Gene Summary

Name:
tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
Synonyms:
Parp5a,  mTNKS1,  tankyrase 1,  TANK1,  4930554K12Rik,  D130072O21Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating cholesterol level Tnksem1(IMPC)Hmgu HOM Early adult 1.57×10-06
abnormal retina morphology Tnksem1(IMPC)Hmgu HOM Early adult 1.34×10-06
decreased circulating glucose level Tnksem1(IMPC)Hmgu HOM Early adult 1.04×10-05
decreased circulating HDL cholesterol level Tnksem1(IMPC)Hmgu HOM Early adult 2.99×10-07
decreased erythrocyte cell number Tnksem1(IMPC)Hmgu HOM   Early adult 7.03×10-05
hydrocephaly Tnksem1(IMPC)Hmgu HOM Early adult 0.00
decreased total retina thickness Tnksem1(IMPC)Hmgu HOM Early adult 1.94×10-05
increased mean corpuscular volume Tnksem1(IMPC)Hmgu HOM Early adult 6.81×10-10
increased heart weight Tnksem1(IMPC)Hmgu HOM   Early adult 8.37×10-05
increased circulating bilirubin level Tnksem1(IMPC)Hmgu HOM Early adult 4.92×10-08
increased circulating aspartate transaminase level Tnksem1(IMPC)Hmgu HOM Early adult 3.19×10-06
decreased grip strength Tnksem1(IMPC)Hmgu HOM Early adult 1.49×10-05
decreased circulating triglyceride level Tnksem1(IMPC)Hmgu HOM   Early adult 2.02×10-05
decreased bone mineral density Tnksem1(IMPC)Hmgu HOM   Early adult 2.33×10-06
increased fasting circulating glucose level Tnksem1(IMPC)Hmgu HOM Early adult 1.12×10-08
thrombocytopenia Tnksem1(IMPC)Hmgu HOM Early adult 1.74×10-10
increased red blood cell distribution width Tnksem1(IMPC)Hmgu HOM Early adult 8.60×10-09
decreased bone mineral content Tnksem1(IMPC)Hmgu HOM Early adult 1.27×10-05
decreased vertical activity Tnksem1(IMPC)Hmgu HOM Early adult 8.59×10-05
abnormal gait Tnksem1(IMPC)Hmgu HOM   Early adult 9.54×10-05
increased mean platelet volume Tnksem1(IMPC)Hmgu HOM Early adult 2.98×10-06
increased lean body mass Tnksem1(IMPC)Hmgu HOM Early adult 2.49×10-05
decreased total body fat amount Tnksem1(IMPC)Hmgu HOM Early adult 4.57×10-05
increased circulating alkaline phosphatase level Tnksem1(IMPC)Hmgu HOM Early adult 3.98×10-07

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

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
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Malaria
Anemia, Gait imbalance, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia... ORPHA:673
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Increased adipose tissue, Polyphagia, Type II diabetes me... ORPHA:71529
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Short Stature Due To Ghsr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314811
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Hypoglycemia, Decreased serum insulin-like grow... OMIM:262400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplen... OMIM:616860
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Decrea... ORPHA:79085
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Increased serum leptin, Insul... OMIM:617885
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Hepatomegaly, Increased mean corpuscular hemoglobin concentration, Increased... OMIM:616689
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet h... ORPHA:276580
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Hydrocep... ORPHA:2169
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal... OMIM:616959
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... ORPHA:35878
Sitosterolemia 1
Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat... OMIM:210250
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Decreased serum leptin, Lipodystrophy, Decreased adiponectin level, Diabeti... OMIM:615238
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly,... OMIM:237800
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue aroun... ORPHA:435660
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Hypoket... ORPHA:276575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperinsulinemic hyp... ORPHA:276608
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose t... ORPHA:435651
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia OMIM:618406
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu... OMIM:613673
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He... OMIM:607616
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Agitation, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycemia,... ORPHA:276556
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Increased serum bile acid concentration, Increased total bilirubin, Failure to thri... OMIM:619868
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Ventricular septal defect, Sideroblastic anemia, Throm... OMIM:617021
Obesity And Hypopigmentation
Hyperinsulinemia, Polyphagia OMIM:620195
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Peroxisome Biogenesis Disorder 3B
Elevated CSF guanidinoacetic acid concentration, Steatorrhea, Hepatomegaly, Retinal dystrophy, Os... OMIM:266510
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Hypocholesterolemia, ... OMIM:615558
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytop... OMIM:613839
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Hyperinsulinemia, Polyphagia, Glucose intolerance ORPHA:369873
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Adren... OMIM:262700
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneous adipose t... OMIM:604367
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Hydrocephalus, Vacuolated lymphocytes, Failure to thrive, Splenomegaly,... OMIM:269920
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hemophagocyt... OMIM:267700
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Enamel hypomineralizati... ORPHA:494444
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Spastic gait, Abnormal erythrocyte morphology, Decreased body weight, Elevated cir... ORPHA:96180
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Splenomegaly, Conjugat... OMIM:620010
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Ataxia, Neonatal hyperbilirubinemia, Retinal degeneration, Small for gestational age, Pigmentary ... ORPHA:3363
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
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, T-cell acute lymphoblastic leukemias... OMIM:620044
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane... OMIM:277410
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Polyphagia, Primary hyperparathyroidism, Pituita... ORPHA:97279
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Hyperglycemia, Polyphagia OMIM:222100
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... OMIM:224120
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Decreased skull ossification, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac sep... ORPHA:3319
Diamond-Blackfan Anemia 6
Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Ventricular hypertrophy, Pe... OMIM:612561
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Retinal dystrophy, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Ataxi... ORPHA:713
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocyto... OMIM:615631
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Hypogonadism OMIM:614962
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Fetal Cytomegalovirus Syndrome
Optic atrophy, Hepatomegaly, Anemia, Chorioretinitis, Retinal hemorrhage, Thrombocytopenia, Splen... ORPHA:294
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... OMIM:301310
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Reticulocytosis, Gait ... ORPHA:14
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegal... OMIM:185000
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Hepatomegaly, Elevated circulating creatine kinase concentration, Osteop... OMIM:614727
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hypokalemia, Reticulocytosis, Failure to thrive, Hepatosplenomegaly, Decreased mean corp... OMIM:611590
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Incr... OMIM:603553
Pelger-Huet Anomaly
Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Failure to thr... OMIM:169400
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Macrocytic anemia, Chronic neutropenia, Abnormal heart morphology, ... ORPHA:811
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Inc... OMIM:603552
Bone Marrow Failure Syndrome 3
Aplastic anemia, Amelogenesis imperfecta, Reduced bone mineral density, Anemia, Acute myeloid leu... OMIM:617052
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... OMIM:206200
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Cellulitis, Neutropenia ORPHA:238459
Myh9-Related Disease
Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc... ORPHA:182050
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Generalized lipodystrophy, Hyperactivity, Reduced subcuta... ORPHA:363400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h... OMIM:300908
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Hepatomegaly, Anemia, Cardiomyopathy, Hyperammonemia, Failure to thrive, Thrombocy... ORPHA:79312
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... OMIM:262190
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, ... OMIM:618849
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Situs inversus totalis, Atrial septal defect, Cardiomyopathy, Ventricular septal d... OMIM:249270
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcytic ... OMIM:259720
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Hepatomegaly, Anemia, Macrocytic anemia, Cardiomyopathy, Hyperammonemia, Thrombocy... ORPHA:27
Takenouchi-Kosaki Syndrome
Optic atrophy, Inguinal hernia, Camptodactyly, Pulmonic stenosis, Increased mean platelet volume,... OMIM:616737
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Congenital Toxoplasmosis
Hepatomegaly, Anemia, Hydrocephalus, Abnormality of retinal pigmentation, Thrombocytopenia, Cardi... ORPHA:858
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Radioulnar synostosis ORPHA:71289
Aicardi-Goutieres Syndrome 6
Hepatomegaly, CSF pleocytosis, Increased CSF interferon alpha, Loss of ambulation, Thrombocytopen... OMIM:615010
Pineocytoma
Hydrocephalus, Increased CSF protein concentration, Difficulty walking, Episodic ataxia ORPHA:251912
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia OMIM:166990
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Mandibuloacral Dysplasia
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Loss of subcutaneous a... ORPHA:2457
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hepatomegaly, Increased serum bile acid concentration, Iro... OMIM:616278
Glucocorticoid Deficiency 3
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... OMIM:609197
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph... OMIM:275000
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Harderoporphyria
Hepatomegaly, Reticulocytosis, Splenomegaly, Neonatal hyperbilirubinemia, Increased circulating f... OMIM:618892
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Decreased CSF homovanillic acid concentration, Failure to thrive, Unsteady gait, Hypoglyc... OMIM:610090
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Extramedullary hematopoiesis, Dec... ORPHA:231226
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Elevated circulating alpha-aminoadipic semialdehyde concentration, Elevated circulating pipecolic... OMIM:266100
Rh Deficiency Syndrome
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret... ORPHA:71275
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Hepatomegaly, Anemia, Hyperammonemia, Thrombocytopenia, Choreoathetosis, Lethargy,... ORPHA:289916
Hereditary Spherocytosis
Hepatomegaly, Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concent... ORPHA:822
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Dandy-Walker malformation, Hydrocephalus, Orbital craniosynostosis ORPHA:1538
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Difficulty walking, Iron deficiency anemia, Hepatom... ORPHA:1667
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Osteopenia, Steatorrhea, Hepatomegaly, Cardiomyopa... OMIM:212065
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal dystrophy, Megaloblastic anemia, Ventricular septal defect, Thrombocytopen... ORPHA:49827
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Increased total iron binding capacity, Hepatomegaly, Unconjugated hy... OMIM:613280
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Increased CSF lactate, Camptodactyly, Failure to thrive, Anisocytosis, Flexion cont... OMIM:604273
Bilateral Striopallidodentate Calcinosis
Ventriculomegaly, Hepatomegaly, Thrombocytopenia ORPHA:1980
Forsythe-Wakeling Syndrome
Decreased body weight, Thrombocytopenia, Osteoporosis OMIM:613606
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Hyperinsulinemia, Increased intramuscular fat, Loss of truncal subcutaneous... OMIM:151660
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Hepatomegaly, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemi... OMIM:607765
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegal... OMIM:613101
Beta-Thalassemia Intermedia
Osteopenia, Abnormality of iron homeostasis, Reduced bone mineral density, Hepatomegaly, Extramed... ORPHA:231222
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Retinal dystrophy, Hydrocephalus, Cardiomyopathy, Elevated circulating creatin... OMIM:613155
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Gait disturbance, Retinopathy, Failure to thrive, Lethargy ORPHA:26
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia, Lateral ventricle dilatatio... OMIM:611209
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Nonspherocytic hemolytic anemia, Reti... OMIM:235700
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Osteoporosis, Secundum atrial s... OMIM:612562
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pan... OMIM:259700
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Reticulocytosis, Increased tot... OMIM:232800
Trichothiodystrophy 6, Nonphotosensitive
Broad-based gait, Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemogl... OMIM:616943
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Ventricular hypertrophy, Leukocytosis, Reticulocytosis, P... OMIM:618278
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase concentration OMIM:607091
Propionic Acidemia
Hepatomegaly, Anemia, Pancytopenia, Cardiomyopathy, Osteoporosis, Hyperammonemia, Failure to thri... OMIM:606054
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Limitation of joint mobility, Ataxia ORPHA:99966
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Abnormal circulating threonine concentration, Decre... ORPHA:79096
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia, Umbilical hernia OMIM:620475
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reduced haptoglobin level, Reduced red cell pyruvate kinase level, Hepa... OMIM:266200
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Steatorrhea, Hepatomegaly, Hyperbilirubinemia, Abnormal serum bile acid concentration, F... ORPHA:79303
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia, Colpocephaly, Ventri... ORPHA:261250
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Hyp... OMIM:159550
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Majeed Syndrome
Anemia of inadequate production, Failure to thrive, Hepatosplenomegaly, Flexion contracture, Decr... OMIM:609628
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Osteoporosis, Leukopenia, Thrombocyto... OMIM:127550
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hepatomegaly, Hypergalactosemia, Ventricular septal defect, Pulm... OMIM:222470
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Congenital Disorder Of Glycosylation, Type Il
Atrial septal defect, Hepatomegaly, Pericardial effusion, Failure to thrive, Splenomegaly, Lipody... OMIM:608776
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
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
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Pyruvate Carboxylase Deficiency
Subependymal cysts, Hyperammonemia, Ataxia, Ventriculomegaly, Tip-toe gait, Elevated plasma citru... ORPHA:3008
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Hypertriglyceridemia, Loss of subcutaneous adipose tissue in limbs, Decreased serum ... ORPHA:280365
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Osteopetrosis, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenome... OMIM:615085
Temple Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Precocious puberty, Type II di... ORPHA:254516
Chylomicron Retention Disease
Steatorrhea, Retinopathy, Failure to thrive, Hypocholesterolemia, Acanthocytosis ORPHA:71
Alg12-Cdg
Abnormal bone ossification, Muscular ventricular septal defect, Abnormal adipose tissue morpholog... ORPHA:79324
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytos... OMIM:611490
Squalene Synthase Deficiency
Optic nerve hypoplasia, Increased circulating farnesol concentration, Elbow flexion contracture, ... OMIM:618156
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Hypermethionine... OMIM:614300
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Anemia, Pancytopenia, Diaphyseal sclerosis, R... OMIM:259710
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Anemia, Hepato... OMIM:251110
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Transaldolase Deficiency
Anemia, Increased serum bile acid concentration, Abnormal circulating glutamine concentration, Th... ORPHA:101028
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Agitation, Hypoketotic hypoglycemia, Fasting hypoglycemi... ORPHA:263455
Congenital Erythropoietic Porphyria
Osteopenia, Scarring, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin lev... ORPHA:79277
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Fanconi-Bickel Syndrome
Rickets, Hepatomegaly, Increased serum bile acid concentration, Fasting hypoglycemia, Hypokalemia... OMIM:227810
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Radioulnar synostosis ORPHA:2760
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Reduced bone mineral density, Hepatomegaly, Hypertrophic... ORPHA:848
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Hepatomegaly, Increased body weight ORPHA:890
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... ORPHA:91547
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly, CSF lymphocytic pleiocytosis OMIM:610329
Spherocytosis, Type 1
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hepatomegaly, Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyperbilirubine... OMIM:557000
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Athetosis, Failure to thrive, Thrombocytopenia, Leukopeni... OMIM:229050
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... OMIM:615962
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly, Ataxia OMIM:618709
Hepatoportal Sclerosis
Anemia, Hyperbilirubinemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypoalbuminemia, Hyperspl... ORPHA:64743
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoglycemia, Male hypogo... OMIM:300148
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... OMIM:608600
Albers-Schönberg Osteopetrosis
Optic atrophy, Anemia, Hypocalcemia, Abnormal leukocyte morphology, Arthritis, Recurrent fracture... ORPHA:53
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Lethargy, Neonatal hyperbilirubinemia, Umbilica... ORPHA:95717
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Generalized lipodystrophy, Hepatomegaly, Hypocalcemia, Reduced subcutaneous... OMIM:612526
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop... OMIM:620603
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Inguinal hernia, Failure to thr... OMIM:614857
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Elbow flexion contracture, Hydrocephalus, Broad-based gait OMIM:619470
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Hypoglycemia, Failure to thrive, Thrombocytopenia ORPHA:67048
Syndromic Diarrhea
Abnormality of iron homeostasis, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Hypopl... ORPHA:84064
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia OMIM:615008
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619301
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Elevated hepati... ORPHA:300298
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hyperbilirubinemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Elevated cir... OMIM:251880
Hereditary Elliptocytosis
Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Neonatal hyper... ORPHA:288
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Ventriculomegaly, Hyperglutaminemia, Hyperprolinemia OMIM:616299
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Precocious puberty in females, Adipose tissue loss, Lipod... ORPHA:528
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hepatomegaly, Inability to walk, Ataxia, Splenomegaly, Conjugated hyperbilirubinemi... OMIM:608885
Riboflavin Deficiency
Hypoglycemia, Hypothermia OMIM:615026
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal insufficiency, Hy... OMIM:617872
Hijazi-Reis Syndrome
Hyperbilirubinemia, Gait disturbance OMIM:301094
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Glucocorticoid Deficiency 1
Abnormal circulating renin, Decreased circulating cortisol level, Abnormal circulating aldosteron... OMIM:202200
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Hepatomegaly, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration, Increased C... OMIM:616034
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Hydrocephalus, Hyperbilirubinemia, Decreased body weight, Elev... OMIM:614886
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance OMIM:611808
Eosinophilia, Familial
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Thrombocytopenia, Eosinophilia OMIM:131400
Overlap Myositis
Abnormal circulating lipid concentration, Difficulty walking, Abnormality of connective tissue, A... ORPHA:206572
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Hepatomegaly, Flexion contracture, Hydrocephalus OMIM:300884
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly ORPHA:2924
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Elevated circulating creatinine concentration, Hepatomegaly, Elbow flexion contr... OMIM:608836
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Athetosis, Cardiomyopathy, Ataxia, Thrombocytopenia, Ventriculomegaly, Hypoglycemi... OMIM:617710
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Hydrocephalus, CSF lymphocytic pleiocytosis, Thrombocytopenia, Hepato... OMIM:610333
Potocki-Lupski Syndrome
Patent foramen ovale, Hypocholesterolemia, Failure to thrive, Atrial septal defect, Small for ges... OMIM:610883
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Increased CSF isoleucine concentration, Increased CSF leucine concentration, Increa... OMIM:246900
Alg8-Cdg
Optic atrophy, Anemia, Camptodactyly, Retinopathy, Hyponatremia, Failure to thrive, Thrombocytope... ORPHA:79325
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase... OMIM:611881
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Cardiomyopathy, Hyperammonemia, Failure to thrive, Thromboc... OMIM:251000
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Adipose tissue loss, P... OMIM:246200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol level,... OMIM:618838
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Decreased circulating ... OMIM:614736
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Abnormal circulating insulin concentration, Glycosuria, H... ORPHA:552
14Q11.2 Microduplication Syndrome
Hypothyroidism, Attention deficit hyperactivity disorder, Polyphagia, Aggressive behavior ORPHA:261229
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the lower limbs, Hyperbilirubinemia, Osteolysis involving bones of ... ORPHA:464321
Beta-Thalassemia Major
Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hepatomegaly... ORPHA:231214
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Inguinal hernia, Dandy-Walker malformation, Total anomalous pulmonary venous retur... ORPHA:487796
Fried Syndrome
Hydrocephalus, Gait disturbance, Abnormal optic nerve morphology ORPHA:85335
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Failure to thrive, Thrombocytopenia, Right ventr... OMIM:208085
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Failure to thrive, Neonatal hyperbilirubinemia, Insulin resistance, Hypoglycemia, T... ORPHA:73272
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T... OMIM:300835
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, N... OMIM:598500
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly, Ataxia, Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Hsd10 Mitochondrial Disease
Hypoglycemia, Agitation, Restlessness, Aggressive behavior OMIM:300438
Renal Glucosuria
Polydipsia, Glycosuria, Polyphagia OMIM:233100
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hepatomegaly, Hyperbilirubinemia, Failure to thrive, Splenomegaly OMIM:235555
Bardet-Biedl Syndrome 22
Polyphagia, Hypogonadism OMIM:617119
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Hypergonadotropic hypogonadism ORPHA:79237
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati... OMIM:616834
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Leishmaniasis
Hepatomegaly, Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thr... ORPHA:507
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Bile Acid Conjugation Defect 1
Rickets, Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomeg... OMIM:226990
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Fumarase Deficiency
Optic atrophy, Perimembranous ventricular septal defect, Hyperbilirubinemia, Choroid plexus cyst,... OMIM:606812
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Truncal obesity, Hydrocephalus, Obesi... OMIM:616222
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Retinal dysplasia, Hydrocephalus, Gait disturbance, Camptodactyly of finger, Flexi... ORPHA:272
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Aceruloplasminemia
Anemia, Aceruloplasminemia, Diabetes mellitus, Ataxia, Decreased circulating iron concentration, ... OMIM:604290
Congenital Rubella Syndrome
Atrial septal defect, Hepatomegaly, Anemia, Abnormality of retinal pigmentation, Thrombocytopenia... ORPHA:290
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy ORPHA:295
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Gait imbalance, Elevated circulating creatine kinase concentration, Hy... OMIM:618120
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia ORPHA:517
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158061
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Nasu-Hakola Disease
Acute leukemia, Reduced bone mineral density, Abnormal adipose tissue morphology, Hydrocephalus, ... ORPHA:2770
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Progressive cerebellar ataxia, Elevated circulating C-reactive ... OMIM:610377
Griscelli Syndrome
Abnormal circulating lipid concentration, Hepatomegaly, Encephalocele, Hydrocephalus, Thrombocyto... ORPHA:381
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina... ORPHA:231111
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Hyperinsulinemia, Decreased serum leptin, Polyphagia, Reduced subcutaneous ... OMIM:608594
Graft Versus Host Disease
Limited elbow movement, Dupuytren contracture, Hemophagocytosis, Hyperbilirubinemia, Arthritis, F... ORPHA:39812
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee... ORPHA:33543
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Macular coloboma, Methylmalonic acidemia, Hyperhomocystinemia, Hydrocephalus, Abno... ORPHA:79282
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Hepatomegaly, Pancytopenia, Hydrocephalus, Elevated circulating creatine kinase co... OMIM:614576
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Communicating hydrocephalus, Hepatosplenomegaly, Ataxia, Conjugated... ORPHA:168577
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Unsteady gait, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration, Pi... OMIM:520000
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hypercholesterolemia, Loss of subcutaneous adipose tissue in limbs, Increased a... OMIM:248370
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Panniculitis, Arthritis, Failure to thrive, Thrombocy... OMIM:617591
1Q21.1 Microduplication Syndrome
Hydrocephalus, Failure to thrive, Arthrogryposis multiplex congenita, Tetralogy of Fallot ORPHA:250994
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia OMIM:306000
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Spina bifida occulta, Increase... OMIM:105650
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Leukopenia,... ORPHA:2298
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Small fo... OMIM:618858
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Failure to thri... OMIM:613845
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia, Gait disturbance OMIM:604484
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Polyphagia OMIM:600274
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism ORPHA:177910
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Elevated circulating suberic acid concentration, Increased serum pyruvate, ... OMIM:615160
Muscle-Eye-Brain Disease
Optic atrophy, Meningocele, Hydrocephalus, Elevated circulating creatine kinase concentration, Ga... ORPHA:588
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Delayed proximal femoral epiphyseal ossificatio... ORPHA:95716
Tangier Disease
Hypertriglyceridemia, Anemia, Coronary artery stenosis, Thrombocytopenia, Hepatosplenomegaly, Lef... ORPHA:31150
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Thrombocytopenia, Hepatomegaly, Anemia ORPHA:2123
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Hypoglycemia, Adrenal insufficiency OMIM:619386
Wolfram Syndrome 1
Optic atrophy, Megaloblastic anemia, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Atax... OMIM:222300
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis OMIM:123155
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia, Umbilical hernia ORPHA:95715
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Nonketotic hypoglycem... ORPHA:99901
Hypoadrenocorticism, Familial
Adrenal hypoplasia, Cyanosis, Hypoglycemia, Adrenal insufficiency OMIM:240200
Castleman Disease
Anemia, Elevated circulating C-reactive protein concentration, Restrictive cardiomyopathy, Myelof... ORPHA:160
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Ventricular septal defect, Glycosuria, Failure to thrive, Right ventricular hypertr... OMIM:613404
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Polyphagia, Hypergo... OMIM:606407
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr... OMIM:308240
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinas... OMIM:613153
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Optic atrophy, Increased circulating very long-chain fatty acid concentrat... OMIM:614866
Huntington Disease
Agitation, Oral-pharyngeal dysphagia, Compulsive behaviors, Polyphagia, Choking episodes, Addicti... ORPHA:399
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Polyphagia, Aggressive behavior OMIM:616521
Specific Granule Deficiency 2
Amelogenesis imperfecta, Osteopenia, Anemia, Failure to thrive, Thrombocytopenia, Absent neutroph... OMIM:617475
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Decreased body weight, Ataxia, Thrombocytopenia, Splenomegaly OMIM:231000
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Hypoglycemia, Large for gestational age OMIM:619075
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Anemia, Hepatomegaly,... OMIM:278000
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Anemia, Hepatomegaly, Dextrocardia, Pancytopenia, Hyperhomocystinemia, Me... OMIM:277380
Elliptocytosis 2
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:130600
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Camptodactyly, Failure to thrive,... OMIM:608104
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Fasting hypoglycemia, Hyperuricemia, Hyperalaninemia, Neonat... ORPHA:348
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Flexion contracture of toe, Hypogonadotropic hypogonadism, Finger joint contracture ORPHA:48431
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Glucocorticoid Deficiency 2
Abnormal circulating renin, Decreased circulating cortisol level, Recurrent hypoglycemia, Increas... OMIM:607398
Schaaf-Yang Syndrome
Polyphagia, Impulsivity, Camptodactyly, Skin-picking, Flexion contracture, Hypogonadism, Arthrogr... OMIM:615547
Zika Virus Disease
Optic disc hypoplasia, Arthritis, Chorioretinal atrophy, Abnormal optic disc morphology, Thromboc... ORPHA:448237
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Acth Deficiency, Isolated
Adrenal hypoplasia, Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotrop... OMIM:201400
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Systemic Lupus Erythematosus 17
Optic neuritis, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Wilson Disease
Chondrocalcinosis, Anemia, Decreased circulating ceruloplasmin concentration, Hepatomegaly, Joint... OMIM:277900
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Small for ge... OMIM:606176
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased proinsulin:insulin rati... ORPHA:94086
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Thrombocytopenia, Ataxia, Weight loss, Lethargy ORPHA:79242
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Hyperinsulinemia, Decreased serum leptin, Polyphagia, Reduced subcutaneous ... OMIM:269700
Lathosterolosis
Anisopoikilocytosis, Hyperbilirubinemia, Osteoporosis, Hyperammonemia, Elevated circulating latho... OMIM:607330
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Hypoglycemia, Hyperlipidemia ORPHA:369
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Bone cyst, Hyperbilirubinemia, Abnormal heart morphology, Weight loss... ORPHA:400
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c... OMIM:620481
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia OMIM:232400
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... ORPHA:274
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Decreased circulating carnitine concentration, Hyperisoleucinemia, Cardiomyopathy, ... ORPHA:2394
Noonan Syndrome 12
Thrombocytopenia, Tetralogy of Fallot, Lymphopenia, Ventriculomegaly, Ventricular septal defect OMIM:618624
Gaucher Disease
Decreased HDL cholesterol concentration, Retinopathy, Joint stiffness, Leukopenia, Splenomegaly, ... ORPHA:355
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Polyphagia OMIM:615986
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa... OMIM:618775
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, B lymphocytopenia, Failure to thrive, Thro... OMIM:618048
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Generalized lipodystrophy, Hyperinsulinemia, Panniculitis, Insulin resistan... ORPHA:79086
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, CSF lymphocytic pleiocytosis, Cardiomyopathy... ORPHA:292
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr... ORPHA:785
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly