocytosis Anorexia Motor aphasia Foam cells in visceral organs and CNS Abnormal cholesterol homeostasis Low cholesterol esterification rates Immunodeficiency Abdominal pain Wolff-Parkinson-White syndrome Abnormality of movement Dehydration Delayed speech and language development Sleep disturbance Hypertension Hyperreflexia Cerebellar atrophy Hypertonia Cerebral atrophy Hyperactivity Gait ataxia Coarse facial features Abnormal pyramidal sign Cirrhosis Sinus bradycardia Leukoencephalopathy Ketonuria Cerebral visual impairment Dyspnea Apnea Dolichocephaly Delayed myelination Aciduria Postnatal microcephaly Optic nerve hypoplasia Cerebellar hypoplasia Poor suck Stridor Poor eye contact Inspiratory stridor D-2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria Sepsis Agenesis of corpus callosum Clinodactyly Behavioral abnormality Fasciculations Hemiplegia/hemiparesis Babinski sign Recurrent respiratory infections Cerebral cortical atrophy Generalized tonic-clonic seizures Abnormality of eye movement Peripheral demyelination Hyperkinesis Macrocephaly Abnormality of the periventricular white matter Astrocytosis CNS demyelination Abnormality of glycosphingolipid metabolism Generalized clonic seizures Microcephaly Neoplasm Skeletal muscle atrophy Depressivity Pleural effusion Motor delay Elevated hepatic transaminase Ophthalmoplegia Cholestasis Muscle stiffness Spastic tetraparesis Macrovesicular hepatic steatosis Dysplastic corpus callosum Congestive heart failure Absent speech Hypoglycemia Small for gestational age Poor speech Tachycardia Ascites Bradycardia Infantile muscular hypotonia Hypospadias Ptosis Areflexia EMG abnormality Pneumonia Anxiety Muscular dystrophy Ichthyosis Generalized-onset seizure Atrial fibrillation Aspiration Obsessive-compulsive behavior Cleft palate Abnormality of the musculature Motor axonal neuropathy Acanthocytosis Tics Personality disorder Abetalipoproteinemia Phonic tics Concentric hypertrophic cardiomyopathy


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