Gene Summary

potassium voltage-gated channel, Isk-related subfamily, gene 2
2200002I16Rik,  MiRP1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 circulating iron level Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 1.33×10-09
thrombocytosis Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 4.42×10-08
decreased circulating serum albumin level Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 1.16×10-05
decreased circulating total protein level Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 4.16×10-06
decreased mean corpuscular hemoglobin Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 9.18×10-08
decreased hemoglobin content Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 2.80×10-06
increased circulating magnesium level Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 7.49×10-06
decreased hematocrit Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 5.46×10-05
decreased mean corpuscular volume Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 1.36×10-05
decreased circulating bilirubin level Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 4.41×10-06

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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 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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%
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.

Legacy Phenotype Associated Images

View all 72 images

Human diseases caused by Kcne2 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 Kcne2 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Atrial Fibrillation, Familial, 4
Long Qt Syndrome 6
Familial Atrial Fibrillation

The table below shows human diseases predicted to be associated to Kcne2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Stomac... ORPHA:2494
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Arthritis, Thrombocytosis, Elevated circulat... OMIM:604416
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pan... OMIM:618963
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, Myelodysplasia, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Thrombocytopenia, Anemia, Hypochromic microcytic anemia, Refract... OMIM:619523
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Protein-losing enteropathy, Inflammatory abnormality of the s... ORPHA:398063
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology, Refractory anemia with ringed sideroblasts OMIM:182170
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Myelodysplasia, Abnormal... ORPHA:86841
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Anemia, Elevated circulating C-reactive protein concentration, Ulc... OMIM:619398
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Immunodeficiency 27A
Hypoalbuminemia, Pneumonia, Diarrhea, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased i... OMIM:209950
Plummer-Vinson Syndrome
Decreased circulating ferritin concentration, Iron deficiency anemia, Esophageal web, Dysphagia, ... ORPHA:54028
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... OMIM:616860
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Thromb... OMIM:616576
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, M... ORPHA:2575
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ... ORPHA:436159
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration OMIM:618015
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lym... OMIM:617780
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... OMIM:300751
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Hy... ORPHA:848
Dominant Beta-Thalassemia
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231226
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Melena, Increased mean corpuscular volume, Increased to... ORPHA:98870
Hypochromic anemia, Abnormality of the liver, Atransferrinemia OMIM:209300
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Diarrhea, Vomiting, Intestinal lymphangiectasia, Intestinal obstruction, Abnorma... OMIM:226300
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... ORPHA:231401
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Thrombocythemia 2
Thrombocytosis OMIM:601977
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Microcytic anemia, Gastrointestinal infarctions, Skin rash, Viscer... ORPHA:1059
Thrombocythemia 3
Thrombocytosis OMIM:614521
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Diarrhea, Skin rash, Gast... OMIM:618108
Beta-Thalassemia Major
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231214
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Diarrhea, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Lympho... OMIM:616100
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Gastrointestinal carcinoma, Hematochezia, Xerostomia, Diarrhea, Vomit... OMIM:175500
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Atopic dermatitis, Vomiting, Diarrhea, Increased circulating ferritin concentration, Thrombocytop... ORPHA:3240
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto... OMIM:619281
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... ORPHA:48818
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration OMIM:300752
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Hypomagne... ORPHA:90362
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, In... ORPHA:97283
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... OMIM:603553
Majeed Syndrome
Inflammatory abnormality of the skin, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Eryth... OMIM:609628
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Osteomyelitis, Hepatomegaly, Arthritis, Hypochromic microcytic anemia, Elevated... OMIM:619423
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating ferritin concentration, Cervical lymphadenopathy, Hepatomegaly, ... OMIM:614034
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi... OMIM:301310
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentra... OMIM:619632
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Hypothyroidism, Lymphadenopathy, Elev... OMIM:619750
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Eczematoid dermatitis, Microcytic anemia, Abnormal circulating porphyrin concentr... ORPHA:79278
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Vomiting, Hypothyroidism, Hyperalaninemia, Hypochromic microcytic anemia, Anemia, Increased serum... OMIM:619147
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por... OMIM:616278
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni... OMIM:243150
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... OMIM:613845
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Alpha-Heavy Chain Disease
Lymphoma, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Hepatomegaly, Lymphade... ORPHA:100025
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... OMIM:226990
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Synovitis, Pustu... ORPHA:77297
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Diarrhea, Vomiting, Eczematoid dermatitis, Lymphoma, Recurrent aphthous... OMIM:212750
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Chronic diarrhea OMIM:618805
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of... ORPHA:227990
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, Le... ORPHA:809
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an... ORPHA:440713
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... ORPHA:3318
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Ele... OMIM:619381
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Peptic ulcer, Multiple lipomas, Pancreatitis, Hypercalcemia, Primary hyperparath... OMIM:145981
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypopituitarism, Microcytic anemia, Hepatosplenomegaly, Hepatic steatosis, Hypot... OMIM:619013
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Autoimmune Polyendocrinopathy Type 3
Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitia... ORPHA:227982
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T c... ORPHA:3261
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Abnormality of the liver, Hemangioma, Iron deficiency anemia, Thro... OMIM:112200
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Increased circulating ferritin concentration, Microcytic anemia, Sideroblasti... OMIM:600462
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Thromboc... ORPHA:507
Kenny-Caffey Syndrome, Type 1
Anemia, Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia OMIM:244460
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Splenomegaly, H... OMIM:615234
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Gitelman Syndrome
Hypermagnesemia, Type I diabetes mellitus, Diarrhea, Graves disease, Hypomagnesemia, Gout, Hypoca... ORPHA:358
Syndromic Diarrhea
Hepatic fibrosis, Intractable diarrhea, Lymphopenia, Abnormality of the liver, Villous atrophy, S... ORPHA:84064
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Peptic ulcer, Multiple lipomas, Hypophosphatemia, Pancreatitis, Hypercalcemia, P... OMIM:600740
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Congenital Atransferrinemia
Anemia, Hypothyroidism, Arthritis, Abnormality of the pancreas ORPHA:1195
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve... ORPHA:71275
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormality of ... ORPHA:1876
Dilated Cardiomyopathy With Ataxia
Elevated circulating glutaric acid concentration, Bilateral cryptorchidism, Normochromic microcyt... ORPHA:66634
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Immunodeficiency 92
Pneumonia, Osteomyelitis, Thrombocytosis, Leukocytosis, Esophagitis, Sclerosing cholangitis, Lymp... OMIM:619652
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Pyloric Stenosis, Infantile Hypertrophic, 1
Projectile vomiting, Pyloric stenosis OMIM:179010
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Lymphopenia, Leukopenia, Malar rash, Follicular hyperplasia, Skin rash, Pustule, M... OMIM:615934
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Decreased circulating carnitine concentration OMIM:611283
Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombocytopenia ORPHA:673
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Hodgkin lymphoma, Acute m... ORPHA:158057
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia,... OMIM:259720
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... OMIM:618372
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypermagnesemia, Pancreatitis, Parathyroid adenoma, Hypercalcemia OMIM:145980
Immunodeficiency 87 And Autoimmunity
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hodgkin lymphoma, Hepatomeg... OMIM:619573
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Malar rash, Chronic noninfectious lymphadenopathy, Autoim... OMIM:603909
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis OMIM:179700
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Diarrhea, Female hypogonadism, Chronic mucocutaneous candidia... OMIM:240300
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Hepatome... OMIM:615688
Aicardi-Goutieres Syndrome 7
Diarrhea, Pancytopenia, Hepatic steatosis, Chilblains, Hepatomegaly, Atrophic gastritis, Hypothyr... OMIM:615846
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen... OMIM:613313
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein conc... ORPHA:2070
Type I diabetes mellitus, Neoplasm of the larynx, Microcytic anemia, Type II diabetes mellitus, S... ORPHA:926
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Ski... OMIM:603552
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit... OMIM:235700
Diarrhea 13
Hypoalbuminemia OMIM:620357
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Barth Syndrome
Elevated monolysocardiolipin/cardiolipin ratio, Cyclic neutropenia, Hypochromic microcytic anemia... OMIM:302060
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:158061
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Monosomy 22
Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, Aplasia of the thymus, Seborrheic d... ORPHA:96123
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis OMIM:616084
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... ORPHA:514
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Diarrhea, Ileitis, Pustule, Hematological neoplasm, Acute infectious pneumonia, Neutropenia, Endo... ORPHA:73263
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Colorectal polyposis ORPHA:160148
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Uterine neoplasm, Intestinal bleeding, Intussusception, Bile duct pol... OMIM:175200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Gastroesophageal reflux, HbH hemoglobin, Protruding tongue, Cryptorchidism, Constipation, Hypochr... OMIM:301040
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia OMIM:608898
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, High palate, HbH hemoglobin, Cryptorchidism ORPHA:98791
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal erythrocyte... ORPHA:324636
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Interstitial Lung And Liver Disease
Hepatic fibrosis, Vomiting, Intraalveolar phospholipid accumulation, Cholestasis, Hyperammonemia,... OMIM:615486
Hereditary Fructose Intolerance
Hypermagnesemia, Diarrhea, Vomiting, Hyperuricemia, Nausea, Hypophosphatemia, Constipation, Hepat... ORPHA:469
Niemann-Pick Disease, Type A
Vomiting, Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Hepatomegaly, Constipation, Ly... OMIM:257200
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Cirrhosis, Osteoar... OMIM:606069
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia, Hydrocele testis OMIM:618972
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... OMIM:607616
Von Willebrand Disease
Gastrointestinal hemorrhage, Abnormality of thrombocytes, Microcytic anemia, Gastrointestinal ang... ORPHA:903
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia OMIM:608104
Rhabdoid Tumor
Neoplasm of the liver, Anemia, Lymphadenopathy, Thrombocytopenia, Renal neoplasm, Sarcoma, Hyperc... ORPHA:69077
Johanson-Blizzard Syndrome
Anemia, Hypoproteinemia ORPHA:2315
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Leukocytosis, Pancolitis, Eosinophilic infiltration of t... OMIM:618213
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Folate-resp... OMIM:601775
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Microcytic anemia, Elevated circulating creatine kinase concentration, Gastroesophageal reflux, M... OMIM:612073
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentration OMIM:245900
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:611783
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Iron deficiency anemia, Hypothyroidism, Hepatomegaly, High palate OMIM:607906
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Peptic ulcer, Pancreatitis, Lipoma, Hypocalcemic seizure... ORPHA:405
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Anemia ORPHA:655
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocytosis, Splenomegaly, Portal hyp... ORPHA:729
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, Anemia, Hypoprote... OMIM:615895
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insuff... ORPHA:2905
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate producti... OMIM:612714
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Dysphagia, Eczematoid dermatitis OMIM:612379
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Exocrine p... ORPHA:1667
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:617907
Helix Syndrome
Hypokalemia, Hypermagnesemia, Hyperparathyroidism, Xerostomia OMIM:617671
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastr... OMIM:174900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia OMIM:614082
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Microcytic anemia, Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Neuroleptic Malignant Syndrome
Vomiting, Hyperphosphatemia, Hypomagnesemia, Aspiration pneumonia, Leukocytosis, Hypocalcemia, Hy... ORPHA:94093
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad... ORPHA:300298
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Bifid uvula, Hepat... OMIM:222470
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hepatomegaly,... ORPHA:699
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Primary... OMIM:269200
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Glutamate Formiminotransferase Deficiency
Positive ferric chloride test, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Klippel-Trénaunay Syndrome
Microcytic anemia, Hepatomegaly, Hemangioma, Gastrointestinal hemorrhage ORPHA:90308
Congenital Enterovirus Infection
Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro... ORPHA:292
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Elevated circulating creatine kinase concentration, Hypothyroidism, Neutropeni... OMIM:251900
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hemangiomatosis, Thrombocytopenia, Anemia, Hypercalcemia, Visceral angiomatosis ORPHA:2123
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abn... OMIM:619991
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... ORPHA:157798
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Colchicine Poisoning
Diarrhea, Vomiting, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Nausea... ORPHA:31824
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hyperparathyroidism, Hypercalcemia ORPHA:2668
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Dermatitis Herpetiformis
Microcytic anemia, Abnormality of the thyroid gland, Eczematoid dermatitis ORPHA:1656
3-Hydroxy-3-Methylglutaric Aciduria
Diarrhea, Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Lipid accumulation in hepatocy... ORPHA:20
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Increased fecal harderoporphyrin, Neonatal hyperbilirubinemia, Vomiting, Increased circulating fe... OMIM:618892
Wiskott-Aldrich Syndrome
Acute leukemia, Abnormal eosinophil morphology, Inflammation of the large intestine, Microcytic a... ORPHA:906
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Anisocytosis OMIM:604273
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Protracted diarrhea, Bloody diarrhea, Increased circulating ACTH level... ORPHA:100075
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Decreased serum estradiol, Gastroesophageal reflux, Insulin-resistant diabetes melli... ORPHA:2959
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro... ORPHA:3260
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:612653
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Neoplasm of the skin, Leukopenia, Erythroid hyperplasia, Abnormal circul... ORPHA:79277
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Osteosarcoma, Persistence of hemoglobin F, Elevated red cell a... OMIM:105650
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia OMIM:601815
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Hypothalamic hamartoma, Cryptorchidism, Hypomagnesemia OMIM:619908
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Diarrhea, Vomiting, Hypocholesterolemia, Villous atrophy, Hepa... OMIM:212065
Anemia, Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferri... OMIM:604290
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti... OMIM:620501
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Iron deficiency anemia, Pineal cyst, Constipation, Decreased HDL cholesterol... OMIM:618885
Formiminoglutamic Aciduria
Abnormal circulating histidine concentration, Anemia, Megaloblastic anemia ORPHA:51208
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocyto... OMIM:618278
3-Methylglutaconic Aciduria, Type V
Normochromic microcytic anemia, Cryptorchidism, Microvesicular hepatic steatosis, Decreased testi... OMIM:610198
Acquired Von Willebrand Syndrome
Normocytic anemia, Gastrointestinal hemorrhage, Hypochromic anemia, Gastrointestinal angiodysplas... ORPHA:99147
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne... ORPHA:540
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes insipidus, Di... OMIM:598500
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megal... OMIM:620603
Peutz-Jeghers Syndrome
Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Rectal pro... ORPHA:2869
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia, Conjunctivitis, Chronic diarrhea, Chronic ora... OMIM:616740
Hypocalcemic Vitamin D-Dependent Rickets
Hypochromic anemia, Elevated circulating parathyroid hormone level, Leukocytosis, Hypocalcemia, S... ORPHA:289157
Diamond-Blackfan Anemia 6
Bifid uvula, Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, C... OMIM:612561
Cogan Syndrome
Keratitis, Episcleritis, Leukocytosis, Scleritis, Inflammatory abnormality of the eye, Thrombocyt... ORPHA:1467
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypoproteinemia, Hypocalcemia OMIM:235255
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185020
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ... ORPHA:183675
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic ... OMIM:249270
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... ORPHA:811
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hepatitis, Eczematoid dermatitis, Decreased FOXP3-expressing T cell cou... OMIM:304790
Beta-Ketothiolase Deficiency
Diarrhea, Vomiting, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis, Hepatomegaly ORPHA:134
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Neoplasm, Hypocalcemia, Chronic di... ORPHA:47
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Diarrhea, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagia, Gas... OMIM:147060
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Bloody diarrhea, Chronic constipation, Anemia, Inter... ORPHA:209964
Iron Overload, Susceptibility To
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... OMIM:620121
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia ORPHA:27
Elliptocytosis 2
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... OMIM:613839
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume, Osteosarcoma ORPHA:2760
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Elevated circulati... OMIM:618183
Familial Benign Copper Deficiency
Anemia, Decreased circulating copper concentration, Acne ORPHA:1551
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Ollier Disease
Precocious puberty, Neoplasm, Lymphangioma, Hemangioma, Anemia, Sarcoma, Multiple enchondromatosi... ORPHA:296
Vexas Syndrome
Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Macrocyti... OMIM:301054
Isolated Agammaglobulinemia
Pneumonia, Diarrhea, Abnormal lymphocyte morphology, Otitis media, Skin rash, Abnormality of the ... ORPHA:229717
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Skin rash, Esophage... ORPHA:44890
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Diarrhea, Abnormal lymph node morphology, Abnormality of the lymphatic system, Anem... ORPHA:54251
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphoma, Leukopenia, Acute myeloid leukemia,... OMIM:616871
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia ORPHA:1655
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Panni... OMIM:618398
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Avian Influenza
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... ORPHA:454836
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Diarrhea, Adrenal calcification, Increased LDL cholesterol concentrati... OMIM:278000
Desmoplastic Small Round Cell Tumor
Ileus, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Anemia... ORPHA:83469
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Methylmalonic ac... OMIM:236270
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Folate Malabsorption, Hereditary
Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased T3/T4 ratio, Constipation, Anemia, Macroglossia, Impaired se... OMIM:614450
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, E... OMIM:611881
Erythrocytosis, Familial, 2
Elevated circulating erythropoietin concentration, Increased hematocrit, Increased red blood cell... OMIM:263400
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... OMIM:616738
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Neopl... ORPHA:99867
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, High palate, Delayed puberty ORPHA:2598
Lesch-Nyhan Syndrome
Anemia, Gout, Hyperuricemia ORPHA:510
Ileal Neuroendocrine Tumor
Increased serum serotonin, Intestinal fistula, Gastrointestinal obstruction, Zollinger-Ellison sy... ORPHA:100078
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Vomiting, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocyto... ORPHA:35858
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Gracile Syndrome
Increased circulating iron concentration, Increased serum pyruvate, Increased circulating ferriti... OMIM:603358
C1Q Deficiency 2
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Anemia, Arthritis, Elevated c... OMIM:620321
Wolman Disease
Adrenal calcification, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foa... ORPHA:75233
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Insulin-resistant diabetes mellitus, Microcytic anemia, Decreased testicular size, C... ORPHA:293967
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Gastroesophageal reflux, Aplastic anemia, Pancytopenia, Cirrhosis, M... OMIM:614742
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... ORPHA:309108
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:182900
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Anemia, Leukocytosis ORPHA:67
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration, Seborrheic dermatitis OMIM:121270
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Thrombocytosis, Myelodysplasia ORPHA:71493
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Sideroblastic anemia, Dysphagia OMIM:613561
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Hyperuricemia ORPHA:371
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
H Syndrome
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Psoriasiform dermatitis, Hypogo... ORPHA:168569
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Diamond-Blackfan Anemia 12