160
(72.3%)

Peripheral primitive neuroectodermal tumor

Anemia Ascites Elevated alpha-fetoprotein Jaundice

A rare, aggressive, malignant, neoplastic disease characterized by a usually ill-defined, solid, multilobulated mass, frequently having necrosis, located on any site of the body (except the central nervous system), composed of small, round, poorly differentiated cells, with or without Homer-Wright rosettes, showing varying degrees of neuroectodermal differentiation. Manifestations are variable depending on location, with osteolytic destruction being common when arising from bone.

160
(72.3%)

Cutaneous neuroendocrine carcinoma

Ascites Diabetes mellitus Iron deficiency anemia Jaundice

Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)).

160
(72.3%)

Gastroschisis

Anemia Ascites Jaundice Proteinuria

Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.

160
(72.3%)

Zollinger-Ellison syndrome

Abdominal mass Diabetes mellitus Jaundice Megaloblastic anemia

Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion.

160
(72.3%)

Carcinoid syndrome

Anemia Ascites Facial edema Jaundice

Autosomal dominant inheritance

A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves.

160
(72.3%)

Cryptococcosis

Anemia Ascites Diabetes mellitus Jaundice

A cosmopolitan fungal infection due to Cryptococcus neoformans.

160
(72.3%)

Liposarcoma

Anemia Ascites Hematuria Jaundice

Liposarcoma (LS), a type of soft tissue sarcoma, describes a group of lipomatous tumors of varying severity ranging from slow-growing to aggressive and metastatic. Liposarcomas are most often located in the lower extremities or retroperitoneum, but they can also occur in the upper extremities, neck, peritoneal cavity, spermatic cord, breast, vulva and axilla.

160
(72.3%)

Glioblastoma

Ascites Edema Hemolytic anemia Jaundice

Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification).

169
(72.2%)

Paroxysmal nocturnal hemoglobinuria

Hemolytic anemia Jaundice Splenic rupture Vitamin B12 deficiency

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.

169
(72.2%)

Preeclampsia

Hemolytic anemia Jaundice Splenic rupture Vitamin B12 deficiency

Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.

171
(71.8%)

TAFRO syndrome

Cholangitis Hepatosplenomegaly Microcytic anemia Proteinuria

171
(71.8%)

Anaplastic large cell lymphoma

Cholecystitis Edema Hepatosplenomegaly Iron deficiency anemia

A rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.

171
(71.8%)

Trisomy 13

Anemia Hematuria Hepatomegaly Portal fibrosis

Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.

171
(71.8%)

Omphalocele

Cholelithiasis Hematuria Hepatomegaly Iron deficiency anemia

Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.

171
(71.8%)

Nephroblastoma

Anemia Hepatomegaly Portal fibrosis Proteinuria

A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.

176
(71.7%)

Dermatomyositis

Abnormal metabolism Acrocyanosis Hemolytic anemia Hepatomegaly

A type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.

177
(71.4%)

Erdheim-Chester disease

Anemia Ascites Diabetes mellitus Plethora

Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.

177
(71.4%)

Osteosarcoma

Anemia Ascites Cyanosis Hematuria

Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.

179
(71.2%)

Carcinoma of the ampulla of Vater

Anemia Fever Jaundice Lymphadenopathy

Carcinoma of the ampulla of Vater is a rare malignant tumor originating from the ampulla of Vater that can present with symptoms of general fatigue, loss of appetite, weight loss, nausea, vomiting, abdominal pain and, most commonly, painless obstructive jaundice. The tumor is believed to arise from duodenal, biliary or pancreatic epilthelium, resulting in the respective histological types. In general, carcinoma of the ampulla of Vater has a better prognosis (5-year survival rate of 45%) than cancers of the distal bile duct and pancreas.

179
(71.2%)

MALT lymphoma

Anemia Hematuria Jaundice Lymphadenopathy

Multifactorial inheritance

MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes.

179
(71.2%)

Strongyloidiasis

Anemia Diabetes mellitus Jaundice Lymphadenopathy

A parasitosis caused by the intestinal nematode Strongyloides stercoralis (round worm).

179
(71.2%)

Nasopharyngeal carcinoma

Dehydration Jaundice Lymphadenopathy Microcytic anemia

Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx.

179
(71.2%)

Acute adrenal insufficiency

Jaundice Lymphadenopathy Normocytic anemia Renal salt wasting

A rare, severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.

179
(71.2%)

Panhypopituitarism

Anemia Diabetes mellitus Generalized lymphadenopathy Jaundice

179
(71.2%)

Myasthenia gravis

Abnormality of the thymus Hemolytic anemia Jaundice Proteinuria

Multifactorial inheritance

Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.

186
(71.2%)

Alpha-thalassemia-myelodysplastic syndrome

Bruising susceptibility Microcytic anemia Splenomegaly

An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).

187
(71.2%)

Common variable immunodeficiency

Hemolytic anemia Purpura Splenomegaly Vitamin B12 deficiency

Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

188
(71.1%)

Congenital chylothorax

Ascites Cholestasis Edema Hemolytic anemia

Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.

188
(71.1%)

Kabuki syndrome

Ascites Cholestasis Diabetes mellitus Hemolytic anemia

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.

188
(71.1%)

Turner syndrome

Ascites Cholestasis Diabetes mellitus Macrocytic anemia

Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.

191
(71.0%)

Autoimmune polyendocrinopathy type 4

Aplasia/Hypoplasia of the spleen Biliary cirrhosis Decreased circulating antibody level Macrocytic anemia

191
(71.0%)

Autoimmune polyendocrinopathy type 3

Anemia Aplasia/Hypoplasia of the spleen Biliary cirrhosis Diabetes mellitus

A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.

191
(71.0%)

Clear cell renal carcinoma

Anemia Cholecystitis Hematuria Splenic rupture

191
(71.0%)

Cornelia de Lange syndrome

Anemia Asplenia Biliary atresia Increased nuchal translucency

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

191
(71.0%)

Aspergillosis

Cholangitis Hematuria Hemolytic anemia Splenic abscess

A rare infectious disease caused by inhalation of the opportunistic fungus aspergillus that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.

196
(70.9%)

X-linked sideroblastic anemia

Abnormality of iron homeostasis Anemia Elevated hepatic transaminase Splenomegaly

X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.

196
(70.9%)

Chronic neutrophilic leukemia

Anemia Hepatosplenomegaly Paraproteinemia Splenomegaly

196
(70.9%)

Apolipoprotein A-I deficiency

Abnormality of the liver Anemia Decreased HDL cholesterol concentration Splenomegaly

Autosomal dominant inheritance

A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).

196
(70.9%)

Combined immunodeficiency due to CRAC channel dysfunction

Fever Hemolytic anemia Hepatomegaly Splenomegaly

Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.

196
(70.9%)

Osteopetrosis with renal tubular acidosis

Anemia Hepatomegaly Renal tubular acidosis Splenomegaly

Autosomal recessive inheritance

Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.