Gene Summary

Name:
eukaryotic translation initiation factor 2 alpha kinase 1
Synonyms:
Hri

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
decreased total body fat amount Eif2ak1em1(IMPC)Bay HOM Early adult 6.86×10-05
preweaning lethality, incomplete penetrance Eif2ak1em1(IMPC)Bay HOM Early adult 0.00
increased spleen weight Eif2ak1em1(IMPC)Bay HOM Early adult 9.81×10-06

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Viewing: all phenotypes

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.

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

Eye Morphology

VIP of right fundus

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Forepaw

7 Images

Human diseases caused by Eif2ak1 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 Eif2ak1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
OMIM:618878

The table below shows human diseases predicted to be associated to Eif2ak1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Increased circulating ferritin concentration, Hypochromia OMIM:205950
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Neutropenia, Anemia... OMIM:615285
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Refractory Anemia
Bone marrow hypocellularity, Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anisocytosis, Reduced red cell pyruva... ORPHA:766
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Positive ferric chloride test OMIM:229100
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Formiminoglutamic Aciduria
Abnormal circulating histidine concentration, Megaloblastic anemia, Atrial septal defect, Anemia ORPHA:51208
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Ventricular septal defect, Macrocytic anemia, Reticu... OMIM:615550
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia,... OMIM:615234
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... ORPHA:3202
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of... OMIM:237800
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... ORPHA:86841
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Abnormal erythrocyte... ORPHA:98870
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Abnormal cardiac septum morphology ORPHA:3319
Diamond-Blackfan Anemia 4
Atrial septal defect, Neutropenia, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Macrocy... OMIM:617780
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Hepa... OMIM:613313
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Abnormality of iron h... ORPHA:848
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Macrocytic anemia, Atrial septal defect, Increased mean corpuscular volume, ... OMIM:612561
Diamond-Blackfan Anemia 5
Leukopenia, Ventricular septal defect, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia OMIM:612528
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Anisocytosis, Splenomegaly, Con... OMIM:616860
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia, Hepatomegaly OMIM:613977
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia OMIM:300946
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia ... OMIM:615631
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Hepatomegaly, Anemia, Cardiomyopathy, Macrocytic anemia, Thrombocytopenia, Hyperammon... ORPHA:27
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Atransferrinemia
Hypochromic anemia, Atransferrinemia OMIM:209300
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Decreased plasma carnitine, Dilated cardiomyopathy OMIM:611283
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia OMIM:250940
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia OMIM:236270
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperprolinemia, Increased serum pyruvate, Splenomegaly, Cardiomyopathy, Macrocytic anemia, Hyper... OMIM:619046
Infantile Liver Failure Syndrome 1
Anemia, Hepatomegaly, Macrocytic anemia OMIM:615438
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
Orotic Aciduria
Poikilocytosis, Folate-unresponsive megaloblastic anemia, Atrial septal defect, Anisocytosis, Imp... OMIM:258900
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Bone marrow hypocellularity, No... ORPHA:75564
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia OMIM:615578
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Increased serum iron, Anemia, E... ORPHA:300298
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly OMIM:613839
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... OMIM:609628
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatomegaly, Elevated transferrin saturation, Anem... OMIM:606069
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Splenomegaly, Hepatomegaly, Iron deficiency anemia, Hype... OMIM:616278
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Megaloblastic anemia, Thrombocytopenia, Ventricular septal defect ORPHA:49827
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly OMIM:224100
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Extramedullary hematopoiesis OMIM:612840
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Megaloblastic anemia, Methylmalonic acidemia, Increased mean corpuscular vol... OMIM:277410
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Dextrocardia, Macrocytic anemia OMIM:614294
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Reduced haptoglobin level, Anisocytosis, Spherocytosis, He... ORPHA:71275
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Increased HbA2 hemoglobin, Abnormal... ORPHA:231222
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Reduced natural killer cell activity, Hemophagocytosis, Ane... OMIM:608898
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Thiamine-resp... OMIM:249270
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration OMIM:300752
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration, Abnormal circulating copper concentration OMIM:121270
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Hepatomegaly, Spherocytosis, A... ORPHA:822
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Hypereosinophilia, Increased circulating IgE level OMIM:212050
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Folate-unresponsive megaloblastic anemia, Megaloblastic anemia, Abnormal erythrocyte morphology ORPHA:2575
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia, Myocardial eosinophilic infiltration OMIM:131400
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Hepatomegaly, Anemi... ORPHA:824
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Bone marrow hypocellularity, Acute myel... ORPHA:86839
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Hepatomegaly OMIM:618852
Aceruloplasminemia
Decreased serum iron, Anemia, Increased circulating ferritin concentration, Aceruloplasminemia OMIM:604290
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular vo... OMIM:611590
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis OMIM:166910
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcytic anemia, Hypochromic anemia, Increased circulating ferritin concentration, Sideroblasti... OMIM:600462
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Neutrophilia, Abn... OMIM:608203
Transcobalamin Ii Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:275350
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Methylcobalamin Deficiency Type Cble
Pancytopenia, Hyperhomocystinemia, Neutropenia, Increased mean corpuscular volume, Macrocytic ane... ORPHA:2169
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Anemia, Congenital Dyserythropoietic, Type Iiia
Anemia of inadequate production, Congenital hypoplastic anemia, Macrocytic anemia OMIM:105600
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Reticulocyt... OMIM:235700
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia ORPHA:318
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Nephronophthisis
Anemia ORPHA:655
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Neutropenia, Increased mean corpuscular volume, Ventricular septal defect, S... OMIM:612562
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:259710
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Poikilocytosis, Acanthocytosis OMIM:300367
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231226
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Pancreatic Colipase Deficiency
Megaloblastic anemia ORPHA:309108
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Granulocytopenia, Macrocytic anemia OMIM:606164
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Elevated circulating C-react... OMIM:604416
Erythrocytosis, Familial, 8
Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Polycythemia, Normochromic anemia OMIM:222800
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia, Ventricular septal defect OMIM:617021
Familial Benign Copper Deficiency
Anemia, Decreased circulating copper concentration ORPHA:1551
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia OMIM:257790
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Neutropenia, Anemia, Bicuspid aortic valve, Anemia of inadequate pro... OMIM:614900
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:615715
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Dilated cardiomyopathy, Splenomegaly, Hepatomegaly,... OMIM:602390
Vexas Syndrome
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia OMIM:301054
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Wolfram Syndrome 1
Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Cardiomyopathy OMIM:222300
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly OMIM:618838
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Hemochromatosis Type 2
Increased circulating ferritin concentration, Dilated cardiomyopathy, Elevated transferrin satura... ORPHA:79230
Diamond-Blackfan Anemia 10
Steroid-responsive anemia, Anemia, Ventricular septal defect, Macrocytic anemia, Reticulocytopenia OMIM:613309
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Impaired neutrophil chemotaxis, Bone marrow hypocellularity, Normocytic... ORPHA:811
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Polycythemia, Unconjugate... OMIM:613280
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:601859
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Ethanolaminosis
Cardiomegaly OMIM:227150
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia, Total anomalous pulmonary venous return OMIM:618313
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Triosephosphate Isomerase Deficiency
Normocytic anemia, Splenomegaly, Chronic hemolytic anemia, Hemolytic anemia, Macrocytic anemia, N... OMIM:615512
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Hyperhomocystinemia, Megaloblastic anemia, Methylmalonic acidemia, Neutropenia, Cys... OMIM:277380
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:251900
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:616435
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Dilated cardiomyopathy, Hepatomegaly, Hypoalbuminemia OMIM:618805
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Abnormal circulating porphyrin concentration ORPHA:79278
Wt Limb-Blood Syndrome
Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia OMIM:194350
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia, Anemia of inadequate production, Splenomegaly, Hepatomegaly OMIM:612714
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Atrial septal defect, Erythroid hypoplasia, Acute myeloid leukemia, E... ORPHA:124
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Hypochromic microcy... OMIM:259720
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Increased circulating anti... OMIM:202700
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259730
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hyperhomocystinemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentratio... ORPHA:79284
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Cartilage-Hair Hypoplasia
Congenital hypoplastic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutro... OMIM:250250
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:613561
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Fetal Parvovirus Syndrome
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia ORPHA:295
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia ORPHA:98673
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Congenital Toxoplasmosis
Anemia, Cardiomegaly, Thrombocytopenia, Hepatomegaly ORPHA:858
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Dilated cardiomyopathy, Thrombocytopenia, Ventricular septal d... ORPHA:261250
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Anisocytosis, Hepatomegaly, Ch... OMIM:618278
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Glycogen Storage Disease Xii
Normochromic anemia, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia OMIM:611881
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Hypocalcemia, Decreased circulating IgA level, Iron deficiency anemia, Macrocytic... OMIM:212750
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirub... ORPHA:79303
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Bone marrow hypocellularity, Neutropenia, Anemia, Thrombocytopenia OMIM:617243
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperuricemia, Macrocytic anemia ORPHA:199299
Pyridoxal Phosphate-Responsive Seizures
Hypoargininemia, Abnormal circulating tyrosine concentration, Pyridoxine-responsive sideroblastic... ORPHA:79096
Lesch-Nyhan Syndrome
Megaloblastic anemia, Hyperuricemia, Hyperuricosuria OMIM:300322
Blue Rubber Bleb Nevus
Microcytic anemia ORPHA:1059
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Anemia, Cardiomegaly, Congenital thro... OMIM:618886
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Hepa... ORPHA:465508
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia OMIM:619013
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Decreased circulating cerulop... ORPHA:48818
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Hypertrophic cardiomyopathy, ... ORPHA:85451
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiom... OMIM:235200
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Ichthyosis And Male Hypogonadism
Hyperchromic macrocytic anemia OMIM:308200
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Extramedullary hematopoiesis ORPHA:313855
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:603909
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hyperhomocystinemia, Megaloblastic anemia, Methylmalonic acidemia, Neutropenia, Cystathioninemia,... OMIM:277400
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Hyperuricemia ORPHA:371
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Noncompaction cardiomyopathy, Normochromic microcytic anemia OMIM:610198
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Leukopenia, Autoimmune thrombocytopenia, Decreased circulating ... ORPHA:227990
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, Decreased circulating antibody level, Cardiom... OMIM:616084
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies, Secundum atrial septal defect OMIM:223350
Immunodeficiency 89 And Autoimmunity
Increased circulating IgG level, Decreased eosinophil count, Increased circulating IgA level, Ele... OMIM:619632
Lesch-Nyhan Syndrome
Anemia, Hyperuricemia ORPHA:510
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Reduced subcuta... OMIM:612526
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Decreased circulating ferritin concentration, Hypertrophic cardiomyopathy, Splenome... ORPHA:309854
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis OMIM:616649
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:612653
Syndromic Diarrhea
Tetralogy of Fallot, Thrombocytosis, Atrial septal defect, Splenomegaly, Hepatomegaly, Abnormalit... ORPHA:84064
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Anemia, Acute monocytic leukemia, Lymphocytosis ORPHA:514
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Iron deficiency anemia, Abnormal circulating eicosanoid concentrat... OMIM:618372
Myopathy With Lactic Acidosis, Hereditary
Elevated circulating creatine kinase concentration, Sideroblastic anemia OMIM:255125
Adenosine deaminase, elevated, hemolytic anemia due to
Hyperuricemia, Elevated red cell adenosine deaminase level, Hemolytic anemia, Anisopoikilocytosis... OMIM:102730
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Leukopenia, Autoimmune thrombocytopenia, Decreased circulating ... ORPHA:227982
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Thrombocytosis, Hypermethioninemia, Hepatomegaly, Pulmonic stenosis, Abnorma... OMIM:222470
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Ventricular sept... OMIM:618775
Dermatitis Herpetiformis
Microcytic anemia ORPHA:1656
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Megaloblastic anemia, Hyposerinemia, Hypoglycinemia ORPHA:79351
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Cardiomegaly OMIM:269920
Acatalasemia
Microcytic anemia ORPHA:926
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Thrombocytosis, Decreased circulating antibody level, Hepatomegaly, Iron deficie... OMIM:226300
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Elliptocytosis... OMIM:109270
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia OMIM:618972
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Anemi... OMIM:618398
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia OMIM:612379
Hereditary Elliptocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Congenital hemolytic anemia, Abnormal erythrocyte... ORPHA:288
Eisenmenger Syndrome
Tetralogy of Fallot, Aortopulmonary window, Atrial septal defect, Abnormal B-type natriuretic pep... ORPHA:97214
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperhomocystinemia, Dilated cardiomyopathy, Megaloblastic anemia, Methylmalonic acidemia, Elevat... ORPHA:79282
Klippel-Trénaunay Syndrome
Microcytic anemia, Atrial septal defect, Hepatomegaly, Abnormal tricuspid valve morphology ORPHA:90308
Spherocytosis, Type 5
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612690
Plummer-Vinson Syndrome
Decreased circulating ferritin concentration, Iron deficiency anemia, Hypochromic microcytic anemia ORPHA:54028
Sickle Cell Anemia
Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Hepatomegaly, Hemolytic anemia,... OMIM:603903
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Castleman Disease
Elevated circulating C-reactive protein concentration, Anemia, Restrictive cardiomyopathy, Decrea... ORPHA:160
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Decreased hepcidin level, Elevated hepatic iron con... ORPHA:101330
Spherocytosis, Type 1
Splenomegaly, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:182900
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Decreased serum zinc, Decreased serum iron, Decreased plasma carnitine, A... ORPHA:89842
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect OMIM:619769
Srd5A3-Cdg
Microcytic anemia ORPHA:324737
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Combined Oxidative Phosphorylation Deficiency 53
Elevated circulating C-reactive protein concentration, Hepatomegaly, Hypochromic microcytic anemia OMIM:619423
Wolcott-Rallison Syndrome
Hyponatremia, Atrial septal defect, Hepatomegaly, Double outlet right ventricle, Neutropenia, Iro... ORPHA:1667
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Decreased serum iron, Abnormal heart morphology ORPHA:391372
Niemann-Pick Disease, Type A
Microcytic anemia, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis OMIM:257200
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Leukopenia, Decreased serum iron, Reduced haptoglobin level, Increased blood urea n... ORPHA:447
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:85138
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Elevat... OMIM:610377
Neuraminidase Deficiency
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Cardiomyopathy, Cardi... OMIM:256550
Immunodeficiency 47
Decreased circulating total IgM, Chronic decreased circulating total IgG, Leukopenia, Normocytic ... OMIM:300972
Kearns-Sayre Syndrome
Sideroblastic anemia, Cardiomyopathy OMIM:530000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Acquired Von Willebrand Syndrome
Hypochromic anemia, Normocytic anemia, Pulmonic stenosis, Aortic valve stenosis, Refractory anemia ORPHA:99147
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Cardiomegaly, L... OMIM:617713
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Hepatomegaly, Neutropenia, Anemia, Myocardial necrosis, Per... OMIM:260400
Proteasome-Associated Autoinflammatory Syndrome 4
Flexion contracture, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Generalized lipodys... OMIM:619183
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612926
Majeed Syndrome
Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Hepatomegaly, Hypochromic microcytic a... ORPHA:77297
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Megaloblastic anemia, Cor pulmonale OMIM:219721
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Hypoplastic anemia, Hepatome... OMIM:557000
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Wilson Disease
High nonceruloplasmin-bound serum copper, Hemolytic anemia, Hepatomegaly OMIM:277900
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Extramedullary hematopoiesis ORPHA:2886
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Normochromic microcytic anemia, Muscular ventricular septal defect, Eleva... ORPHA:66634
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Decreased circulating antibody level, Aplastic anemia,... ORPHA:99867
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Anemia, Increased serum pyruvate, Hyperalaninemia, Hypochromic microcytic anemia OMIM:619147
Gracile Syndrome
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Decreased tran... ORPHA:53693
Trichohepatoenteric Syndrome 2
Decreased serum iron, Hepatomegaly OMIM:614602
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
Shwachman-Diamond Syndrome 2
Neutropenia, Hepatomegaly, Thrombocytopenia, Normocytic anemia OMIM:617941
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased mean platelet volume, Decreased circulating total IgM, Increased circulating IgA level,... OMIM:600903
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomega... OMIM:231005
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normochromic anemia, Elevated circulating creatinine concentration, Cardiomyopathy, Normocytic an... ORPHA:247691
African Iron Overload
Increased circulating ferritin concentration, Hepatomegaly, Elevated transferrin saturation, Abno... ORPHA:139507
Aarskog Syndrome, Autosomal Dominant
Hepatomegaly, Macrocytic anemia OMIM:100050
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly, Hyperalaninemia OMIM:619170
Lysinuric Protein Intolerance
Anemia, Thrombocytopenia, Hyperammonemia, Decreased HDL cholesterol concentration, Increased circ... ORPHA:470
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Hypocalcemia, Ventricular septal defect, Cardiomegaly OMIM:601005
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Splenomegaly, Hepatomegaly, Impaired T cell function OMIM:201100
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Waldenström Macroglobulinemia
Monoclonal immunoglobulin M proteinemia, Leukemia, Normocytic anemia, Splenomegaly, Hepatomegaly,... ORPHA:33226
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Decreased plasma carnitine, Hepatomegaly... OMIM:212140
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Ventricular septal defect, Perimembranous ventricular septal defect, Reduced alph... OMIM:301040
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:252920
Hamamy Syndrome
Microcytic anemia, Atrial septal defect, Hypochromic anemia OMIM:611174
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperprolinemia, Cardiomegaly, Hyperalaninemia OMIM:619064
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... OMIM:600649
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Abnormal blood i... ORPHA:37042
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholestero... OMIM:618885
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Cardiomegaly, Thrombocytopenia OMIM:608013
Adenohypophysitis
Normochromic anemia, Hyponatremia ORPHA:95512
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Biventricular hypertrophy, Abnormal mi... ORPHA:860
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, Atrial sept... ORPHA:79330
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia ORPHA:293967
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Hypochromic anemia, Increased circulating IgG level, Leukocytosis, T... OMIM:618213
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardi... OMIM:255120
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:95409
H Syndrome
Microcytic anemia, Enlarged kidney, Hepatosplenomegaly, Histiocytosis, Hypertriglyceridemia ORPHA:168569
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Hyperalaninemia, Hyperammonemia OMIM:619051
Abetalipoproteinemia
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hepatomegaly, Acanthocytosis, Anemi... ORPHA:14
Isolated Sedoheptulokinase Deficiency
Anemia, Hypochromic microcytic anemia ORPHA:440713
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, High nonceruloplasmin-bound serum copper, Thrombocytopenia ORPHA:457351
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly, Jaundice OMIM:611804
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal platelet function, Abnormal eosinophil morphology, ... ORPHA:906
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Increased LDL cholesterol concentration, Increased circu... ORPHA:330015
Pituitary Apoplexy
Normochromic anemia, Hyponatremia ORPHA:95613
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased circulating total IgM, Eosinophilia, Increased circulat... OMIM:301000
Panhypophysitis
Normochromic anemia, Hyponatremia ORPHA:95513
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia ORPHA:2959
Mulibrey Nanism
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Hepatomegaly OMIM:601979
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Leukocytosis, Neutrophilia, Hepatomegaly, Anemia, Abnormal isohemagglutinin level ORPHA:99843
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Hepatomegaly, Elevated circulating creatine kinase concentratio... ORPHA:42
Non-Functioning Pituitary Adenoma
Anemia of inadequate production ORPHA:91349
Arthrogryposis Multiplex Congenita 5
Poikilocytosis, Normocytic anemia, Acanthocytosis OMIM:618947
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:171851
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Vipoma
Normochromic anemia, Hypokalemia, Hepatomegaly, Hypercalcemia ORPHA:97282
Idiopathic Copper-Associated Cirrhosis
Increased circulating copper concentration ORPHA:209919
Pulmonary Arteriovenous Malformation
Iron deficiency anemia, Bacterial endocarditis ORPHA:2038
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:435934
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Cardiomegaly, Ventricular septal defect, Overriding aorta OMIM:617022
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Cardiomegaly, Ventricular septal defect, Patent foramen ovale OMIM:618652
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... OMIM:115197
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Asplenia OMIM:269200
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Glucagonoma
Normochromic anemia, Hypercalcemia, Hepatomegaly, Acanthocytosis ORPHA:97280
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Decreased plasma carnitine, Hepatomegaly, Elevated circulating creat... OMIM:201475
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Fucosidosis
Cardiomegaly, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes OMIM:230000
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Hepatomegaly, Abnormal pulmonary valve cusp morphology ORPHA:100075
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Elevated levels of phytanic acid OMIM:266500
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:3092
Sheehan Syndrome
Normochromic anemia, Hyponatremia ORPHA:91355
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Increased circulating IgG level, Increased circulating IgA level, Splenomegaly... OMIM:256040
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Atrial septal defect, Tricuspid stenosis, Elevated... OMIM:105650
Peutz-Jeghers Syndrome
Iron deficiency anemia OMIM:175200
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Decreased serum zinc, Hepatosplenomegaly ORPHA:541423
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy, Hyperammonemia ORPHA:391428
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent foramen ovale, Decreased serum iron, Atrial septal defect, Pulmonic stenosis, Anemia, Abno... ORPHA:438213
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Cirrhotic Cardiomyopathy
Right atrial enlargement, Cardiomegaly, Abnormal B-type natriuretic peptide level, Abnormal A-typ... ORPHA:57777
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Tricuspid stenosis, Pulmonic stenosis ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia, Tricuspid stenosis, Pulmonic stenosis ORPHA:100077
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Decreased serum zinc, Decreased plasma total carnitine, Iron deficiency a... ORPHA:79408
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration ORPHA:521411
Irida Syndrome
Decreased circulating copper concentration ORPHA:209981
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Decreased plasma total carnitine, Elevated circulating c... OMIM:608836
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Tricuspid stenosis, Pulmonic stenosis, Increased hematocrit ORPHA:100076
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Atrial septal defect, Splenomegaly, Hepatomegaly, Pulmonic ste... OMIM:602782
Hereditary Hemorrhagic Telangiectasia
Microcytic anemia ORPHA:774
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia ORPHA:309031
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Tetralogy of Fallot, Splenomegaly, Hepatomegaly, Anemia, Ventricular septal de... OMIM:619525
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616897
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Atrial septal defect, Ventricular septal defect, Bicuspid aortic... ORPHA:363705
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Decreased plasma total carnitine, Hyperlipidemia, Elevated circul... ORPHA:228308
Primary Sjögren Syndrome
Leukopenia, Normocytic anemia, Decreased proportion of CD4-positive helper T cells, Decreased cir... ORPHA:289390
Sandhoff Disease
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly OMIM:268800
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Monosomy 22
Hypochromic microcytic anemia, Hepatosplenomegaly, Aplasia of the thymus ORPHA:96123
Somatostatinoma
Hepatomegaly, Hypercalcemia, Hypochromic microcytic anemia ORPHA:97283
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Car... OMIM:252500
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Normocytic anemia, Elevated circulating creatinine concentration... ORPHA:91500
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Gitelman Syndrome
Hypokalemia, Hypocalcemia, Iron deficiency anemia, Hypermagnesemia, Hypomagnesemia, Pericardial e... ORPHA:358
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:255249
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Fanconi Anemia
Tetralogy of Fallot, Leukopenia, Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal aort... ORPHA:84
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Iron deficiency anemia ORPHA:261584
Degcags Syndrome
Pancytopenia, Hepatosplenomegaly, Leukopenia, Congenital hypoplastic anemia, Patent foramen ovale... OMIM:619488
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Abnormal cardiac a... ORPHA:1329
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Iron deficiency anemia ORPHA:93315
Slc39A8-Cdg
Hypomanganesemia, Abnormal blood zinc concentration ORPHA:468699
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ventric... OMIM:614921
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... ORPHA:308552
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Atrial septal defect, P... ORPHA:3384
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Abnormal mitral valve morphology, Splenomegaly, Abnormal aortic v... ORPHA:581
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Left ventricular... OMIM:245600
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:261740
Tropical Endomyocardial Fibrosis
Eosinophilia, Coronary artery stenosis, Myocardial calcification, Splenomegaly, Hepatomegaly, Res... ORPHA:75565
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Neonatal alloimmune thrombocytopenia, Cardiomega... ORPHA:51
Beckwith-Wiedemann Syndrome
Elevated alpha-fetoprotein, Enlarged kidney, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomeg... ORPHA:116
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Naxos Disease
Cardiomegaly, Right ventricular cardiomyopathy, Dilated cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Congenital Tracheomalacia
Tetralogy of Fallot, Atrial septal defect, Partial anomalous pulmonary venous return, Abnormal he... ORPHA:95430
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Abnormal heart morphology, Trunc... ORPHA:980
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Patent foramen ovale, Atrial septal defect, Left ventricular nonc... OMIM:300967
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... ORPHA:365
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, ... ORPHA:1677
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Acute Transverse Myelitis