Gene Summary

tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
mTNKS1,  tankyrase 1,  TANK1,  4930554K12Rik,  D130072O21Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Tnksem1(IMPC)Hmgu HOM Early adult 3.02×10-05
increased mean corpuscular volume Tnksem1(IMPC)Hmgu HOM Early adult 8.27×10-10
increased fasting circulating glucose level Tnksem1(IMPC)Hmgu HOM Early adult 1.15×10-08
decreased total body fat amount Tnksem1(IMPC)Hmgu HOM   Early adult 1.87×10-05
increased circulating bilirubin level Tnksem1(IMPC)Hmgu HOM Early adult 4.69×10-08
increased mean platelet volume Tnksem1(IMPC)Hmgu HOM Early adult 3.14×10-06
increased circulating aspartate transaminase level Tnksem1(IMPC)Hmgu HOM Early adult 4.37×10-06
decreased total retina thickness Tnksem1(IMPC)Hmgu HOM Early adult 1.94×10-05
increased heart weight Tnksem1(IMPC)Hmgu HOM   Early adult 8.37×10-05
decreased bone mineral content Tnksem1(IMPC)Hmgu HOM Early adult 2.87×10-05
decreased circulating triglyceride level Tnksem1(IMPC)Hmgu HOM   Early adult 1.96×10-05
abnormal retina morphology Tnksem1(IMPC)Hmgu HOM Early adult 6.52×10-07
decreased circulating glucose level Tnksem1(IMPC)Hmgu HOM Early adult 9.67×10-06
hydrocephaly Tnksem1(IMPC)Hmgu HOM Early adult 0.00
decreased bone mineral density Tnksem1(IMPC)Hmgu HOM   Early adult 6.66×10-06
decreased grip strength Tnksem1(IMPC)Hmgu HOM Early adult 0.00
increased circulating alkaline phosphatase level Tnksem1(IMPC)Hmgu HOM Early adult 1.35×10-08
decreased circulating cholesterol level Tnksem1(IMPC)Hmgu HOM Early adult 1.88×10-06
thrombocytopenia Tnksem1(IMPC)Hmgu HOM Early adult 1.86×10-10
increased red blood cell distribution width Tnksem1(IMPC)Hmgu HOM Early adult 8.22×10-09
decreased circulating HDL cholesterol level Tnksem1(IMPC)Hmgu HOM Early adult 1.73×10-06
abnormal gait Tnksem1(IMPC)Hmgu HOM   Early adult 5.26×10-05
decreased erythrocyte cell number Tnksem1(IMPC)Hmgu HOM   Early adult 7.24×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Tnks 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 Tnks by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... OMIM:610021
Anemia, Hyperbilirubinemia, Thrombocytopenia, Gait imbalance, Elevated circulating C-reactive pro... ORPHA:673
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Increased adipose ... ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Hyperinsulinemic hypoglycem... ORPHA:263458
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Type II diabetes mellitus, Hypoketotic hypoglyc... ORPHA:79299
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hepatomegaly, Osteopenia, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splenomegaly OMIM:610539
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Maternal diabetes, Neonatal hypoglycemia, Fasting hypoglycemia, Excessive insulin res... ORPHA:324575
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... OMIM:205950
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Osteoporosis, Persistence of... ORPHA:232
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatom... OMIM:616860
Plin1-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Hyperinsulinemia, Hypertriglyceridemia,... ORPHA:280356
Short Stature Due To Ghsr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314811
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone ... ORPHA:71526
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Hypoglycemia, Decreased serum insulin-like grow... OMIM:262400
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hypertriglyceridemia, Hyperlipidemia, Decreased serum leptin, Insulin resistance, ... ORPHA:79085
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperlipidemia, Hyperglycemia, Hyperinsulinemia ORPHA:329249
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased m... OMIM:261000
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... OMIM:616689
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycem... ORPHA:411593
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Increased... OMIM:617885
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Maternal diabetes, Fasting hypoglycemia, Excessive insulin response to glucagon test,... ORPHA:276580
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... ORPHA:3202
Hyperinsulinemic Hypoglycemia, Familial, 8
Attention deficit hyperactivity disorder, Hyperinsulinemia, Hypoglycemic seizures, Elevated circu... OMIM:620211
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the n... ORPHA:435660
Sitosterolemia 1
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... OMIM:210250
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Attention deficit hyperactivity disorder, Reactive hypoglycemia, Hyperi... ORPHA:35878
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Hyperbilirubinemia, Erythroid hyp... OMIM:237800
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Abnormal circulating insulin concentration, Elevated circulating thyroid-st... ORPHA:171706
Hyperglycemia, Hyperinsulinemia OMIM:616214
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hypertriglyceridemia, Hyperlipidemia,... ORPHA:435651
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Hypertriglyceridemia, Decreased serum leptin, Diabetic ketoacidosis, Decreased adi... OMIM:615238
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Fasting hypoglycemia, Excessive insulin response to glucagon test, Agitation, Hyperin... ORPHA:276575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Agitation, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia, Hyperi... ORPHA:276608
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Increased CSF protein concentration, Acute lymphobl... ORPHA:158057
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Abnormal macular morphology, Bone-marrow foam cells, Ane... OMIM:607616
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Hemolytic anemia, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatospl... OMIM:613673
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Osteoporosis, Macrocytic anemia, Failure to thrive, Increased mean corpuscular vol... ORPHA:2169
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentratio... OMIM:619868
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia OMIM:618406
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Excessive insulin response to glucagon test, Agitation, Recurrent hypoglycemia, React... ORPHA:276556
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Extramedullary hematopoiesis, Anemia, Ventricular septal defect, Incre... OMIM:617021
Bleeding Disorder, Platelet-Type, 24
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... OMIM:619271
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia OMIM:620195
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased total iron binding capacity, Inc... ORPHA:98870
Hypobetalipoproteinemia, Familial, 1
Ataxia, Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Retinal degeneratio... OMIM:615558
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Insulinoma, Type II diabetes ... OMIM:147630
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Anemia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia... OMIM:262700
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperinsulinemia, ... OMIM:604367
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Lipoatrophy ORPHA:79084
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Ataxia, Hepatomegaly, Increased mean corpuscular volume, Decreased CSF 5-me... OMIM:613839
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hydrocephalus, Hepatomegaly, Conjugated hyperbilirubinemia, Failure to th... OMIM:269920
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Hydrocephalus, Failure to thrive OMIM:129850
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Reticulocytosis, Splenomegaly OMIM:179700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, I... OMIM:267700
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concen... OMIM:620010
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Type I diabetes mellitus, Pancytopenia, T-cell acute lymphobla... OMIM:620044
Maternal Uniparental Disomy Of Chromosome 4
Ataxia, Abnormal erythrocyte morphology, Decreased LDL cholesterol concentration, Pigmentary reti... ORPHA:96180
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypertrigl... ORPHA:66628
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair... OMIM:155100
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Osteopenia OMIM:619256
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Ataxia, Steatorrhea, Osteoporosis, Hepatomegaly... OMIM:266510
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification, Abnormal cardiac sep... ORPHA:3319
Type 1 Diabetes Mellitus
Polyphagia, Diabetes mellitus, Polydipsia, Hyperglycemia OMIM:222100
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Small for gestational age, Reticulocytosis, Hemolytic anemia, Hepatomeg... OMIM:224120
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Elliptocytosis, Retinal atrophy, Anemia, Epiretinal membrane, Decreased mean corpus... OMIM:616959
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypertrigl... ORPHA:179494
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypog... ORPHA:293964
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Attention deficit hyperactivity disorder, Hyperinsulinemia ORPHA:369873
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Diamond-Blackfan Anemia 6
Tracheomalacia, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Persistence... OMIM:612561
Polyphagia, Pituitary prolactin cell adenoma, Fasting hyperinsulinemia, Recurrent hypoglycemia, A... ORPHA:97279
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, Erythroid h... OMIM:615631
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Dorsocervical fat pad, Diabetes mellitus, Delayed thelarche, Hyperinsulinemic hy... OMIM:616033
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... ORPHA:67044
Leptin Deficiency Or Dysfunction
Polyphagia, Decreased serum leptin, Hypogonadism OMIM:614962
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia OMIM:232700
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubi... OMIM:185000
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Ataxia, Decreased hemoglobin concentration, Hyperbilirubinemia... ORPHA:713
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Amelogenesis imperfecta, Hepatomegaly, Elevated circulating creatine kinase concent... OMIM:614727
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis, Elevated circulating hepcidin concen... OMIM:206200
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Increased circula... OMIM:603552
Shwachman-Diamond Syndrome
Diabetes mellitus, Hepatomegaly, Macrocytic anemia, Abnormal heart morphology, Acute myeloid leuk... ORPHA:811
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation, Thrombo... OMIM:231200
Steppage gait, Hepatomegaly, Abnormal circulating apolipoprotein concentration, Rod-cone dystroph... ORPHA:14
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Ventricular septal defect, Abnormality of neutrophils, Umb... OMIM:169400
Bone Marrow Failure Syndrome 3
Retinal dystrophy, Reduced bone mineral density, Aplastic anemia, Anemia, Persistence of hemoglob... OMIM:617052
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, Abnormality of neut... ORPHA:86841
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Osteopenia, Increased mean corpuscular volume, ... OMIM:618849
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Hydrocephalus OMIM:209970
Intermediate Osteopetrosis
Hepatosplenomegaly, Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormal... ORPHA:210110
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Heinz bodies, Leukocytosis, Reticulocytosis, Un... OMIM:300908
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Increased CSF protein ... OMIM:603553
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platele... ORPHA:182050
Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis, Neutropenia ORPHA:238459
Growth Hormone Insensitivity Syndrome
Hypogonadism, Diabetes mellitus, Diabetes insipidus, Type II diabetes mellitus, Insulin resistanc... ORPHA:181393
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Generalized lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue... ORPHA:363400
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Methylmalonic acidemia, Spastic ataxia, Increased mean corpuscular volume, ... OMIM:277410
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... OMIM:262190
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Leukocytosis, Abnormal mean corpuscular volume, Anemia of inadequate producti... ORPHA:86839
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Increased bone mineral density, Leukocytosis, Extramedullary hematopoiesis, A... OMIM:259720
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration, Hepatomegaly OMIM:619874
Congenital Toxoplasmosis
Anemia, Hydrocephalus, Failure to thrive in infancy, Hepatomegaly, Ventriculomegaly, Abnormality ... ORPHA:858
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hydrocephalus OMIM:166990
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Ataxia, Cone/cone-rod dystrophy, Ventricular septal defect, Atrial septal... OMIM:249270
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Increased mean platelet volume, Impaired ADP-ind... OMIM:617443
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Amegakaryocytic thrombocytopenia ORPHA:71289
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Loss of ambulation, Hepatomegaly, Increased CSF interferon alpha, CSF pleocytos... OMIM:615010
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... OMIM:300946
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Rickets, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume... OMIM:611590
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatome... OMIM:615234
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Takenouchi-Kosaki Syndrome
Camptodactyly, Inguinal hernia, Pulmonic stenosis, Ataxia, Abnormal cardiac septum morphology, Ve... OMIM:616737
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Iron deficiency anemia... OMIM:616278
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblasti... OMIM:601775
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Dandy-Walker malformation, Orbital craniosynostosis, Hydrocephalus ORPHA:1538
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, Lipoatrophy, H... ORPHA:2457
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Increased circulating ferritin concentration, Ne... OMIM:618892
Hepatosplenomegaly, Anisopoikilocytosis, Pathologic fracture, Myelomeningocele, Osteoporosis, Aca... OMIM:607330
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Diabetes mellitus, Decreased mean... ORPHA:231226
Rh Deficiency Syndrome
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, H... ORPHA:71275
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased c... OMIM:613101
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Hepatomegaly, Conjugated hyperbilirubinemia, Failure to thrive, Hypocholest... OMIM:607765
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia, Decreased body weight OMIM:613606
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... ORPHA:247598
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Hepatomegaly, Ventriculomegaly ORPHA:1980
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Reduced bone mineral density, Leukocytosis, Extramedullary hematopoiesis, Dia... ORPHA:231222
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Camptodactyly, Hepatomegaly, Failure to thrive, Increased CSF lactate, Flexion cont... OMIM:604273
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Chylomicron Retention Disease
Steatorrhea, Acanthocytosis, Failure to thrive, Hypertriglyceridemia, Retinopathy, Hypocholestero... ORPHA:71
Leptin Receptor Deficiency
Polyphagia, Abnormal eating behavior, Delayed puberty, Diabetes mellitus, Decreased response to g... OMIM:614963
Increased CSF protein concentration, Episodic ataxia, Difficulty walking, Hydrocephalus ORPHA:251912
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Anemia, Hydrocephalus, Hep... OMIM:259700
Hereditary Spherocytosis
Reticulocytosis, Gout, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin concen... ORPHA:822
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Anemia, Decreased CSF homovanillic acid concentration, Failure to thrive, Hypoglyc... OMIM:610090
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... OMIM:246700
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Adipose tissue loss, Hyperinsulinemi... OMIM:151660
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Decreased mean corpuscular volume, Hypochromia, Increased serum iron, Erythroid hyperplas... OMIM:206100
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Ataxia, Steatorrhea, Cardiomyopathy, Hepatomegaly, Osteopenia, Failure to thrive, A... OMIM:212065
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Anemia, Choreoathetosis, Cardiomyopathy, Hepatomegaly, Failure to thrive, Thrombo... ORPHA:79312
Congenital Disorder Of Glycosylation, Type Iid
Dandy-Walker malformation, Elevated circulating creatine kinase concentration, Hydrocephalus OMIM:607091
Wolcott-Rallison Syndrome
Hyperammonemia, Neonatal insulin-dependent diabetes mellitus, Difficulty walking, Atrial septal d... ORPHA:1667
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Reticulocytosis, Hyperkalemia, Increased mean corpuscular volume, Stom... ORPHA:90044
Congenital Disorder Of Glycosylation, Type Iig
Camptodactyly, Anemia, Left ventricular hypertrophy, Failure to thrive in infancy, Lateral ventri... OMIM:611209
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Glycogen Storage Disease Vii
Reticulocytosis, Hyperuricemia, Hemolytic anemia, Gout, Reduced erythrocyte 2,3-diphosphoglycerat... OMIM:232800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... OMIM:618278
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Hemolytic anemia, Stomatocytosis, Thrombocytope... OMIM:153670
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Osteoporosis, Macr... OMIM:612562
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Majeed Syndrome
Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequate production, Microcyti... OMIM:609628
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... OMIM:301083
Pituitary Hormone Deficiency, Combined, 2
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Abnormal circulating adr... OMIM:262600
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Failure to thrive, Thrombocytopenia, Osteopetrosis, Optic atrophy, Splenome... OMIM:615085
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Failure to thrive in infancy, Knee flexion contracture, ... OMIM:618156
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hyperammonemia, Leukopenia, Ataxia, Anemia, Cardiomyopathy, Hepatomegaly, Macrocytic anemia, Thro... ORPHA:27
Retinitis Pigmentosa
Hypogonadism, Type II diabetes mellitus, Atypical scarring of skin, Hyperinsulinemia ORPHA:791
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Graves Disease, Susceptibility To, 1
Polyphagia, Goiter, Graves disease, Hyperactivity, Increased circulating free T3, Decreased thyro... OMIM:275000
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventricular septal defect, Optic nerve hypoplasia, Ventriculomegaly, Increased mean... ORPHA:261250
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating tyrosine concentration, Hypoargininemia, Unsteady gait, Hypoglycemia, Abnorm... ORPHA:79096
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Reticulocytosis, Anemia, Optic disc pallor, Hepatomegaly, Thrombo... OMIM:611490
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hypothyroidism, Umbilical hernia, Hyperglycemia, Transient neonatal diabetes m... ORPHA:99886
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly ORPHA:231393
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Reduced haptoglobin level, Reticulocytosis, Hepatomegaly,... OMIM:266200
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Neonat... ORPHA:79644
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Extramedullary hematopoiesis, Steatorrhea, Hepatomegaly, Conjugated hyperbilirubinemia, ... ORPHA:79303
Spherocytosis, Type 2
Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, Splenomegaly OMIM:616649
Epilepsy, Pyridoxine-Dependent
Elevated circulating alpha-aminoadipic semialdehyde concentration, Hydrocephalus OMIM:266100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Hydrocephalus, Cardiomyopathy, Elevated circulating creatine kinase concentrat... OMIM:613155
Hereditary Elliptocytosis
Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Hyperbilirubi... ORPHA:288
Spherocytosis, Type 4
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly OMIM:612653
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Hydrocephalus, Anemia OMIM:619302
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Adrenal hypoplasia, Decreased circulating cortisol level, Decreased response to growt... OMIM:609734
Osteopetrosis, Autosomal Recessive 2
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Hydrocephalus, Th... OMIM:259710
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Normochromic anemia, Nonspherocytic hemol... OMIM:235700
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Ataxia-Pancytopenia Syndrome
Unsteady gait, Ataxia, Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomon... OMIM:159550
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Diabetes mellitus, Mini... ORPHA:280365
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Aplastic anemia, Anemia, Ataxia, Osteoporosis, Lymphopenia, Increased mean corpuscula... OMIM:127550
Camptodactyly, Abnormal adipose tissue morphology, Recurrent hypoglycemia, Retinal detachment, Bi... ORPHA:79324
Temple Syndrome
Polyphagia, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test, Type I... ORPHA:254516
Atypical Teratoid Rhabdoid Tumor
Ataxia, Limitation of joint mobility, Hydrocephalus ORPHA:99966
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Ventricular septal defect, Atrial septal defect, Diabetes mellitus, Thrombo... ORPHA:49827
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Anemia, Hepatomegaly, Thrombocytopenia, Optic atrophy, Choreoathetosis, Neutropenia ORPHA:289916
Trichohepatoenteric Syndrome 1
Small for gestational age, Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Hyp... OMIM:222470
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Hydrocephalus, Anemia, Osteoarthritis, Arthritis, Hypocalcemia, Osteo... ORPHA:53
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... ORPHA:3203
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Type II diabetes mellitus, Keloids, Hyperinsulinemia ORPHA:3085
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis, Hypermethioninemia, Elevated circulating creati... OMIM:614300
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Radioulnar synostosis ORPHA:2760
Reduced bone mineral density, Abnormal hemoglobin, Anemia, Hepatomegaly, Microcytic anemia, Throm... ORPHA:848
Pyruvate Carboxylase Deficiency
Decreased CSF glutamine concentration, Hyperalaninemia, Hepatomegaly, Ventriculomegaly, Hypernatr... ORPHA:3008
Spherocytosis, Type 1
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly OMIM:182900
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, H... OMIM:608600
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, CSF lymphocytic pleiocytosis, Thrombocytopenia OMIM:610329
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Atrial septal defect, B... ORPHA:101028
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Thrombocytopenia, Hypoglycemia, Failure to thrive ORPHA:67048
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Glycosuria, Agitation, Pancreatic islet-cell hyperpl... ORPHA:263455
Eosinophilia, Familial
Leukocytosis, Anemia, Myocardial eosinophilic infiltration, Eosinophilia, Thrombocytopenia OMIM:131400
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Generalized lipodystrophy, Hyperinsulinemia, Hyperg... OMIM:608612
Congenital Erythropoietic Porphyria
Anisocytosis, Reduced haptoglobin level, Osteolysis, Reticulocytosis, Leukopenia, Hemolytic anemi... ORPHA:79277
Hypermanganesemia With Dystonia 1
Polycythemia, Steppage gait, Hepatomegaly, Hypermanganesemia, Unconjugated hyperbilirubinemia, In... OMIM:613280
Bdv Syndrome
Delayed puberty, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreas... OMIM:619326
Propionic Acidemia
Hyperammonemia, Anemia, Cardiomyopathy, Osteoporosis, Hepatomegaly, Failure to thrive, Thrombocyt... OMIM:606054
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia, Hypoalbuminemia OMIM:615008
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Failure to thrive, Hyperbilir... OMIM:251880
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Anisopoikilocytosis, Anemia, Decreased mean corpuscular volume, Decreased tra... ORPHA:300298
Hepatic Veno-Occlusive Disease
Increased body weight, Hepatomegaly, Increased total bilirubin ORPHA:890
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Hepatoportal Sclerosis
Leukopenia, Anemia, Hyperbilirubinemia, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypoalbumi... ORPHA:64743
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Lipodystrophy, Hypercholesterolemia, Generalized lipodystrophy, Diabetes mell... OMIM:612526
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Hepatomegaly, Failure to thriv... OMIM:615285
Syndromic Diarrhea
Hypoplasia of the thymus, Small for gestational age, Inguinal hernia, Ventricular septal defect, ... ORPHA:84064
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... OMIM:619130
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Failure to thrive, Thrombocytopenia, Pancytopenia, Ele... OMIM:616050
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Fanconi-Bickel Syndrome
Rickets, Fasting hypoglycemia, Hypophosphatemia, Glycosuria, Hypouricemia, Postprandial hyperglyc... OMIM:227810
Methylmalonic Acidemia With Homocystinuria
Retinopathy, Gait disturbance, Hydrocephalus, Failure to thrive ORPHA:26
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati... ORPHA:91547
Folate Malabsorption, Hereditary
Leukopenia, Ataxia, Folate-responsive megaloblastic anemia, Failure to thrive, Athetosis, Thrombo... OMIM:229050
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Perlman Syndrome
Femoral hernia, Inguinal hernia, Hyperinsulinemia ORPHA:2849
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... OMIM:615962
Riboflavin Deficiency
Hypothermia, Hypoglycemia OMIM:615026
Cholestasis, Progressive Familial Intrahepatic, 1
Rickets, Hepatomegaly, Conjugated hyperbilirubinemia, Failure to thrive, Osteopenia, Splenomegaly OMIM:211600
Congenital Generalized Lipodystrophy
Lipodystrophy, Adipose tissue loss, Diabetes mellitus, Precocious puberty in females, Hyperinsuli... ORPHA:528
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Hydrocephalus, Hepatomegaly, Ventriculomegaly, CSF lymphocytic pleiocytosis, ... OMIM:610333
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration,... OMIM:618838
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Impaired plate... OMIM:300835
Glucocorticoid Deficiency 1
Increased circulating ACTH level, Abnormal circulating renin, Abnormal circulating aldosterone, R... OMIM:202200
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Atrial septal defect, Hydrocephalus, Elevated circulating long... OMIM:614886
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Diabetes mellitus, Sideroblastic anemia, Thrombocytopenia, Optic atrophy, N... OMIM:598500
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Hydrocephalus OMIM:618709
Lipoyltransferase 1 Deficiency
Ventriculomegaly, Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin OMIM:616299
Small for gestational age, Thrombocytopenia, Type I diabetes mellitus, Elevated circulating creat... ORPHA:275555
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin ORPHA:2924
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Small for gestational age, Anemia, Steatorrhea, Hepatomegaly, Re... OMIM:557000
Overlap Myositis
Abnormal circulating lipid concentration, Leukopenia, Difficulty walking, Diabetes mellitus, Abno... ORPHA:206572
Beta-Thalassemia Major
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Diabetes mellitus, Decreas... ORPHA:231214
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Splenomegaly OMIM:235555
Small for gestational age, Camptodactyly, Ataxia, Anemia, Abnormality of subcutaneous fat tissue,... ORPHA:79325
Donohue Syndrome
Fasting hypoglycemia, Adipose tissue loss, Postprandial hyperglycemia, Pancreatic islet-cell hype... OMIM:246200
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Ventricular septal defect, Atrial septal defect, Conjugated hyperbilir... OMIM:208085
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Cardiomyopathy, Ventriculomegaly, Athetosis, Thrombocytopenia, Optic atrophy, Rod-cone dy... OMIM:617710
Bangstad Syndrome
Primary gonadal insufficiency, Increased circulating cortisol level, Abnormality of the parathyro... ORPHA:1227
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Increased circulating ACTH level, Abnormal circulating renin, Abnormal circulating aldosterone, C... OMIM:614736
Developmental And Epileptic Encephalopathy 36
Flexion contracture, Optic atrophy, Hepatomegaly, Hydrocephalus OMIM:300884
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Osteoporosis, Truncal obesity, Failure to thrive, Insulin resistance, ... ORPHA:73272
Potocki-Lupski Syndrome
Small for gestational age, Atrial septal defect, Failure to thrive, Patent foramen ovale, Hypocho... OMIM:610883
Pituitary Hormone Deficiency, Combined, 6
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Decreased circulating fo... OMIM:613986
Estrogen Resistance
Delayed puberty, Impaired glucose tolerance, Increased circulating osteocalcin level, Increased s... OMIM:615363
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Elbow flexion contracture, Hydrocephalus OMIM:619470
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypoins... ORPHA:453533
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Failure to thrive, Thrombocytopenia... OMIM:226990
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Pancytopenia,... ORPHA:507
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis, Osteolysis involving bones of the lower limbs, Abnormal heart morphology, Hyperbiliru... ORPHA:464321
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Inability to walk, Hemolytic anemia, Ataxia, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperka... OMIM:608885
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... OMIM:613011
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Camptodactyly, Inguinal hernia, Total anomalous pulmonary venous return, Abnormal heart morpholog... ORPHA:487796
Glycogen Storage Disease Xii
Reduced haptoglobin level, Normocytic anemia, Anemia, Hepatomegaly, Elevated circulating creatine... OMIM:611881
Abnormal circulating insulin concentration, Neonatal hypoglycemia, Glycosuria, Abnormal oral gluc... ORPHA:552
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Hypoglycemia OMIM:610006
Galactokinase Deficiency
Hypoglycemia, Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:79237
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Juvenile rheumatoid arthritis, Hepatomegaly, Hypertriglyceridemia, Abno... ORPHA:158061
Bardet-Biedl Syndrome 22
Polyphagia, Hypogonadism OMIM:617119
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:611808
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperammonemia, Leukopenia, Methylmalonic acidemia, Cardiomyopathy, Hepatomegaly, Failure to thri... OMIM:251000
Orotic Aciduria
Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi... OMIM:258900
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Methylmalonic acidemia, Atrial septal defect, Failure to thrive, Thrombocytopeni... OMIM:614857
Temple Syndrome
Small for gestational age, Overweight, Hydrocephalus, Truncal obesity, Hypertriglyceridemia, Join... OMIM:616222
Bile Acid Conjugation Defect 1
Rickets, Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked
Hyperbilirubinemia, Gait disturbance OMIM:301094
Diamond-Blackfan Anemia
Small for gestational age, Leukopenia, Pure red cell aplasia, Ventricular septal defect, Atrial s... ORPHA:124
Congenital Rubella Syndrome
Ventricular septal defect, Anemia, Atrial septal defect, Hepatomegaly, Abnormality of retinal pig... ORPHA:290
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Weight loss ORPHA:517
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Hepatosplenomegaly, Ataxia, Failure to thrive in infancy, Thrombocytopenia, Hypercholesterolemia ORPHA:263501
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia, Anemia ORPHA:295
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hyperammonemia, Hypoglycemia, Decreased plasma free carnitine, Enlarged kidney, Knee flexion cont... OMIM:608836
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Mehmo Syndrome
Delayed puberty, Male hypogonadism, Decreased response to growth hormone stimulation test, Hypogl... OMIM:300148
Wilson Disease
Chondrocalcinosis, Hemolytic anemia, Anemia, Hypouricemia, Glycosuria, Osteoporosis, Hepatomegaly... OMIM:277900
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type ... OMIM:618858
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Anemia, Ataxia, Hyperproteinemia, Hepatomegaly, Hypertriglyceridemia, Abnormal ... ORPHA:158048
Fumarase Deficiency
Polycythemia, Perimembranous ventricular septal defect, Ventriculomegaly, Hyperbilirubinemia, Fai... OMIM:606812
Nasu-Hakola Disease
Reduced bone mineral density, Abnormal adipose tissue morphology, Hydrocephalus, Ventriculomegaly... ORPHA:2770
Tangier Disease
Hepatosplenomegaly, Anemia, Left ventricular hypertrophy, Coronary artery stenosis, Hypertriglyce... ORPHA:31150
Diamond-Blackfan Anemia 1
Ventricular septal defect, Atrial septal defect, Persistence of hemoglobin F, Reticulocytopenia, ... OMIM:105650
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Mandibuloacral Dysplasia With Type A Lipodystrophy
Camptodactyly, Lipodystrophy, Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hy... OMIM:248370
Fried Syndrome
Abnormal optic nerve morphology, Gait disturbance, Hydrocephalus ORPHA:85335
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Anemia, Hepatomegaly, Lymphopenia, Arthritis, Failure to thrive, Hypertriglyceride... OMIM:617591
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Enamel hypoplasia, ... OMIM:614576
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Glycogen Storage Disease Ixa1
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hypoglycemia OMIM:306000
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Graft Versus Host Disease
Hepatosplenomegaly, Lipodystrophy, Hemophagocytosis, Stiff interphalangeal joints, Limited should... ORPHA:39812
Post-Traumatic Pituitary Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Decreased circulating ACT... ORPHA:95619
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Gait disturbance, Hydrocephalus, Ventriculomegaly, Dilated cardiomyopath... ORPHA:272
Hepatocellular Carcinoma
Polycythemia, Anemia, Hepatomegaly, Hypokalemia, Hyperbilirubinemia, Weight loss, Thrombocytopeni... ORPHA:88673
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Thromb... ORPHA:231111
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cort... OMIM:600955
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hepatomegaly, Hypercalcemia, Anemia ORPHA:2123
X-Linked Acrogigantism
Polyphagia, Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, ... ORPHA:300373
Ataxia, Anemia, Diabetes mellitus, Retinal degeneration, Increased circulating ferritin concentra... OMIM:604290
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... ORPHA:98826
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia, Lipodystrophy, Diabetes mellitus, Umbilical hernia, Hyperinsulinemia, Reduced intraab... OMIM:608594
1Q21.1 Microduplication Syndrome
Arthrogryposis multiplex congenita, Tetralogy of Fallot, Hydrocephalus, Failure to thrive ORPHA:250994
Hypoadrenocorticism, Familial
Cyanosis, Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Osteoarthritis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increa... ORPHA:2298
Mevalonic Aciduria
Hepatosplenomegaly, Leukocytosis, Progressive cerebellar ataxia, Ataxia, Anemia, Normocytic hypop... OMIM:610377
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Griscelli Syndrome
Encephalocele, Abnormal circulating lipid concentration, Leukopenia, Ataxia, Hydrocephalus, Abnor... ORPHA:381
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis, Dandy-Walker malformation, Hydrocephalus OMIM:123155
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin ORPHA:90037
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Castleman Disease
Anemia, Decreased mean corpuscular volume, Restrictive cardiomyopathy, Thrombocytopenia, Elevated... ORPHA:160
Elliptocytosis 2
Neonatal hyperbilirubinemia, Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-p... OMIM:606176
Hsd10 Mitochondrial Disease
Hypoglycemia, Restlessness, Agitation OMIM:300438
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Hepatomegaly, Osteopenia, Failure to thrive, Hyperlipidemia, Hypertrophic cardiomyo... ORPHA:369
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Glycosuria, Ventricular septal defect, Hepatomegaly, Conjugated hyperbilirubinemia, Right ventric... OMIM:613404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Left ventricular hypertrophy, Retinal detachment, Elevated circulating creatine ki... OMIM:613153
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Neonatal hyperbilirubinemia ORPHA:95717
Wolfram Syndrome 1
Megaloblastic anemia, Ataxia, Diabetes mellitus, Pigmentary retinopathy, Cardiomyopathy, Siderobl... OMIM:222300
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyperuricemia, Anemia, Diabetes mellitus, Increased blood urea nitrogen, Failure to t... OMIM:613845
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism ORPHA:177910
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hyperammonemia, Elevated circulating fumarate concentration, Atrial se... OMIM:615160
Specific Granule Deficiency 2
Absent neutrophil specific granules, Anemia, Amelogenesis imperfecta, Osteopenia, Failure to thri... OMIM:617475
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Pancytopenia,... OMIM:308240
Acyl-Coa Dehydrogenase 9 Deficiency
Hyperammonemia, Elevated circulating acylcarnitine concentration, Nonketotic hypoglycemia, Failur... ORPHA:99901
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Increased LDL cholesterol concentration, Leukopenia, Hypercholesterolemia, Bo... OMIM:278000
Wt Limb-Blood Syndrome
Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, Thrombocytopenia, Radioulnar s... OMIM:194350
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia OMIM:141000
Zika Virus Disease
Abnormal optic disc morphology, Macular atrophy, Optic disc hypoplasia, Retinal pigment epithelia... ORPHA:448237
Estrogen Resistance Syndrome
Hyperinsulinemia, Glucose intolerance, Absence of secondary sex characteristics, Increased circul... ORPHA:785
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hypergo... OMIM:606407
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Pigmentary retinopathy, Cardiomyopathy, Retinal degeneration, Hyperglycemia, Type ... OMIM:520000
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Muscle-Eye-Brain Disease
Gait disturbance, Hydrocephalus, Meningocele, Holoprosencephaly, Elevated circulating creatine ki... ORPHA:588
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperammonemia, Megaloblastic anemia, Methylmalonic acidemia, Hydrocephalus, Elevated circulating... ORPHA:79282
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Ventricular septal defect, Papilledema, Elevated circulating creatine ... OMIM:618775
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Hyperuricemia, Hyperalaninemia, Hepatomegaly, Ventri... ORPHA:348
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Primary adrenal ins... OMIM:617872
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lipodystrophy, Increased CD4:CD8 ratio, Failure to thrive... OMIM:618048
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Gaucher Disease, Type Iii
Ataxia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Decreased body weight, Splenomegaly OMIM:231000
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Ataxia, Spontaneous hemolytic crises, Communicating hydrocephalus, Conjugated... ORPHA:168577
Glycogen Storage Disease Iii
Cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ventricular hyp... OMIM:232400
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia, Gait disturbance OMIM:604484
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Elevat... OMIM:616329
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot, Lymphopenia, Ventriculomegaly, Thrombocytopenia OMIM:618624
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Large for gestational age, Hypoglycemia OMIM:619075
Pick Disease Of Brain
Polyphagia, Disinhibition OMIM:172700
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Anemia, Hepatomegaly, Perimembranous ventricular septal defect, Failure to thrive,... OMIM:608104
Systemic Lupus Erythematosus 17
Optic neuritis, Leukopenia, Autoimmune thrombocytopenia, Lymphopenia, Thrombocytopenia OMIM:301080
Cystic Echinococcosis
Hepatomegaly, Abnormal heart morphology, Eosinophilia, Hyperbilirubinemia, Bone cyst, Splenic cys... ORPHA:400
Acth Deficiency, Isolated
Fasting hypoglycemia, Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotrop... OMIM:201400
Bernard-Soulier Syndrome
Macrothrombocytopenia, Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Impaired ristoce... ORPHA:274
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes ORPHA:721
Gaucher Disease
Hepatomegaly, Osteoarthritis, Ventriculomegaly, Cherry red spot of the macula, Abnormal myocardiu... ORPHA:355
Lipodystrophy, Congenital Generalized, Type 2
Polyphagia, Lipodystrophy, Umbilical hernia, Hyperinsulinemia, Reduced intraabdominal adipose tis... OMIM:269700
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Impaired glucose tolerance, Hydrocephalus, Ventricular septal defect, Hepatomegaly, Ventriculomeg... OMIM:615630
Congenital Enterovirus Infection
Myocarditis, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Hyperammonemia, Anemia, Ca... ORPHA:292
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Reduced C-peptide level, Type I diabetes mellitus OMIM:618856
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Sea-Blue Histiocyte Disease
Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Dk Phocomelia Syndrome
Encephalocele, Thrombocytopenia OMIM:223340
Acquired Generalized Lipodystrophy
Generalized lipodystrophy, Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance, Insulin-re... ORPHA:79086
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymph... OMIM:617718
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hydrocephalus, Left ventricular hypertrophy, Hyperglycorrhachia, Hyperglycemia, Inc... ORPHA:90065
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia OMIM:268150
Isolated Agammaglobulinemia
Anemia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Arthritis, Failure to thrive,... ORPHA:229717
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Hyperglycemia OMIM:615986
Essential Fructosuria
Hyperglycemia, Abnormal erythrocyte enzyme level ORPHA:2056
Aicardi-Goutieres Syndrome 5
Flexion contracture, CSF lymphocytic pleiocytosis, Thrombocytopenia OMIM:612952
Rhabdoid Tumor
Weight loss, Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Congenital Hydrocephalus
Colpocephaly, Hydrocephalus, Abnormal heart morphology, Ventriculomegaly, Optic atrophy, Macular ... ORPHA:2185
Multiple Endocrine Neoplasia Type 4
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... ORPHA:276152
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Pyridoxine-Dependent Epilepsy
Hypoglycemia, Restlessness ORPHA:3006
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Hiatus hernia, Hernia ORPHA:101009
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, H... OMIM:615181
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Colpocephaly, Elevated circulating phytanic acid concentration, Small for ges... OMIM:614866
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinem... OMIM:617049
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia ORPHA:364
Leukopenia, Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Limitation of joint mobility, Splen... ORPHA:108
Chromosome Xq26.3 Duplication Syndrome
Polyphagia, Hypopituitarism, Elevated circulating growth hormone concentration, Increased circula... OMIM:300942
Mirage Syndrome
Radial club hand, Hypoplastic spleen, Leukopenia, Anemia, Hydrocephalus, Lymphopenia, Hyperkalemi... OMIM:617053
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus, Autoimmune thrombocytopenia, Failure to thriv... OMIM:245200
Schaaf-Yang Syndrome
Polyphagia, Camptodactyly, Arthrogryposis multiplex congenita, Hypogonadism, Flexion contracture,... OMIM:615547
Cernunnos-Xlf Deficiency