Hepatomegaly, and Dementia

Diseases related with Hepatomegaly and Dementia

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

Top matches:

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene (OMIM ), referred to as type C1 (OMIM ); 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2. The clinical manifestations of types C1 (OMIM ) and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C2; NPC2

A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

Other less relevant matches:

The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Dementia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Progressive neurologic deterioration Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Dysarthria

Uncommon Symptoms - Between 30% and 50% cases

Neurodegeneration

Common Symptoms - More than 50% cases

Splenomegaly

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Peripheral neuropathy Paralysis Hepatosplenomegaly Abnormality of movement Dystonia Dysphagia Memory impairment Cognitive impairment Hyperactivity Hyperreflexia Behavioral abnormality Athetosis Spasticity Gait disturbance Neuronal loss in central nervous system Mental deterioration Psychosis Pneumonia Thrombocytopenia Encephalopathy Emotional lability Tremor Intrauterine growth retardation Chorea Microcephaly Motor delay Limb ataxia Sleep disturbance Short stature Coarse facial features Abnormality of the cerebral white matter Rigidity Cerebral atrophy Cirrhosis Visceromegaly Growth delay Supranuclear gaze palsy Dyskinesia Failure to thrive Clumsiness Choreoathetosis Sea-blue histiocytosis Urinary incontinence Muscular hypotonia Generalized hypotonia

Rare Symptoms - Less than 30% cases

Delayed speech and language development Diarrhea Cardiomegaly Optic atrophy Visual loss Acidosis Retinal degeneration Neurological speech impairment Myoclonus Orofacial dyskinesia Tics Coma Aciduria Paraparesis Bipolar affective disorder Spastic paraparesis Restlessness Developmental regression Jaundice Cerebellar atrophy Joint stiffness Tetraplegia Heparan sulfate excretion in urine Dysmetria Abnormality of the liver Gait ataxia Gliosis Progressive cerebellar ataxia Schizophrenia Slurred speech Dense calvaria Ovoid thoracolumbar vertebrae Thickened ribs Asymmetric septal hypertrophy Cerebral cortical atrophy Dysostosis multiplex Coarse hair Recurrent upper respiratory tract infections Hirsutism Blindness Synophrys Progressive encephalopathy Corneal opacity Abnormal pyramidal sign Spastic tetraplegia 3-Methylglutaconic aciduria Generalized tonic-clonic seizures Hyperhidrosis Anemia Foam cells in visceral organs and CNS Dilated cardiomyopathy Elevated hepatic transaminase Fetal ascites Bone-marrow foam cells Muscle weakness Cardiomyopathy Confusion Myopathy Hypertonia Neurofibrillary tangles Depressivity Cataplexy Babinski sign Loss of speech Vertical supranuclear gaze palsy Areflexia Abnormality of the eye Abnormal cholesterol homeostasis Low cholesterol esterification rates Respiratory failure Parkinsonism Oral-pharyngeal dysphagia Generalized-onset seizure Prolonged neonatal jaundice Bradykinesia Macroglossia Respiratory tract infection Episodic abdominal pain Orthostatic hypotension Fasciculations Impotence Bile duct proliferation Microvesicular hepatic steatosis Micronodular cirrhosis Chronic diarrhea Gastric ulcer Hemiplegia Hypohidrosis Retrognathia Chronic hepatitis Intention tremor Ophthalmoplegia Ethylmalonic aciduria Bruising susceptibility Epilepsia partialis continua Phonic tics Ascites Cerebral degeneration Multifocal seizures Oligohydramnios Mitral valve prolapse Intellectual disability, profound Dysphonia Recurrent respiratory infections Trismus Head tremor Spastic dysarthria Aplasia/Hypoplasia of the abdominal wall musculature Foam cells Supranuclear ophthalmoplegia Rapid neurologic deterioration Congenital thrombocytopenia Fatal liver failure in infancy Skeletal muscle atrophy Gastrointestinal dysmotility Macrocephaly Astrocytosis Spastic diplegia Fetal akinesia sequence Hepatic failure Severe global developmental delay Spastic paraplegia Paraplegia Unsteady gait Metabolic acidosis Neutropenia Focal-onset seizure Increased serum lactate Febrile seizures Progressive visual loss Brain atrophy Lactic acidosis Gastroesophageal reflux Spastic tetraparesis Leukoencephalopathy Short attention span Abnormality of the basal ganglia Peripheral axonal neuropathy Nonprogressive cerebellar ataxia Testicular dysgenesis Hyperchloremic acidosis Progressive forgetfulness Micrognathia Feeding difficulties Fever Hypoglycemia Epileptic encephalopathy Severe failure to thrive Intellectual disability, progressive Increased CSF protein Megalencephaly Abnormality of visual evoked potentials Celiac disease Progressive spasticity Vomiting Motor deterioration Akinesia Encephalitis Abnormality of vision Upper motor neuron dysfunction Progressive psychomotor deterioration Recurrent infections Cerebral visual impairment Decreased liver function Cherry red spot of the macula Hepatic fibrosis Cholestasis Hemiparesis Status epilepticus Abnormality of glycosphingolipid metabolism Hepatitis Impaired thermal sensitivity Nystagmus Cataract Skeletal myopathy Hypertension Skin rash Sensorimotor neuropathy Elevated serum creatine phosphokinase Dyspnea Anxiety Lower limb muscle weakness Paresthesia Hemolytic anemia Sensory neuropathy Atrial fibrillation Involuntary movements Left ventricular hypertrophy Hallucinations Cardiac arrest Congestive heart failure Sleep apnea Ventricular arrhythmia Obsessive-compulsive behavior Personality changes Ventricular fibrillation Sensory axonal neuropathy Bowel incontinence Rhabdomyolysis Impaired vibration sensation in the lower limbs Impaired pain sensation Insomnia Ventricular extrasystoles Arrhythmia Elevated serum acid phosphatase Motor axonal neuropathy Abnormal bleeding Respiratory insufficiency Abnormal lung morphology Stereotypy Aphasia Interstitial pulmonary abnormality Perseveration Motor aphasia Edema Retinopathy Leukemia Hypopigmentation of the skin Hypertriglyceridemia Absent axillary hair Subcutaneous nodule Hyperpigmentation of the skin Cafe-au-lait spot Purpura Petechiae Autoimmune thrombocytopenia Blepharitis Pulmonary infiltrates Histiocytosis Mucopolysacchariduria Chronic myelogenous leukemia Mediastinal lymphadenopathy Left bundle branch block Supraventricular tachycardia Abnormality of the nervous system Pseudohypoparathyroidism Broad-based gait Muscle stiffness Dysdiadochokinesis Mask-like facies Abnormality of neuronal migration Basal ganglia calcification Frontotemporal dementia Lewy bodies Abnormal lower motor neuron morphology Calcinosis Focal dystonia Alcoholism Cerebral calcification Mood swings Subcutaneous hemorrhage Limb dysmetria Focal motor seizures Micrographia Progressive choreoathetosis Pill-rolling tremor Calcification of the small brain vessels Dense calcifications in the cerebellar dentate nucleus Aggressive behavior Protuberant abdomen Neonatal hypotonia Abnormality of extrapyramidal motor function Abnormal cerebellum morphology Acanthocytosis Blood group antigen abnormality Excessive salivation Hyporeflexia of lower limbs Increased muscle fatiguability Personality disorder Generalized limb muscle atrophy Impaired temperature sensation Abnormal social behavior Abnormal lactate dehydrogenase activity Caudate atrophy Abnormal corpus striatum morphology Recurrent singultus Abnormal facial expression Postural instability Hyporeflexia of upper limbs Abnormality of the astrocytes Intellectual disability, severe Split hand Growth abnormality Thickened calvaria Central nervous system degeneration Pain Fatigue Ventriculomegaly Headache Vertigo Cerebral cortical neurodegeneration


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