Hepatomegaly, and Epileptic encephalopathy

Diseases related with Hepatomegaly and Epileptic encephalopathy

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

Top matches:

Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

High match ALG13-CDG

ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).

ALG13-CDG Is also known as cdg syndrome type is|congenital disorder of glycosylation type is|cdg1s|cdg-is|congenital disorder of glycosylation type 1s

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALG13-CDG

Other less relevant matches:

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

High match ALG9-CDG

ALG9-CDG is a form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis (see this term). The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

ALG9-CDG Is also known as cdg syndrome type il|cdg-il|carbohydrate deficient glycoprotein syndrome type 1l|cdg il|cdgil|congenital disorder of glycosylation type 1l|cdg1l|mannosyltransferase 7-9 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG9-CDG

High match PMM2-CDG

PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.

PMM2-CDG Is also known as jaeken syndrome|cdg-ia|cdg ia|cdg syndrome type ia|cdg1a|carbohydrate-deficient glycoprotein syndrome, type ia, formerly|carbohydrate deficient glycoprotein syndrome type ia|congenital disorder of glycosylation type 1a|phosphomannomutase 2 deficiency|cdgi

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PMM2-CDG

Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

High match BETA-MANNOSIDOSIS

Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

BETA-MANNOSIDOSIS Is also known as beta-mannosidase deficiency|beta-mannosidosis|lysosomal beta-mannosidase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BETA-MANNOSIDOSIS

3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.

3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY Is also known as hmgcs2 deficiency|hmg-coa synthase deficiency|mitochondrial hmg-coa synthase deficiency

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Vomiting
  • Diarrhea
  • Abnormality of metabolism/homeostasis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY

COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT Is also known as syndromic sensorineural deafness due to coxpd|syndromic sensorineural hearing loss due to coxpd

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT

Top 5 symptoms//phenotypes associated to Hepatomegaly and Epileptic encephalopathy

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Encephalopathy Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Vomiting Failure to thrive Hearing impairment Cerebral atrophy Flexion contracture Myoclonus Peripheral neuropathy Ataxia Abnormal facial shape Muscular hypotonia Feeding difficulties Lactic acidosis Hepatic failure Delayed myelination Developmental regression Cerebellar atrophy Respiratory failure Abnormality of the eye Elevated hepatic transaminase Cerebral cortical atrophy Micronodular cirrhosis Hepatic steatosis Decreased liver function Hypertelorism Nystagmus Cirrhosis Cognitive impairment Cerebral visual impairment Absent speech Cardiomyopathy Increased serum lactate Optic atrophy Long philtrum Spasticity Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Generalized tonic-clonic seizures Abnormality of the liver Growth delay Retrognathia Hyperactivity Pneumonia Micrognathia Type I transferrin isoform profile Infantile spasms Global brain atrophy Abnormality of metabolism/homeostasis Clumsiness Coma Hyperreflexia Gliosis Lipodystrophy Muscular hypotonia of the trunk Hypergonadotropic hypogonadism Hypogonadism Cerebellar hypoplasia Diarrhea Skeletal muscle atrophy Muscle weakness Nonimmune hydrops fetalis Central hypotonia Inverted nipples Pericardial effusion Esotropia Brain atrophy Wide mouth Hepatosplenomegaly Brachycephaly Short nose Kyphosis Atrial septal defect Coarse facial features Phonic tics Tics Hepatic fibrosis Generalized-onset seizure Neuronal loss in central nervous system Hypsarrhythmia Dysphagia Abnormality of eye movement Hypertrophic cardiomyopathy Hypoglycemia Short neck Hypoplasia of the corpus callosum Renal cyst Renal insufficiency Breech presentation Areflexia Poor head control Hyporeflexia Acidosis Microvesicular hepatic steatosis Abnormality of extrapyramidal motor function Low-set ears Lethargy Delayed speech and language development Neonatal hypotonia Visual impairment Recurrent infections Respiratory distress Anteverted nares Anemia Macrocephaly Micropenis Cleft palate Ichthyosis Abnormal subcutaneous fat tissue distribution Aspartylglucosaminuria Hyperplastic labia majora Increased urinary disaccharide excretion Hypoplasia of the abdominal wall musculature High palate Narrow mouth Stroke Posteriorly rotated ears Apnea Upslanted palpebral fissure Malar flattening Patent ductus arteriosus Olivopontocerebellar hypoplasia Obesity Polyhydramnios Hypocholesterolemia Reduced factor XI activity Prolonged partial thromboplastin time Pigmentary retinopathy Nephrotic syndrome Amblyopia Insulin resistance Truncal ataxia Hypoalbuminemia Premature ovarian insufficiency IgA deficiency Atrophy/Degeneration affecting the brainstem Thrombocytosis Congenital sensorineural hearing impairment Pancytopenia IgG deficiency Sensorineural hearing impairment Reduced antithrombin III activity Hypoglycemic coma Stroke-like episode Respiratory arrest Olivopontocerebellar atrophy Prolonged prothrombin time Hypoketotic hypoglycemia Proximal tubulopathy Wide nose Diffuse mesangial sclerosis Pontocerebellar atrophy Recurrent hypoglycemia Abnormality of the amniotic fluid Congenital nephrotic syndrome Short distal phalanx of finger Unsteady gait Downturned corners of mouth Narrow palpebral fissure Epileptic spasms Pierre-Robin sequence Impulsivity Stridor Cardiorespiratory arrest Laryngomalacia High anterior hairline Developmental stagnation Seborrheic dermatitis Peripheral demyelination Hemoglobinuria Duplicated collecting system Triangular mouth Spastic tetraparesis Alveolar ridge overgrowth Pendular nystagmus Olfactory lobe agenesis Birth length greater than 97th percentile Abnormality of the pons Dysarthria Tremor Ventriculomegaly Dilatation Intention tremor Babinski sign Spastic tetraplegia Recurrent respiratory infections Aggressive behavior Attention deficit hyperactivity disorder Neurological speech impairment Neurodevelopmental delay Absent septum pellucidum Hemolytic anemia Multicystic kidney dysplasia Generalized myoclonic seizures Sepsis Lower limb muscle weakness Webbed neck Microdontia Overgrowth Limb undergrowth Small nail Inflammatory abnormality of the skin Large fontanelles Tortuosity of conjunctival vessels Postnatal microcephaly Tall stature Gingival overgrowth Widely spaced teeth Proximal amyotrophy Deep philtrum Angiokeratoma corporis diffusum Elevated alkaline phosphatase Redundant skin Scaling skin Urinary glycosaminoglycan excretion Angiokeratoma Thenar muscle atrophy Overfolded helix Subcortical cerebral atrophy Demyelinating peripheral neuropathy Large for gestational age Prominent occiput Communicating hydrocephalus Vesicoureteral reflux Ethylmalonic aciduria Polyneuropathy Abnormality of lateral ventricle Abnormal pyramidal sign Small hand Sleep disturbance Abnormal bleeding Decreased body weight Horizontal nystagmus Short chin Microretrognathia Adducted thumb Poor eye contact Self-mutilation Abnormality of brain morphology Short stature Autism Motor delay Fever Intrauterine growth retardation Blindness Hypertonia Visual loss Dementia Jaundice Rigidity Paralysis Abnormality of movement Peripheral axonal neuropathy Neurodegeneration EEG abnormality Intellectual disability, severe Focal-onset seizure Renal hypoplasia Dilated cardiomyopathy Leukodystrophy Malnutrition Hyperglycinemia Decreased activity of mitochondrial respiratory chain Decreased activity of the pyruvate dehydrogenase complex Nonketotic hyperglycinemia Hypertension Respiratory insufficiency Myopathy Arthrogryposis multiplex congenita Abnormality of the foot Pachygyria Hydrocephalus Renal dysplasia Fasciculations Severe muscular hypotonia CNS hypomyelination Chronic kidney disease Failure to thrive in infancy Hyponatremia Hyperkalemia Renal tubular acidosis Hypoventilation Increased CSF lactate Tongue fasciculations Scoliosis Aciduria Memory impairment Retinal degeneration Cutis marmorata Delayed skeletal maturation Skeletal dysplasia Abnormal cardiac septum morphology Hip dislocation Poor speech Ascites Asthma Wide intermamillary distance Decreased fetal movement Broad thumb Hydrops fetalis Tricuspid regurgitation Aplasia cutis congenita Frontal bossing Delayed CNS myelination Strabismus Rod-cone dystrophy Prominent forehead Hypothyroidism Macrotia Kyphoscoliosis Osteopenia Thin upper lip vermilion Proteinuria Abnormality of the nervous system Feeding difficulties in infancy Severe global developmental delay Edema Cerebral cortical neurodegeneration Hepatitis Progressive spasticity Status epilepticus Hemiparesis Progressive neurologic deterioration Choreoathetosis Cholestasis Paraparesis Spastic paraparesis Intellectual disability, progressive Abnormality of vision Slurred speech Encephalitis Akinesia Spastic diplegia Celiac disease Epilepsia partialis continua Abnormality of visual evoked potentials Progressive encephalopathy Increased CSF protein Severe failure to thrive Fetal akinesia sequence Gastrointestinal dysmotility Astrocytosis Bile duct proliferation 3-Methylglutaconic aciduria Gastric ulcer Chronic hepatitis Multifocal seizures Cerebral degeneration Primary adrenal insufficiency


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