Hepatomegaly, and Leukodystrophy

Diseases related with Hepatomegaly and Leukodystrophy

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

Top matches:

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

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

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

Other less relevant matches:

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

MULTIPLE SULFATASE DEFICIENCY Is also known as sulfatidosis, juvenile, austin type|mucosulfatidosis|juvenile sulfatidosis, austin type|msd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE SULFATASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Leukodystrophy

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Neonatal hypotonia Splenomegaly Developmental regression Hepatosplenomegaly Encephalopathy Optic atrophy Muscular hypotonia Ataxia Growth delay Sensorineural hearing impairment Short stature Failure to thrive Hearing impairment Peripheral demyelination Intellectual disability Microcephaly Low-set ears Spastic tetraplegia Cerebellar atrophy Dystonia Severe global developmental delay Pneumonia Cerebral atrophy Elevated hepatic transaminase Intellectual disability, severe Myoclonus Vomiting Tetraplegia Respiratory distress Hypertonia Respiratory failure Acidosis Lactic acidosis Abnormality of the cerebral white matter Wide nasal bridge Visual impairment

Rare Symptoms - Less than 30% cases

Cerebral calcification CNS hypomyelination Portal hypertension Depressed nasal bridge Abnormality of the skeletal system Epicanthus Abnormal facial shape Cataract Motor delay Macrocephaly Strabismus Thrombocytopenia CSF lymphocytic pleiocytosis Ichthyosis Hydrocephalus Lymphocytosis Anteverted nares Atrophy/Degeneration affecting the brainstem Brain atrophy Delayed speech and language development Skin rash Feeding difficulties Convex nasal ridge Progressive microcephaly High palate Ventriculomegaly Respiratory insufficiency Irritability Hyperreflexia Retinopathy Arrhythmia Myopia Fever Hypertension Anemia Retinal degeneration Malnutrition Jaundice Poor head control Abnormality of extrapyramidal motor function Cirrhosis Cardiomyopathy Absent speech Dysphagia Intrauterine growth retardation Hepatic fibrosis Muscular hypotonia of the trunk Hyperammonemia Hepatic failure CNS demyelination Increased serum lactate Progressive encephalopathy Metabolic acidosis Abdominal pain Telecanthus Abnormality of the nervous system Cryptorchidism Decreased lacrimation Hypogonadism Pes cavus Constipation Hyporeflexia Distal muscle weakness Peripheral neuropathy Areflexia Peripheral hypomyelination White eyebrow Cerebral dysmyelination Distal sensory impairment Aganglionic megacolon Hypohidrosis Underdeveloped nasal alae Abnormal autonomic nervous system physiology Spastic paraparesis Torticollis Hypopigmented skin patches Anosmia Decreased nerve conduction velocity Intestinal obstruction Premature graying of hair Coma Hypopigmentation of the skin Congenital nystagmus Distal amyotrophy Abnormal pyramidal sign Hypopigmentation of hair Arthrogryposis multiplex congenita Abnormal eyebrow morphology Blue irides Heterochromia iridis Prominent nasal bridge White hair Demyelinating peripheral neuropathy White forelock Ileus Intestinal pseudo-obstruction Alacrima White eyelashes Microcolon Spotty hyperpigmentation High forehead Meconium ileus Abnormality of retinal pigmentation Very long chain fatty acid accumulation Elevated levels of phytanic acid Prominent forehead Coarse facial features Mental deterioration Joint stiffness Corneal opacity Smooth philtrum Dysmetria Flat face Thick eyebrow Neurodegeneration Progressive neurologic deterioration Broad thumb Coarse hair Hyperoxaluria Olivopontocerebellar atrophy Urinary glycosaminoglycan excretion Retrocerebellar cyst Hypoplastic vertebral bodies Mucopolysacchariduria Abnormality of peripheral nerve conduction Periorbital edema Broad hallux phalanx Broad hallux Developmental stagnation Large forehead Dysostosis multiplex Increased CSF protein Abnormality of the periventricular white matter Lower limb hyperreflexia Progressive spinal muscular atrophy Hypocholesterolemia Hypoplasia of the cochlea Postnatal growth retardation Neonatal asphyxia Myelin outfoldings Hypoplasia of the semicircular canal Absent brainstem auditory responses Dysmyelinating leukodystrophy Long-segment aganglionic megacolon Spasmus nutans Skeletal muscle atrophy Behavioral abnormality Midface retrusion Rod-cone dystrophy Osteoporosis No social interaction Facial palsy Respiratory tract infection Epiphyseal stippling Abnormality of epiphysis morphology Severe hearing impairment Constriction of peripheral visual field Impulsivity Spinal muscular atrophy Progressive muscle weakness Rhizomelia Nephrolithiasis Nyctalopia Large fontanelles Abnormality of the face Esotropia Renal cyst Congenital cataract Dolichocephaly Diffuse hepatic steatosis Diffuse cerebral atrophy Abnormality of nervous system morphology Hypoglycemia Acute hepatic failure Esophageal varix Foam cells Hyperlipoproteinemia Vacuolated lymphocytes Low-grade fever Periportal fibrosis Bone-marrow foam cells Adrenal calcification Dysarthria Congestive heart failure Renal insufficiency Clonus Protuberant abdomen Tachypnea Athetosis Renal tubular acidosis Ketoacidosis Periventricular leukomalacia Dysgraphia Hyperalaninemia Increased serum pyruvate Cystinuria Proximal renal tubular acidosis Increased head circumference Necrotizing encephalopathy Periventricular cysts Abnormality of lipid metabolism Steatorrhea Congenital lactic acidosis Diarrhea Polymicrogyria Premature birth Opisthotonus Abnormality of brain morphology Flexion contracture Hypertrophic cardiomyopathy Dilated cardiomyopathy Lethargy Epileptic encephalopathy Hyperglycinemia Decreased activity of mitochondrial respiratory chain Decreased activity of the pyruvate dehydrogenase complex Nonketotic hyperglycinemia Hernia Cachexia Weight loss Umbilical hernia Scarring Malabsorption Hepatic steatosis Ascites Abdominal distention Pulmonary arterial hypertension Hypertriglyceridemia Increased body weight Atherosclerosis Hyperlipidemia Hypercholesterolemia Chronic metabolic acidosis Neuronal loss in the cerebral cortex Tapetoretinal degeneration Brachycephaly Multiple gastric polyps Chilblains Chronic CSF lymphocytosis Deep white matter hypodensities Increased CSF interferon alpha Hypertelorism Gait disturbance Frontal bossing Hypoplasia of the corpus callosum Blindness Abnormality of metabolism/homeostasis Babinski sign Polydactyly CSF pleocytosis Osteopenia EEG abnormality Neurological speech impairment Hypodontia Pigmentary retinopathy Generalized-onset seizure Bilateral sensorineural hearing impairment Intellectual disability, progressive Abnormal electroretinogram Hand polydactyly Inverted nipples Abnormality of visual evoked potentials Decreased light- and dark-adapted electroretinogram amplitude Autoamputation Vegetative state Tremor Feeding difficulties in infancy Apnea Paralysis Pruritus Pancytopenia Bradycardia Muscle stiffness Leukopenia Facial paralysis Dilatation Recurrent infections Agenesis of corpus callosum Glaucoma Cerebral cortical atrophy Hepatitis Morphological abnormality of the pyramidal tract Intellectual disability, profound Postnatal microcephaly Leukoencephalopathy Cerebral palsy Encephalitis Systemic lupus erythematosus Spastic diplegia Petechiae Congenital glaucoma Prolonged neonatal jaundice Basal ganglia calcification Episodic fever Acrocyanosis Rapid neurologic deterioration


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