Hepatomegaly, and Ischemic stroke

Diseases related with Hepatomegaly and Ischemic stroke

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

Top matches:

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.

ISOVALERIC ACIDEMIA Is also known as ivd deficiency|isovaleric acid coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOVALERIC ACIDEMIA

Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Other less relevant matches:

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

High match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.

ESSENTIAL THROMBOCYTHEMIA Is also known as thrombocytosis 1|essential thrombocytosis|et

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system
  • Respiratory distress


SOURCES: ORPHANET OMIM MENDELIAN

More info about ESSENTIAL THROMBOCYTHEMIA

High match POLYCYTHEMIA VERA

Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.

POLYCYTHEMIA VERA Is also known as polycythemia rubra vera|acquired primary erythrocytosis|prv|vaquez disease|osler-vaquez disease|pv

Related symptoms:

  • Neoplasm
  • Visual impairment
  • Hypertension
  • Hepatomegaly
  • Fatigue


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about POLYCYTHEMIA VERA

Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

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

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Ischemic stroke

Symptoms // Phenotype % cases
Stroke Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Vomiting Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Acidosis Coma Headache Fever Failure to thrive Intellectual disability Cardiomyopathy Ataxia Pulmonary embolism Cerebral ischemia Splenomegaly Optic atrophy Dystonia Anemia Encephalopathy Pancytopenia Dehydration Metabolic acidosis Aciduria Lethargy Thrombocytopenia Feeding difficulties Vertigo Leukocytosis Venous thrombosis Hyperglycinemia Myopathy Generalized hypotonia Muscular hypotonia Arterial thrombosis Fatigue Short stature Respiratory insufficiency Respiratory distress Motor delay Neurological speech impairment Pancreatitis Hyperammonemia Developmental regression Feeding difficulties in infancy Ketonuria Osteoporosis Hemiplegia Thrombocytosis Immunodeficiency Abdominal pain Organic aciduria Pain Cerebellar hemorrhage Methylmalonic aciduria Leukopenia

Rare Symptoms - Less than 30% cases

Acute encephalopathy Portal vein thrombosis Migraine Visual impairment Cognitive impairment Cataract Muscle weakness Hyperkinesis Intracranial hemorrhage Episodic vomiting Abnormality of immune system physiology Lactic acidosis Hernia Gastrointestinal hemorrhage Hip dysplasia Apnea Hypoglycemia Portal hypertension Constipation Arrhythmia Pruritus Weight loss Spastic diplegia Myelofibrosis Dyspnea Anorexia Dementia Myeloproliferative disorder Abnormality of retinal pigmentation Acute leukemia Ventricular hypertrophy Esophageal varix Myelodysplasia Kyphosis Psychosis Abnormality of the cerebral white matter Increased megakaryocyte count Myocardial infarction Congestive heart failure Exercise intolerance Pulmonary arterial hypertension Bruising susceptibility Leukemia Dysphagia Gait disturbance Tremor Erythema Attention deficit hyperactivity disorder Paresthesia Hemiplegia/hemiparesis Cerebral atrophy Abnormality of the liver Diabetes mellitus Renal insufficiency Aphasia Cerebral hemorrhage Cutis marmorata Purpura Hemiparesis Decreased antibody level in blood Ophthalmoplegia Myalgia Nephropathy Elevated hepatic transaminase Hepatosplenomegaly Dilatation Peripheral neuropathy Methylmalonic acidemia Hyperglycinuria Ketoacidosis Transient ischemic attack Edema Nausea and vomiting Abnormal cerebellum morphology Tubulointerstitial nephritis Tubulointerstitial abnormality Amaurosis fugax Choreoathetosis Postural instability Abnormal platelet morphology Bloody diarrhea Auditory hallucinations Spotty hypopigmentation Reduced consciousness/confusion Gait imbalance Paronychia Abnormal nerve conduction velocity Abnormality of bone marrow cell morphology Anterior hypopituitarism Stroke-like episode Impaired platelet aggregation Abnormal thrombocyte morphology Abnormal mitochondrial morphology Decreased mean platelet volume Paralytic ileus Abnormal platelet aggregation Increased CSF lactate Gingival bleeding Thromboembolism Crohn's disease Deep venous thrombosis Polycythemia Abnormality of the cerebellar vermis Visual hallucinations Tinnitus Seborrheic dermatitis Epistaxis Psychotic episodes Arthralgia Wolff-Parkinson-White syndrome Neoplasm Abnormal macular morphology Renal Fanconi syndrome Edema of the dorsum of hands Abnormality of the cerebral vasculature Left ventricular failure Morphological abnormality of the inner ear Writer's cramp Abnormality of the skeletal system Prominent ear helix Persistence of primary teeth Gastroparesis Leber optic atrophy Cochlear degeneration Psychomotor deterioration Spontaneous hematomas Morphological abnormality of the vestibule of the inner ear Abnormal mitochondrial shape Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Muscle fiber atrophy Dysesthesia Abnormal cochlea morphology Retinal pigment epithelial atrophy Cochlear malformation Gangrene Acrocyanosis Speech apraxia Myeloid leukemia Prolonged bleeding time Progressive night blindness Motor polyneuropathy Abnormality of peripheral nerve conduction Hemeralopia Ileus Lymphoma Hemianopia Abnormality of the renal tubule Chest pain Proximal tubulopathy Chronic hepatic failure Angina pectoris Macrocephaly Inability to walk Abnormality of movement Abnormality of eye movement Paralysis Respiratory tract infection Irritability Rigidity Hyperhidrosis Prominent forehead Spasticity Gliosis Abnormal facial shape Abnormality of amino acid metabolism Subcutaneous hemorrhage Arteriovenous malformation Disproportionate tall stature Ectopia lentis Urticaria Amblyopia Dental crowding Sparse scalp hair Dyskinesia Delayed myelination Retinal detachment Abnormality of the retinal vasculature Ketonemia Symmetrical progressive peripheral demyelination Macrocephaly at birth Glutaric acidemia Glutaric aciduria Retinal hemorrhage Infantile encephalopathy Fasting hypoglycemia Decreased plasma carnitine Dilation of lateral ventricles Generalized dystonia Neuronal loss in central nervous system Malignant hyperthermia Bulbar palsy Opisthotonus Malnutrition Encephalitis Leukoencephalopathy Cerebral palsy Joint dislocation Large fontanelles Abnormality of extrapyramidal motor function Recurrent fractures Arachnodactyly Abnormal thrombosis Inguinal hernia Small nail Coarctation of aorta Ascites Hepatic failure Pulmonic stenosis Severe global developmental delay Abnormal cardiac septum morphology Proximal muscle weakness Umbilical hernia Hyperactivity Abnormal heart morphology Abnormality of the coagulation cascade Syndactyly Ventricular septal defect Brachydactyly Elevated leukocyte alkaline phosphatase Increased red blood cell mass Budd-Chiari syndrome Increased hematocrit Increased hemoglobin Erythroid hyperplasia Intermittent claudication Patent foramen ovale Aplasia cutis congenita Genu valgum Aortic dissection Pectus carinatum Joint stiffness Glaucoma Pectus excavatum Behavioral abnormality Myopia High palate Scoliosis Right atrial enlargement Calcinosis cutis Cutis marmorata telangiectatica congenita Oligodactyly Prominent scalp veins Hypersplenism Cavernous hemangioma Aplasia cutis congenita of scalp Right ventricular failure Prominent superficial veins Calcinosis Dystrophic toenail Right ventricular hypertrophy Progressive proximal muscle weakness Renal tubular dysfunction Mutism Facial diplegia Short neck Hyporeflexia Areflexia Visual loss Depressivity Hypertonia Abnormality of the dentition Diarrhea Cerebellar atrophy Blindness Ventriculomegaly Delayed skeletal maturation Skeletal muscle atrophy Dysarthria Hyperreflexia Ptosis Sensorineural hearing impairment Nystagmus Hypertelorism Growth delay Microcephaly Elevated serum creatine phosphokinase Cerebellar hypoplasia Propionicacidemia Proteinuria Congenital cataract Arthrogryposis multiplex congenita Generalized tonic-clonic seizures Dilated cardiomyopathy Nyctalopia Protruding ear Abnormality of the pinna Mental deterioration Hypertrophic cardiomyopathy Anxiety Rod-cone dystrophy EEG abnormality Photophobia Jaundice Gastroesophageal reflux Hypothyroidism Autism Gait ataxia Cerebral cortical atrophy Hypogonadism Myoclonus Hearing impairment Intolerance to protein Malabsorption Agitation Panniculitis Antiphospholipid antibody positivity Erythema nodosum Granulocytopenia Immune dysregulation Hypercoagulability Raynaud phenomenon Elevated erythrocyte sedimentation rate Combined immunodeficiency Vasculitis Lupus anticoagulant Foot dorsiflexor weakness Lymphadenopathy Paraplegia Papule Skin rash Arthritis Episodic ketoacidosis Abnormal myelination Cerebral edema Bone marrow hypocellularity Pure red cell aplasia Retinal arterial occlusion Propionyl-CoA carboxylase deficiency Recurrent infections Increased level of hippuric acid in urine Ketosis Limb hypertonia Poor appetite Tachypnea Eczema Overgrowth Neutropenia Muscular hypotonia of the trunk Metabolic ketoacidosis Central retinal artery occlusion Chronic metabolic acidosis Abnormal globus pallidus morphology Homocystinuria Delayed CNS myelination Macrocytic anemia Spastic tetraparesis Paraparesis Tetraparesis Stage 5 chronic kidney disease Abnormality of the kidney Carious teeth Delayed puberty Cardiorespiratory arrest Bifid scrotum Hyperkalemia Dysphasia Vestibular dysfunction Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Mask-like facies Aplasia/Hypoplasia of the cerebellum Prolonged QT interval Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Cachexia Visual field defect Multiple lipomas Chronic kidney disease Abnormality of visual evoked potentials Delusions Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Hashimoto thyroiditis Vertebral fusion Atopic dermatitis Drowsiness Distal arthrogryposis Primary adrenal insufficiency Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Atrioventricular block Growth abnormality Anal atresia Sensory impairment Bilateral sensorineural hearing impairment Generalized-onset seizure Abnormality of the cardiovascular system Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Memory impairment Increased serum lactate Sudden cardiac death Type II diabetes mellitus Generalized myoclonic seizures Muscle cramps Polyneuropathy Hirsutism Polymicrogyria Nausea Peripheral axonal neuropathy Ichthyosis Confusion Dysmetria Nephrotic syndrome Status epilepticus Easy fatigability Generalized hirsutism Goiter Schizophrenia Hypopigmented skin patches Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Macular degeneration Type I diabetes mellitus Hypogonadotrophic hypogonadism EMG abnormality Atrial fibrillation Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Hallucinations Gingival overgrowth Left ventricular hypertrophy Decreased body weight Involuntary movements Hypertrichosis Subdural hemorrhage


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