Hepatomegaly, and Arthritis

Diseases related with Hepatomegaly and Arthritis

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

Top matches:

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

Other less relevant matches:

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

Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013).For a general description and a discussion of genetic heterogeneity of ALPS, see {601859}.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 Is also known as cvid9, formerly|immunodeficiency, common variable, 9, formerly

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3

Medium match REYNOLDS SYNDROME

Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).

REYNOLDS SYNDROME Is also known as primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about REYNOLDS SYNDROME

Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).

MULTIPLE SYMMETRIC LIPOMATOSIS Is also known as launois-bensaude lipomatosis|familial benign cervical lipomatosis|madelung disease|cephalothoracic lipodystrophy|lipomatosis, familial benign cervical|lipodystrophy, cephalothoracic

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYMMETRIC LIPOMATOSIS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Arthritis

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Cirrhosis Uncommon - Between 30% and 50% cases
Gout Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Arthralgia Elevated erythrocyte sedimentation rate Pain Recurrent infections Lymphadenopathy Hypertension Skin rash Hepatosplenomegaly Congestive heart failure

Rare Symptoms - Less than 30% cases

Hypothyroidism Autoimmunity Myalgia Abdominal pain Fever Arrhythmia Delayed puberty Jaundice Arthropathy Diabetes mellitus Fatigue Autoimmune thrombocytopenia Thyroiditis Thrombocytopenia Immunodeficiency Hyperbilirubinemia Elevated hepatic transaminase Telangiectasia Encephalitis Elevated alkaline phosphatase Respiratory insufficiency Pruritus Gastroesophageal reflux Ascites Gastrointestinal hemorrhage Cholestasis Skin ulcer Steatorrhea Telangiectasia of the skin Recurrent sinusitis Dysphagia Purpura Abnormality of iron homeostasis Abnormality of the anterior pituitary Elevated transferrin saturation Abnormality of endocrine pancreas physiology Erythema Hemolytic anemia Nephrotic syndrome Sinusitis Shock Membranous nephropathy Systemic lupus erythematosus Glomerulonephritis Increased antibody level in blood Keratoconjunctivitis sicca Lymphoproliferative disorder Immune dysregulation Lymphocytosis Generalized lymphadenopathy Scleroderma Sclerodactyly Irregular hyperpigmentation Coronary artery atherosclerosis Abnormality of the skin Myocardial infarction Insulin resistance Hoarse voice Reduced tendon reflexes Ragged-red muscle fibers Abnormality of mitochondrial metabolism Oral-pharyngeal dysphagia Axonal degeneration Polyneuropathy Multiple lipomas Macrocytic anemia Lipoma Oligomenorrhea Hyperlipoproteinemia Alcoholism Decreased LDL cholesterol concentration Neuropathic arthropathy Increased HDL cholesterol concentration Muscle cramps Tachycardia Xerostomia Congenital hepatic fibrosis Raynaud phenomenon Antinuclear antibody positivity Calcinosis Esophageal varix Biliary cirrhosis Lichenification Abnormality of the gastric mucosa Mucosal telangiectasiae Lip telangiectasia Paresthesia Palmar telangiectasia Calcinosis cutis Generalized abnormality of skin Neoplasm Peripheral neuropathy Gait disturbance Babinski sign Pes cavus Joint stiffness Increased serum iron Cardiomyopathy Increased serum ferritin Uveitis Atransferrinemia Visual impairment Visual loss Falls Pleural effusion Rheumatoid arthritis Pericarditis Joint swelling Hypochromic microcytic anemia Juvenile rheumatoid arthritis Elevated C-reactive protein level Anterior uveitis Serositis Diarrhea Recurrent respiratory infections Respiratory tract infection Hypochromic anemia Abnormality of the pancreas Eczema Increased total bilirubin Leukemia Cholelithiasis Prolonged neonatal jaundice Reticulocytosis Anemia of inadequate production Chronic myelogenous leukemia Congenital hypoplastic anemia Increased hemoglobin Microcytic anemia Increased red cell osmotic fragility Endopolyploidy on chromosome studies of bone marrow Reduced activity of N-acetylglucosaminyltransferase II Growth delay Pneumonia Pallor Scarring Abnormality of the cardiovascular system Decreased antibody level in blood Abnormal lung morphology Generalized hyperpigmentation Dilated cardiomyopathy Hepatoblastoma Chronic pancreatitis Spider hemangioma Ketonemia Muscle weakness Osteoporosis Hypogonadism Lethargy Xanthelasma Infertility Amenorrhea Hyperpigmentation of the skin Hypogonadotrophic hypogonadism Azoospermia Portal hypertension Impotence Decreased glomerular filtration rate Xanthomatosis Lymphopenia Decreased proportion of CD4-positive T cells Abnormal intestine morphology Recurrent upper respiratory tract infections Psoriasiform dermatitis Interstitial pulmonary abnormality Autoimmune hemolytic anemia Verrucae Impaired T cell function Renal insufficiency Hepatocellular carcinoma Hypoglycemia Proteinuria Lactic acidosis Hematuria Metabolic acidosis Pulmonary arterial hypertension Hyperlipidemia Focal segmental glomerulosclerosis Abnormal adipose tissue morphology


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