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Gene: Ldha MGI:96759

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Gene Summary

Name:
lactate dehydrogenase A
Synonyms:
l7R2,  lactate dehydrogenase-A,  LDH-A,  Ldh1,  Ldh-1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Ldhatm1a(EUCOMM)Wtsi HET Early adult 1.16×10-09
decreased body weight Ldhatm1a(EUCOMM)Wtsi HET Early adult 2.57×10-05
preweaning lethality, complete penetrance Ldhatm1a(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 16.67% (1 of 6)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 66.67% (4 of 6)
Bone N/A heterozygote 83.33% (5 of 6)
Brain N/A heterozygote 100% (6 of 6)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 6)
Cartilage tissue N/A heterozygote 100% (6 of 6)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 83.33% (5 of 6)
Gall bladder N/A heterozygote 66.67% (4 of 6)
Heart N/A heterozygote 100% (6 of 6)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (6 of 6)
Large intestine N/A heterozygote 83.33% (5 of 6)
Liver N/A heterozygote 100% (6 of 6)
Lower urinary tract N/A heterozygote 100% (6 of 6)
Lung N/A heterozygote 83.33% (5 of 6)
Lymph node N/A heterozygote 83.33% (5 of 6)
Mammary gland N/A heterozygote 0.0% (0 of 6)
Esophagus N/A heterozygote 100% (6 of 6)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (3 of 6)
Oviduct N/A heterozygote 50% (3 of 6)
Pancreas N/A heterozygote 0.0% (0 of 6)
Parathyroid gland N/A heterozygote 66.67% (4 of 6)
Peripheral nervous system N/A heterozygote 100% (6 of 6)
Peyer's patch N/A heterozygote 66.67% (4 of 6)
Pituitary gland N/A heterozygote 50% (3 of 6)
Prostate gland N/A heterozygote 33.33% (2 of 6)
Skeletal muscle tissue N/A heterozygote 100% (6 of 6)
Skin N/A heterozygote 100% (6 of 6)
Small intestine N/A heterozygote 100% (6 of 6)
Spinal cord N/A heterozygote 100% (6 of 6)
Spleen N/A heterozygote 100% (6 of 6)
Stomach N/A heterozygote 100% (6 of 6)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (3 of 6)
Thymus N/A heterozygote 83.33% (5 of 6)
Thyroid gland N/A heterozygote 83.33% (5 of 6)
Trachea N/A heterozygote 100% (6 of 6)
Uterus N/A heterozygote 50% (3 of 6)
White adipose tissue N/A heterozygote 0.0% (0 of 6)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

28 Images

View images
Legacy Phenotype Associated Images
Ldhatm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Ldhatm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Ldhatm1a(EUCOMM)Wtsi
forearm, WT, Male, WTSI
Ldhatm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Ldhatm1a(EUCOMM)Wtsi
body, WT, Female, WTSI

View all 105 images

Ldhatm1a(EUCOMM)Wtsi
HET, Male, WTSI
Ldhatm1a(EUCOMM)Wtsi
salivary gland, skeletal muscle tissue, pancreas, HET, Male, WTSI
Ldhatm1a(EUCOMM)Wtsi
left lung, HET, Male, WTSI
Ldhatm1a(EUCOMM)Wtsi
urinary bladder, spleen, kidney, liver middle lobe, HET, Male, WTSI
Ldhatm1a(EUCOMM)Wtsi
femur, fibula, tibia, HET, Male, WTSI

View all 47 images

Ldhatm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Ldhatm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Ldhatm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Ldhatm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated circulating hepatic transaminase concentration, Abnormal circulating lactate dehydrogena... ORPHA:284426
Glycogen Storage Disease Xi
Increased serum pyruvate, Elevated circulating creatine kinase concentration OMIM:612933

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Lactate Dehydrogenase B Deficiency
Reduced circulating lactate dehydrogenase concentration OMIM:614128
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Alcohol Sensitivity, Acute
Reduced acetaldehyde dehydrogenase level OMIM:610251
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte adenylate kinase activity, Hemolytic anemia OMIM:612631
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Cyanosis, Transient Neonatal
Jaundice, Hepatomegaly, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Acatalasemia
Reduced circulating catalase activity OMIM:614097
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Chronic hemolytic anemia, Reduced red cell pyruvate kinase level, Jaundice, Choleli... OMIM:266200
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubin... OMIM:618892
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Iron deficiency ... OMIM:616278
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hepatomegaly, Anemia, Jaundice, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Reduced haptoglobin level, Hyperbilirubinemia, Anemia o... OMIM:613673
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Macrocytic dyserythropoietic a... OMIM:224120
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
Elliptocytosis 2
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:130600
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Porphyria, Acute Hepatic
Hemolytic anemia OMIM:612740
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Decreased mean corpuscular volume, Eryt... OMIM:206100
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Jaundice, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer... OMIM:619874
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Portal fibrosis, Increased serum bile acid concentration, Elevated circul... OMIM:619868
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Malaria
Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration ORPHA:673
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis OMIM:611590
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Myeloperoxidase Deficiency
Diminished neutrophil myeloperoxidase activity OMIM:254600
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia OMIM:245900
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Hemolytic anemia OMIM:301015
Rh-Null, Regulator Type
Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal... ORPHA:288
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... OMIM:609628
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Rh Deficiency Syndrome
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy... ORPHA:71275
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me... OMIM:617948
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly OMIM:608898
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Hereditary Spherocytosis
Hepatomegaly, Anemia, Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi... OMIM:619375
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating creatine kinase concentration, Reti... OMIM:232800
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hemolytic anemia OMIM:609153
Babesiosis
Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia ORPHA:108
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper... OMIM:214900
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia, Decreased circulating carnitine concentration OMIM:611283
Galactosemia I
Decreased liver function, Increased level of galactitol in red blood cells, Cirrhosis, Hepatomega... OMIM:230400
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemia, Thrombocytopenia, Eryth... OMIM:617021
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin... OMIM:210250
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Nephronophthisis
Anemia ORPHA:655
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Diamond-Blackfan Anemia 12
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... OMIM:615550
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Atelectasis, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Decreased ... OMIM:618278
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... OMIM:614034
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis, Hemolytic anemia, Hepatic failure OMIM:177000
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Hypermanganesemia With Dystonia 1
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613280
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran... OMIM:618935
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Fetal Cytomegalovirus Syndrome
Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Thromboc... ORPHA:294
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia OMIM:615399
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Hemolytic anemia OMIM:152700
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia ORPHA:318
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Hepatomegaly, Sea-blue histiocy... OMIM:607616
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia OMIM:237500
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati... ORPHA:848
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase... OMIM:611881
Diamond-Blackfan Anemia 5
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Reticulocytopenia, Elevated hepatic iron concentration, Dysplastic e... ORPHA:300298
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormality ... ORPHA:398124
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:606785
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Abnormality of the liver, Neu... ORPHA:2169
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Rotor Syndrome
Hyperbilirubinemia, Jaundice, Intermittent jaundice, Conjugated hyperbilirubinemia ORPHA:3111
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hyperbilirubin... OMIM:619256
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia OMIM:612300
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Hepatic Veno-Occlusive Disease
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascites, Increas... ORPHA:890
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:153670
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula... ORPHA:231222
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:235555
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom... OMIM:613313
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Kasabach-Merritt Phenomenon
Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th... ORPHA:2330
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Reticulocytosis, Increased blood urea nitrogen, Prolonged neonatal jaundice, Thrombocyt... OMIM:274150
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:218800
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease ORPHA:2924
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Giant cell hepat... ORPHA:79303
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit... OMIM:127550
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Conjugated hyperbilirubinemia, Cardi... OMIM:269920
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit... OMIM:243300
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h... OMIM:619232
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Port... OMIM:605814
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Ascites ORPHA:295
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera... ORPHA:79302
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hemophagocyt... OMIM:267700
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Acholic stools, Hyperbilirubinemia, ... OMIM:613812
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia OMIM:301110
Wolcott-Rallison Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Ja... ORPHA:1667
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... OMIM:617052
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis OMIM:235400
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Paroxysmal Cold Hemoglobinuria
Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia ORPHA:90035
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Elevated circulating hepatic transam... OMIM:607765
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:187800
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentratio... OMIM:143500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Periportal fibro... OMIM:251880
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Hepatomegaly, Anemia, Acute myeloid leukemia, Macrocytic anem... ORPHA:811
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia OMIM:616871
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hepatomegaly, Jaundice, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis... OMIM:608885
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612925
Atransferrinemia
Abnormality of the liver, Hypochromic anemia OMIM:209300
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Cystic Echinococcosis
Cholestatic liver disease, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... ORPHA:400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs... OMIM:150550
Relapsing Fever
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulating C... ORPHA:91547
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Lcat Deficiency
Hemolytic anemia ORPHA:650
Triosephosphate Isomerase Deficiency
Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating hepatic transa... OMIM:603553
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Transaldolase Deficiency
Cirrhosis, Anemia, Abnormal circulating glutamine concentration, Increased serum bile acid concen... ORPHA:101028
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr... ORPHA:54251
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Hepatomegaly, Jaundice, Cholelithiasis, Conjugated hyperbilirubinemia OMIM:605479
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia ORPHA:57
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia, Hepatomegaly, Anemia ORPHA:28
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:263400
Caroli Syndrome
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Intra... ORPHA:480520
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Decreased ... ORPHA:231214
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ... ORPHA:824
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ... ORPHA:234
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Ascites, Polycystic liver disease OMIM:174050
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit ORPHA:284227
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia... OMIM:614300
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... OMIM:620135
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ... OMIM:557000
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Pancreatitis, Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hypona... ORPHA:90038
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Decreas... ORPHA:14
Congenital Toxoplasmosis
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Jaundice, Ascites,... ORPHA:858
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia... ORPHA:1572
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Formiminoglutamic Aciduria
Atrial septal defect, Megaloblastic anemia, Anemia, Abnormal circulating histidine concentration ORPHA:51208
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt... ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt... ORPHA:529799
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel... ORPHA:3261
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Caroli Disease
Cirrhosis, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Liver a... ORPHA:53035
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Chole... ORPHA:567983
Castleman Disease
Jaundice, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Abdominal mass, Thrombocytopenia,... ORPHA:160
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... ORPHA:3226
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Elevated transferrin saturation, Increased circu... OMIM:606069
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Orthostatic Hypotension 2
Anemia OMIM:618182
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Absent circulating B cells, Splenomegaly, Pancytopenia OMIM:620282
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Anemia, Abnormal circulating copper concentration... OMIM:615517
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration OMIM:618838
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Hemochromatosis, Type 3
Cirrhosis, Neutropenia, Anemia, Lymphopenia OMIM:604250
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Transcobalamin Ii Deficiency
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, N... OMIM:275350
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis ORPHA:3318
Myasthenia Gravis
Pure red cell aplasia, Hepatitis, Hemolytic anemia, Abnormal thymus morphology ORPHA:589
Mixed Connective Tissue Disease
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Hemolytic a... ORPHA:809
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Medi... OMIM:619802
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Anemia, Ascites, Hypercalcemia, Thrombocytopenia ORPHA:2123
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Liver Failure, Infantile, Transient
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Macrovesicular h... OMIM:613070
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, T lymphocytopenia, Decreased proportion of memory T cells, S... OMIM:620632
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem... OMIM:259720
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Acute pancreatitis... OMIM:619487
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis OMIM:300635
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Oslam Syndrome
Anemia OMIM:165660
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Lipoyltransferase 1 Deficiency
Decreased liver function, Elevated circulating hepatic transaminase concentration, Increased tota... OMIM:616299
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Pleural effusion, Ascites, Elevated circulating alanine aminotransferase con... OMIM:617049
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count OMIM:616050
Paroxysmal Nocturnal Hemoglobinuria
Jaundice, Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentrat... ORPHA:447
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:620603
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia OMIM:300367
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Senior-Boichis Syndrome
Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Cholestasis, Ascites,... ORPHA:84081
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Cholestasis, Ascites, Lymphopenia, Hepatic steatosis, Decreased CD4:CD8 rat... OMIM:619573
8P11.2 Deletion Syndrome
Spherocytosis, Splenomegaly, Hemolytic anemia ORPHA:251066
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Abnorma... ORPHA:699
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Leukocytosis, As... ORPHA:98850
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... ORPHA:244242
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, P... ORPHA:79277
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Reduced erythrocyte uropo... OMIM:263700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Lathosterolosis
Anisopoikilocytosis, Bilobate gallbladder, Intrahepatic cholestasis, Hyperbilirubinemia, Elevated... OMIM:607330
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent sinusitis, Recurrent pneumonia, Recurrent sinopulmonary in... OMIM:616576
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... OMIM:613404
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly... ORPHA:39041
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Jaundice, Hepatosplenomegaly, Spontaneous hemolytic crises ORPHA:168577
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Acute he... OMIM:278000
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:30391
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Lymphopenia, Ascites, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic a... ORPHA:93552
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro... ORPHA:158061
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Wilson Disease
Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum ... OMIM:277900
Hijazi-Reis Syndrome
Hyperbilirubinemia, Recurrent respiratory infections OMIM:301094
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:290
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti... ORPHA:331206
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Reticular pattern on pulmonary HRCT, Iron deficiency anemia, Hepatosplenomegaly, Pu... ORPHA:99931
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia ORPHA:464343
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:230800
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Elevated circulating hepatic transam... OMIM:602347
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... OMIM:615952
Hydatidiform Mole
Anemia ORPHA:99927
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Cardiomegaly, Increased circulating ferritin concentration, Congenital thro... OMIM:618886
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged... OMIM:257200
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia ORPHA:90033
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Ascites, Hypertrophic cardiomyopathy, Abnormal lung morphology, Abnormal hear... ORPHA:464321
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesi... OMIM:608836
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Anemia, Jaundice, Elevated circulating C-reactive protein concentration, Increased ... OMIM:620376
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel... ORPHA:906
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Graft Versus Host Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepati... ORPHA:39812
Attrv122I Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo... ORPHA:85451
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Jaundice, Hepatomegaly, Intrahepa... OMIM:614887
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Reynolds Syndrome
Calcinosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Hype... OMIM:613471
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Conjugated hyp... OMIM:619484
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ... ORPHA:83471
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Thrombocytopenia, Hepatosplenomega... OMIM:619644
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Enlarged kidney, Hypercalcemia, Episodic hemolytic anemia ORPHA:251004
Copper Deficiency, Familial Benign
Anemia OMIM:121270
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... ORPHA:47612
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M... OMIM:617156
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thromboc... OMIM:260400
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... OMIM:619991
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Thrombocytopenia, ... ORPHA:381
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi... ORPHA:95715
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hyperbilirubinemia, Elev... OMIM:614886
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Anemia, Recurrent lower respiratory tract infections, Pancytopenia, Hypertrophic ca... OMIM:615846
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Shigellosis
Splenic abscess, Cholestasis, Leukocytosis, Thrombocytopenia, Peritonitis, Microangiopathic hemol... ORPHA:810
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Recurrent lower respiratory tract infections, Hyperalan... OMIM:619170
Wilson Disease
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Hepatitis, Thrombocytopenia, Splenome... ORPHA:905
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... ORPHA:508542
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F OMIM:619769
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Jaundice, Hypercholesterolemia... ORPHA:186
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Abnormal ... OMIM:620430
Fumarase Deficiency
Perimembranous ventricular septal defect, Intrahepatic cholestasis, Hyperbilirubinemia, Ascites, ... OMIM:606812
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Hepatomegaly, Anemia, Methylmalonic ac... OMIM:251110
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia ORPHA:95717
Fanconi-Bickel Syndrome
Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid concentration, Hypokalemia, Hyp... OMIM:227810
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c OMIM:609812
Interstitial Lung And Liver Disease
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Cirrhosis, Intraalveolar phosph... OMIM:615486
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo... ORPHA:158048
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology ORPHA:2522
Transaldolase Deficiency
Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly... OMIM:606003
Prolidase Deficiency
Hepatomegaly, Anemia, Prolonged neonatal jaundice, Thrombocytopenia, Splenomegaly OMIM:170100
Abcd Syndrome
Polycythemia OMIM:600501
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:600901
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Increased serum bile acid concentration, Hyperbilirubinemia, Elevated c... OMIM:619685
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega... OMIM:612783
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:235200
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... OMIM:214500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymp... OMIM:602450
Adult-Onset Still Disease
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S... ORPHA:829
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Patent foramen ovale, ... OMIM:614868
Intrahepatic Cholestasis Of Pregnancy
Jaundice, Elevated circulating hepatic transaminase concentration, Increased serum bile acid conc... ORPHA:69665
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Diamond-Blackfan Anemia 10
Reticulocytopenia, Steroid-responsive anemia, Anemia, Macrocytic anemia OMIM:613309
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227650
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Anemia, Portal hypertension, Lymphopenia OMIM:620365
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Hepatomegaly, Splenomegaly OMIM:617388
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminot... OMIM:617093
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Ple... ORPHA:542323
Hepatoerythropoietic Porphyria
Erythroid hyperplasia, Splenomegaly, Hemolytic anemia ORPHA:95159
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune t... OMIM:620565
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Ascite... OMIM:615710
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Splenomegaly, Congenital hypoplastic a... ORPHA:77297
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Absent gallbladder, Atrial septal def... ORPHA:163979
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuricemia, Hyperalanin... ORPHA:348
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Schistocytosis OMIM:616084
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus... OMIM:615415
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocy... ORPHA:99826
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thr... ORPHA:540
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hyperkalemia, Pancreatitis, Pleuritis, Hypocalcemia, Pleural empyema, Leukocytosis, ... ORPHA:544482
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic... ORPHA:77259
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Eisenmenger Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Iron deficiency anemia, Increased mean corpuscular v... ORPHA:97214
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Sclerosing cholangitis, Pancytopenia, Neutropenia in presence of ant... ORPHA:572
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Abnormal pulmonary interstitial morphology, Cirrhosis, Emphysema, Anemi... OMIM:613658
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukemia,... OMIM:227645
Anemia, Congenital Dyserythropoietic, Type Iiia
Congenital hypoplastic anemia, Anemia of inadequate production, Macrocytic anemia, Jaundice OMIM:105600
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Mcleod Syndrome
Acanthocytosis, Hepatomegaly, Splenomegaly OMIM:300842
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia ORPHA:536
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Thrombocytopenia, Hemolytic anemia ORPHA:647
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc... ORPHA:562639
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Lymphopenia OMIM:620443
Ogden Syndrome
Left atrial enlargement, Pulmonary edema, Enlarged kidney, Perimembranous ventricular septal defe... OMIM:300855
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hyperglutamatemia, Increased serum pyr... ORPHA:3008
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Cholestasis OMIM:609734
Polycythemia Vera
Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth... ORPHA:729
Sclerosing Cholangitis, Neonatal
Cirrhosis, Hepatomegaly, Portal fibrosis, Jaundice, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Sarcoidosis
Pneumothorax, Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Emphy... ORPHA:797
Psoriasis 14, Pustular
Cholangitis, Neutrophilia, Leukocytosis OMIM:614204
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Chronic Granulomatous Disease
Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Splenomegaly, Abnormality of neutrophils ORPHA:379
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Neonatal hyperbili... ORPHA:95716
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Jaundice, Intrahepa... OMIM:614866
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... OMIM:102700
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Increased total ... ORPHA:309854
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Cranioectodermal Dysplasia 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Cholangit... OMIM:613610
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Neonatal hyperbilirubinemia, Recurrent upper respiratory tract infections ORPHA:293939
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly, Hepatomegaly OMIM:612852
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopeni... OMIM:612541
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary... OMIM:619534
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymphadenitis, Splenomegaly, He... OMIM:615895
Yellow Fever
Jaundice, Hyperbilirubinemia, Acute pancreatitis, Leukocytosis, Elevated circulating alanine amin... ORPHA:99829
Cirrhotic Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Cirrhosis, Hepatomegaly, Jaundice, Abnormal circulating... ORPHA:57777
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Alkaptonuria
Black pigment gallstones, Abnormal heart valve morphology, Mitral valve calcification, Aortic val... ORPHA:56
Fructose Intolerance, Hereditary
Bicarbonaturia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... OMIM:229600
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... OMIM:257220
Degcags Syndrome
Hepatomegaly, Anemia, Iron deficiency anemia, Pancytopenia, Dysplastic pulmonary valve, Hyperbili... OMIM:619488
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Anemia, Splenomegaly OMIM:239200
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Hepatic fibrosis, Polycystic liver disease, Bile duct proliferation, Pulmonary hypoplas... OMIM:208500
Distal Renal Tubular Acidosis
Hemolytic anemia ORPHA:18
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Hepatosplenomegaly, Neutropenia OMIM:301081
X-Linked Intellectual Disability, Nascimento Type
Patent foramen ovale, Mitral stenosis, Tetralogy of Fallot, Neonatal hyperbilirubinemia, Double o... ORPHA:163956
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233710
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ... OMIM:255120
Sweet Syndrome
Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Neutro... ORPHA:3243
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly OMIM:260920
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Cholestasis, Prolonged neonatal jau... OMIM:300972
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233690
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocy... OMIM:227646
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukopenia, Leukocytosis ORPHA:36238
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Splenomegaly OMIM:612301
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Aspiration pneumonia ORPHA:95232
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Lysinuric Protein Intolerance
Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Thrombocytopenia, Leukopenia, Splenomegaly OMIM:222700
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Idiopathic Hypereosinophilic Syndrome
Anemia, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Myeloproliferati... ORPHA:3260
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Ascites, Lymphadenitis, Granuloma, ... OMIM:306400
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Peritonitis OMIM:249100
Kikuchi-Fujimoto Disease
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Leukopenia,... ORPHA:50918
Multiple Myeloma
Lymphadenopathy, Anemia, Splenomegaly ORPHA:29073
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Prolonged neonatal jaundice, Neonatal hyperbil... ORPHA:90673
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Polycythemia, Neoplasm of the pancreas, Pancreatic cysts OMIM:193300
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Isolated Thyroid-Stimulating Hormone Deficiency
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Hypercholesterolem... ORPHA:90674
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod... ORPHA:391487
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Transposition of the great arteries, Muscular ventricular septal defect, Hypocalcemia, Cholestasi... OMIM:619503
Kabuki Syndrome 1
Autoimmune thrombocytopenia, Hemolytic anemia OMIM:147920
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Anemia, Leukocytosis, Neutrophilia, Microcytic anemia ORPHA:99843
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Patent foramen ovale, Unconjugated hyperbilirubinemia, Prolonge... OMIM:620186
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology, H... OMIM:619475
Down Syndrome
Leukemia, Abnormality of the lymphatic system, Polycythemia, Neutrophilia, Thrombocytopenia, Acut... ORPHA:870
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia OMIM:175780
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Hypoplasia of the thymus, Abnorm... ORPHA:436252
Truncus Arteriosus
Abnormal lung lobation, Pulmonary edema, Transposition of the great arteries, Abnormal heart valv... ORPHA:3384
Johanson-Blizzard Syndrome
Situs inversus totalis, Atrial septal defect, Hepatomegaly, Intrahepatic cholestasis, Hypocalcemi... OMIM:243800
Neurooculorenal Syndrome
Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Conjugated hyper... OMIM:620305
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Muscular ventricular septal defect, Hyperbilirubinemia, Patent foramen ovale, Prolonged neonatal ... OMIM:210710
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin concentration, Hyperbilirubinemia OMIM:218700
Crimean-Congo Hemorrhagic Fever
Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Acute pancreatitis, Leukocytosis, Ascites,... ORPHA:99827
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Neonatal hyperbilirubinemia OMIM:300896
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial septal defect, Hepatomegaly, Tra... ORPHA:99125
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated circulating hepatic transaminase concentration, Abnormal circulating lactate dehydrogena... ORPHA:284426
Glycogen Storage Disease Xi
Increased serum pyruvate, Elevated circulating creatine kinase concentration OMIM:612933

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Spleen - MPATH diagnostic term extramedullary hemopoiesis Ldhatm1a(EUCOMM)Wtsi HET Early adult
Spleen - hyperplasia Ldhatm1a(EUCOMM)Wtsi HET Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ldha.

There are 22 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Glycolytic state of aortic endothelium favors hematopoietic transition during the emergence of definitive hematopoiesis. Science advances (February 2024) Ldhatm1c(EUCOMM)Wtsi PMC10871539
CD4+ T cell immunity is dependent on an intrinsic stem-like program. Nature immunology (January 2024) Ldhatm1c(EUCOMM)Wtsi 38168955
Lactate-a new player in G-CSF-induced mobilization of hematopoietic stem/progenitor cells. Leukemia (May 2023) Ldhatm1c(EUCOMM)Wtsi 37138018
The lactate dehydrogenase (LDH) isoenzyme spectrum enables optimally controlling T cell glycolysis and differentiation. Science advances (March 2023) Ldhatm1c(EUCOMM)Wtsi PMC10038341
Astrocytic lactate dehydrogenase A regulates neuronal excitability and depressive-like behaviors through lactate homeostasis in mice. Nature communications (February 2023) Ldhatm1c(EUCOMM)Wtsi PMC9911790
Colonocyte-derived lactate promotes E. coli fitness in the context of inflammation-associated gut microbiota dysbiosis. Microbiome (November 2022) Ldhatm1a(EUCOMM)Wtsi PMC9701030
Metabolic lactate production coordinates vasculature development and progenitor behavior in the developing mouse neocortex. Nature neuroscience (June 2022) Ldhatm1c(EUCOMM)Wtsi 35726058
Inhibition of LDHA to induce eEF2 release enhances thrombocytopoiesis. Blood (May 2022) Ldhatm1c(EUCOMM)Wtsi Ldhatm1a(EUCOMM)Wtsi 35176139
Lactate dehydrogenase regulates basal glucose uptake in adipocytes. Biochemical and biophysical research communications (March 2022) Ldhatm1c(EUCOMM)Wtsi 35366539
Restraint of Fumarate Accrual by HIF-1α Preserves miR-27a-Mediated Limitation of Interleukin 10 during Infection of Macrophages by Histoplasma capsulatum. mBio (November 2021) Ldhatm1a(EUCOMM)Wtsi PMC8576535
Lactate dehydrogenase A-dependent aerobic glycolysis promotes natural killer cell anti-viral and anti-tumor function. Cell reports (June 2021) Ldhatm1c(EUCOMM)Wtsi PMC8221253
Glycolysis fuels phosphoinositide 3-kinase signaling to bolster T cell immunity. Science (New York, N.Y.) (January 2021) Ldhatm1c(EUCOMM)Wtsi PMC8380312
Lactate Dehydrogenase A Governs Cardiac Hypertrophic Growth in Response to Hemodynamic Stress. Cell reports (September 2020) Ldhatm1c(EUCOMM)Wtsi PMC7520916
Lactate dehydrogenase inhibition synergizes with IL-21 to promote CD8+ T cell stemness and antitumor immunity. Proceedings of the National Academy of Sciences of the United States of America (March 2020) Ldhatm1c(EUCOMM)Wtsi PMC7084161
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ldhatm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ldhatm1a(EUCOMM)Wtsi PMC6459510
Glycolytic reliance promotes anabolism in photoreceptors. eLife (June 2017) Ldhatm1c(EUCOMM)Wtsi PMC5499945
Deletion of Lactate Dehydrogenase-A in Myeloid Cells Triggers Antitumor Immunity. Cancer research (April 2017) Ldhatm1c(EUCOMM)Wtsi PMC5505499
Aerobic glycolysis promotes T helper 1 cell differentiation through an epigenetic mechanism. Science (New York, N.Y.) (September 2016) Ldhatm1c(EUCOMM)Wtsi Ldhatm1a(EUCOMM)Wtsi PMC5539971
PTH Promotes Bone Anabolism by Stimulating Aerobic Glycolysis via IGF Signaling. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (July 2015) Ldhatm1a(EUCOMM)Wtsi PMC4825329
Cell-state-specific metabolic dependency in hematopoiesis and leukemogenesis. Cell (September 2014) Ldhatm1c(EUCOMM)Wtsi Ldhatm1a(EUCOMM)Wtsi PMC4197056
Targeting lactate dehydrogenase--a inhibits tumorigenesis and tumor progression in mouse models of lung cancer and impacts tumor-initiating cells. Cell metabolism (April 2014) Ldhatm1c(EUCOMM)Wtsi Ldhatm1a(EUCOMM)Wtsi PMC4096909

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MGI Allele Allele Type Produced
Ldhatm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ldhatm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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