Gene Summary

F-box protein 10
FBX10,  LOC269529

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating calcium level Fbxo10tm1b(KOMP)Wtsi HOM Early adult 3.27×10-08
decreased circulating phosphate level Fbxo10tm1b(KOMP)Wtsi HOM Early adult 7.92×10-06
decreased mean corpuscular volume Fbxo10tm1b(KOMP)Wtsi HOM Early adult 1.76×10-12
hyperactivity Fbxo10em1(IMPC)J HOM Early adult 8.76×10-05
decreased hematocrit Fbxo10tm1b(KOMP)Wtsi HOM Early adult 5.21×10-06
decreased cardiac muscle contractility Fbxo10tm1b(KOMP)Wtsi HOM Early adult 5.49×10-09
decreased blood urea nitrogen level Fbxo10tm1b(KOMP)Wtsi HOM Early adult 1.20×10-11
decreased circulating triglyceride level Fbxo10tm1b(KOMP)Wtsi HOM Early adult 6.87×10-13
decreased neutrophil cell number Fbxo10tm1b(KOMP)Wtsi HOM Early adult 2.89×10-05
decreased circulating glucose level Fbxo10tm1b(KOMP)Wtsi HOM Early adult 8.44×10-05
decreased mean corpuscular hemoglobin Fbxo10tm1b(KOMP)Wtsi HOM Early adult 5.20×10-13

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Forepaw

10 Images

Combined SHIRPA and Dysmorphology


1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Fbxo10 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fbxo10 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly OMIM:602079
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia,... OMIM:612526
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:603552
Refractory Anemia
Abnormal cardiac ventricular function, Macrocytic anemia, Normocytic anemia, Neutropenia, Normoch... ORPHA:98826
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Cardiomyopathy, Incre... OMIM:604250
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia ORPHA:94090
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia, Arrhythmia OMIM:616949
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Hypophosphatemia, ... ORPHA:398063
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess, Hypophosphatemia, Hypocalcemia ORPHA:89937
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic... ORPHA:90044
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Thrombocytopenia 5
Anemia, Thrombocytopenia, Epistaxis, Neutropenia OMIM:616216
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia OMIM:598500
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... OMIM:616689
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia OMIM:617243
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
2P21 Microdeletion Syndrome
Hypoglycemia, Hypocalcemia ORPHA:163693
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Colchicine Poisoning
Myocarditis, Leukocytosis, Hyponatremia, Hypokalemia, Hypophosphatemia, Cardiogenic shock, Hypoma... ORPHA:31824
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Melena, Anis... ORPHA:98870
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... ORPHA:158057
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Timothy Syndrome
Hypoglycemia, Prolonged QT interval, Bradycardia, Hypocalcemia OMIM:601005
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
X-Linked Agammaglobulinemia
Neutropenia, Recurrent cutaneous abscess formation, Anemia, Hypocalcemia, Thrombocytopenia ORPHA:47
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Prolonged QT interval, Ventricular arrhythmia, Hypocalcemic seizures, Hypoca... ORPHA:36913
Albers-Schönberg Osteopetrosis
Anemia, Abnormal leukocyte morphology, Hypocalcemia ORPHA:53
Fanconi Renotubular Syndrome 5
Hypertension, Hypophosphatemia, Glycosuria, Hypophosphatemic rickets OMIM:618913
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Anemia, Cardiomyopathy, Hyperammonemia, Splenomegaly, Thrombocytopenia ORPHA:79312
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anemia, Hypomagnesemia, Hypocalcemia, Hematochezia OMIM:175500
Osteopetrosis, Autosomal Recessive 5
Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Extramedullary hematopoiesi... OMIM:259720
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Neutropenia, Congestive heart failure, Granu... OMIM:302060
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia, Hyperuricemia OMIM:617056
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Rhabdoid Tumor
Hypercalcemia, Hypertension, Anemia, Thrombocytopenia, Internal hemorrhage ORPHA:69077
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Anemia, Hypocalcemia OMIM:244460
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Blue Diaper Syndrome
Recurrent hypoglycemia, Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia ORPHA:94086
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:158061
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia, Hyperammonemia ORPHA:289916
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Elevated circulating creatine kinase concentration, Microcytic anemia, Neutropenia OMIM:251900
Hypertrophic cardiomyopathy, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Spleno... ORPHA:848
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Calcinosis, Anemia, Hypophosphatemia, Splenomegaly OMIM:239200
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Glycosuria OMIM:613388
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Impaired glucose tolerance, Hypophosphatemia, Glycosuria, Hypertriglyceride... ORPHA:2088
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T cells, Decrea... ORPHA:90362
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Retinal hemorr... ORPHA:88
Neutropenia, Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thrombocytopenia ORPHA:238459
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Necrotizing Enterocolitis
Shock, Leukocytosis, Hyponatremia, Neutropenia, Hyperglycemia, Abnormal glucose homeostasis, Brad... ORPHA:391673
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... OMIM:133100
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Propionic Acidemia
Neutropenia, Hypoglycemia, Anemia, Cardiomyopathy, Hyperglycinemia, Hyperammonemia, Pancytopenia,... OMIM:606054
Neonatal Lupus Erythematosus
Hemolytic anemia, Dilated cardiomyopathy, Neutropenia, Prolonged QT interval, Atrioventricular bl... ORPHA:398124
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Pulmonary arterial hypertension, Anemia... OMIM:614857
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Hypocalcemia OMIM:606407
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Prolonged QT interval, Hypoketotic hypoglycemia, Elevate... ORPHA:26793
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Osteopetrosis, Autosomal Recessive 1
Anemia, Splenomegaly, Hypocalcemia, Pancytopenia, Thrombocytopenia OMIM:259700
Griscelli Syndrome Type 2
Neutropenia, Hyperlipidemia, Splenomegaly, Pancytopenia, Hemophagocytosis ORPHA:79477
Neuroleptic Malignant Syndrome
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypertension, Hypernatremia, Elevated c... ORPHA:94093
Immunodeficiency 55
Neutropenia OMIM:617827
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Glycosuria OMIM:308990
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia ORPHA:94089
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Glycosuria, Hypokalemia OMIM:134600
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Neutropenia, Leukopenia, Anemia, Cardiomyopathy, Hyperammonemia, Abnor... ORPHA:292
Folate Malabsorption, Hereditary
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia OMIM:229050
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Bradycardia OMIM:617248
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Anemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Steatorrhea, Neutropenia OMIM:618752
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Vasculitis, Pancytopenia, Thrombocytopenia, Aplastic an... OMIM:308240
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Bacterial Toxic-Shock Syndrome
Myocarditis, Shock, Increased circulating myelocyte count, Elevated circulating creatine kinase c... ORPHA:36234
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Specific Granule Deficiency 2
Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules OMIM:617475
Pearson Syndrome
Neutropenia, Hypokalemia, Cardiac conduction abnormality, Anemia, Hypophosphatemia, Cardiomyopath... ORPHA:699
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Oculogyric crisis, Bradykinesia, Broad-based gait, Attention deficit hyperactivity diso... OMIM:617384
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Intermittent thrombocytopenia, S... OMIM:150550
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Portal hypertension, Hypophosphatemia, Type I diabetes mellitus, Hypokalemia ORPHA:213
Hypercalcemia, Anemia ORPHA:436
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir... ORPHA:37042
Hypercalcemia ORPHA:55881
Familial Isolated Hypoparathyroidism
Arrhythmia, Hypocalcemia ORPHA:2238
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Anemia of inadequate production OMIM:614900
Gitelman Syndrome
Prominent U wave, Syncope, ST segment depression, Raynaud phenomenon, Type I diabetes mellitus, T... ORPHA:358
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Steatorrhea, Type I diabetes mellitus,... OMIM:212750
Whim Syndrome 1
Neutropenia OMIM:193670
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Mitral regurgitation, Cardiomyopathy, Tricuspid regurgitation, Congesti... ORPHA:746
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... ORPHA:2169
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Type I diabet... OMIM:304790
Hyponatremia, Hypovolemic shock, Hypoglycemia, Hypokalemia, Tachycardia, Hypocalcemia, Hypotensio... ORPHA:173
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia, Anemia, Decreased circulating c... OMIM:618838
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... ORPHA:158048
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia ORPHA:99845
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Methylmalonic Aciduria, Cblb Type
Neutropenia, Methylmalonic acidemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Throm... OMIM:251110
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia,... OMIM:145600
Poikiloderma With Neutropenia
Elevated circulating creatine kinase concentration, Neutropenia, Splenomegaly OMIM:604173
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Oculocerebrodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia OMIM:227810
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Mitral regurgitation, Hypoplasia of the thymus, Pulmonary a... OMIM:612541
Retinal Venous Beading
Retinal neovascularization, Vitreous hemorrhage, Neutropenia OMIM:180080
Hb Bart'S Hydrops Fetalis
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure ORPHA:163596
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Aortic regurgitation, Pulmonary hemorrhage, Thrombocytopenia, Macrothrombocytopenia OMIM:603585
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia i... OMIM:619220
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Autoim... ORPHA:572
Methylmalonic Aciduria, Cbla Type
Neutropenia, Methylmalonic acidemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Throm... OMIM:251100
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Oculoskeletodental Syndrome
Hypercalcemia, Lacunar stroke, Hypocalcemia, Splenomegaly OMIM:618440
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Hyponatremia, Hypercalcemia, Normocytic anemia, Hypoglycemia, Orthostatic hypo... ORPHA:199299
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia, Hematochezia OMIM:618183
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:540
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased red blood cell mass, Increased hematocrit, Hypotension, Increased ... OMIM:263400
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... ORPHA:1667
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Hypertension, Neutropenia, Anemia, Cerebral ischemia, Transient ische... OMIM:242900
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Megaloblastic anemia,... OMIM:277380
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Hypertension, Neutropenia, Hyperlipidemia, Pulmonary a... ORPHA:1830
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepatic iron conce... ORPHA:231222
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemogl... OMIM:612561
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Evans Syndrome
Syncope, Neutropenia in presence of anti-neutropil antibodies, Epistaxis, Autoimmune thrombocytop... ORPHA:1959
Morm Syndrome
Hyperactivity ORPHA:75858
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia, Hypocalcemia OMIM:602361
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hypocalcemic tetany, Hypomagnesemia, Congestive heart failure, Hyperaldos... ORPHA:73224
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Leukocytosis, Hyponatremia, Myocarditis, Hypertension, Brain abscess, Hypertensive ... ORPHA:544482
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Cardiomyopathy, Decreas... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, An... OMIM:618835
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Hereditary Fructose Intolerance
Hypermagnesemia, Reactive hypoglycemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen, Hypertension ORPHA:251004
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Lichtenstein Syndrome
Neutropenia OMIM:246550
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Epistaxis, Anemia, Pancytopenia, Thrombocytopenia, Diffuse... ORPHA:520
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypomagnesemia, Congestive heart failure, Hypocalcemia, Arrhythmia, Hypotension ORPHA:428
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... OMIM:601775
Gaisböck Syndrome
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Increased red blood cell count... ORPHA:90041
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Hypoglycemia, Orthostatic hypotensi... ORPHA:95409
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Glycogen Storage Disease Ib
Hypertension, Neutropenia, Hypoglycemia, Hyperlipidemia, Hyperuricemia, Xanthelasma OMIM:232220
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL c... OMIM:618620
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volume... OMIM:277410
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Abnormal circulating threonine concentration, Hypoargininemia, Abnormal circulating... ORPHA:79096
Hypophosphatasia, Infantile
Hypercalcemia, Intracranial hemorrhage, Anemia, Elevated plasma pyrophosphate OMIM:241500
Felty Syndrome
Neutropenia, Pericarditis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thrombocytopenia ORPHA:47612
Hypercalcemia, Acute leukemia, Chronic leukemia, Telangiectasia of the skin, Splenomegaly, Gastro... ORPHA:98292
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Abnormal T-wave, Prolonged QT interval, Elevated circulating creatine kinase concen... ORPHA:466650
Double Outlet Right Ventricle
Heart murmur, Tachycardia, Pulmonic stenosis, Hypocalcemia ORPHA:3426
Thyrotoxic Periodic Paralysis
Hyperkalemia, Prolonged QT interval, Episodic hypokalemia, Palpitations, Mildly elevated creatine... ORPHA:79102
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Noncompaction cardiomyopathy, Leukopenia, Anemia, Tricuspid regur... ORPHA:508542
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, A... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, A... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, A... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, A... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, A... OMIM:612926
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Neutropenia, Leukopenia, Anemia, Splenomegaly, Congestive heart fail... OMIM:617303
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hyperhomocystinemia, Neutropenia, Megaloblastic anemia, Intraventricular hemorrhage, Elevated cir... ORPHA:79284
Mccune-Albright Syndrome
Pancytopenia, Primary hypercortisolism, Increased circulating cortisol level, Hypophosphatemia ORPHA:562
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:275350
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Hyponatremia, Hypoproteinemia, Neutropenia, Thrombocytop... ORPHA:167
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Steatorrhea, Pancytopen... OMIM:260400
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia, Splenomegaly OMIM:235255
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Intracranial hemorrhage, Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia, Heart murmur ORPHA:163979
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Hypokalemia, Hypophosphatemia, Glycosuria, Hyperuricosuria, Decreased... ORPHA:3337
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia, Cardiomyopathy, Neonatal hypoglycemia ORPHA:445038
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Propionic Acidemia
Hypoglycemia, Arrhythmia, Cardiomyopathy, Hyperammonemia ORPHA:35
Non-Functioning Paraganglioma
Cerebral hemorrhage, Hypercalcemia, Palpitations, Congestive heart failure, Hypertension associat... ORPHA:94080
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Epistaxis, Anemia, Incre... ORPHA:91547
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Elevated circulating creatine kinase concentration, Pulmonary arterial hypertension, ... ORPHA:2785
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Congestive heart failure,... OMIM:171420
Cartilage-Hair Hypoplasia
Neutropenia, Anemia, Cardiomyopathy, Heart block, Hypocalcemia ORPHA:175
Hepatocellular Carcinoma
Thrombocytosis, Hyponatremia, Hypercalcemia, Hypoglycemia, Type II diabetes mellitus, Hypokalemia... ORPHA:88673
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Ethylene Glycol Poisoning
Hyperkalemia, Hypertension, Shock, Prolonged QT interval, Atrial fibrillation, Tachycardia, Conge... ORPHA:31826
Tempi Syndrome
Polycythemia, Telangiectasia, Intracranial hemorrhage, Increased hematocrit ORPHA:284227
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Anemia, Hypophosphatemia, Splenomegaly, Hypocalcemia ORPHA:667
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Persisten... ORPHA:231226
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Hypocalcemia, Hype... ORPHA:79444
Hyperactivity ORPHA:2157
Dent Disease 1
Hypophosphatemia, Glycosuria OMIM:300009
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Anemia, Tachycardia, Bradycardia, Splenomegaly, Thrombocytopenia, Elev... ORPHA:90051
Fibrous Dysplasia Of Bone
Hypercalcemia, Increased circulating cortisol level, Hypophosphatemia, Diabetes mellitus ORPHA:249
Beta-Thalassemia Major
Dilated cardiomyopathy, Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcy... ORPHA:231214
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine... OMIM:613179
Fructose Intolerance, Hereditary
Hypoglycemia, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Hyperuricemia, Hyperuricosuria, G... OMIM:229600
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Neutropenia in presence of anti-neutropil antibodies, Achalasia, Hepatosplenomegaly, Autoimmune t... OMIM:615952
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Splenomegaly ORPHA:664
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Dopamine Beta-Hydroxylase Deficiency
Syncope, Hypoglycemia, Insulin resistance, Orthostatic hypotension, Orthostatic syncope, Elevated... ORPHA:230
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatosplenomegaly, Hypocalcemia, Splenomegaly ORPHA:1655
Addison Disease
Hyperkalemia, Hyponatremia, Hypercalcemia, Normocytic anemia, Hypoglycemia, Orthostatic hypotensi... ORPHA:85138
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidem... ORPHA:79282
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Sp... OMIM:614700
Alport Syndrome 3, Autosomal Dominant
Hypertension, Azotemia, Hypophosphatemia OMIM:104200
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... ORPHA:2686
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Wiskott-Aldrich Syndrome
Internal hemorrhage, Intracranial hemorrhage, Neutropenia, Acute leukemia, Hypoplasia of the thym... ORPHA:906
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypoglycemia, Anemia, Hypocalcemia, Pancytopeni... OMIM:613658
Pseudohypoparathyroidism Type 1A
Hypertension, Calcinosis, Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Hypo... ORPHA:79443
Hypophosphatemia OMIM:258480
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Schistocytosis, Microangiopathic hemolytic anemia, Hyperlipidemia, Elevated circula... OMIM:235400
Cohen Syndrome
Neutropenia, Leukopenia OMIM:216550
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver... ORPHA:54251
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Neutropenia, Arrhythmia, Hyperalaninemia OMIM:615471
Acquired Methemoglobinemia
Syncope, Palpitations, Methemoglobinemia, Tachycardia, Arrhythmia ORPHA:464453
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... OMIM:607594
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Infantile Nephropathic Cystinosis
Hypophosphatemia, Glycosuria, Hypokalemia, Abnormal blood ion concentration ORPHA:411629
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Me... OMIM:277400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hypertension, Hypoglycemia, Hyperlipidemia, Abnormal myeloid leukocyte morph... ORPHA:79259
Immunodeficiency 23
Neutropenia, Abscess, Vasculitis in the skin, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Steatorrhea, Neutropenia OMIM:617941
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Leukocytosis, Hypertension, Intracranial hemorrhage, Shock, Palpitations, Subconjun... ORPHA:340
Fanconi Anemia, Complementation Group E
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:600901
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Hypercalcemia, Infantile, 1
Aortic valve stenosis, Infantile hypercalcemia, Pulmonic stenosis OMIM:143880
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Neutropenia, Splenomegaly OMIM:308230
Congenital Isolated Acth Deficiency
Hyponatremia, Neonatal hypoglycemia, Hypoglycemic seizures, Hypotension, Decreased circulating co... ORPHA:199296
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227650
Eosinophilia, Intracranial hemorrhage, Neutropenia ORPHA:1163
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia, Splenomegaly OMIM:613027
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia OMIM:608809
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia, Shortened QT interval ORPHA:99880
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Neutropenia, Aortic regurgitation, Anemia, Tricuspid regurgitation, Acute myeloid leukemia, Steat... OMIM:601347
Neonatal Alloimmune Neutropenia
Maternal diabetes, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia, Shortened QT interval ORPHA:143
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Anemia, Hypophosphatemia, Hypercholesterolemia, Hyperaldosteronism, Th... ORPHA:534
Raine Syndrome
Hypophosphatemia OMIM:259775
Visceral Steatosis, Congenital
Hypoglycemia, Hypocalcemia OMIM:228100
Leigh Syndrome
Hypertrophic cardiomyopathy, Neutropenia, Hypoglycemia, Anemia, Hyperalaninemia, Congestive heart... ORPHA:506
Thymic Aplasia
Hypocalcemic tetany, Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Apl... ORPHA:83471
Hermansky-Pudlak Syndrome 2
Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu... OMIM:608233
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypoglycemia, Glucose intole... ORPHA:552
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Hypoglycemia, Sudden cardiac death, Transient hyperlipidemia, Arrhyt... ORPHA:156
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Syncope, Normocytic anemia, Normochromic anemia, Chroni... ORPHA:98849
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachyc... ORPHA:423
Hypercalcemia, Hypochromic microcytic anemia, Increased circulating cortisol level, Gastrointesti... ORPHA:97283
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Neutropenia OMIM:618005
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Elevated c... OMIM:619644
Hypercalcemia, Acanthocytosis, Increased circulating cortisol level, Normochromic anemia, Gastroi... ORPHA:97280
Hyperphosphatemia ORPHA:280062
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Fanconi Anemia, Complementation Group C
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227645
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:614736
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Acute leukemia, Splenomegaly, Myeloproliferative disorder,... ORPHA:3226
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Gand Syndrome
Hyperactivity OMIM:615074
Mirage Syndrome
Hyperkalemia, Hyponatremia, Intracranial hemorrhage, Hypoglycemia, Leukopenia, Anemia, Achalasia,... OMIM:617053
Rothmund-Thomson Syndrome
Calcinosis, Neutropenia, Leukemia, Anemia, Telangiectasia of the skin, Aplastic anemia ORPHA:2909
Staphylococcal Necrotizing Pneumonia
Shock, Leukocytosis, Leukopenia, Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive... ORPHA:36238
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Herpes Simplex Virus Encephalitis
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia ORPHA:1930
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Hypercalcemia, Palpitations, Congestive heart failure, Hypertension associat... ORPHA:276621