Hepatomegaly, and Stroke

Diseases related with Hepatomegaly and Stroke

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

Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BUDD-CHIARI SYNDROME

Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Cerebral cavernous angiomas are to be distinguished from cerebral arteriovenous malformations ({106070}, {108010}). CCMs are venous and not demonstrable by arteriography; hence they are referred to as angiographically silent.Capillary hemangiomas (OMIM ) are classified as distinct from vascular malformations in that hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. Hemangiomas develop shortly after birth. In contrast, vascular malformations are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover (Mulliken and Young, 1988). Genetic Heterogeneity of CCMCCM2 (OMIM ) is caused by mutation in the CCM2/malcavernin gene (OMIM ), and CCM3 (OMIM ) is caused by mutation in the PDCD10 gene (OMIM ).Evidence suggests that a 2-hit mechanism involving biallelic germline and somatic mutations is responsible for CCM1 pathogenesis, see PATHOGENESIS and MOLECULAR GENETICS sections.

CEREBRAL CAVERNOUS MALFORMATIONS; CCM Is also known as cam|cerebral capillary malformations|cavernous angiomatous malformations|cavernous angioma, familial

Related symptoms:

  • Seizures
  • Muscle weakness
  • Hepatomegaly
  • Congestive heart failure
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBRAL CAVERNOUS MALFORMATIONS; CCM

Other less relevant matches:

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

Vitamin B12-unresponsive methylmalonic acidemia type mut- 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 MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

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

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

High match RFT1-CDG

RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).

RFT1-CDG Is also known as congenital disorder of glycosylation type in|cdg1n|cdg-in|cdg syndrome type in|carbohydrate deficient glycoprotein syndrome type in|man5glcnac2-pp-dol flippase deficiency|cdgin|cdg in|congenital disorder of glycosylation type 1n

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RFT1-CDG

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

Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

SICKLE CELL ANEMIA Is also known as sickle cell disease

Related symptoms:

  • Intellectual disability
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SICKLE CELL ANEMIA

Top 5 symptoms//phenotypes associated to Hepatomegaly and Stroke

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Headache Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Respiratory distress Leukocytosis Thrombocytosis Pain Intellectual disability Feeding difficulties Failure to thrive Myocardial infarction Ataxia Coma Cerebral hemorrhage Thrombocytopenia Leukemia Fever Lethargy Anemia

Rare Symptoms - Less than 30% cases

Pure red cell aplasia Pulmonary embolism Myeloid leukemia Irritability Myelodysplasia Venous thrombosis Chest pain Acute leukemia Bruising susceptibility Vertigo Hepatosplenomegaly Abnormality of the coagulation cascade Cerebral palsy Arterial thrombosis Renal insufficiency Generalized hypotonia Respiratory insufficiency Fatigue Visual impairment Hyperammonemia Immunodeficiency Optic atrophy Myeloproliferative disorder Muscular hypotonia Portal vein thrombosis Increased megakaryocyte count Myelofibrosis Confusion Spasticity Budd-Chiari syndrome Abnormal thrombosis Cerebral edema Ischemic stroke Portal hypertension Leukopenia Polycythemia Thromboembolism Bone marrow hypocellularity Pancytopenia Dehydration Elevated hepatic transaminase Aciduria Cirrhosis Weight loss Jaundice Gastrointestinal hemorrhage Neoplasm Vomiting Hypercoagulability Edema Agitation Bilateral basal ganglia lesions Cutis marmorata Hemiplegia Peripheral neuropathy Purpura Vasculitis Lymphadenopathy Dilatation Arthritis Abnormality of the liver Skin rash Foot dorsiflexor weakness Papule Hemiparesis Ophthalmoplegia Paraplegia Decreased antibody level in blood Myalgia Peritonitis Abnormal isoelectric focusing of serum transferrin Myoclonus Hyperglutaminemia Episodic ammonia intoxication Short stature Hearing impairment Microcephaly Micrognathia Sensorineural hearing impairment Cognitive impairment Hyperreflexia Short neck Intellectual disability, severe Cerebral atrophy Cerebral cortical atrophy Abnormality of the posterior cranial fossa Reduced visual acuity Muscular hypotonia of the trunk Arthrogryposis multiplex congenita Abnormality of the foot Abnormal bleeding Adducted thumb Mild short stature Abnormality of coagulation Inverted nipples Stroke-like episode Combined immunodeficiency Hyperintensity of cerebral white matter on MRI Pes valgus Antiphospholipid antibody positivity Aphasia Left ventricular failure Wheezing Iron deficiency anemia Poor appetite Aseptic necrosis Reticulocytosis Abnormality of the vasculature Elevated serum creatinine Asplenia Atelectasis Increased mean corpuscular volume Hypoxemia Abnormality of the spleen Osteomyelitis Night sweats Abnormal hemoglobin Microalbuminuria Chronic myelogenous leukemia Hypochromic anemia Chronic hemolytic anemia Unconjugated hyperbilirubinemia Persistence of hemoglobin F Abnormal lactate dehydrogenase activity Increased lactate dehydrogenase activity Priapism Pigment gallstones Microcytic anemia Cholelithiasis Elevated erythrocyte sedimentation rate Respiratory failure Raynaud phenomenon Immune dysregulation Granulocytopenia Erythema nodosum Hypoargininemia Panniculitis Lupus anticoagulant Retinal arterial occlusion Central retinal artery occlusion Recurrent infections Pneumonia Osteoporosis Rigidity Tachypnea Abnormality of the nervous system Retinopathy Cough Hepatic failure Hemolytic anemia Hematuria Nephropathy Sepsis Cardiomegaly Cholestasis Bone pain Recurrent bacterial infections Protein avoidance Ankle clonus Respiratory alkalosis Transient ischemic attack Dyspnea Paresthesia Intestinal obstruction Lymphoma Ascites Nausea Prolonged bleeding time Malabsorption Scarring Carcinoma Acrocyanosis Abnormality of the skeletal system Gangrene Abnormality of the cerebral vasculature Abnormal thrombocyte morphology Impaired platelet aggregation Amaurosis fugax Abnormality of bone marrow cell morphology Bloody diarrhea Abnormal platelet morphology Decreased mean platelet volume Abnormal platelet aggregation Cerebellar hemorrhage Hepatocellular carcinoma Hepatic vascular malformations Methylmalonic acidemia Focal-onset seizure Gastrointestinal infarctions Esophageal varix Reduced protein C activity Hepatic vein thrombosis Muscle weakness Congestive heart failure Varicose veins Paralysis Lower limb muscle weakness Migraine Abnormality of the skin Cerebral calcification Retinal vascular malformation Telangiectasia Hemangioma Intracranial hemorrhage Acute hepatic failure Abnormality of the musculature Capillary hemangioma Cavernous hemangioma Neuritis Venous malformation Varicocele Retrobulbar optic neuritis Episodic ketoacidosis Hyperglycinuria Oroticaciduria Clonus Motor delay Tremor Diarrhea Hypertonia Behavioral abnormality Encephalopathy Visual loss Metabolic acidosis Hepatic steatosis Psychosis Hallucinations Acidosis Increased red blood cell mass Increased intracranial pressure Slurred speech Loss of consciousness Cholecystitis Insomnia Delusions Echolalia Enuresis Hepatic encephalopathy Mania Delayed menarche Elevated leukocyte alkaline phosphatase Increased hematocrit Dysarthria Organic aciduria Abnormal myelination Cardiomyopathy Dystonia Hyperglycinemia Nausea and vomiting Abnormality of movement Neutropenia Choreoathetosis Anorexia Pancreatitis Methylmalonic aciduria Ketoacidosis Increased hemoglobin Arthralgia Erythema Pruritus Epistaxis Tinnitus Gingival bleeding Deep venous thrombosis Angina pectoris Cerebral ischemia Intermittent claudication Erythroid hyperplasia Increased red cell sickling tendency


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