Gene Summary

Name:
transferrin receptor 2
Synonyms:
Tfr2,  Trfr2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal hemoglobin content Tfr2em1(IMPC)Rbrc HOM Late adult 6.44×10-05
increased mean corpuscular hemoglobin concentration Tfr2em1(IMPC)Rbrc HOM Early adult 5.77×10-06
enlarged heart Tfr2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal mean corpuscular hemoglobin Tfr2em1(IMPC)Rbrc HOM Late adult 1.54×10-21
abnormal heart morphology Tfr2em1(IMPC)Rbrc HOM Late adult 0.00
increased mean corpuscular hemoglobin Tfr2em1(IMPC)Rbrc HOM Early adult 1.37×10-23
increased mean corpuscular volume Tfr2em1(IMPC)Rbrc HOM Early adult 6.83×10-12
abnormal mean corpuscular volume Tfr2em1(IMPC)Rbrc HOM Late adult 4.16×10-20
increased hemoglobin content Tfr2em1(IMPC)Rbrc HOM   Early adult 2.67×10-05
abnormal colon morphology Tfr2em1(IMPC)Rbrc HOM Late adult 0.00
decreased erythrocyte cell number Tfr2em1(IMPC)Rbrc HOM Early adult 1.28×10-06
abnormal mean corpuscular hemoglobin concentration Tfr2em1(IMPC)Rbrc HOM Late adult 6.17×10-06
abnormal liver morphology Tfr2em1(IMPC)Rbrc HOM Late adult 0.00
increased circulating iron level Tfr2em1(IMPC)Rbrc HOM Early adult 5.34×10-43
abnormal rectum morphology Tfr2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal erythrocyte cell number Tfr2em1(IMPC)Rbrc HOM Late adult 1.34×10-07

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

Human diseases caused by Tfr2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Tfr2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Cirrhosis, Increased ... OMIM:604250

The table below shows human diseases predicted to be associated to Tfr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Gracile Syndrome
Decreased transferrin saturation, Elevated hepatic iron concentration, Cirrhosis, Hepatic steatos... ORPHA:53693
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Cholestasis, Increased serum ... OMIM:603358
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... OMIM:616689
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... OMIM:237800
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... OMIM:231100
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test OMIM:229100
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver, Increased circulating copper concentr... ORPHA:209919
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin ORPHA:3319
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... ORPHA:300298
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Sp... OMIM:613313
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Poikilocytosis, ... OMIM:615234
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Neonatal Hemochromatosis
Increased serum iron, Increased circulating ferritin concentration, Congenital hepatic fibrosis, ... ORPHA:446
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Diamond-Blackfan Anemia 12
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... OMIM:615550
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Hyperbilirubinemia, Sple... OMIM:616278
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... OMIM:613673
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Abnormality of iron homeostasis, Elevated hepatic iron concentration,... ORPHA:231222
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... ORPHA:79230
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Infantile Liver Failure Syndrome 1
Hepatomegaly, Macrocytic anemia, Failure to thrive, Anemia, Hepatic steatosis, Acute hepatic fail... OMIM:615438
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia, Abnormal circulating histidine concentration ORPHA:51208
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Atransferrinemia
Abnormality of the liver, Atransferrinemia, Hypochromic anemia OMIM:209300
Candidiasis, Familial, 2
Lymphadenopathy, Hypereosinophilia, Decreased serum iron OMIM:212050
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Failure to thrive, Hyperhomocystinemia, Megaloblastic anemia, Hypomethioninemia OMIM:250940
Refractory Celiac Disease
Hypoproteinemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Hypop... ORPHA:398063
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Failure to thrive, Hyperhomocystinemia, Megaloblastic anemia, Hypomethioninemia OMIM:236270
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Volvulus, Abnormality of the liver, Intussusception, Int... OMIM:112200
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... OMIM:601775
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Cirrhosis, Increased ... OMIM:604250
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration, Cholelithiasis, Eleva... OMIM:300752
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Iiia
Anemia of inadequate production, Macrocytic anemia, Congenital hypoplastic anemia, Jaundice OMIM:105600
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Solitary Rectal Ulcer Syndrome
Rectal prolapse, Stercoral ulcer, Anemia, Anal fissure, Hematochezia ORPHA:209964
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Failure to thrive, Hyperalaninemia, Hyperprolinemia, Splenomegaly, Increased s... OMIM:619046
Porphyria Cutanea Tarda
Increased serum iron, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepa... ORPHA:101330
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia OMIM:300946
Peutz-Jeghers Syndrome
Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Neoplasm of the rectum, Esophageal... ORPHA:2869
Beta-Thalassemia
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Abnormal hemoglobin, Cholelithiasis, An... ORPHA:848
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... OMIM:235700
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Jaundice OMIM:613839
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary he... OMIM:615285
Majeed Syndrome
Erythroid hyperplasia, Failure to thrive, Hepatosplenomegaly, Microcytic anemia, Decreased mean c... OMIM:609628
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration, Decreased circulating cerul... ORPHA:171851
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Leukopenia, Anemia, Pancreatitis, Hyperammonemia, Thrombocytopenia ORPHA:27
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Cleft palate, Mitral valve prolapse, Increased mean... OMIM:612561
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level OMIM:206200
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Hype... ORPHA:71275
Hemochromatosis, Type 2A
Increased serum iron, Hepatomegaly, Splenomegaly, Cirrhosis, Increased circulating ferritin conce... OMIM:602390
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Elevated transferrin saturation, Cirrhosis, Increased circulating ferritin ... OMIM:606069
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Failure to thrive, Pappenheimer bodies, Hypochromic anemia, Sideroblastic ... OMIM:600462
Aceruloplasminemia
Aceruloplasminemia, Hypochromic microcytic anemia, Elevated hepatic iron concentration, Refractor... ORPHA:48818
Orotic Aciduria
Hypochromia, Failure to thrive, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic... OMIM:258900
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Anemia, Abnormal circulating copper concentration OMIM:121270
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia OMIM:615578
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volume... OMIM:277410
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Megaloblastic anemia, Cholelithiasis ORPHA:309108
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... OMIM:616959
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Ethanolaminosis
Cardiomegaly OMIM:227150
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Failure to thrive, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Failure to thrive, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficienc... OMIM:612714
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemia, Hypermanganesemia, Cirrhosis, Decrea... OMIM:613280
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Anemia OMIM:611283
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Anemia, Intussusception, Duode... OMIM:174900
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Increased circulating ferr... OMIM:618963
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Neoplasm of the live... ORPHA:424019
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Gastrointestinal hemor... OMIM:263300
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Aceruloplasminemia
Anemia, Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron OMIM:604290
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... OMIM:619350
Ganglioneuroma
Colorectal polyposis, Functional intestinal obstruction, Gastrointestinal hemorrhage, Abnormal re... ORPHA:251992
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... ORPHA:2169
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... OMIM:618805
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... ORPHA:86839
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Failure to thrive, Reticulocytopenia, Pancytopenia OMIM:275350
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Decreased liver function, Microcytic anemia, Abnormal circulating porp... ORPHA:79278
Gastrointestinal Stromal Tumor
Dysphagia, Gastrointestinal stroma tumor, Neoplasm of the rectum, Neoplasm of the stomach, Neopla... ORPHA:44890
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Abnormal erythrocyte morphology, Megaloblastic anemia, Folate-unresponsive megaloblastic anemia ORPHA:2575
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production OMIM:300367
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Anemia, Elevated hepatic transaminase, Thrombocytopenia, Jaundice ORPHA:858
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Peutz-Jeghers Syndrome
Rectal prolapse, Biliary tract abnormality, Iron deficiency anemia, Gastrointestinal carcinoma, N... OMIM:175200
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Rectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Ne... ORPHA:157794
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Failure to thrive OMIM:613561
Hereditary Folate Malabsorption
Failure to thrive, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosinophilia ORPHA:90045
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis, Pericardial effusion OMIM:260900
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia OMIM:614294
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Failure to thrive, Me... OMIM:277380
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Hepatitis, Decreased serum iron OMIM:614602
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Cog2-Cdg
Decreased liver function, Decreased circulating copper concentration, Decreased circulating cerul... ORPHA:435934
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia OMIM:273680
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Abnormal heart morphology, R... ORPHA:79076
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Failure to thrive, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Macrocytic anemia, Granulocytopenia OMIM:606164
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia OMIM:249270
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Elev... ORPHA:465508
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia, Elevated circulating C-react... OMIM:604416
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly ORPHA:100024
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Rectal prolapse, Schistocytosis, Microangiopathic hemolytic anemia, Peritonitis, Ac... ORPHA:90038
Late-Onset Isolated Acth Deficiency
Hypercalcemia, Hyponatremia, Macrocytic anemia, Normocytic anemia, Failure to thrive, Weight loss... ORPHA:199299
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... ORPHA:2978
Acute Erythroid Leukemia
Leukopenia, Anemia, Bone marrow hypocellularity, Erythroid hypoplasia, Pancytopenia ORPHA:318
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Thrombocytopenia, Sideroblastic anemia OMIM:617021
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Hepatocellular Carcinoma
Thrombocytosis, Hepatomegaly, Esophageal varix, Hemobilia, Polycythemia, Hepatic necrosis, Anemia... ORPHA:88673
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Hypochromic microcytic anemia, Sideroblastic anemia OMIM:301310
Beta-Thalassemia Major
Hepatomegaly, Abnormality of iron homeostasis, Anisopoikilocytosis, Failure to thrive in infancy,... ORPHA:231214
Hemochromatosis, Type 1
Increased serum iron, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Increased ... OMIM:235200
Vexas Syndrome
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia OMIM:301054
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hyperhomocystinemia, Neutropenia, Failure to thrive, Megaloblastic anemia, Elevated circulating p... ORPHA:79284
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Failure to thrive, Weight loss, Hypoca... OMIM:212750
Familial Benign Copper Deficiency
Decreased circulating copper concentration, Anemia ORPHA:1551
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Neutropenia, Leukemia, Pancytopenia, Bone marrow hypocellularity, Acute my... ORPHA:811
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Dysphagia, Abnormal esophagus physiology, Esophageal neoplasm, Abnormal large intes... ORPHA:2198
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, Rectal atresia, Anal atresia OMIM:613390
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Anemia, Cardiomegal... ORPHA:85451
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Microcytic anemia OMIM:618811
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia OMIM:257790
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Decreased circulating ferritin concentration, Polycythemia, Copper accumulation in ... ORPHA:309854
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microcyt... ORPHA:231226
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Diamond-Blackfan Anemia 10
Macrocytic anemia, Anemia, Reticulocytopenia OMIM:613309
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Diabetes Mellitus, Permanent Neonatal, 4
Reduced C-peptide level, Elevated hemoglobin A1c, Small for gestational age OMIM:618858
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Wolfram Syndrome 1
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia OMIM:222300
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Leukopenia OMIM:615715
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Abnormal circulating threonine concentration, Hypoargininemia, Abnormal circul... ORPHA:79096
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia OMIM:194350
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, C... ORPHA:514
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia ORPHA:98673
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemoly... OMIM:618278
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Elevated circulating creatine kinase concentration, Hepatomegaly, Microcytic anemia, Neutropenia OMIM:251900
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Anemia, Duodenal polypo... ORPHA:329971
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... OMIM:603903
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hiatus hernia ORPHA:101009
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Hepatitis, Autoimmune thrombocyt... ORPHA:227990
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production OMIM:614900
Spherocytosis, Type 2
Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosi... OMIM:616649
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Anisopoikilocytosis, Elevated red cell adenosine deaminase level, Stomatocytosis, Hyperuricemia, ... OMIM:102730
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia, ... OMIM:619013
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... OMIM:185000
Radiation Proctitis
Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum morphology, ... ORPHA:70475
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Megarectum, Leukopenia, Double outlet right ventricle, P... OMIM:301056
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Persistence of hemoglobin F, Ac... OMIM:260400
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration ORPHA:521411
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Triosephosphate Isomerase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... OMIM:615512
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Fa... OMIM:277400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cirrhosis, Hepatomegaly, Elevated hepatic iron concentration OMIM:300868
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Niemann-Pick Disease, Type A
Hepatomegaly, Lymphadenopathy, Failure to thrive, Bone-marrow foam cells, Splenomegaly, Elevated ... OMIM:257200
Spherocytosis, Type 1
Hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosi... OMIM:182900
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Ret... OMIM:109270
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Hepatitis, Autoimmune thrombocyt... ORPHA:227982
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c OMIM:610582
Trichohepatoenteric Syndrome 1
Increased serum iron, Hepatomegaly, Abnormality of iron homeostasis, Increased mean platelet volu... OMIM:222470
Pearson Marrow-Pancreas Syndrome
Failure to thrive, Pancreatic fibrosis, Refractory sideroblastic anemia, Small for gestational age OMIM:557000
Lesch-Nyhan Syndrome
Megaloblastic anemia, Hyperuricemia, Hyperuricosuria OMIM:300322
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Diabetes Mellitus, Permanent Neonatal, 1
Reduced C-peptide level, Elevated hemoglobin A1c, Small for gestational age OMIM:606176
Hyperphosphatasia With Mental Retardation Syndrome 1
Cleft palate, Aganglionic megacolon, Abnormal heart morphology, Abnormal rectum morphology, Anter... OMIM:239300
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Decreased serum iron ORPHA:391372
Cystic Fibrosis
Cor pulmonale, Hepatomegaly, Rectal prolapse, Pancreatitis, Cirrhosis, Hepatosplenomegaly, Steato... OMIM:219700
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis OMIM:187800
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Mitral atresia, Doub... OMIM:306955
Pseudo-Torch Syndrome 3
Cardiomegaly, Leukocytosis, Anemia, Congenital thrombocytopenia OMIM:618886
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Thrombocytopenia, Elevated hepatic... OMIM:300972
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, HbH hemoglobin, Microcytic anemia ORPHA:98791
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Failure to thrive, Megaloblastic anemia, Hypoglycinemia, Hyposerinemia ORPHA:79351
Majeed Syndrome
Leukocytosis, Hepatomegaly, Cachexia, Hypochromic microcytic anemia, Failure to thrive, Congenita... ORPHA:77297
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Bone marrow hypocellularity, Elevated alpha-fetoprotein, Thrombocytopenia OMIM:617243
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Hepatomegaly, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Small for gestational age OMIM:619278
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Ichthyosis And Male Hypogonadism
Hyperchromic macrocytic anemia OMIM:308200
Blue Rubber Bleb Nevus
Microcytic anemia ORPHA:1059
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Elevated hepatic transa... OMIM:617713
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal stenosi... ORPHA:424016
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonem... ORPHA:1667
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia, Jaundice OMIM:268150
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Peritoneal abscess, Hypoplasia of the thymus, Gastrointestinal atresia... ORPHA:436252
Syndromic Diarrhea
Hepatomegaly, Abnormality of iron homeostasis, Increased mean platelet volume, Thrombocytosis, He... ORPHA:84064
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Asplenia, Duodenal steno... ORPHA:210122
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Cholestasis, Pulmonic valve myxoma, Jaundice ORPHA:615
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Decreased carnitine level in liver, Endocardial fibroe... OMIM:212140
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Cardiomegaly OMIM:618654
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Bone-marrow foam cells, Cardiomyopathy, Splen... OMIM:256550
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Failure to thrive, Weight loss, Thi... ORPHA:85138
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microcytic anemia OMIM:612379
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Failure to thrive, M... ORPHA:79282
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Hepatic steatos... OMIM:201475
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Normochromic microcytic anemia OMIM:610198
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Elevated circulating creatine kinase concentration, Normochromic anemi... OMIM:618775
Combined Oxidative Phosphorylation Deficiency 53
Failure to thrive, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochrom... OMIM:619423
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Failure to thrive in infancy, Normocytic hypoplastic anem... OMIM:610377
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Thymoma
Imbalanced hemoglobin synthesis, Neoplasm of the gastrointestinal tract, Leukemia, Pure red cell ... ORPHA:99867
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Microgastria, Hepatomegaly, Truncus arteriosus, Perineal fistula, Rect... ORPHA:2538
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Castleman Disease
Thrombocytopenia, Decreased mean corpuscular volume, Elevated circulating C-reactive protein conc... ORPHA:160
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Elevated he... OMIM:600649
Myopathy With Lactic Acidosis, Hereditary
Elevated circulating creatine kinase concentration, Sideroblastic anemia OMIM:255125
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Juvenile gastrointestinal polyposis, Neoplasm of the rectum, Stomach cancer... ORPHA:480536
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... ORPHA:263665
Shwachman-Diamond Syndrome 2
Hepatomegaly, Normocytic anemia, Neutropenia, Thrombocytopenia, Failure to thrive, Hyperechogenic... OMIM:617941
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Rectal prolapse, Pericardial effusion, Intestinal lymphangiectasia, Na... OMIM:235510
Plummer-Vinson Syndrome
Iron deficiency anemia, Decreased circulating ferritin concentration, Hypochromic microcytic anemia ORPHA:54028
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Decreased serum zinc, Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hepat... ORPHA:541423
Dubowitz Syndrome
Acute lymphoblastic leukemia, Rectal prolapse, High palate, Anemia, Malabsorption, Thrombocytopen... ORPHA:235
Dermatitis Herpetiformis
Microcytic anemia ORPHA:1656
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Srd5A3-Cdg
Elevated hepatic transaminase, Microcytic anemia ORPHA:324737
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypochromic microcytic anemia, Small for gestational age, Failure to thrive, Anemia, Hyperalanine... OMIM:619147
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252920
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Microglossia, Cardiomegaly, Myocardial fibrosis OMIM:253250
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Ventricular septal defect, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Mac... OMIM:301040
Acatalasemia
Microcytic anemia ORPHA:926
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomegaly OMIM:616084
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, High palate, Hypochromic microcytic anemia, Macroglossia, HbH... OMIM:141750
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... ORPHA:860
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Cirrhosis, Thymoma, Exocrine panc... OMIM:269200
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia OMIM:618972
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Aganglionic megacolon, Macroglossia, Volvulus, Anemia, Abnormal hemoglobin, Gastroesophageal reflux ORPHA:847
Wilson Disease
Hemolytic anemia, Hepatomegaly, Hepatocellular carcinoma, Cirrhosis, Hepatic failure, High noncer... OMIM:277900
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Elevated hemogl... OMIM:618620
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly OMIM:619064
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Klippel-Trénaunay Syndrome
Hepatomegaly, Microcytic anemia ORPHA:90308
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Abnormal circulating eicosanoid concentration, Decreased circulating 12-H... OMIM:618372
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Dysphagia, Anemia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic failure,... OMIM:608013
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Biliary tract obstruction, Biliary cirrhosis, Megaloblastic anemia, Exocrine pancreatic insuffici... OMIM:219721
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... OMIM:115197
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia OMIM:226300
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Perineal fistula, Rectal atresia, Anal atresia ORPHA:3016
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Gastroesophageal reflux, Rectal prolapse, Patent foramen ovale OMIM:613177
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Anemia, Decreased serum iron, Abnormal circulating selenium concentration, ... ORPHA:89842
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hepatic steatosis OMIM:255120
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Splenomegaly, Impaired oxidative burst, Rectal abscess, Granulomatosis, Liver abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Splenomegaly, Impaired oxidative burst, Rectal abscess, Granulomatosis, Liver abscess OMIM:233710
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Elevated circulating C-reactive protein concentration, Hypochromic mi... OMIM:619632
Familial Colorectal Cancer Type X
Neoplasm of the rectum, Stomach cancer, Hepatocellular carcinoma, Pancreatic adenocarcinoma, Neop... ORPHA:440437
Eisenmenger Syndrome
Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia, Abnorma... ORPHA:97214
Polymerase Proofreading-Related Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Adenocarcinoma of th... ORPHA:447877
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Abetalipoproteinemia
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Acanthocytosis, Anemia, Cardiomega... ORPHA:14
Alpha-N-Acetylgalactosaminidase Deficiency
Gastroesophageal reflux, Cardiomegaly ORPHA:3137
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Cleft palate, Increased hepatic ... OMIM:614921
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Splenomegaly, Impaired oxidative burst, Rectal abscess, Granulomatosis, Liver abscess OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Splenomegaly, Impaired oxidative burst, Rectal abscess, Granulomatosis, Liver abscess OMIM:233690
Lynch Syndrome
Neoplasm of the rectum, Hepatocellular carcinoma, Pancreatic adenocarcinoma, Neoplasm of the panc... ORPHA:144
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Hepatitis, Anemia, Cholestatic liver disease, Cholestasis, Portal ... ORPHA:440713
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, High palate, Hypoplasia of the thymus, Cardiomegaly, Narrow palate, Ov... OMIM:617022
Fumarase Deficiency
Polycythemia, High palate, Cholestasis, Hepatic failure OMIM:606812
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly, Decreased liver function, Hepatic steatosis, Elevated hepatic transam... ORPHA:42
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Failure to thrive in infancy, Neutropenia, Cachexia, Neutropenia in p... ORPHA:37042
Progeria-Short Stature-Pigmented Nevi Syndrome
Small for gestational age, Neoplasm of the pancreas, Hepatic steatosis, Microcytic anemia, Elevat... ORPHA:2959
Li-Fraumeni Syndrome
Colorectal polyposis, Acute lymphoblastic leukemia, Neoplasm of the rectum, Stomach cancer, Neopl... ORPHA:524
Vipoma
Hypercalcemia, Hepatomegaly, Hypokalemia, Normochromic anemia, Weight loss, Neoplasm of the pancr... ORPHA:97282
Timothy Syndrome
Cardiomegaly, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Heart Defects, Congenital, And Other Congenital Anomalies
Ventricular septal defect, Colon perforation, Truncus arteriosus, Pancreatic hypoplasia, Hypoplas... OMIM:600001
Non-Syndromic Anorectal Malformation
Ectopic anus, Rectovaginal fistula, Anal atresia, Anorectal anomaly, Rectourethral fistula, Persi... ORPHA:557
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Aarskog Syndrome, Autosomal Dominant
Cirrhosis, Hepatomegaly, Macrocytic anemia OMIM:100050
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colo... ORPHA:247798
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Failure to thrive, Weight loss, Hyp... ORPHA:95409
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration, Nodular re... ORPHA:247691
Mogs-Cdg
Hepatomegaly, High palate, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial... ORPHA:79330
Fucosidosis
Hepatomegaly, Macroglossia, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:230000
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prolapse, Abnormality of the an... ORPHA:2556
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Elevated circulating glutaric ac... ORPHA:66634
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Craniofaciofrontodigital Syndrome
Pyloric stenosis, Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Macrogl... ORPHA:363705
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:618652
Glycogen Storage Disease Ii
Macroglossia, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Rectal abscess OMIM:116920
Lysinuric Protein Intolerance
Hyperglycinemia, Hyperammonemia, Increased circulating ferritin concentration, Hepatosplenomegaly... ORPHA:470
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Portal hypertension, Microcolon, Intestinal malrotation OMIM:619431
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Intestinal malrotation, Neoplasm of the heart, Hypoperistalsis, Abnormality of the gastrointestin... ORPHA:2241
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Hepatic calcification, High palate, Lipid accumulation in h... OMIM:608836
Glucagonoma
Hypercalcemia, Hepatomegaly, Acanthocytosis, Normochromic anemia, Weight loss, Neoplasm of the pa... ORPHA:97280
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Iron deficiency anemia, Weight loss, Chronic noninfectious lymphadenopathy, Hepatic... ORPHA:100075
Acquired Von Willebrand Syndrome
Refractory anemia, Normocytic anemia, Hypochromic anemia ORPHA:99147
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... OMIM:300257
Waldenström Macroglobulinemia
Hepatomegaly, Normocytic anemia, Leukemia, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils ORPHA:33226
Congenital Tufting Enteropathy
Villous atrophy, Malabsorption, Anal atresia, Abnormal small intestinal mucosa morphology, Choles... ORPHA:92050
Slc39A8-Cdg
Abnormality of the liver, Abnormal blood zinc concentration, Hypomanganesemia ORPHA:468699
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, An... ORPHA:447
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion OMIM:239850
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Dysphagia, Cardiomegaly, Gastrointestinal dysmotility ORPHA:391428
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morphology, Aortic valve ste... ORPHA:324410
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Leprechaunism
Hypertrophic cardiomyopathy, Hepatomegaly, Megarectum, Rectal prolapse, Enlarged ovaries, Enlarge... ORPHA:508
Kearns-Sayre Syndrome
Sideroblastic anemia OMIM:530000
Ileal Neuroendocrine Tumor
Lymphadenopathy, Iron deficiency anemia, Weight loss, Extrahepatic cholestasis, Hepatic failure, ... ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy, Iron deficiency anemia, Weight loss, Extrahepatic cholestasis, Hepatic failure, ... ORPHA:100077
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Ileus, Splenomegaly, Microcolon ORPHA:163746
Leukocyte Adhesion Deficiency Type Ii
Leukocytosis, Hepatomegaly, Small for gestational age, Failure to thrive, Anemia, Neutrophilia, M... ORPHA:99843
Sandhoff Disease
Macroglossia, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase, Failure to thrive, B... OMIM:619525
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Pancreatic hypoplasia, Retroperit... OMIM:602782
Von Hippel-Lindau Syndrome
Polycythemia, Neoplasm of the pancreas, Pancreatic cysts, Abnormality of the liver OMIM:193300
Scleroderma
Myocarditis, Pericarditis, Abnormality of the small intestine, Abnormal large intestine morpholog... ORPHA:801
Adenohypophysitis
Hyponatremia, Normochromic anemia ORPHA:95512
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Cirrhosis, Microcytic anemia, Hepatic failure, Cholecystitis, Portal hypertension ORPHA:774
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Pancreatic adenocarcinoma, Duodenal adenoc... ORPHA:454840
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Cardiomegaly OMIM:616897
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... ORPHA:330015
Somatostatinoma
Hypercalcemia, Hepatomegaly, Hypochromic microcytic anemia, Gallbladder dysfunction, Weight loss,... ORPHA:97283
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Cirrhosis, Rig... ORPHA:57777
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia, High nonceruloplasmin-bound serum copper ORPHA:457351
H Syndrome
Lymphadenopathy, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Histiocytosis ORPHA:168569
Hamamy Syndrome
Microcytic anemia, Hypochromic anemia OMIM:611174
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Intestinal pseudo-obstruction, Pancreatitis, Micr... OMIM:155310
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Poems Syndrome
Polycythemia, Thrombocytosis, Pericardial effusion, Visceromegaly ORPHA:2905
Williams Syndrome
Hypertrophic cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Abnormal endocardi... ORPHA:904
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased s... OMIM:618885
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia ORPHA:293967
Beck-Fahrner Syndrome
Ventricular septal defect, High palate, Cardiomegaly OMIM:618798
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Exocrine pancreatic insufficiency, Weight loss ORPHA:309031
Pituitary Apoplexy
Hyponatremia, Normochromic anemia ORPHA:95613
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Hepatomegaly, Hepatic calcification, Cardiomegaly, Cardiomyopathy, Hepatic s... ORPHA:228308
Panhypophysitis