24
(78.4%)

Leptospirosis

Hemolytic anemia Jaundice Proteinuria Splenomegaly

Leptospirosis is an anthropozoonosis caused by spiral-shaped bacteria belonging to the genus Leptospira. Leptospirosis is a widespread zoonosis with a worldwide distribution and has emerged as a major public health problem in developing countries in South-East Asia and South America.

24
(78.4%)

Schistosomiasis

Iron deficiency anemia Jaundice Proteinuria Splenomegaly

Schistosomiasis is an infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.

24
(78.4%)

Typhoid

Anemia Jaundice Proteinuria Splenomegaly

Typhoid or typhoid fever is a reportable, fecal-oral, potentially fatal infectious disease, caused by the bacteria Salmonella typhi and characterized by a non-focal fever.

24
(78.4%)

Autoimmune hepatitis

Hematuria Hemolytic anemia Jaundice Splenomegaly

Chronic autoimmune hepatitis (AIH) is a rare progressive inflammatory disorder of unknown cause primarily affecting women and associated with circulating autoantibodies, elevated transaminase levels, and increased levels of immunoglobulin.

24
(78.4%)

Kawasaki disease

Hemolytic anemia Jaundice Proteinuria Splenomegaly

Multifactorial inheritance

Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

24
(78.4%)

Brucellosis

Hemolytic anemia Jaundice Proteinuria Splenomegaly

Brucellosis is an anthropozoonotic infection, endemic in the Mediterranean region, the Middle East, Latin America and parts of Asia and Africa, that is caused by gram-negative coccobacilli of the genus Brucella transmitted through consumption of unpasteurized dairy products or through direct contact with infected animals, placentas or aborted fetuses. Brucellosis is characterized by fever, fatigue, malaise, headache, anorexia, weight loss, sweating, osteomuscular pain (joint and lumbar pain), and arthritis.

24
(78.4%)

Acute liver failure

Hemolytic anemia Hyperinsulinemia Jaundice Splenomegaly

24
(78.4%)

Histoplasmosis

Hematuria Hemolytic anemia Jaundice Splenomegaly

24
(78.4%)

Hydrops fetalis

Hemolytic anemia Jaundice Proteinuria Splenomegaly

Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).

24
(78.4%)

Langerhans cell histiocytosis

Diabetes mellitus Jaundice Megaloblastic anemia Splenomegaly

Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.

24
(78.4%)

Angiosarcoma

Facial edema Iron deficiency anemia Jaundice Splenomegaly

24
(78.4%)

Malaria

Diabetes mellitus Hemolytic anemia Jaundice Splenomegaly

A life-threatening parasitic disease caused by Plasmodium (P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.

24
(78.4%)

Chronic myeloid leukemia

Hemolytic anemia Jaundice Proteinuria Splenomegaly

Somatic mutation

Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.

24
(78.4%)

Systemic sclerosis

Iron deficiency anemia Jaundice Proteinuria Splenomegaly

Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) (see these terms). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma (see these terms).

24
(78.4%)

Cleft lip/palate

Hematuria Hemolytic anemia Jaundice Splenomegaly

Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.

24
(78.4%)

Sarcoidosis

Hemolytic anemia Jaundice Proteinuria Splenomegaly

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

24
(78.4%)

Systemic lupus erythematosus

Hemolytic anemia Jaundice Proteinuria Splenomegaly

58
(77.5%)

Severe congenital hypochromic anemia with ringed sideroblasts

Anemia Anisopoikilocytosis Hepatosplenomegaly Increased circulating ferritin concentration

Autosomal dominant inheritance

STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.

58
(77.5%)

Acute erythroid leukemia

Anemia Diabetes mellitus Elliptocytosis Hepatosplenomegaly

60
(77.5%)

Eosinophilic fasciitis

Acrocyanosis Anemia Edema Splenomegaly

Autosomal recessive inheritance

Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.

60
(77.5%)

Inflammatory myofibroblastic tumor

Anemia Cyanosis Hematuria Splenomegaly

Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.

60
(77.5%)

Dyskeratosis congenita

Anemia Cyanosis Diabetes mellitus Splenomegaly

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

60
(77.5%)

Gaucher disease

Cyanosis Hemolytic anemia Proteinuria Splenomegaly

Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).

60
(77.5%)

Immune thrombocytopenic purpura

Cyanosis Hematuria Hemolytic anemia Splenomegaly

Autosomal dominant inheritance

Immune thrombocytopenic purpura (or immune thrombocytopenia; ITP) is an autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.

60
(77.5%)

Pyoderma gangrenosum

Hemolytic anemia Plethora Proteinuria Splenomegaly

Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.

60
(77.5%)

Tetralogy of Fallot

Anemia Cyanosis Edema Splenomegaly

Autosomal dominant inheritance Multifactorial inheritance

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

60
(77.5%)

Meningioma

Hematuria Hemolytic anemia Plethora Splenomegaly

A rare, mostly benign, primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding.

68
(77.2%)

Mevalonic aciduria

Anemia Cholestasis Fever Splenomegaly

Autosomal recessive inheritance

A rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

68
(77.2%)

LCAT deficiency

Cholestasis Hemolytic anemia Proteinuria Splenomegaly

LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.

68
(77.2%)

Toxocariasis

Anemia Cholestasis Proteinuria Splenomegaly

A cosmopolitan zoonotic disease caused in humans by the accidental ingestion of eggs or larvae of the ascarids Toxocara canis or Toxocara cati, the common round worm of dogs and cats respectively. The infestation can be asymptomatic or can present as visceral larva migrans caused by larval migration through major organs such as liver, lungs or central nervous system (manifesting with fever, cough, hepatomegaly, pneumonia or rarely encephalitis), or as ocular larva migrans caused by larval migration to the eye (manifesting as ocular inflammation and retinal scaring).

68
(77.2%)

IgG4-related retroperitoneal fibrosis

Cholestasis Normocytic anemia Proteinuria Splenomegaly

Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle.

72
(76.6%)

Progressive muscular atrophy

Acanthocytosis Fever Hepatosplenomegaly

73
(76.3%)

Peutz-Jeghers syndrome

Abnormality of the ureter Iron deficiency anemia Jaundice Splenomegaly

Autosomal dominant inheritance

An inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.

74
(76.2%)

Lead poisoning

Edema Elliptocytosis Hemolytic anemia Jaundice

Lead poisoning is defined as acute or chronic exposure to lead resulting in lead accumulation (blood lead concentration (BLC) >5 ug/dL) that can affect every organ system in the body and to which children are more susceptible. Clinical manifestations depend on the amount and duration of exposure and include abdominal pain, colic, constipation, lead line on gingival tissue, arthralgia, myalgia, peripheral neuropathy, fatigue, irritability, anemia, chronic nephropathy and hypertension. In children, even low levels of exposure (BLC <5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.

75
(75.6%)

Glutamate-cysteine ligase deficiency

Aminoaciduria Hemolytic anemia Hepatosplenomegaly Jaundice

Autosomal recessive inheritance

A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.

75
(75.6%)

Neonatal hemochromatosis

Anemia Edema Hepatomegaly Jaundice

Autosomal recessive inheritance

Neonatal hemochromatosis (NH) is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin.

75
(75.6%)

Hepatic veno-occlusive disease-immunodeficiency syndrome

Anemia Hepatosplenomegaly Jaundice Panhypogammaglobulinemia

Autosomal recessive inheritance

Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.

75
(75.6%)

Lysosomal acid lipase deficiency

Anemia Hepatosplenomegaly Jaundice Renal salt wasting

Autosomal recessive inheritance

Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.

75
(75.6%)

Congenital factor II deficiency

Anemia Hematuria Hepatomegaly Jaundice

Autosomal recessive inheritance

An inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.

75
(75.6%)

VIPoma

Diabetes mellitus Hepatomegaly Intermittent jaundice Normochromic anemia

VIPoma is an extremely rare type of pancreatic neuroendocrine tumor (see this term) that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).