Gene Summary

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

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
increased circulating magnesium level Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 4.54×10-06
decreased mean corpuscular volume Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 1.34×10-05
decreased hematocrit Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 5.46×10-05
thrombocytosis Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 4.42×10-08
decreased hemoglobin content Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 2.80×10-06
decreased circulating total protein level Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 3.30×10-06
decreased circulating bilirubin level Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 5.01×10-06
decreased circulating iron level Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 2.35×10-10
decreased mean corpuscular hemoglobin Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 9.18×10-08
decreased circulating serum albumin level Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 7.40×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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 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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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

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
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Ménétrier Disease
Multiple gastric polyps, Hypochromic microcytic anemia, Hypoproteinemia, Gastrointestinal hemorrh... ORPHA:2494
Immunodeficiency 69
Increased circulating ferritin concentration, Skin rash, Thrombocytosis, Leukocytosis, Pancytopen... OMIM:618963
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Elevated circul... OMIM:604416
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Myelodysplasia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Iron deficiency anemia, Inflammatory abnormality... ORPHA:398063
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Focal Segmental Glomerulosclerosis 1
Anemia, Hypoalbuminemia, Hyperlipidemia OMIM:603278
Anemia, Sideroblastic, 4
Sideroblastic anemia, Refractory anemia with ringed sideroblasts, Abnormal erythrocyte morphology OMIM:182170
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Familial Adenomatous Polyposis 4
Thyroid adenoma, Stomach cancer OMIM:617100
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Myelodysplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marro... ORPHA:86841
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Elevated circulating C-reactive protein concentration, Anemia, ... OMIM:619398
Acquired Idiopathic Sideroblastic Anemia
Myelodysplasia, Hypochromic anemia, Thrombocytosis, Leukocytosis, Refractory anemia with ringed s... ORPHA:75564
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Immunodeficiency 27A
Thrombocytosis, Increased inflammatory response, Leukocytosis, Salmonella osteomyelitis, Pneumoni... OMIM:209950
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Cirrhosis, Conjugated hyperbilirubinem... OMIM:616860
Plummer-Vinson Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Glossitis, Dysphagia, Cheilitis, Esophagea... ORPHA:54028
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Recurrent sinusitis, Chronic atrophic gastritis, Thr... OMIM:616576
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, ... ORPHA:2575
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Myelodysplasia, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomega... ORPHA:846
Gastric Cancer
Stomach cancer OMIM:613659
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegal... ORPHA:848
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Dominant Beta-Thalassemia
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231226
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Increased hemogl... OMIM:263300
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Lymphopenia, Septic arthritis, Pancyto... OMIM:617780
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia, Neutropenia OMIM:600351
Hypochromic anemia, Atransferrinemia, Abnormality of the liver OMIM:209300
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Hypochromic anemia, Microcytic anemia, Pappenheimer... OMIM:600462
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Acute monocytic leukemia, Thrombocytosis, Neutropenia, A... OMIM:202700
Beta-Thalassemia Major
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231214
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, A... ORPHA:231401
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Melen... ORPHA:98870
Thrombocythemia 2
Thrombocytosis OMIM:601977
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Intrinsic Factor Deficiency
Megaloblastic anemia, Increased mean corpuscular volume, Megaloblastic erythroid hyperplasia, Mal... OMIM:261000
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, T lymphocytopenia, Skin rash, Bronchiectasis, Reduced natura... OMIM:618108
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Glossitis, Hematochezia, Gastrointestinal carcinoma, Protein-losing enteropathy, Xe... OMIM:175500
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Atopic dermatitis, T... ORPHA:3240
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Lymphopenia, Chronic at... OMIM:616100
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Cholelithiasis, Increased erythrocyte protoporphyrin concentration OMIM:300752
Blue Rubber Bleb Nevus
Skin rash, Intestinal bleeding, Microcytic anemia, Gastrointestinal infarctions, Cavernous hemang... ORPHA:1059
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Pneumonia, Hepatomegaly, Diarrhea, Hypoa... OMIM:226300
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Adrenocortical adenoma, Elevated circulating growth hormone concentration, Increased circulating ... ORPHA:97283
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Generalized lymphadenopathy, Pneumonia, Pancytopenia, Lymphadenopath... OMIM:614700
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Decreased circulatin... ORPHA:48818
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Majeed Syndrome
Skin rash, Microcytic anemia, Erythroid hyperplasia, Delayed puberty, Anemia of inadequate produc... OMIM:609628
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Chronic diarrhea,... OMIM:619281
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Leukocytosis, Congenital hypoplastic anemia, Synovitis, H... ORPHA:77297
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Myelodysplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic... ORPHA:3202
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Microcytic anemia, Cholelithiasis, Abnormal circulating porphyrin concentration, Eczema ORPHA:79278
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Thrombocytopenia, Reduced natural kil... OMIM:616050
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... OMIM:237800
Oculocerebral Hypopigmentation Syndrome Of Preus
High palate, Hypochromic anemia, High, narrow palate OMIM:257790
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Macroglossia, Microcytic anemia, Hypothyroidism, Neutropenia, Hepatomegaly, Elevated circulating ... OMIM:251900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Thrombocythemia 3
Thrombocytosis OMIM:614521
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, A... OMIM:613673
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatom... OMIM:613313
Apolipoprotein A-I Deficiency
Anemia, Splenomegaly, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Mixed Connective Tissue Disease
Skin rash, Hemolytic anemia, Pericarditis, Gastrointestinal hemorrhage, Gastroesophageal reflux, ... ORPHA:809
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypochromic microcytic anemia, Hypothyroidism, Increased serum pyruvate, Hyperalaninemia, Anemia,... OMIM:619147
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis... ORPHA:3261
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Thrombocytopenia, Leukopenia, Anemia, Hypomagnesemia, Diabetes mellitus OMIM:613845
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Neutropenia, Colitis, Diarrhea... OMIM:608809
Alpha-Heavy Chain Disease
Hypocalcemia, Lymphoma, Hepatomegaly, Anemia, Splenomegaly, Abnormality of the small intestine, M... ORPHA:100025
Primary Myelofibrosis
Hemangioma, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Lymphadenopathy, Pancytop... ORPHA:824
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Hyperbilirubinemia, Portal hyperte... OMIM:616278
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Chronic diarrhea, Hepatomegaly, Hypoalbuminemia, Pancreatitis OMIM:618805
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Refractory Anemia
Erythroid hypoplasia, Myelodysplasia, Single lineage myelodysplasia, Neutropenia, Normocytic anem... ORPHA:98826
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Steatorrhea, Cholestasis, Hepatitis, Cholestatic liver disease, An... ORPHA:440713
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Constipation, Gastroesophageal reflux, Diarrhea, Abnormality of the ... ORPHA:263665
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Thyroiditis, Stomatitis, Steatorrhea, Lymph... OMIM:212750
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, An... ORPHA:507
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Gastric Cancer, Hereditary Diffuse
Neoplasm, Stomach cancer, Chronic atrophic gastritis, Cleft palate OMIM:137215
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Iridocyclitis, Autoimmune thrombocytopenia, Anteri... ORPHA:227990
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Chronic diarrhea, Ileitis, Protein-losing enteropathy, Pancolitis, Gastr... OMIM:619079
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypothyroidism, Hepatic steatosis, Hypopituitarism, Hypertriglyceridemia, Hypo... OMIM:619013
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Myelodysplasia, Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Incr... OMIM:619041
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Anemia OMIM:244460
Autoimmune Polyendocrinopathy Type 3
Xerostomia, Leukopenia, Autoimmune hypoparathyroidism, Non-caseating epithelioid cell granulomato... ORPHA:227982
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Cryptorchidism, Macroglossia, Reduced alpha/beta synthesis ratio, ... OMIM:141750
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Abnormality of iron homeostasis, Hypothyroidism, Lymphopenia, Villous ... ORPHA:84064
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Peptic ulcer, Hypercalcemia, Multiple lipomas, Primary hyperparathyroidism, Panc... OMIM:145981
Gitelman Syndrome
Iron deficiency anemia, Hypocalcemia, Hypomagnesemia, Maternal diabetes, Graves disease, Hypermag... ORPHA:358
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Congenital Atransferrinemia
Hypothyroidism, Abnormality of the pancreas, Anemia, Arthritis ORPHA:1195
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Recurrent sinusitis, Colitis, Thr... OMIM:613101
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Hep... OMIM:615234
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Microvesicular hepatic steatosis, Hypothyroidism, Elevated circula... ORPHA:66634
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Thrombocytosis, Lymphopenia, Paratracheal lymphadenopathy, Follicular hyperpl... OMIM:615934
Blue Rubber Bleb Nevus
Iron deficiency anemia, Hemangioma, Intestinal bleeding, Intussusception, Thrombocytopenia, Recta... OMIM:112200
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Lymphopenia ORPHA:90363
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Elevated circulating C-reactive protein concentration, Leukopenia, Anemi... OMIM:615688
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Decreased serum iron, Anisocytosis, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Peptic ulcer, Hypercalcemia, Multiple lipomas, Primary hyperpa... OMIM:600740
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia, Pancreatitis, Parathyroid adenoma, Hyperparathyroidism OMIM:145980
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Anemia OMIM:611283
Dermatitis Herpetiformis
Eczema, Malabsorption, Microcytic anemia ORPHA:1656
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating parathyroid hormone level, Male hypogonadism, Iridocyclitis, Chronic oral c... OMIM:240300
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Hypoalbuminemia ORPHA:90362
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation, Gastric ulcer, Decreased circulating 12-HE... OMIM:618372
Severe periodontitis, Microcytic anemia, Type I diabetes mellitus, Type II diabetes mellitus, Neo... ORPHA:926
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Hypoalbuminemia, Anemia OMIM:608104
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Eosinophilic Gastroenteritis
Leukocytosis, Hypoalbuminemia, Anemia, Elevated circulating C-reactive protein concentration, Eos... ORPHA:2070
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Skin rash, Neutropenia, Thrombocy... OMIM:603552
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hemobilia, Neoplasm, Jaundice, Hypercalcemia, Hypoalbumin... ORPHA:88673
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... OMIM:133180
Specific Granule Deficiency 2
Absent neutrophil specific granules, Myelodysplasia, Recurrent otitis media, Neutropenia, Thrombo... OMIM:617475
Refractory Anemia With Excess Blasts
Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate production, Abnormal... ORPHA:86839
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Macroglossia, Cryptorchidism, Constipation, Gastroesophageal reflu... OMIM:301040
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Hypothyroidism, Lymphopenia, ... OMIM:618849
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Acne inversa, Arteritis, Leukocytosis, Stomatitis, Thrombocytopenia, Hepatome... OMIM:233600
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Monosomy 22
Hypochromic microcytic anemia, Seborrheic dermatitis, Aplasia of the thymus, Meningioma, Gonadal ... ORPHA:96123
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Sideroblastic anemia, B lymphocytopenia, Splenomegaly, Schistocytosis OMIM:616084
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Hypochromic anemia, Microcytic anemia OMIM:618451
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Central hypothyroidism... ORPHA:514
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Thrombocytopenia, ... ORPHA:69077
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Elevated hepatic iron concentration, Cirrhosis, Extramedul... ORPHA:231222
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Hyperbilirubinemia, Cholelithias... OMIM:235700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, High palate, HbH hemoglobin, Microcytic anemia ORPHA:98791
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Gastrointestinal hemorrhage, Autoimmune thrombocytope... ORPHA:324636
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Lymphopenia, Neutropenia, Anemia, Hypogo... OMIM:604250
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Constipation, Nausea, Hyperuricemia, Hepatomegaly, Jaundice, D... ORPHA:469
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:612653
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Primary adrenal insufficien... OMIM:269200
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test OMIM:229100
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Hypoalbuminemia, Leu... ORPHA:292
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Normochromic anemia, Hemolytic anemia, Decreased HDL cholesterol concentration OMIM:245900
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Exocrine pancreatic insufficiency, Steatorrhea, Hepatomegaly, Jaund... OMIM:612714
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Megaloblastic anemia, Biliary cirrhosis, Biliary tract obstruc... OMIM:219721
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... ORPHA:300298
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Trichohepatoenteric Syndrome 1
Cirrhosis, Thrombocytosis, Abnormality of iron homeostasis, Villous atrophy, Hypermethioninemia, ... OMIM:222470
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormality of the tonsils, Abnormal lymphocyte morphology... ORPHA:229717
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
Juvenile Polyposis Syndrome
Multiple gastric polyps, Hematochezia, Intussusception, Rectal prolapse, Hypokalemia, Duodenal ad... OMIM:174900
Hypothyroidism, Microcytic anemia, Decreased response to growth hormone stimuation test ORPHA:324737
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Peptic ulcer, Hypercalcemia, Pancreatitis, Infantile hyp... ORPHA:405
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Helix Syndrome
Xerostomia, Hypermagnesemia, Hyperparathyroidism, Hypokalemia OMIM:617671
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Microcytic anemia OMIM:612379
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Peutz-Jeghers Syndrome
Iron deficiency anemia, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Intestinal blee... OMIM:175200
Cap Polyposis
Hematochezia, Constipation, Chronic atrophic gastritis, Colorectal polyposis, Diarrhea ORPHA:160148
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Peritonitis, Pericarditis, Ileitis, Neutropenia, Melena, Diarrhea, Sinusitis, Vomiting, Myocardit... ORPHA:73263
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Myelodysplasia, Adenocarcinoma... ORPHA:124
Pearson Syndrome
Hypocalcemia, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Anemia, Hypomagnes... ORPHA:699
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyponatremia, Neutropenia, Hypoalbumin... ORPHA:1667
Anemia ORPHA:655
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Decreased testicular size, Microvesicular hepatic steatosis, Normochromic microcy... OMIM:610198
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Acute Erythroid Leukemia
Erythroid hypoplasia, Refractory anemia with ringed sideroblasts, Pancytopenia, Leukopenia, Anemi... ORPHA:318
Klippel-Trénaunay Syndrome
Hepatomegaly, Hemangioma, Gastrointestinal hemorrhage, Microcytic anemia ORPHA:90308
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Dysphagia, Nausea, Hyponatremia, Eleva... ORPHA:94093
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Chronic otitis media, Aplasia/Hypoplasia of the thymus, Di... ORPHA:33355
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Hepatomegaly,... OMIM:618278
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Lymphoproliferative disorder, Autoimmune thrombocyt... OMIM:613011
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Mitochondrial Dna Depletion Syndrome 19
Hydrocele testis, Microcytic anemia OMIM:618972
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Hypoproteinemia, Leukocytosis ORPHA:340
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Hyperparathyroidism, Anemia ORPHA:2668
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Hypoproteinemia, Increased propor... ORPHA:167
Poems Syndrome
Lymphoproliferative disorder, Hemangioma, Thrombocytosis, Hypothyroidism, Primary adrenal insuffi... ORPHA:2905
Johanson-Blizzard Syndrome
Hypoproteinemia, Anemia ORPHA:2315
X-Linked Agammaglobulinemia
Hypocalcemia, Skin rash, Recurrent pneumonia, Abnormality of the tonsils, Chronic diarrhea, Chron... ORPHA:47
Wt Limb-Blood Syndrome
Cryptorchidism, Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Pericarditis, Pneumonia, Elevated circulating C-reactive protein concentration, Anemia, Hypersple... ORPHA:1304
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia, Hypergonadotropic hypogonadism, Hepatic steatosis, Gastroes... ORPHA:2959
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Chronic hepatitis, Anemia, Vomiting, Neutrophilia, Eczema, Eosinophi... ORPHA:3260
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Ovarian neoplasm, Colorectal polyposis, Adenomatous... ORPHA:157798
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Nausea, Hyponatremia, Abnormal blood ion concentrat... ORPHA:31824
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomega... OMIM:109270
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Constipation, Sea-blue histiocytosis, Hepatomegaly, Pr... OMIM:257200
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... ORPHA:540
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Intestinal carcinoid, Increased hematocrit, Elevated circulating growth h... ORPHA:100076
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Acute myelomonocytic leukemia, Abnormal m... ORPHA:2585
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hyperbilirubinemia, Hypoalbuminemia, Splenomegaly OMIM:251880
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Decreased testicular size, Thrombocytopenia OMIM:601815
Dubin-Johnson Syndrome
Abnormality of the gastric mucosa ORPHA:234
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:185000
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:182900
Congenital Erythropoietic Porphyria
Hemolytic anemia, Scleritis, Increased erythrocyte protoporphyrin concentration, Reticulocytosis,... ORPHA:79277
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypergonadotropic hypogonadism, Hypothyroidism, Hepatic steatosis, Hypocholestero... OMIM:212065
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Leukocytosis, Hyperuricemia, Acute pancreatitis, Hepatomegaly, Jaundice, Diarrhea... ORPHA:20
Increased circulating ferritin concentration, Decreased serum iron, Anemia, Diabetes mellitus, Ac... OMIM:604290
Diffuse Neonatal Hemangiomatosis
Hemangiomatosis, Thrombocytopenia, Hepatomegaly, Hypercalcemia, Anemia, Visceral angiomatosis ORPHA:2123
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Osteoarthritis, Anemia OMIM:606069
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Diarrhea, Leukopenia, Anemia, Vomiting, Hyperspleni... OMIM:278000
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Diabetes insipidus, Di... OMIM:598500
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Cogan Syndrome
Thrombocytosis, Scleritis, Leukocytosis, Uveitis, Conjunctivitis, Keratitis, Episcleritis, Anemia... ORPHA:1467
Shwachman-Diamond Syndrome
Skin rash, Neutropenia, Pneumonia, Pancytopenia, Pancreatic hypoplasia, Leukopenia, Anemia, Sinus... ORPHA:811
Peutz-Jeghers Syndrome
Neoplasm, Breast carcinoma, Anemia, Vomiting, Gastrointestinal infarctions, Abnormality of the ga... ORPHA:2869
Colorectal Cancer
Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma OMIM:114500
H Syndrome
Bronchiectasis, Microcytic anemia, Lymphadenopathy, Hypertriglyceridemia, Delayed puberty, Histio... ORPHA:168569
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia OMIM:273680
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Leukocytosis, Bloody diarrhea, Anoperineal fistula, Perianal ... OMIM:618213
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia, Diarrhea, Leukopenia, Mala... OMIM:229050
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Vexas Syndrome
Chondritis of pinna, Myelodysplasia, Inflammatory abnormality of the skin, Arteritis, Neutrophili... OMIM:301054
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Acquired Von Willebrand Syndrome
Hypochromic anemia, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Normocytic anem... ORPHA:99147
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hyperuricemia, Hepatomegaly, Diarrhea, Vomiting, Hyperammonemia ORPHA:134
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Bifid uvula, Cleft palate, Increased mean corpuscular volume, Macroc... OMIM:612561
Gastrointestinal Stromal Tumor
Skin rash, Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestina... ORPHA:44890
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Liver abscess, Abnormality of the pancreas, Diarrhea, Elevated circul... ORPHA:54251
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Thiamine-responsive megaloblastic anemia, Gastroesophageal reflux, Sideroblastic ... OMIM:249270
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Hypothyroidism, Villous atrophy, C... OMIM:304790
Oslam Syndrome
Abnormality of neutrophils, Osteosarcoma, Increased mean corpuscular volume ORPHA:2760
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Anemia, Leukopenia, Pancreatitis, Hyperammonemia, Macrocytic anemia ORPHA:27
Wiskott-Aldrich Syndrome
Chronic leukemia, Neutropenia, Neoplasm, Anemia, Sinusitis, Eczema, Otitis media, Acute leukemia,... ORPHA:906
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Adrenocortical adenoma, Elevated circulating growth hormone concentration, Increased circulating ... ORPHA:97282
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Zollinger-Ellison syndrome, Atypical pulmonary carcinoid tumor, Hematemes... ORPHA:100075
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased T3/T4 ratio, Constipation, Impaired sensitivity to thyroid hormone, Conge... OMIM:614450
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Functional intestinal obstruction, Gastrointestinal obstruction, Zollinge... ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia, Functional intestinal obstruction, Gastrointestinal obstruction, Zollinge... ORPHA:100077
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Hemolytic anemia, Lymphopenia, Ileal ulcer, Colitis, Thrombocytopenia, Anterior uveitis OMIM:616744
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Myelodysplasia, Monocytosis, Lymphoma, Acute myeloid leukemia, Leukopenia, Refractory anemia, Ecz... OMIM:616871
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Hemo... OMIM:600903
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Chronic diarrhea, Neutropenia, Conjuncti... OMIM:616740
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia OMIM:141000
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia OMIM:616435
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Anemia, Elevated alpha-fetoprotein, Neutropenia OMIM:617243
Lesch-Nyhan Syndrome
Gout, Hyperuricemia, Anemia ORPHA:510
Familial Benign Copper Deficiency
Acne, Anemia, Decreased circulating copper concentration ORPHA:1551
Copper Deficiency, Familial Benign
Seborrheic dermatitis, Anemia, Abnormal circulating copper concentration, Decreased circulating c... OMIM:121270
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholecystitis, Cholelithiasis, Normocytic anemia, Jaundice, Dela... OMIM:611881
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Delayed puberty, Anemia ORPHA:2598
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia, Bronchiectasis, Pneumonia, Lymphocytic interstitial p... ORPHA:2968
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Abnormality of the peritoneum, Hepatome... ORPHA:83469
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphogl... OMIM:232800
Ollier Disease
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Anemia, Visceral angiom... ORPHA:296
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Hypoalbuminemia, Anemia ORPHA:67
Cinca Syndrome
Skin rash, Leukocytosis, Uveitis, Lymphadenopathy, Elevated circulating C-reactive protein concen... OMIM:607115
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Myelodysplasia, Thrombocytosis, Congenital hypoplast... OMIM:105650
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Hyperlysinemia, Type I
Anemia, Hyperlysinemia OMIM:238700
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Neoplasm, Furrowed tongue, Hepatomegaly, Stomach cancer, Intestinal p... ORPHA:2930
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Cryptorchidism, Microcytic anemia, Insulin-resistant diabetes mellitus, Delayed puberty, Bifid uv... ORPHA:293967
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Neonatal hyperbi... OMIM:618892
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Macrocytic anemia, Reticulocyto... OMIM:615550
Avian Influenza
Lymphopenia, Thrombocytopenia, Hypoalbuminemia, Leukopenia, Elevated circulating C-reactive prote... ORPHA:454836
Ethylene Glycol Poisoning
Hypocalcemia, Nausea, Gastritis, Vomiting, Hyperkalemia ORPHA:31826
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly ORPHA:1655
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Wolman Disease
Bone-marrow foam cells, Esophageal varix, Steatorrhea, Hepatomegaly, Adrenal insufficiency, Anemi... ORPHA:75233
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia OMIM:250940
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Hypotriglyceridemia, Constipation, Decreased serum creatinine, Decreased ... OMIM:618885
Late-Onset Isolated Acth Deficiency
Graves disease, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insuffici... ORPHA:199299
Transaldolase Deficiency
Cirrhosis, Thrombocytopenia, Abnormal circulating glutamine concentration, Anemia, Hepatosplenome... ORPHA:101028
Diamond-Blackfan Anemia 11
Neutropenia, Anemia of inadequate production, Anemia, Cleft palate, Bone marrow hypocellularity OMIM:614900
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Cryptorchidism, Hematochezia, Hypothyroidism, Hyponatremia, Protein-losing enteropa... OMIM:618183
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Leukopenia, Anemia OMIM:617303
Hamamy Syndrome
Cryptorchidism, Hypochromic anemia, Microcytic anemia, Dysphagia, High palate, Hypoparathyroidism OMIM:611174
Gaucher Disease, Type Ii
Dysphagia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent aspiration pneumonia OMIM:230900
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production OMIM:300367
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, High palate, Hypochromic anemia ORPHA:2720
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Schnitzler Syndrome
Skin rash, Leukocytosis, Lymphoma, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy, Arthritis ORPHA:37748
Familial Thrombocytosis
Myelodysplasia, Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly ORPHA:71493
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelith... ORPHA:309108
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Dysphagia, Hepatomegaly OMIM:613561
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volum... OMIM:277410
Reynolds Syndrome
Dysphagia, Xerostomia, Gastroesophageal reflux, Abnormality of the gastric mucosa ORPHA:779
Skin rash, Adrenocortical adenoma, Elevated circulating growth hormone concentration, Increased c... ORPHA:97280
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Methylcobalamin Deficiency Type Cble
Neutropenia, Pancytopenia, Vomiting, Abnormality of the liver, Hypomethioninemia, Increased mean ... ORPHA:2169
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Panniculitis, Pancytopenia, Hyper... OMIM:618398
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia OMIM:236270
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic myelomonocytic leukemia, Diarrhea, Abnormal mast cell morphology, Neutrophilia, Eosinophi... ORPHA:98849
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus, Diarrhea ORPHA:49827
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Myelodysplasia, Cirrhosis, Gastroesophageal reflux, Pancytopenia, Aplastic anem... OMIM:614742
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Hyperammonemia, Anemia ORPHA:28
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Hypermanganesemia, Polycy... OMIM:613280
Gamma-Heavy Chain Disease
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Dysphagia, Abnormal lymphocy... ORPHA:100026
Good Syndrome
Bronchiectasis, Dysphagia, Aplasia/Hypoplasia of the thymus, Thrombocytopenia, Mediastinal lympha... ORPHA:169105
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Multiple gastric polyps, Rectal polyposis, Hematochezia, Small intestinal polyposis, Adenomatous ... ORPHA:329971
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty, Nephroblastoma, Anemia, Exostoses ORPHA:52022
Candidiasis, Familial, 2
Chronic oral candidiasis, Decreased serum iron, Hypereosinophilia, Lymphadenopathy OMIM:212050
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia, Anemia ORPHA:371
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Leukocytosis, Neutropenia,... ORPHA:98850
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2