Hepatomegaly, and Abnormality of the cerebral white matter

Diseases related with Hepatomegaly and Abnormality of the cerebral white matter

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

Top matches:

Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.

OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY Is also known as pomc deficiency|proopiomelanocortin deficiency

Related symptoms:

  • Seizures
  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Obesity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY

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

Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cataract
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME

Other less relevant matches:

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

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

Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythima on EEG).

CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME Is also known as vps45 deficiency|congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME

3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.

3-HYDROXY-3-METHYLGLUTARIC ACIDURIA Is also known as hydroxymethylglutaric aciduria|hmg-coa lyase deficiency|3-hydroxy-3-methylglutaryl-coa lyase deficiency|hmgcl deficiency|hl deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Spasticity
  • Anemia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA

Peroxisome biogenesis disorder-4B (PDB4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4B; PBD4B

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013).For a discussion of genetic heterogeneity of MLASA, see MLASA1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2

Top 5 symptoms//phenotypes associated to Hepatomegaly and Abnormality of the cerebral white matter

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Acidosis Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Abnormality of the cerebral white matter. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypoplasia of the corpus callosum Spasticity Irritability Anemia Lactic acidosis Respiratory insufficiency Feeding difficulties Increased serum lactate Hyperammonemia Metabolic acidosis Dystonia Macrocephaly Hypoglycemia

Rare Symptoms - Less than 30% cases

Elevated hepatic transaminase Respiratory distress Splenomegaly Motor delay Myoclonus Cerebellar hypoplasia Neonatal hypotonia Agenesis of corpus callosum Cerebral visual impairment Hearing impairment Intellectual disability Visual impairment Ptosis Ventriculomegaly Apathy Aciduria Pneumonia Optic atrophy Nystagmus Adrenal insufficiency Vomiting Muscle weakness Encephalopathy Lethargy Ragged-red muscle fibers Growth delay Postnatal microcephaly Increased body weight Cholestasis Muscular hypotonia Tachypnea Sensorineural hearing impairment Ataxia Peripheral neuropathy Anisocytosis Hypertelorism Increased level of 3-hydroxy-3-methylglutaric acid in urine Poikilocytosis Increased level of hippuric acid in urine Fatigue 3-Methylglutaric aciduria Congenital neutropenia Diarrhea EEG abnormality Fever Coma Dehydration Pancreatitis Hyperuricemia Myelofibrosis Giant platelets Nonketotic hypoglycemia Ketonuria Excessive daytime somnolence Recurrent hypoglycemia Organic aciduria Decreased plasma carnitine Acute pancreatitis Dicarboxylic aciduria Glutaric aciduria Extramedullary hematopoiesis Dysarthria Gait disturbance Muscular hypotonia of the trunk Neuronal loss in the cerebral cortex Scoliosis Strabismus Skeletal muscle atrophy Dysphagia Cardiomyopathy Myopathy Areflexia Respiratory failure Hypertrophic cardiomyopathy Cirrhosis Chronic metabolic acidosis Ventricular hypertrophy Left ventricular hypertrophy Progressive muscle weakness Exercise intolerance Respiratory insufficiency due to muscle weakness Shock Abnormality of the coagulation cascade Generalized amyotrophy Ketosis Skeletal myopathy Proximal tubulopathy Congenital lactic acidosis Periventricular cysts Short nose Leukodystrophy Rod-cone dystrophy Retinal dystrophy Single transverse palmar crease Decreased liver function Decreased nerve conduction velocity Ureterocele Increased antibody level in blood Intellectual disability, severe Congestive heart failure Renal insufficiency Clonus Necrotizing encephalopathy CNS hypomyelination Athetosis Renal tubular acidosis Ketoacidosis Periventricular leukomalacia Dysgraphia Hyperalaninemia Increased serum pyruvate Cystinuria Proximal renal tubular acidosis Increased head circumference Enlarged kidney Muscle stiffness Leukopenia Peripheral demyelination Babinski sign Recurrent respiratory infections Cerebral cortical atrophy Hepatosplenomegaly Respiratory tract infection Generalized tonic-clonic seizures Abnormality of eye movement Neuronal loss in central nervous system Fasciculations Childhood-onset truncal obesity Hyperkinesis Abnormality of the periventricular white matter Astrocytosis CNS demyelination Abnormality of glycosphingolipid metabolism Generalized clonic seizures Cataract Cryptorchidism Hyperreflexia Abnormal eating behavior Increased adipose tissue Dilatation Hyperinsulinemia Obesity Delayed skeletal maturation Weight loss Delayed puberty Hepatic failure Hypopigmentation of the skin Growth hormone deficiency Hyperbilirubinemia Acanthosis nigricans Hyponatremia Central adrenal insufficiency Polyphagia Neonatal hypoglycemia Adrenal hypoplasia Decreased circulating cortisol level Pituitary hypothyroidism Adrenocorticotropic hormone deficiency Gonadotropin deficiency Red hair Hypoglycemic seizures Edema Polydactyly Recurrent bacterial infections Dysplastic corpus callosum Ophthalmoplegia Hepatic steatosis Bradykinesia Tetraparesis Spastic tetraparesis Leukoencephalopathy Macrovesicular hepatic steatosis Decreased activity of mitochondrial complex I Decreased activity of mitochondrial complex III Hypospadias Decreased activity of mitochondrial complex IV Blindness Immunodeficiency Recurrent infections Thrombocytopenia Abnormality of the nervous system Autistic behavior Neutropenia Increased bone mineral density Developmental regression Absent speech Abnormality of the kidney Apnea Congenital cataract Cerebral calcification Progressive neurologic deterioration Ectopic kidney Cystic renal dysplasia Microcephaly Neoplasm Clinodactyly Dyspnea Dolichocephaly Cleft palate Delayed myelination Severe muscular hypotonia Optic nerve hypoplasia Poor suck Stridor Poor eye contact Inspiratory stridor D-2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria Sideroblastic anemia


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