75
(75.6%)

Juvenile xanthogranuloma

Anemia Hepatosplenomegaly Hyperlipoproteinemia Jaundice

Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis (see this term) characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity.

75
(75.6%)

Infant acute respiratory distress syndrome

Anemia Hepatosplenomegaly Jaundice Metabolic acidosis

Multifactorial inheritance Sporadic

Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.

75
(75.6%)

Somatostatinoma

Anemia Diabetes mellitus Hepatomegaly Jaundice

Somatostatinoma (SSoma) is an extremely rare pancreatic neuroendocrine tumor or duodenal endocrine tumor (see these terms) that originates either in the pancreas (50%) or the gastrointestinal tract (50%) and mainly presents with non-specific symptoms of abdominal pain, weight loss, jaundice and diarrhea but, in approximately 20% of pancreatic cases, leads to a somatostatin hypersecretion syndrome (somatostatinoma syndrome) characterized by diabetes mellitus, cholelithiasis, steatorrhea and hypochlorhydria.

75
(75.6%)

Congenital toxoplasmosis

Anemia Diabetes mellitus Hepatosplenomegaly Jaundice

Congenital toxoplasmosis (CTX) is an embryo-fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primo-infection by Toxoplasma gondii (Tg).

75
(75.6%)

Cystic echinococcosis

Anemia Hematuria Hepatomegaly Jaundice

Hydatidosis or cyst hydatic disease is a cosmopolitan larval cestodosis caused principally by the Echinococcus granulosus tapeworm, the adult form of which parasitises the intestine of dogs. Hydatidosis generally affects large domestic herbivores; humans are dead-end hosts, infected through contact with herding dogs or through ingestion of food contaminated with canine excrement.

75
(75.6%)

Dengue fever

Anemia Edema Hepatomegaly Jaundice

Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).

75
(75.6%)

Chondrosarcoma

Anemia Diabetes mellitus Hepatosplenomegaly Jaundice

Autosomal recessive inheritance

Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection.

75
(75.6%)

AL amyloidosis

Anemia Hepatosplenomegaly Jaundice Proteinuria

A plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.

75
(75.6%)

Plasmacytoma

Anemia Hepatosplenomegaly Jaundice Proteinuria

Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.

75
(75.6%)

Leprosy

Hemolytic anemia Hepatosplenomegaly Jaundice Proteinuria

A chronic infectious disease affecting primarily the skin and peripheral nervous system.

75
(75.6%)

Leiomyosarcoma

Hemolytic anemia Hepatomegaly Jaundice Proteinuria

75
(75.6%)

Polymyositis

Hemolytic anemia Hepatosplenomegaly Jaundice Proteinuria

A rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.

75
(75.6%)

Neurofibromatosis type 1

Diabetes mellitus Hepatosplenomegaly Iron deficiency anemia Jaundice

Autosomal dominant inheritance

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

75
(75.6%)

Small cell lung cancer

Hemolytic anemia Hepatomegaly Jaundice Proteinuria

Autosomal dominant inheritance

Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized by rapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.

75
(75.6%)

Thymoma

Hemolytic anemia Hepatosplenomegaly Jaundice Proteinuria

Thymoma is a thymic epithelial neoplasm (TEN; see this term), a rare malignancy that arises from the epithelium of the thymic gland.

75
(75.6%)

Down syndrome

Hemolytic anemia Hepatosplenomegaly Jaundice Proteinuria

Sporadic

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

97
(75.1%)

Aggressive systemic mastocytosis

Anemia Cholestasis Splenomegaly Xerostomia

A severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues.

98
(74.9%)

Autoimmune lymphoproliferative syndrome

Abnormal vitamin B12 level Autoimmune hemolytic anemia Jaundice Splenomegaly

A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

98
(74.9%)

POEMS syndrome

Anemia Jaundice Polycythemia Splenomegaly Vitamin B12 deficiency

POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.

98
(74.9%)

Multiple myeloma

Abnormality of vitamin B12 metabolism Hemolytic anemia Jaundice Splenomegaly

Autosomal recessive inheritance Somatic mutation

Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).

98
(74.9%)

Tuberculosis

Hemolytic anemia Jaundice Splenomegaly Vitamin B12 deficiency

Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.

102
(74.8%)

Crigler-Najjar syndrome

Hemolytic anemia Hyperbilirubinemia Jaundice Polysplenia

Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.

102
(74.8%)

Murine typhus

Anemia Fever Jaundice Splenic rupture

102
(74.8%)

Congenital diaphragmatic hernia

Anemia Hypothermia Jaundice Splenic rupture

Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.

102
(74.8%)

Hemophilia A

Hematuria Iron deficiency anemia Jaundice Splenic rupture

Autosomal dominant inheritance X-linked recessive inheritance

Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.

102
(74.8%)

Cholangiocarcinoma

Diabetes mellitus Iron deficiency anemia Jaundice Polysplenia

Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic.

102
(74.8%)

Rhabdomyosarcoma

Anemia Hematuria Jaundice Splenogonadal fusion

A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.

108
(74.8%)

Primary sclerosing cholangitis

Hemolytic anemia Jaundice Low levels of vitamin A Splenomegaly

Autosomal dominant inheritance Multifactorial inheritance

Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

108
(74.8%)

Cystic fibrosis

Hemolytic anemia Jaundice Low levels of vitamin A Splenomegaly

Autosomal recessive inheritance

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

110
(74.7%)

Eisenmenger syndrome

Cyanosis Hepatomegaly Iron deficiency anemia Proteinuria

Eisenmenger syndrome (ES) is a form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.

110
(74.7%)

Interatrial communication

Cyanosis Edema Hepatosplenomegaly Megaloblastic anemia

Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.

112
(74.6%)

Kasabach-Merritt syndrome

Hematuria Hemolytic anemia Hypersplenism Jaundice

Autosomal dominant inheritance

Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.

112
(74.6%)

Kaposi sarcoma

Abnormality of the spleen Edema Jaundice Microangiopathic hemolytic anemia

A rare vascular tumor that is characterized by human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops with various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.

114
(74.6%)

Rapidly progressive glomerulonephritis

Cholecystitis Hemolytic anemia Proteinuria Splenomegaly

114
(74.6%)

Mixed connective tissue disease

Diabetes mellitus Hemobilia Hemolytic anemia Splenomegaly

Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA).

114
(74.6%)

Leishmaniasis

Cholecystitis Hemolytic anemia Proteinuria Splenomegaly

A parasitic disease caused by different species of the genus Leishmania, transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).

114
(74.6%)

22q11.2 deletion syndrome

Anemia Cholelithiasis Diabetes mellitus Splenomegaly

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

114
(74.6%)

Polyarteritis nodosa

Cholecystitis Hemolytic anemia Proteinuria Splenomegaly

Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney.

119
(74.4%)

AA amyloidosis

Cholestasis Hepatosplenomegaly Normocytic anemia Proteinuria

Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.

120
(74.4%)

Congenital dyserythropoietic anemia type II

Abnormal glycosylation Hemolytic anemia Jaundice Splenomegaly

Autosomal recessive inheritance

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.