Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased 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
increased circulating magnesium level Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 7.49×10-06
decreased circulating total protein level Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 4.16×10-06
decreased circulating serum albumin level Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 1.16×10-05
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
decreased circulating bilirubin level Kcne2tm1a(EUCOMM)Wtsi HOM Early adult 4.41×10-06
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

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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 0.73% (4 of 545)
aorta 0.18% (1 of 541)
blood vessel 0.0%
bone 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 547)
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.36% (2 of 555)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
parathyroid gland 0.0%
peripheral nervous system 0.37% (2 of 542)
peyer's patch 0.66% (1 of 152)
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
skeletal muscle tissue 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
striatum 0.37% (2 of 547)
testis 1.1% (6 of 545)
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
trachea 0.54% (3 of 557)
uterus 0.36% (2 of 554)
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
phenotypes
Matching phenotypes Source
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Atrial Fibrillation, Familial, 4
OMIM:611493
Long Qt Syndrome 6
OMIM:613693

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Hypoprotein... ORPHA:2494
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Skin rash, Hepatospleno... OMIM:618963
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, ... OMIM:604416
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Myelodysplasia, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Sickle Cell Anemia
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... ORPHA:232
Anemia, Sideroblastic, 5
Refractory anemia with ringed sideroblasts, Hypochromic microcytic anemia, Neutropenia, Reduced h... OMIM:619523
Refractory Celiac Disease
Malabsorption, Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Inflammatory abno... ORPHA:398063
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Anemia, Sideroblastic, 4
Sideroblastic anemia, Refractory anemia with ringed sideroblasts, Abnormal erythrocyte morphology OMIM:182170
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Erythroid hypoplasia, Macrocytic anemi... ORPHA:86841
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative ... OMIM:619398
Familial Adenomatous Polyposis 4
Thyroid adenoma, Stomach cancer OMIM:617100
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent skin infections, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, Atrophic gas... OMIM:616576
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... OMIM:616860
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Di... OMIM:209950
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Gastritis, Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal ery... ORPHA:2575
Plummer-Vinson Syndrome
Decreased circulating ferritin concentration, Cheilitis, Esophageal web, Hypochromic microcytic a... ORPHA:54028
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... ORPHA:846
Gastric Cancer
Stomach cancer OMIM:613659
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, A... ORPHA:848
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies OMIM:614164
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Vomiting, Macrocytic ... OMIM:617780
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Diarrhea, Abnormality of iron homeostasis, Jaund... ORPHA:231226
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Incr... ORPHA:98870
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Eczema, Decreased prealbumin level, Vomiting, Type I diabet... ORPHA:37042
Atransferrinemia
Abnormality of the liver, Atransferrinemia, Hypochromic anemia OMIM:209300
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... ORPHA:231401
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
High palate, Increased circulating ferritin concentration, Hypochromic anemia, Pappenheimer bodie... OMIM:600462
Blue Rubber Bleb Nevus
Intestinal bleeding, Skin rash, Microcytic anemia, Gastrointestinal infarctions, Cavernous hemang... ORPHA:1059
Thrombocythemia 2
Thrombocytosis OMIM:601977
Hyperlysinemia, Type I
Anemia, Hyperlysinemia OMIM:238700
Thrombocythemia 3
Thrombocytosis OMIM:614521
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Diarrhea, Aniso... ORPHA:231214
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Malabsorption, Absence of intrinsic fact... OMIM:261000
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... OMIM:267700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Lymphopenia, Hepatomegaly, Splenomegaly, Eczema, Diarrhea, Autoimmune thrombocyt... OMIM:616100
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Hypomagnesemia, Hypokalemia, Hypocalcemia, Xerostomia, Diarrhea, Vomiting, Hematoc... OMIM:175500
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Diarrhea, B lymphocytopenia, Inflammation of the large intestine, T lymphoc... OMIM:618108
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... OMIM:603554
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphoproliferative disorder, B lymphocytopenia, Uveitis, Type I diabetes mellitus, Pneumonia, Pa... OMIM:614700
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Hepatomegaly, Hypoproteinemia, Diarrhea, Vomiting, Iron deficiency anemia, Intesti... OMIM:226300
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Atopic dermatitis, Diarrhea, Vomiting, Hypochromic ... ORPHA:3240
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Colitis, Elevated circulating C-reactive protein concentration, Lymphocytosis,... OMIM:301074
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Increased erythrocyte protoporphyrin concentration, Iron deficiency anemia OMIM:300752
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... OMIM:613673
Immunodeficiency 14B, Autosomal Recessive
Colitis, Neutrophilia, Leukocytosis, Monocytosis, Inflammation of the large intestine, B lymphocy... OMIM:619281
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Somatostatinoma
Medullary thyroid carcinoma, Constipation, Hepatomegaly, Steatorrhea, Adrenocortical adenoma, Dia... ORPHA:97283
Majeed Syndrome
Malabsorption, Osteomyelitis, Hepatomegaly, Inflammatory abnormality of the skin, Leukocytosis, C... ORPHA:77297
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Aceruloplasminemia
Increased circulating ferritin concentration, Abnormal pancreas morphology, Diabetes mellitus, Ac... ORPHA:48818
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Elevated circulating C-reactive protein concentration, Hypochromic microcytic an... OMIM:619632
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Osteomyelitis, Inflammatory a... OMIM:609628
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Myelodysplasia, Erythroid hypoplasia OMIM:153550
Combined Oxidative Phosphorylation Deficiency 53
Osteomyelitis, Elevated circulating C-reactive protein concentration, Hepatomegaly, Hypochromic m... OMIM:619423
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Peritoneal effusion, Hypoproteinemia, Increased stool ... ORPHA:90362
Juvenile Arthritis
Thrombocytosis, Skin rash, Leukocytosis OMIM:618795
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Eczema, Abnormal circulating porphyrin concentration, Microcytic anemia ORPHA:79278
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He... OMIM:603553
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Oculocerebral Hypopigmentation Syndrome Of Preus
High palate, High, narrow palate, Hypochromic anemia OMIM:257790
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Macroglossia, Elevated circulating creatine kinase concentration, Hypothyroidism, M... OMIM:251900
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
High palate, Elevated circulating C-reactive protein concentration, Elevated circulating amyloid ... OMIM:619750
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, S... OMIM:224120
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal ... OMIM:616278
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Vomiting, Hypochromic microcytic anemia, Hypothyroidism, Hyperalaninemi... OMIM:619147
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Bloody diarrhea, Duodenal atresia, Lymphopenia, Enterocolitis, Leukocytosis, Jejunal atresia, Int... OMIM:243150
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia, Diabetes mellitus OMIM:613845
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hemangioma, Hepatosplenom... ORPHA:824
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Colitis, Eczema, Diarrhea, Inflammation of the large intestine, Arthritis, Neu... OMIM:608809
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Alpha-Heavy Chain Disease
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Lymphoma, Abnormality of the small intes... ORPHA:100025
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Microcytic anemia, Hypoalbuminemia, Chronic diarrhea, Hepatic steatosis OMIM:618805
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Non-Hodgkin lymphoma, Basal... ORPHA:3261
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Mixed Connective Tissue Disease
Gastroesophageal reflux, Gastritis, Hepatomegaly, Splenomegaly, Skin rash, Leukopenia, Xerostomia... ORPHA:809
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Cholestasis, Hypochromic microcytic anemia, Hepatitis, Po... ORPHA:440713
Autoimmune Polyendocrinopathy Type 4
Thymoma, Celiac disease, Iridocyclitis, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Leu... ORPHA:227990
Refractory Anemia
Anemia of inadequate production, Single lineage myelodysplasia, Normocytic anemia, Erythroid hypo... ORPHA:98826
Hypocalciuric Hypercalcemia, Familial, Type Ii
Pancreatitis, Primary hyperparathyroidism, Multiple lipomas, Peptic ulcer, Hypercalcemia, Hyperma... OMIM:145981
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Steatorrhea, Eczema, Diarrhea, Vomiting, Lymphoma, Macrocytic anemia, Iron deficien... OMIM:212750
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Myelodysplasia, Pancytopenia, Bone marrow hypocel... OMIM:619041
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Elevated circulating C-reactive protein concentration, Diarrhea, Vomiting, B lymphocyt... OMIM:619381
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Constipation, Gastroesophageal reflux, Intestinal polyp, Diar... ORPHA:263665
Autoimmune Polyendocrinopathy Type 3
Thymoma, Iridocyclitis, Graves disease, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Aut... ORPHA:227982
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, Anemia, ... ORPHA:507
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia, Hyp... OMIM:619013
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Pancolitis, Vomiting, Protein-losing enteropathy, Chronic di... OMIM:619079
Kenny-Caffey Syndrome, Type 1
Congenital hypoparathyroidism, Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Malaria
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Spo... ORPHA:1876
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Blue Rubber Bleb Nevus
Abnormality of the liver, Intestinal bleeding, Intussusception, Hemangioma, Iron deficiency anemi... OMIM:112200
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Supernumerary nipple, Macroglossia, Reduced alpha/beta synthesis ratio, Hypochromic ... OMIM:141750
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Gitelman Syndrome
Neoplasm of the pancreas, Hypomagnesemia, Hypokalemia, Constipation, Hypocalcemia, Parathyroid ad... ORPHA:358
Syndromic Diarrhea
Bloody diarrhea, Colitis, Gastritis, Intractable diarrhea, Lymphopenia, Splenomegaly, Hepatoblast... ORPHA:84064
Congenital Atransferrinemia
Hypothyroidism, Anemia, Abnormality of the pancreas, Arthritis ORPHA:1195
Dengue Fever
Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Immunodeficiency 92
Osteomyelitis, Hepatomegaly, Lymphocytosis, Leukocytosis, Sclerosing cholangitis, B lymphocytopen... OMIM:619652
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Elevated circulating glutaric ac... ORPHA:66634
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Pancreatitis, Primary hyperparathyroidism, Multiple lipomas, Peptic ulcer, Hype... OMIM:600740
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Multiple myeloma, Elevated circulating C-reactive p... ORPHA:158057
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Pyloric Stenosis, Infantile Hypertrophic, 1
Projectile vomiting, Pyloric stenosis OMIM:179010
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Lymphopenia, Pustule, Skin rash, Leukopeni... OMIM:615934
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... OMIM:613101
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Malabsorption, Adrenal insufficiency, Decreased circulating a... OMIM:240300
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... OMIM:616959
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hepatocellular Carcinoma
Hepatomegaly, Diarrhea, Esophageal varix, Jaundice, Hyperbilirubinemia, Hyponatremia, Hepatic nec... ORPHA:88673
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Hepatomegaly, Lymphoproliferative disorder... OMIM:615688
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Anemia OMIM:611283
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Hypocalciuric Hypercalcemia, Familial, Type I
Pancreatitis, Parathyroid adenoma, Hypercalcemia, Hypermagnesemia, Hyperparathyroidism OMIM:145980
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hemato... OMIM:259720
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Hypothyroidism, Recu... OMIM:618849
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibr... OMIM:613313
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Anemia, Thrombocytopenia,... OMIM:133180
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Iron deficiency anemia, Impaired platelet aggregation, Decreased serum thromboxan... OMIM:618372
Acatalasemia
Type II diabetes mellitus, Severe periodontitis, Microcytic anemia, Type I diabetes mellitus, Neo... ORPHA:926
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Dermatitis Herpetiformis
Malabsorption, Microcytic anemia, Eczema ORPHA:1656
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi... ORPHA:2070
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Hepatomegaly, Diarrhea, Hematochezia, Pneumonia, Pa... OMIM:615846
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... OMIM:603552
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Combined Oxidative Phosphorylation Deficiency 55
High palate, Hypophosphatemic rickets, Hypomagnesemia, Constipation, Hypophosphatemia, Elevated c... OMIM:619743
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hepatomegaly, Cleft palate, Cervical lymph... OMIM:619573
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... ORPHA:64743
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... OMIM:620044
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... OMIM:601775
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Sideroblastic anemia OMIM:616084
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Folate Malabsorption, Hereditary
Malabsorption, Leukopenia, Diarrhea, Neutropenia, Thrombocytopenia, Folate-responsive megaloblast... OMIM:229050
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Hypogonadotropic hypogonadism, Cirrhos... OMIM:604250
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Monosomy 22
High palate, Aplasia of the thymus, Hepatosplenomegaly, Hypochromic microcytic anemia, Sarcoma, S... ORPHA:96123
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Normocytic ane... OMIM:235700
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... ORPHA:514
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia OMIM:608898
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Rhabdoid Tumor
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Hypercalcemia, Ane... ORPHA:69077
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Gastroesophageal reflux, Constipation, Macroglossia, Reduced alpha/beta synthesis ratio, Hypochro... OMIM:301040
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bloody diarrhea, Intestinal bleeding, Uterine neoplasm, Multiple gastri... OMIM:175200
Cap Polyposis
Constipation, Diarrhea, Hematochezia, Colorectal polyposis, Atrophic gastritis ORPHA:160148
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Osteoarthritis, Diabetes m... OMIM:606069
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Cryptorchidism, Microcytic anemia, High palate ORPHA:98791
Hereditary Fructose Intolerance
Hypophosphatemia, Constipation, Hepatomegaly, Diarrhea, Vomiting, Nausea, Hyperuricemia, Hypermag... ORPHA:469
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Constipation, Hepatomegaly, Splenomegaly, Vomiting, Microcytic anemia, Pr... OMIM:257200
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Skin rash, Sple... OMIM:612714
Barth Syndrome
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia OMIM:302060
Familial Hypocalciuric Hypercalcemia
Lipoma, Pancreatitis, Renal hypophosphatemia, Peptic ulcer, Hypercalcemia, Hypermagnesemia, Infan... ORPHA:405
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Zygomycosis
Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Diarrhea, Vomiting, Acute in... ORPHA:73263
Interstitial Lung And Liver Disease
Hepatomegaly, Hyperammonemia, Cirrhosis, Intraalveolar phospholipid accumulation, Vomiting, Chole... OMIM:615486
Erythrocytosis, Familial, 4
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... OMIM:611783
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Diarrhea, Autoimmune thrombocytopenia, Vomiting, Thrombocytosis, Naus... ORPHA:324636
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Hypoalbuminemia OMIM:608104
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia OMIM:245900
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Positive ferric chloride test, Hypersegmentation of neutrophil nuclei OMIM:229100
Isolated Agammaglobulinemia
Malabsorption, Sinusitis, Skin rash, Otitis media, Diarrhea, Abnormality of the lymphatic system,... ORPHA:229717
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia OMIM:246700
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612653
Trimethylaminuria
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly OMIM:602079
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Erythrocytosis, Familial, 5
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... OMIM:617907
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia, Iron deficiency anemia ORPHA:89937
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... ORPHA:300298
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Johanson-Blizzard Syndrome
Anemia, Hypoproteinemia ORPHA:2315
Brucellosis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Vomiting, Myocarditis, Epidi... ORPHA:1304
Congenital Disorder Of Glycosylation, Type Iq
Dysphagia, Eczema, Microcytic anemia OMIM:612379
Congenital Disorder Of Glycosylation, Type Ii
High palate, Gastroesophageal reflux, Hepatomegaly, Diarrhea, Iron deficiency anemia, Hypothyroidism OMIM:607906
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
3-Methylglutaconic Aciduria, Type V
Normochromic microcytic anemia, Cryptorchidism, Microvesicular hepatic steatosis, Decreased testi... OMIM:610198
Reticular Dysgenesis
Malabsorption, Skin rash, Leukopenia, Diarrhea, Chronic otitis media, Abnormality of neutrophils,... ORPHA:33355
Nephronophthisis
Anemia ORPHA:655
Helix Syndrome
Hyperparathyroidism, Xerostomia, Hypermagnesemia, Hypokalemia OMIM:617671
Juvenile Polyposis Syndrome
Hypokalemia, Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Diarrhea, Hematoc... OMIM:174900
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Mitochondrial Dna Depletion Syndrome 19
Hydrocele testis, Microcytic anemia OMIM:618972
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... ORPHA:292
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Megaloblastic anemia, Exocrine pancreatic insufficiency, Gastritis, Meconium ileus, Diarrhea, Bil... OMIM:219721
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Srd5A3-Cdg
Hypothyroidism, Microcytic anemia, Decreased response to growth hormone stimulation test ORPHA:324737
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis, Neonatal hyperbilirubinemia OMIM:130600
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Median cleft lip and palate, Hypopl... ORPHA:699
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Steatorrh... OMIM:269200
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Hypon... ORPHA:1667
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Malignant genitourinary tract tumor, High palate, Neutropenia,... ORPHA:124
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... OMIM:258900
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Acute Erythroid Leukemia
Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Anemia, Refractory a... ORPHA:318
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hemangioma, Microcytic anemia, Hepatomegaly ORPHA:90308
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Increased circulating ferritin concentration, Neutropenia, Vacuola... ORPHA:167
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Aspiration pneumonia, Elevated circulating creatine k... ORPHA:94093
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Hodgkin lymphoma, B-cell lymphoma, Elevated circula... OMIM:613011
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Leukocytosis, Eosinophilic infiltration of the esophagus, Pancolitis, Hypochromi... OMIM:618213
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... ORPHA:158048
Wt Limb-Blood Syndrome
Hypoplastic anemia, Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukemia OMIM:194350
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
X-Linked Agammaglobulinemia
Neoplasm, Malabsorption, Hypocalcemia, Osteomyelitis, Sinusitis, Skin rash, Glossoptosis, Abnorma... ORPHA:47
Poems Syndrome
Abnormality of the endocrine system, Polycythemia, Hemangioma, Lymphoproliferative disorder, Incr... ORPHA:2905
Trichohepatoenteric Syndrome 1
Intractable diarrhea, Hepatomegaly, Splenomegaly, Cirrhosis, Bifid uvula, Cholestasis, Abnormalit... OMIM:222470
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hemangiomatosis, Hypercalcemia, Anemia, Thrombocytopenia, Visceral angiomatosis ORPHA:2123
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia, Abnormal circulating histidine concentration ORPHA:51208
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Diarrhea, Vomiting, My... ORPHA:31824
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Anemia, Hypercalcemia ORPHA:2668
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly OMIM:251880
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Eczema, Vomiting, Erythroderma, Portal fibr... ORPHA:3260
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Ovarian neoplasm, Neoplasm of the large intestine, Colorectal poly... ORPHA:157798
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia, Decreased testicular size OMIM:601815
Duodenal Neuroendocrine Tumor
Melena, Elevated circulating growth hormone concentration, Hematemesis, Increased hematocrit, Glu... ORPHA:100076
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... ORPHA:540
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... OMIM:618278
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Splenomegaly, Anisocytosis, Leukopenia, Neoplasm of the skin... ORPHA:79277
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Hepatomegaly OMIM:604273
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Neoplasm, Gastroesophageal reflux, Decreased serum testosterone concent... ORPHA:2959
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Liver Disease, Severe Congenital
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Increased circulating fer... OMIM:619991
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Cryptorchidism, Hypomagnesemia, Hypothalamic hamartoma OMIM:619908
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... OMIM:109270
Aceruloplasminemia
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron, Diabetes ... OMIM:604290
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Eczema, Hematochezia, Blepharitis, Conjunctivitis, Inflammation of the l... ORPHA:906
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Eczema, Aplastic anemia, Macrocytic... ORPHA:811
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Diarrhea, Vomiting, Hypothyroidism, Th... OMIM:212065
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Sideroblastic anemia, Neutropenia, Diabetes mellitus, Thrombocytopenia, Dia... OMIM:598500
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Hyperammonemia, Leukopenia, Diarrh... ORPHA:20
Spherocytosis, Type 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:182900
Neuroendocrine Tumor Of Stomach
Melena, Bloody diarrhea, Atypical pulmonary carcinoid tumor, Increased serum serotonin, Hematemes... ORPHA:100075
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Recurrent to... ORPHA:183675
Cogan Syndrome
Keratitis, Leukocytosis, Thrombocytosis, Uveitis, Anemia, Episcleritis, Conjunctivitis, Inflammat... ORPHA:1467
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Bone Marrow Failure Syndrome 5
Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism OMIM:618165
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Congenital Disorder Of Glycosylation, Type Iit
Constipation, Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron deficienc... OMIM:618885
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Acquired Von Willebrand Syndrome
Melena, Hypochromic anemia, Normocytic anemia, Hematological neoplasm, Refractory anemia, Gastroi... ORPHA:99147
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Stomach cancer, Neoplasm of the small intestine, Vomiting, Rectal prolaps... ORPHA:2869
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Cleft palate, Persistence of hemoglobin F, Bifid uvula, Macroc... OMIM:612561
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
H Syndrome
Histiocytosis, Bronchiectasis, Malabsorption, Hepatosplenomegaly, Chronic rhinitis, Hypertriglyce... ORPHA:168569
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Stercoral ulcer, Hematochezia, Intermittent diarrhea, Re... ORPHA:209964
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Immunodeficiency 46
Chronic oral candidiasis, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Anemia, C... OMIM:616740
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Gastroesophageal reflux, Diabetes mellitus, Cryptorchidism, Thrombocytopeni... OMIM:249270
Vexas Syndrome
Chondritis of pinna, Inflammatory abnormality of the skin, Elevated circulating C-reactive protei... OMIM:301054
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... ORPHA:54251
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia ORPHA:163596
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Ollier Disease
Chondrosarcoma, Neoplasm, Lymphangioma, Precocious puberty, Hemangioma, Multiple enchondromatosis... ORPHA:296
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia ORPHA:27
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glome... OMIM:304790
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Hyperammonemia, Diarrhea, Vomiting, Thrombocytosis, Hyperuricemia ORPHA:134
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma ORPHA:2760
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Skin rash, Gast... ORPHA:44890
Hypothyroidism, Congenital, Nongoitrous, 6
Constipation, Macroglossia, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, I... OMIM:614450
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
Familial Benign Copper Deficiency
Anemia, Decreased circulating copper concentration, Acne ORPHA:1551
Vipoma
Hepatomegaly, Benign gastrointestinal tract tumors, Adrenocortical adenoma, Increased circulating... ORPHA:97282
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Ileal Neuroendocrine Tumor
Increased serum serotonin, Extrahepatic cholestasis, Episodic vomiting, Iron deficiency anemia, I... ORPHA:100078
Jejunal Neuroendocrine Tumor
Increased serum serotonin, Extrahepatic cholestasis, Episodic vomiting, Iron deficiency anemia, I... ORPHA:100077
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... ORPHA:26793
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Eczema, Lymphoma, Myelodysplasia, Bone marrow hypocellularity, Refractor... OMIM:616871
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Diarrhea, Vomiting, Hepatic bridging fibrosis, Esophageal varix, Adren... OMIM:278000
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increased total bilir... OMIM:232800
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Erythrocytosis, Familial, 2
Elevated circulating erythropoietin concentration, Increased hematocrit, Hemangioma, Increased re... OMIM:263400
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Hemolytic anemia, Ileal ulcer, Thrombocytopenia OMIM:616744
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Lesch-Nyhan Syndrome
Anemia, Gout, Hyperuricemia ORPHA:510
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Thymoma
Neoplasm, Rheumatoid arthritis, Aplastic anemia, Non-Hodgkin lymphoma, Neoplasm of the gastrointe... ORPHA:99867
Amoebiasis Due To Entamoeba Histolytica
Anemia, Hypoalbuminemia, Leukocytosis ORPHA:67
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Anemia, Delayed puberty ORPHA:2598
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration, Seborrheic dermatitis OMIM:121270
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous ... ORPHA:83469
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B cell count, Dec... OMIM:212050
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypothyroidism, Hypertriglyceridemia, Protein-losing ... OMIM:618183
Wolman Disease
Adrenal insufficiency, Hepatomegaly, Splenomegaly, Steatorrhea, Adrenal calcification, Esophageal... ORPHA:75233
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Rh-Null, Regulator Type
Hemolytic anemia, Unconjugated hyperbilirubinemia, Stomatocytosis OMIM:268150
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Constipation, Anisopoikilocytosis, Vomiting, Macrocytic anemia... ORPHA:35858
Leukocyte Adhesion Deficiency
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... ORPHA:2968
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Diamond-Blackfan Anemia 1
High palate, Cleft palate, Congenital hypoplastic anemia, Thrombocytosis, Osteosarcoma, Myelodysp... OMIM:105650
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Lymphopenia, Otitis media, Eczema, Diarrhea, Absent microvilli on the surface of perip... OMIM:600903
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly ORPHA:1655
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Unconjugated hyperbil... OMIM:266200
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Hyperuricemia ORPHA:371
Cronkhite-Canada Syndrome
Neoplasm, Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Diarrhea, Furrowed tongue, I... ORPHA:2930
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Myelodysplasia, Thrombocytosis, Acute myeloid leukemia ORPHA:71493
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... OMIM:615550
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Eosinophilia, Hep... OMIM:607115
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia OMIM:250940
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Neonatal hyperbilir... OMIM:618892
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... OMIM:611881
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Bifid uvula, Microcytic anemia, Insulin-resistant diabetes mellitu... ORPHA:293967
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... ORPHA:309108
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Systemic Mastocytosis With Associated Hematologic Neoplasm
Multiple myeloma, Hepatomegaly, Neutrophilia, Diarrhea, Lymphadenopathy, Abnormal mast cell morph... ORPHA:98849
Transaldolase Deficiency