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.
Orphanet:822
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GTR:C0221409
GTR:C0037889
|
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.
Orphanet:232
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KEGG:H00229
Gene Reviews
GTR:C0002895
|
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.
Orphanet:766
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KEGG:H01096
GTR:C0340968
|
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.
Orphanet:288
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GTR:C0013902
|
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.
Orphanet:846
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GTR:C0002312
GTR:C1456873
|
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).
Orphanet:848
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GTR:C0005283
|
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.
Orphanet:39812
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GTR:C0018133
|
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.
Orphanet:729
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GTR:C0032463
|
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.
Orphanet:97280
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GTR:C0017689
|
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.
Orphanet:234
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KEGG:H02056
GTR:C0022350
|
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.
Orphanet:635
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GTR:C0027819
GTR:C2931189
|
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.
Orphanet:98826
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GTR:C0002893
|
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.
Orphanet:824
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GTR:C0001815
GTR:C0026987
|
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.
Orphanet:46059
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KEGG:H01281
GTR:C1846421
|
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.
Orphanet:66518
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|
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.
Orphanet:251066
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|
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.
Orphanet:2882
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KEGG:H00152
Gene Reviews
GTR:C0342907
|
17 (80.2%)
|
Acute panmyelosis with myelofibrosis
|
Anemia
Hepatosplenomegaly
Hypercalcemia
Poikilocytosis
Splenomegaly
Orphanet:86843
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GTR:C0334674
|
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.
Orphanet:31150
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KEGG:H00159
GTR:C0039292
|
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.
Orphanet:791
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GTR:C0035334
|
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.
Orphanet:98879
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GTR:C0008533
|
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.
Orphanet:2388
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KEGG:H00832
KEGG:H01432
Gene Reviews
GTR:C0393576
|
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.
Orphanet:379
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GTR:C0018203
|
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).
Orphanet:90033
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GTR:C0272118
|
24 (78.4%)
|
Neonatal lupus erythematosus
|
Anemia
Fever
Jaundice
Splenomegaly
Orphanet:398124
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GTR:C0409979
|
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.
Orphanet:333
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KEGG:H00138
Gene Reviews
GTR:C2936785
GTR:C0268255
|
24 (78.4%)
|
Hemophagocytic syndrome associated with an infection
|
Anemia
Fever
Jaundice
Splenomegaly
Orphanet:158048
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GTR:C0019068
|
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).
Orphanet:56425
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GTR:C0175816
|
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.
Orphanet:290
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GTR:C0035921
|
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.
Orphanet:108
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GTR:C0004576
|
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.
Orphanet:160
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GTR:C0017531
GTR:C2931179
|
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.
Orphanet:1656
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GTR:C0011608
|
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.
Orphanet:1959
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GTR:C0272126
|
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.
Orphanet:2070
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GTR:C1262481
GTR:C2062326
|
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.
Orphanet:781
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GTR:C0034362
GTR:C2973787
|
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.
Orphanet:905
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KEGG:H00210
Gene Reviews
GTR:C0019202
|
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.
Orphanet:86850
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GTR:C0152276
|
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.
Orphanet:342
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GTR:C0031069
GTR:C0585274
|
24 (78.4%)
|
Idiopathic hypereosinophilic syndrome
|
Anemia
Diabetes mellitus
Jaundice
Splenomegaly
Somatic mutation
Sporadic
Orphanet:3260
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KEGG:H01599
GTR:C0206141
|
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.
Orphanet:131
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KEGG:H01433
GTR:C0019154
GTR:C0856761
|