241
(69.1%)

Atypical hemolytic uremic syndrome

Hemolytic anemia Hepatosplenomegaly Purpura Vitamin B12 deficiency

A rare thrombotic microangiopathy disorder characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.

241
(69.1%)

Acrodermatitis enteropathica

Erythema Hepatomegaly Methylmalonic acidemia Normocytic anemia

Autosomal recessive inheritance

A rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.

241
(69.1%)

Idiopathic intracranial hypertension

Hemolytic anemia Hepatosplenomegaly Purpura Vitamin B12 deficiency

Autosomal recessive inheritance

Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.

244
(68.7%)

Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

Anemia Hepatomegaly Pallor Splenomegaly

Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.

244
(68.7%)

Fetal cytomegalovirus syndrome

Anemia Hepatomegaly Sensorineural hearing impairment Splenomegaly

A fetopathy that is likely to occur when a cytomegalovirus (CMV) infected pregnant woman transmits the virus in utero. Children born with congenital CMV infection may present with hepatomegaly, splenomegaly, jaundice, pneumonitis, fetal growth retardation, petechiae, purpura, and thrombocytopenia. Congenital CMV infection can equally result in major neurological sequelae, including microcephaly, intracranial calcifications, sensorineural hearing loss, chorioretinitis, intellectual and motor disabilities, and seizure disorders. CMV disease sequelae caused by a primary infection are usually more severe than those caused by the reactivation of a latent infection.

244
(68.7%)

Hepatosplenic T-cell lymphoma

Hemolytic anemia Hepatosplenomegaly Splenomegaly

244
(68.7%)

Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome

Hemolytic anemia Hepatitis Recurrent otitis media Splenomegaly

244
(68.7%)

Splenic marginal zone lymphoma

Anemia Cirrhosis Glomerulonephritis Splenomegaly

Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.

244
(68.7%)

Acquired idiopathic sideroblastic anemia

Hepatomegaly Hypertension Normochromic anemia Splenomegaly

A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia.

244
(68.7%)

Pycnodysostosis

Abnormality of the dentition Anemia Hepatosplenomegaly Splenomegaly

Autosomal recessive inheritance

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

251
(68.7%)

Congenital dyserythropoietic anemia type III

Anemia Elevated hepatic transaminase Hyperbilirubinemia Poikilocytosis

Autosomal dominant inheritance Autosomal recessive inheritance

Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.

252
(68.5%)

Vaginal atresia

Absent gallbladder Anemia Fetal ascites Hematuria

252
(68.5%)

IgG4-related mesenteritis

Ascites Cholecystitis Hemolytic anemia Proteinuria

Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).

252
(68.5%)

Actinomycosis

Anemia Ascites Cholecystitis Proteinuria

255
(68.1%)

Vitamin B12-responsive methylmalonic acidemia

Dehydration Hepatomegaly Megaloblastic anemia

An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).

255
(68.1%)

Hereditary pulmonary alveolar proteinosis

Anemia Hepatomegaly Hypoalbuminemia

Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.

255
(68.1%)

Intermediate osteopetrosis

Anemia Hepatosplenomegaly Hypocalcemia

Autosomal recessive inheritance

Intermediate osteopetrosis is a rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.

255
(68.1%)

Hepatocellular adenoma

Cirrhosis Glucose intolerance Hepatomegaly Iron deficiency anemia

Hepatocellular adenoma (HA) is a rare benign tumor of the liver.

255
(68.1%)

Diffuse neonatal hemangiomatosis

Anemia Hepatomegaly Hydrops fetalis

Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.

255
(68.1%)

Thiamine-responsive megaloblastic anemia syndrome

Diabetes mellitus Hepatosplenomegaly Megaloblastic anemia

Autosomal recessive inheritance

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

255
(68.1%)

Subcutaneous panniculitis-like T-cell lymphoma

Anemia Fever Hepatosplenomegaly

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.

255
(68.1%)

Combined immunodeficiency due to ZAP70 deficiency

Autoimmune hemolytic anemia Decreased lymphocyte proliferation in response to mitogen Hepatosplenomegaly

Autosomal recessive inheritance

A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.

255
(68.1%)

Desmoplastic small round cell tumor

Anemia Diabetes mellitus Hepatomegaly

An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.

255
(68.1%)

Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy

Anemia Hepatomegaly Proteinuria

255
(68.1%)

Primary intestinal lymphangiectasia

Edema Hepatosplenomegaly Iron deficiency anemia

Autosomal dominant inheritance

A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children.

255
(68.1%)

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome

Autoimmune hemolytic anemia Hepatosplenomegaly Type I diabetes mellitus

Autosomal dominant inheritance

An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

255
(68.1%)

Monosomy 22

Hepatosplenomegaly Hypochromic microcytic anemia Joint swelling

A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (incl. microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.

255
(68.1%)

Paracoccidioidomycosis

Anemia Edema Hepatosplenomegaly Portal hypertension

255
(68.1%)

Ehrlichiosis

Anemia Diabetes mellitus Hepatosplenomegaly

A group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE).

255
(68.1%)

Shwachman-Diamond syndrome

Anemia Diabetes mellitus Hepatomegaly Portal hypertension

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

255
(68.1%)

Rhabdoid tumor

Anemia Hematuria Hepatomegaly

Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT; see this term).

255
(68.1%)

Cartilage-hair hypoplasia

Anemia Hepatomegaly Hypocalcemia

Autosomal recessive inheritance

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

255
(68.1%)

Pleural mesothelioma

Anemia Hepatomegaly Proteinuria

Somatic mutation

Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.

255
(68.1%)

Central diabetes insipidus

Anemia Hepatosplenomegaly Renal salt wasting

Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI; see these terms).

275
(67.8%)

Alport syndrome

Abdominal situs inversus Dry skin Elliptocytosis Proteinuria

An inherited disease characterised by glomerular nephropathy with hematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomeral basal membrane.

276
(67.5%)

Hemoglobin C-beta-thalassemia syndrome

Anemia Splenomegaly

Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia.

276
(67.5%)

Beta-thalassemia-X-linked thrombocytopenia syndrome

Anemia Splenomegaly

X-linked recessive inheritance

Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.

276
(67.5%)

Combined immunodeficiency due to partial RAG1 deficiency

Autoimmune hemolytic anemia Splenomegaly

Autosomal recessive inheritance

Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.

276
(67.5%)

Ghosal hematodiaphyseal dysplasia

Abnormality of the metaphysis Anemia Splenomegaly

Autosomal recessive inheritance

Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.

276
(67.5%)

Lethal hemolytic anemia-genital anomalies syndrome

Anemia Hypospadias Splenomegaly

A rare syndrome characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.