1
(90.1%)

Hereditary spherocytosis

Diabetes mellitus Hemolytic anemia Jaundice Spherocytosis Splenomegaly

Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

1
(90.1%)

Sickle cell anemia

Hemolytic anemia Jaundice Proteinuria Spherocytosis Splenomegaly

Autosomal recessive inheritance

Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

3
(87.7%)

Hemolytic anemia due to red cell pyruvate kinase deficiency

Anemia Hydrops fetalis Poikilocytosis Prolonged neonatal jaundice Splenomegaly

Autosomal recessive inheritance

Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.

3
(87.7%)

Hereditary elliptocytosis

Elliptocytosis Hemolytic anemia Hydrops fetalis Jaundice Splenomegaly

Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

3
(87.7%)

Alpha-thalassemia

Acanthocytosis Hemolytic anemia Hydrops fetalis Jaundice Splenomegaly

Autosomal dominant inheritance Autosomal recessive inheritance

An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.

3
(87.7%)

Beta-thalassemia

Acanthocytosis Hemolytic anemia Jaundice Proteinuria Splenomegaly

Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).

3
(87.7%)

Graft versus host disease

Anemia Jaundice Proteinuria Schistocytosis Splenomegaly

A rare disease that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.

8
(86.8%)

Polycythemia vera

Elliptocytosis Hemolytic anemia Plethora Proteinuria Splenomegaly

Autosomal dominant inheritance Somatic mutation Sporadic

Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.

9
(85.0%)

Glucagonoma

Acanthocytosis Diabetes mellitus Hepatosplenomegaly Intermittent jaundice Normochromic anemia

Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.

10
(84.1%)

Dubin-Johnson syndrome

Acanthocytosis Fever Hepatomegaly Jaundice

Autosomal recessive inheritance

Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.

11
(83.4%)

Neuroblastoma

Hemolytic anemia Jaundice Methylmalonic acidemia Spherocytosis Splenomegaly

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

12
(82.7%)

Refractory anemia

Acidosis Normochromic anemia Purpura Schistocytosis Splenomegaly

Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.

12
(82.7%)

Primary myelofibrosis

Elliptocytosis Hemolytic anemia Petechiae Proteinuria Splenomegaly

Somatic mutation

A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression.

14
(80.8%)

Lathosterolosis

Anisopoikilocytosis Cholestasis Hepatomegaly Horseshoe kidney

Autosomal recessive inheritance

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

15
(80.5%)

Short fifth metacarpals-insulin resistance syndrome

Hyperinsulinemia Spherocytosis Splenomegaly

Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.

16
(80.4%)

8p11.2 deletion syndrome

Azoospermia Hemolytic anemia Sacral dimple Spherocytosis Splenomegaly

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

17
(80.2%)

Sitosterolemia

Anemia Cirrhosis Fever Splenomegaly Stomatocytosis

Autosomal recessive inheritance

Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

17
(80.2%)

Acute panmyelosis with myelofibrosis

Anemia Hepatosplenomegaly Hypercalcemia Poikilocytosis Splenomegaly

17
(80.2%)

Tangier disease

Anemia Diabetes mellitus Hepatosplenomegaly Splenomegaly Stomatocytosis

Autosomal dominant inheritance Autosomal recessive inheritance

Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

20
(79.9%)

Retinitis pigmentosa

Acanthocytosis Anemia Hepatosplenomegaly Proteinuria Telangiectasia

Autosomal dominant inheritance Autosomal recessive inheritance X-linked recessive inheritance Mitochondrial inheritance

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

21
(79.5%)

Hemophilia B

Acanthocytosis Hematuria Hemobilia Splenic rupture

X-linked recessive inheritance

Hemophilia B is a form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.

22
(79.4%)

Choreoacanthocytosis

Abnormal erythrocyte morphology Abnormality of urine homeostasis Acanthocytosis Hepatomegaly Splenomegaly

Autosomal recessive inheritance

Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

23
(78.4%)

Chronic granulomatous disease

Abnormal metabolism Acanthocytosis Cholecystitis Hemolytic anemia Splenomegaly

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.

24
(78.4%)

Autoimmune hemolytic anemia, warm type

Autoimmune hemolytic anemia Fever Jaundice Splenomegaly

Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia (see this term) defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40°C).

24
(78.4%)

Neonatal lupus erythematosus

Anemia Fever Jaundice Splenomegaly

24
(78.4%)

Farber disease

Jaundice Joint swelling Microcytic anemia Splenomegaly

Autosomal recessive inheritance

A subcutaneous tissue disease characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

24
(78.4%)

Hemophagocytic syndrome associated with an infection

Anemia Fever Jaundice Splenomegaly

24
(78.4%)

Cold agglutinin disease

Fever Hemolytic anemia Jaundice Splenomegaly

Cold agglutinin disease is a type of autoimmune hemolytic anemia (see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C).

24
(78.4%)

Congenital rubella syndrome

Anemia Diabetes mellitus Jaundice Splenomegaly

Congenital rubella syndrome (CRS) is an infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.

24
(78.4%)

Babesiosis

Fever Hemolytic anemia Jaundice Splenomegaly

Babesiosis is an infectious disease caused by protozoa of the genus Babesia and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death.

24
(78.4%)

Castleman disease

Hematuria Iron deficiency anemia Jaundice Splenomegaly

Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form (see these terms). The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.

24
(78.4%)

Dermatitis herpetiformis

Diabetes mellitus Iron deficiency anemia Jaundice Splenomegaly

A chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. It may also appear as a consequence of gluten intolerance.

24
(78.4%)

Evans syndrome

Hemolytic anemia Jaundice Proteinuria Splenomegaly

A rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.

24
(78.4%)

Eosinophilic gastroenteritis

Diabetes mellitus Iron deficiency anemia Jaundice Splenomegaly

A rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.

24
(78.4%)

Q fever

Fever Hypoplastic anemia Jaundice Splenomegaly

Q fever, caused by Coxiella burnetii, is a bacterial zoonosis with a wide clinical spectrum that can be life-threatening and, in some cases, can become chronic.

24
(78.4%)

Wilson disease

Hemolytic anemia Jaundice Proteinuria Splenomegaly

Autosomal recessive inheritance

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.

24
(78.4%)

Myeloid sarcoma

Fever Iron deficiency anemia Jaundice Splenomegaly

Myeloid sarcoma is a rare solid tumor of the myelogenous cells occurring in an extramedullary site.

24
(78.4%)

Familial Mediterranean fever

Anemia Jaundice Proteinuria Splenomegaly

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.

24
(78.4%)

Idiopathic hypereosinophilic syndrome

Anemia Diabetes mellitus Jaundice Splenomegaly

Somatic mutation Sporadic

24
(78.4%)

Budd-Chiari syndrome

Anemia Jaundice Proteinuria Splenomegaly

Multifactorial inheritance

Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.