Hepatomegaly, and Hypertonia

Diseases related with Hepatomegaly and Hypertonia

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Hypertonia 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

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

Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4 Is also known as coxpd4

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4

Other less relevant matches:

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 8; JBTS8

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 59; RP59

A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and eyes, recurrent infections, neutropenia, and immune system abnormalities. Patients are prone to develop hemophagocytic lymphohistiocytosis.

GRISCELLI SYNDROME TYPE 2 Is also known as hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|griscelli-pruni√Čras syndrome type 2

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Hypertonia
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 2

Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

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

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

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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Hypertonia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Respiratory distress Splenomegaly Ataxia Muscular hypotonia Growth delay Respiratory failure Optic atrophy Developmental regression Hyperreflexia

Rare Symptoms - Less than 30% cases

Progressive neurologic deterioration Encephalopathy Muscular hypotonia of the trunk Lactic acidosis Hepatic failure Leukodystrophy Gait ataxia Absent speech Jaundice Pigmentary retinopathy Oculomotor apraxia Hepatosplenomegaly Failure to thrive Cryptorchidism Feeding difficulties Edema Intrauterine growth retardation Fever Status epilepticus Strabismus Anemia Renal insufficiency Thrombocytopenia Lethargy Nausea and vomiting Neutropenia Hyperammonemia Ventriculomegaly Dysmetric saccades Cerebral calcification Congenital cataract Abnormality of the cerebral white matter Abnormality of the kidney Polydactyly Cerebellar hypoplasia Dilatation Cataract Stuttering Abnormality of the liver Generalized limb muscle atrophy Progressive cerebellar ataxia Sensory impairment Distal muscle weakness Saccadic smooth pursuit Paresthesia Distal sensory impairment Distal lower limb muscle weakness Acute hepatic failure Progressive gait ataxia Cerebellar vermis atrophy Foot dorsiflexor weakness Sensorimotor neuropathy Hepatic fibrosis Frequent falls Intention tremor Nystagmus Ectopic kidney Postnatal microcephaly Decreased activity of mitochondrial respiratory chain Bulbar signs Trismus Protuberant abdomen Aspiration Esotropia Ophthalmoplegia Apnea Rigidity Cerebral atrophy Dysphagia Nonketotic hyperglycinemia Decreased activity of the pyruvate dehydrogenase complex Hyperglycinemia Hyporeflexia Malnutrition Poor head control Abnormality of extrapyramidal motor function Epileptic encephalopathy Dilated cardiomyopathy Hypertrophic cardiomyopathy Myoclonus Vomiting Cardiomyopathy Visual impairment Flexion contracture Cystic renal dysplasia Reduced visual acuity Skeletal muscle atrophy Intellectual disability, mild Progressive encephalopathy Hearing impairment Undetectable electroretinogram Hyperventilation Occipital encephalocele Molar tooth sign on MRI Dystonia Encephalocele Optic disc pallor Abnormality of eye movement Abnormality of the eye Obesity Abnormality of brain morphology Opisthotonus Abnormality of movement Coma Increased serum lactate Premature birth Metabolic acidosis Polymicrogyria Sepsis Chorea Choreoathetosis Pancreatitis Neonatal hypotonia Acidosis Hemiplegia/hemiparesis Renal tubular dysfunction Sensorineural hearing impairment Neurological speech impairment Cerebellar atrophy Petechiae Talipes equinovarus Tremor Microcephaly Abnormality of metabolism/homeostasis Peripheral neuropathy Motor delay Muscle weakness Partial albinism Hemophagocytosis Pulmonary infiltrates Iris hypopigmentation Hypopigmentation of hair Premature graying of hair Blindness Hyperlipidemia Pancytopenia Lymphadenopathy Immunodeficiency Cerebral cortical atrophy EEG abnormality Cystoid macular edema Macular edema Attenuation of retinal blood vessels Retinal degeneration Elevated hepatic transaminase Micropenis Rod-cone dystrophy Recurrent aspiration pneumonia


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