Hepatomegaly, and Osteoarthritis

Diseases related with Hepatomegaly and Osteoarthritis

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

Top matches:

Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

Medium match WILSON DISEASE

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Other less relevant matches:

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II Is also known as dyserythropoietic anemia, congenital, type ii|cda ii|sec23b-cdg|hempas|hereditary erythroblastic multinuclearity with positive acidified-serum test|cda type ii|cda type 2|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hemp

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Congestive heart failure
  • Splenomegaly
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II

Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial|congenital hypotransferrinemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ATRANSFERRINEMIA

Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency is a rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY Is also known as alps due to ctla4 haploinsuffiency|chai|ctla4 haploinsufficiency with autoimmune infiltration|ctla-4 haploinsufficiency with autoimmune infiltration disease

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY

GLYCOGEN STORAGE DISEASE IC; GSD1C Is also known as gsd ic

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Renal insufficiency
  • Hypoglycemia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IC; GSD1C

Top 5 symptoms//phenotypes associated to Hepatomegaly and Osteoarthritis

Symptoms // Phenotype % cases
Arthritis Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cirrhosis Congestive heart failure Proteinuria Fatigue Ascites Growth delay Abnormality of the liver Gout Abnormality of the cardiovascular system Thrombocytopenia Arthralgia Abdominal pain Arrhythmia Diarrhea Hepatocellular carcinoma

Rare Symptoms - Less than 30% cases

Short stature Recurrent infections Serositis Interstitial pulmonary abnormality Congenital hypoplastic anemia Anemia of inadequate production Acute hepatic failure Failure to thrive Spasticity Seizures Pulmonary arterial hypertension Depressivity Dementia Osteoporosis Cholelithiasis Jaundice Bruising susceptibility Hematuria Progressive neurologic deterioration Delayed puberty Bone pain Leukopenia Recurrent respiratory infections Pathologic fracture Joint swelling Edema of the lower limbs Protuberant abdomen Increased serum ferritin Renal insufficiency Meningitis Nausea Nausea and vomiting Skin rash Myalgia Rheumatoid arthritis Leukocytosis Nephrocalcinosis Elevated erythrocyte sedimentation rate Fever Pericarditis Osteolysis Syncope Cyanosis Premature osteoarthritis Apraxia Pancytopenia Focal segmental glomerulosclerosis Epistaxis Decreased body weight Anorexia Hepatic fibrosis Increased bone mineral density Spastic paraparesis Oculomotor apraxia Parkinsonism Portal hypertension Increased antibody level in blood Decreased proportion of CD4-positive T cells Osteomyelitis Menorrhagia Clubbing Abnormality of the thorax Abnormality of the menstrual cycle Reduced bone mineral density Hypertension Hypoglycemia Lactic acidosis Metabolic acidosis Hyperlipidemia Increased susceptibility to fractures Xanthomatosis Abnormal bleeding Generalized myoclonic seizures Delayed skeletal maturation High nonceruloplasmin-bound serum copper Mixed demyelinating and axonal polyneuropathy Kayser-Fleischer ring Atypical or prolonged hepatitis Spider hemangioma Hypersexuality Global developmental delay Scoliosis Ataxia Strabismus Cognitive impairment Motor delay Myopia Kyphosis Chronic pancreatitis Acute hepatitis Neurological speech impairment Abdominal distention Hypocupremia Abnormality of skin pigmentation Xanthelasma Abnormality of coagulation Decreased glomerular filtration rate Corneal opacity Hepatoblastoma Abnormality of the eye EEG abnormality Poor motor coordination Osteopenia Dyspnea Myoclonus Abnormality of eye movement Impaired T cell function Petechiae Hypothyroidism Hypochromic microcytic anemia Abnormality of the pancreas Microcytic anemia Autoimmune hemolytic anemia Scarring Pallor Pneumonia Atransferrinemia Reduced activity of N-acetylglucosaminyltransferase II Endopolyploidy on chromosome studies of bone marrow Increased red cell osmotic fragility Increased hemoglobin Increased total bilirubin Chronic myelogenous leukemia Hypochromic anemia Visual impairment Prolonged neonatal jaundice Anterior uveitis Abnormal lung morphology Abnormal intestine morphology Eczema Decreased antibody level in blood Respiratory tract infection Immunodeficiency Elevated C-reactive protein level Psoriasiform dermatitis Recurrent upper respiratory tract infections Juvenile rheumatoid arthritis Uveitis Pleural effusion Falls Autoimmunity Visual loss Reticulocytosis Hyperbilirubinemia Lymphopenia Supranuclear gaze palsy Periorbital edema Generalized osteosclerosis Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Multiple myeloma Vertebral compression fractures Hypersplenism Bipolar affective disorder Gingival bleeding Aseptic necrosis Exertional dyspnea Autoimmune thrombocytopenia Verrucae Pericardial effusion Esodeviation Fractures of the long bones Thyroiditis Biliary tract obstruction Leukemia Horizontal supranuclear gaze palsy Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Vascular calcification Spontaneous hematomas Erlenmeyer flask deformity of the femurs Proximal muscle weakness in lower limbs Orthopnea Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Retinoblastoma Aminoaciduria Menstrual irregularities Umbilical hernia Urinary incontinence Full cheeks Hirsutism Pectus carinatum Postnatal growth retardation Conductive hearing impairment Coarse facial features Abnormality of the skin Mandibular prognathia Inguinal hernia Intellectual disability, mild Short neck Frontal bossing Gait disturbance Prominent nose Otitis media Wide nasal bridge Papilledema Flared nostrils Mucopolysacchariduria Wrist flexion contracture Thoracolumbar kyphosis Clubbing of fingers Abnormality of the skull Rhinitis Thickened skin Abnormal heart valve morphology Short finger Bowel incontinence Multiple joint contractures Prominent supraorbital ridges Widely spaced teeth Hoarse voice Macrocephaly Sensorineural hearing impairment Thenar muscle atrophy Chest pain Pancreatitis Purpura Vasculitis Myocardial infarction Nephrotic syndrome Asthma Nephropathy Systemic lupus erythematosus Stage 5 chronic kidney disease Malabsorption Erythema Abnormality of the kidney Acidosis Constipation Headache Chronic kidney disease Intestinal obstruction Orchitis Stiff neck Recurrent meningitis Azotemia Renal amyloidosis Gastrointestinal infarctions Erysipelas Pleuritis Synovitis Inflammation of the large intestine Decreased circulating aldosterone level Peritonitis Oral leukoplakia Antinuclear antibody positivity Episodic fever Amyloidosis Hyperkalemia Expressive language delay Obstructive lung disease Neoplasm of the liver Decreased liver function Drooling Leukoencephalopathy Pain Spontaneous abortion Muscle stiffness Increased body weight Nephrolithiasis Abnormality of the hand Involuntary movements Clumsiness Cholestasis Psychosis Hepatitis Coma Polyneuropathy Schizophrenia Back pain Hemolytic anemia Hypoparathyroidism Hyperphosphaturia Esophageal varix Chondrocalcinosis Renal tubular dysfunction Increased reactive oxygen species production Hand tremor Abnormality of blood and blood-forming tissues Hypercalciuria Arthropathy Osteomalacia Glycosuria Global brain atrophy Oral-pharyngeal dysphagia Personality changes Abnormality of mitochondrial metabolism Hepatic steatosis Hepatic failure Heparan sulfate excretion in urine Abnormality of the Eustachian tube Tremor Dysarthria Peripheral neuropathy Neoplasm Intellectual disability Ridged cranial sutures Abnormality of nasopharyngeal adenoids Edema Restricted chest movement Incisional hernia Recurrent upper and lower respiratory tract infections Tonsillitis Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Functional motor deficit Dysphagia Vomiting Joint hypermobility Pruritus Peripheral axonal neuropathy Paresthesia Confusion Poor speech Infertility Abnormality of the cerebral white matter Aggressive behavior Dystonia Abnormality of the nervous system Anxiety Elevated hepatic transaminase Rigidity Difficulty walking Weight loss Cerebral atrophy Ketonemia


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