Hepatomegaly, and Psychosis

Diseases related with Hepatomegaly and Psychosis

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

Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

HEREDITARY COPROPORPHYRIA Is also known as cpox deficiency|cpx deficiency|coproporphyrinogen oxidase deficiency|cpo deficiency

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Hypertension


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY COPROPORPHYRIA

CITRULLINEMIA, CLASSIC Is also known as ass deficiency|argininosuccinate synthetase deficiency|citrullinemia, type i|ctln1|citrullinuria

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CITRULLINEMIA, CLASSIC

Other less relevant matches:

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

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

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

Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.

CLASSIC HOMOCYSTINURIA Is also known as cystathionine beta-synthase deficiency|homocystinuria due to cystathionine beta-synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Cataract
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC HOMOCYSTINURIA

Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

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

Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOREOACANTHOCYTOSIS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Psychosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Paralysis Mental deterioration Hepatosplenomegaly Dementia Progressive neurologic deterioration Behavioral abnormality Dysarthria Cognitive impairment Global developmental delay Hypertension Gait disturbance Skeletal muscle atrophy Depressivity Tremor Generalized hypotonia Neurodegeneration Muscular hypotonia Dystonia Dysphagia Hyperreflexia Jaundice Fatigue Thrombocytopenia Spasticity Abnormality of movement Respiratory insufficiency Neurological speech impairment Elevated hepatic transaminase Diarrhea Vomiting Feeding difficulties Nausea and vomiting Anemia Dyskinesia Peripheral neuropathy Pain Prolonged neonatal jaundice Cirrhosis Chorea Neuronal loss in central nervous system Supranuclear gaze palsy Athetosis

Rare Symptoms - Less than 30% cases

Recurrent respiratory infections Respiratory distress Cerebral cortical atrophy Pes cavus Elevated serum creatine phosphokinase Myopathy Headache Encephalopathy Myopia Visual loss Ascites Coma Aciduria Hyperammonemia Slurred speech Abnormality of the coagulation cascade Oroticaciduria Protein avoidance Abnormality of the eye Hypertrophic cardiomyopathy Developmental regression Abnormality of the liver Memory impairment Abnormality of the nervous system Progressive choreoathetosis Subcutaneous hemorrhage Cataract Orofacial dyskinesia Osteoporosis Emotional lability Schizophrenia Clumsiness Recurrent fractures Urinary incontinence Limb muscle weakness Gliosis Parkinsonism Postural instability Generalized tonic-clonic seizures Abnormal pyramidal sign Ventriculomegaly Short stature Malabsorption Abnormal bleeding Generalized amyotrophy Cardiomegaly Intrauterine growth retardation Sleep disturbance Motor delay Low cholesterol esterification rates Hallucinations Metabolic acidosis Nausea Confusion Failure to thrive Anxiety Acidosis Abdominal pain Areflexia Arrhythmia Abnormal cholesterol homeostasis Insomnia Foam cells in visceral organs and CNS Sea-blue histiocytosis Fetal ascites Bone-marrow foam cells Cataplexy Vertical supranuclear gaze palsy Visceromegaly Loss of speech Neurofibrillary tangles Oral-pharyngeal dysphagia Bradykinesia Orthostatic hypotension Irritability Impotence Amblyopia Arachnodactyly Lymphadenopathy Retinal detachment Phonic tics Sensory neuropathy Gastrointestinal hemorrhage Sparse scalp hair Dental crowding Aggressive behavior Weight loss Generalized muscle weakness Hyporeflexia Caudate atrophy Involuntary movements Vasculitis Genu valgum Anorexia Abnormality of retinal pigmentation Cerebral atrophy Distal upper limb muscle weakness Nystagmus EMG abnormality Venous thrombosis Urticaria Abnormal erythrocyte morphology Impaired thermal sensitivity Drooling Difficulty in tongue movements Intracranial hemorrhage Ectopia lentis Abnormality of eye movement Pectus carinatum Disproportionate tall stature Foam cells Tetraplegia Oligohydramnios Mitral valve prolapse Spastic tetraplegia Square-wave jerks Intellectual disability, profound Abnormality of the foot Subcortical dementia Intention tremor Dysphonia Trismus Head tremor Spastic dysarthria Aplasia/Hypoplasia of the abdominal wall musculature Progressive distal muscular atrophy Joint stiffness High palate Glaucoma Pallor Pectus excavatum Hernia Kyphosis Optic atrophy Abnormality of urine homeostasis Supranuclear ophthalmoplegia Hair-pulling Scoliosis Fatal liver failure in infancy Attention deficit hyperactivity disorder Congenital thrombocytopenia Rapid neurologic deterioration Hemiplegia/hemiparesis Pulmonary embolism Hemiplegia Tics Ornithinuria Argininuria Asterixis Hearing impairment Abnormal urinary color Macrocephaly Blindness Babinski sign Progressive psychomotor deterioration Muscle fiber atrophy Dysgraphia Upper motor neuron dysfunction Hyperhidrosis Disinhibition Acanthocytosis Cherry red spot of the macula Megalencephaly Self-injurious behavior Fasciculations Hypohidrosis Episodic abdominal pain Chronic diarrhea Personality changes Macroglossia Coarse facial features Abnormality of the thyroid gland Protruding tongue Motor deterioration Self-mutilation Respiratory tract infection Acute hepatic failure Pulmonary hemorrhage Alveolar proteinosis Arteriovenous malformation Increased serum lactate Esophageal varix Cerebral ischemia Arterial thrombosis Abnormality of amino acid metabolism Abetalipoproteinemia Intellectual disability, severe Renal insufficiency Delayed skeletal maturation Osteopenia Sparse hair Abnormality of vision Stage 5 chronic kidney disease Abnormality of glycosphingolipid metabolism Brain atrophy Fine hair Psychotic episodes Malnutrition Hyperlysinuria Micronodular cirrhosis Hemophagocytosis Increased serum ferritin Glomerulopathy Truncal obesity Glomerulonephritis Mood changes Systemic lupus erythematosus Hyperextensible skin Cutis laxa Leukopenia Pancreatitis Aminoaciduria Progressive cerebellar ataxia Corneal opacity Bruising susceptibility Delusions Delayed menarche Mania Hepatic encephalopathy Cerebral edema Enuresis Echolalia Ankle clonus Hypoargininemia Loss of consciousness Increased intracranial pressure Cerebral palsy Clonus Hepatic steatosis Lethargy Respiratory alkalosis Hyperglutaminemia Hypertonia Dilated cardiomyopathy Ventricular hypertrophy Pigmentary retinopathy Progressive visual loss Chest pain Distal sensory impairment Distal amyotrophy Retinopathy Episodic ammonia intoxication Scarring Proximal muscle weakness Reduced visual acuity Hyperactivity Congestive heart failure Cardiomyopathy Visual impairment Stroke Edema Palpitations Abnormality of metabolism/homeostasis Tachycardia Paresthesia Pruritus Myalgia Arthralgia Constipation Motor aphasia Hypotension Perseveration Interstitial pulmonary abnormality Aphasia Stereotypy Abnormal lung morphology Respiratory failure Hemolytic anemia Abnormal blistering of the skin Acute episodes of neuropathic symptoms Paranoia Red urine Abdominal colic Respiratory paralysis Compensated hemolytic anemia Congenital hemolytic anemia Delirium Auditory hallucinations Cutaneous photosensitivity Ileus Visual hallucinations Fragile skin Hypermelanotic macule Hyponatremia Thin skin Hypertrichosis Atrial fibrillation Left ventricular hypertrophy Retinal degeneration Mask-like facies Lewy bodies Frontotemporal dementia Progressive encephalopathy Bipolar affective disorder Basal ganglia calcification Abnormality of neuronal migration Dysdiadochokinesis Calcinosis Muscle stiffness Broad-based gait Choreoathetosis Abnormality of extrapyramidal motor function Cerebral calcification Abnormal cerebellum morphology Abnormal lower motor neuron morphology Focal dystonia Dysmetria Growth delay Ophthalmoplegia Abnormality of the cerebral white matter Skin rash Neonatal hypotonia Myoclonus Pneumonia Dense calcifications in the cerebellar dentate nucleus Pseudohypoparathyroidism Calcification of the small brain vessels Pill-rolling tremor Micrographia Focal motor seizures Limb dysmetria Mood swings Alcoholism Vertigo Rigidity Decreased liver function Ventricular arrhythmia Cardiorespiratory arrest Hypokinesia Abnormal retinal morphology Neurodevelopmental delay Back pain Abnormal electroretinogram EMG: myopathic abnormalities Reduced ejection fraction Cone/cone-rod dystrophy Respiratory insufficiency due to muscle weakness Ventricular tachycardia Hyperlipidemia Exercise intolerance Cardiac arrest Abnormality of the gastrointestinal tract Wolff-Parkinson-White syndrome Gait ataxia Myocardial necrosis Microcephaly Glycogen accumulation in muscle fiber lysosomes Increased cerebral lipofuscin Suicidal ideation Macular hypopigmentation Left ventricular systolic dysfunction Ventricular preexcitation Myocardial fibrosis Impaired myocardial contractility Exercise-induced muscle cramps Retinal pigment epithelial mottling Muscle flaccidity Autophagic vacuoles Skeletal myopathy Myofibrillar myopathy Self-mutilation of tongue and lips due to involuntary movements


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Respiratory insufficiency, related diseases and genetic alterations Motor delay and Nausea and vomiting, related diseases and genetic alterations