Hepatomegaly, and Autistic behavior

Diseases related with Hepatomegaly and Autistic behavior

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

Top matches:

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3 Is also known as naga deficiency type 3|schindler disease type 3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3

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

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

Other less relevant matches:

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1|naga deficiency type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

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

Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (OMIM ), short-chain acyl-CoA dehydrogenase deficiency (OMIM ), and very long-chain acyl-CoA dehydrogenase deficiency.VLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting (Andresen et al., 1999).Patients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency (Strauss et al., 1995; Roe and Ding, 2001).

ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD Is also known as vlcad deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD

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

Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Medium match RETT SYNDROME

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about RETT SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Autistic behavior

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Autism Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertrophic cardiomyopathy Microcephaly Encephalopathy Nystagmus Vomiting Failure to thrive Cerebral visual impairment Feeding difficulties Respiratory insufficiency Spasticity Neoplasm Muscular hypotonia Strabismus Lethargy

Rare Symptoms - Less than 30% cases

Muscle stiffness Cardiac arrest Sudden cardiac death Hepatic steatosis Optic atrophy Myalgia Myopathy Hemiplegia/hemiparesis Developmental regression Intellectual disability, severe Hyperammonemia Tachypnea Intellectual disability Decreased plasma carnitine Metabolic acidosis Tetraplegia Ataxia Hypertonia Motor delay Growth delay Delayed speech and language development Decreased liver function Hypoglycemia Dicarboxylic aciduria Acidosis Hyperactivity Behavioral abnormality Enlarged kidney Hepatocellular necrosis Exercise-induced rhabdomyolysis Exercise-induced myoglobinuria Nonketotic hypoglycemia Cardiomyopathy Arrhythmia Leukopenia Hearing impairment Ventriculomegaly Splenomegaly Dystonia Hypoplasia of the corpus callosum Irritability Clinodactyly Poor eye contact Thrombocytopenia Delayed myelination Agenesis of corpus callosum Pneumonia Muscular hypotonia of the trunk Lactic acidosis Increased serum lactate Small hand Bradykinesia Cholestasis Global brain atrophy Hypokinesia Progressive encephalopathy Increased CSF lactate Fulminant hepatic failure Basal ganglia cysts Intrauterine growth retardation Depressed nasal bridge Hyperreflexia Hemihypertrophy Abnormality of the face Abnormality of the outer ear Nephroblastoma Large for gestational age Abnormality of the ureter Neonatal hypoglycemia Nevus flammeus Diastasis recti Visceromegaly Epicanthus Rhabdomyosarcoma Abdominal wall defect Anterior creases of earlobe Embryonal neoplasm Auricular pit Low-set ears High palate Respiratory distress Fever Macrocephaly Alopecia Diarrhea Stereotypy Clinodactyly of the 5th finger Cerebral cortical atrophy Macrotia EEG abnormality Joint stiffness Arthrogryposis multiplex congenita Abnormality of movement Apraxia Arnold-Chiari malformation Abnormality of the dentition Abnormality of the metacarpal bones Self-injurious behavior Decreased muscle mass Dysphasia Abnormality of the skull Acrocyanosis Abnormality of the antihelix Narrow foot Depressivity Scoliosis Microphthalmia Aspiration Cerebral atrophy Overgrowth Weight loss Coloboma Iris coloboma Cataract Febrile seizures Spastic tetraplegia Delayed gross motor development Short stature Breast carcinoma Hypoventilation Aspiration pneumonia Diffuse cerebral atrophy Stomatitis Recurrent aspiration pneumonia Reduced dihydropyrimidine dehydrogenase activity Uraciluria Omphalocele Polyhydramnios Premature birth Anemia Aplasia/Hypoplasia of the cerebellum Recurrent infections Generalized amyotrophy Telangiectasia of the skin Abnormality of brainstem morphology Immunodeficiency Blindness Generalized muscle weakness Telangiectasia L-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria Inspiratory stridor EMG: myopathic abnormalities Prolonged QT interval Prolonged neonatal jaundice Fatigable weakness Hypothermia Lymphedema Abnormality of extrapyramidal motor function Stridor Increased body weight Recurrent bacterial infections Anisocytosis Poikilocytosis Extramedullary hematopoiesis Giant platelets Congenital neutropenia Myelofibrosis Increased bone mineral density Sensory neuropathy Neutropenia Peripheral neuropathy Abnormality of the nervous system Myoclonus Hyperkeratosis Abnormal pyramidal sign Paresthesia Vertigo Atrial flutter Apathy Macroglossia Cleft palate Rhabdomyolysis Drowsiness Myoglobinuria Cardiorespiratory arrest Hypoketotic hypoglycemia Exercise-induced myalgia Respiratory arrest Cryptorchidism Exercise intolerance Ventricular septal defect Abnormal heart morphology Inguinal hernia Micropenis Increased antibody level in blood Umbilical hernia Abnormality of the kidney Facial asymmetry Pericardial effusion Cerebellar hypoplasia Poor suck Atrial septal defect Optic nerve hypoplasia Severe muscular hypotonia Postnatal microcephaly Elevated creatine kinase after exercise Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Mild expressive language delay Pain Aciduria Congestive heart failure Cardiomegaly Dolichocephaly Elevated serum creatine phosphokinase Apnea Hepatosplenomegaly Dyspnea Dilated cardiomyopathy Coma Muscle cramps Thin fingernail


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