Hepatomegaly, and Brain atrophy

Diseases related with Hepatomegaly and Brain atrophy

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

Top matches:

Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).

PYRIDOXINE-DEPENDENT EPILEPSY Is also known as antiquitin deficiency|vitamin b6-dependent seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about PYRIDOXINE-DEPENDENT EPILEPSY

FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY Is also known as apoc2 deficiency|hyperlipoproteinemia, type ib|familial apoc-ii deficiency|c-ii anapolipoproteinemia

Related symptoms:

  • Global developmental delay
  • Pain
  • Hepatomegaly
  • Macrocephaly
  • Splenomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL APOLIPOPROTEIN C-II 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

Other less relevant matches:

Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.

CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE Is also known as dihydrofolate reductase deficiency|dhfr deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE

Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

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

Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.

HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1 Is also known as hepatoencephalopathy, early fatal progressive|hepatoencephalopathy due to coxpd1

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1

Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (MAHCC ), cblD, cblF (MAHCF ), and cblJ (MAHCJ ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24. Another form of isolated MMA (OMIM ) can be caused by defect in the transcobalamin receptor (CD320 ).

METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1 Is also known as methylmalonic acidemia, cblh type, formerly|functional methionine synthase deficiency type cbldv1|methylmalonic aciduria, cblh type, formerly|methylmalonic acidemia and homocystinuria, cbld type

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1

Top 5 symptoms//phenotypes associated to Hepatomegaly and Brain atrophy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Cerebral atrophy Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Hepatosplenomegaly Anemia Spasticity Thrombocytopenia Dystonia Hyperreflexia Intellectual disability Failure to thrive Neuronal loss in central nervous system Hypoplasia of the corpus callosum Cerebellar atrophy Ataxia Respiratory insufficiency Developmental regression Microcephaly Strabismus Muscular hypotonia Encephalopathy Cerebral cortical atrophy Vomiting

Rare Symptoms - Less than 30% cases

Nystagmus Progressive encephalopathy Intrauterine growth retardation Gait disturbance Acidosis Progressive neurologic deterioration Muscular hypotonia of the trunk Delayed myelination Aciduria Megaloblastic anemia Methylmalonic aciduria Hypertonia Irritability Respiratory distress Respiratory failure Tetraparesis Pallor Abnormality of eye movement Respiratory tract infection Ventriculomegaly Status epilepticus Macrocephaly Abnormality of the nervous system Lethargy Hypertriglyceridemia Optic atrophy Myoclonus Growth delay Abnormality of the cerebral white matter Uncontrolled eye movements Cholestasis Decreased liver function Global brain atrophy Hypokinesia Poor eye contact Decreased methylcobalamin Leukopenia Increased CSF lactate Fulminant hepatic failure Basal ganglia cysts Absent speech Alopecia Hyperhomocystinemia Skin rash Bradykinesia Short femoral neck Increased serum lactate Metabolic acidosis Small hand Lactic acidosis Megaloblastic bone marrow Decreased methionine synthase activity Decreased adenosylcobalamin Cardiomyopathy Decreased methylmalonyl-CoA mutase activity Osteopetrosis Epicanthus Depressed nasal bridge Motor delay High palate Low-set ears Spastic paraplegia Lymphadenopathy Paraplegia Anorexia Hydrocephalus Increased density of long bones Frontal bossing Fatigue Prominent forehead Behavioral abnormality Dehydration Chilblains Serositis Atopic dermatitis Basal ganglia calcification Progressive spastic paraplegia Pericardial effusion Increased antibody level in blood Intracranial hemorrhage Tetraplegia Progressive microcephaly Short chin Triangular face Nephrotic syndrome Increased head circumference Facial palsy Lower limb spasticity Methylmalonic acidemia Toe walking Enterocolitis Vasculitis Homocystinuria Spastic ataxia Increased mean corpuscular volume Spastic tetraparesis Spastic tetraplegia Gait ataxia Reduced intraabdominal adipose tissue Generalized clonic seizures Fasciculations Hyperkinesis Abnormality of the periventricular white matter Astrocytosis CNS demyelination Abnormality of glycosphingolipid metabolism Dilatation Generalized tonic-clonic seizures Cerebellar hypoplasia Jaundice Generalized-onset seizure Pancytopenia Cerebellar vermis hypoplasia Postnatal microcephaly Absence seizures Peripheral demyelination Recurrent respiratory infections Central hypotonia Pancreatitis Abnormality of metabolism/homeostasis EEG abnormality Neurological speech impairment Abnormality of movement Pain Abdominal pain Hypercholesterolemia Babinski sign Episodic abdominal pain Hyperlipoproteinemia Chronic pancreatitis Epigastric pain Eruptive xanthomas Lipemia retinalis Increased circulating chylomicron concentration Poor head control Eyelid myoclonus Poor motor coordination Lipodystrophy Cirrhosis Hepatic steatosis Sleep disturbance Insulin resistance Generalized hirsutism Acanthosis nigricans Hyperinsulinemia Mental deterioration Brisk reflexes Reduced subcutaneous adipose tissue Limb dystonia Loss of speech Generalized lipodystrophy Progressive psychomotor deterioration Caudate atrophy Abnormal pyramidal sign Coarse facial features Absence seizures with eyelid myoclonia Protuberant abdomen Dysphagia Rigidity Apnea Ophthalmoplegia Esotropia Aspiration Oculomotor apraxia Trismus Hyperactivity Bulbar signs Recurrent aspiration pneumonia Cognitive impairment Delayed speech and language development Hypertension Tremor Myopathy Hypomethioninemia


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