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Gene: Npy2r MGI:108418

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Gene Summary

Name:
neuropeptide Y receptor Y2
Synonyms:
NPY-Y2 receptor

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
increased spleen weight Npy2rem1(IMPC)H HOM Late adult 1.33×10-07
abnormal locomotor behavior Npy2rem1(IMPC)H HOM   Early adult 2.00×10-05
decreased bone mineral density Npy2rem1(IMPC)H HOM Early adult 9.24×10-05
enlarged spleen Npy2rem1(IMPC)H HOM Late adult 0.00

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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.

Phenotype associated images not available

Human diseases caused by Npy2r 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 Npy2r by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bulimia Nervosa, Susceptibility To
Bulimia OMIM:607499
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Childhood-onset truncal obesity, Increased adipose tissue, Obesity, Hypertension ORPHA:71529
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Polyphagia OMIM:248100
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Hepatosplenomegaly OMIM:242520
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Tall stature OMIM:618406
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia OMIM:617119
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia ORPHA:329249
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Polyphagia, Childhood-onset truncal obesity, Increased adipose tissue, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Polyphagia, Childhood-onset truncal obesity, Increased adipose tissue, Obesity ORPHA:71526
Obesity Due To Sim1 Deficiency
Obesity, Polyphagia, Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Tachycardia, Syncope, Large for gestational age, Polyphagia, Hypertrophic cardiomyo... ORPHA:276556
Leptin Deficiency Or Dysfunction
Obesity, Polyphagia, Abnormal eating behavior OMIM:614962
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Tachycardia, Syncope, Large for gestational age, Polyphagia, Hypertrophic cardiomyo... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Tachycardia, Syncope, Large for gestational age, Polyphagia, Hypertrophic cardiomyo... ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Palpitations, Tachycardia, Syncope, Large for gestational age, Polypha... ORPHA:324575
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Obesity, Polyphagia, Ataxia ORPHA:411515
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Polyphagia OMIM:609734
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
Leptin Receptor Deficiency
Obesity, Polyphagia, Abnormal eating behavior OMIM:614963
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia ORPHA:177910
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia OMIM:616521
6Q16 Microdeletion Syndrome
Broad-based gait, Obesity, Polyphagia ORPHA:171829
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Central Diabetes Insipidus
Failure to thrive, Polydipsia, Depression, Anxiety, Seizure, Weight loss, Diabetes insipidus ORPHA:178029
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Huntington Disease
Gait imbalance, Inability to walk, Bradykinesia, Decreased body mass index, Gait disturbance, Pol... ORPHA:399
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:616950
Osteoporosis
Osteoporosis OMIM:166710
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Body Mass Index Quantitative Trait Locus 19
Obesity, Polyphagia OMIM:617885
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:108420
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Graves Disease, Susceptibility To, 1
Polyphagia, Weight loss, Congestive heart failure OMIM:275000
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Obesity, Truncal obesity OMIM:615986
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Abnormality o... ORPHA:79299
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia OMIM:304900
Pick Disease Of Brain
Polyphagia OMIM:172700
Temple Syndrome
Obesity, Polyphagia, Small for gestational age ORPHA:254516
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia, Irritability, Seizure OMIM:240800
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Schaaf-Yang Syndrome
Inability to walk, Flexion contracture, Camptodactyly, Polyphagia, Arthrogryposis multiplex conge... OMIM:615547
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Osteoporosis, Wide nose, Delayed puberty, Delayed thelarche, Gener... OMIM:616033
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Pituicytoma
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... ORPHA:251623
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Insulinoma
Increased body weight, Polyphagia, Palpitations, Lethargy ORPHA:97279
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Frontotemporal Dementia
Polyphagia OMIM:600274
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity, Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity, Hypertension OMIM:605572
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Progressive neurologic... ORPHA:276608
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Carcinoma Of Esophagus
Dysphagia, Obesity, Weight loss ORPHA:70482
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Seizure, Insulin resistanc... ORPHA:263458
Leukoencephalopathy With Vanishing White Matter
Primary gonadal insufficiency, Emotional lability, Memory impairment, Optic atrophy, Seizure, Dec... OMIM:603896
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Narcolepsy Type 1
Obesity, Syncope ORPHA:2073
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Tenorio Syndrome
Hydrocephalus, Hypoinsulinemia, Osteopenia, Anxiety, Hypoglycemia, Wide nose, Seizure, Anteverted... OMIM:616260
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Hypersecretion Of Adrenal Androgens, Familial
Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration OMIM:145295
X-Linked Intellectual Disability, Cilliers Type
Failure to thrive, Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Co... ORPHA:163971
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Elevated cir... OMIM:600785
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Increased ci... OMIM:610600
Teratoma, Pineal
Polydipsia OMIM:273120
Ane Syndrome
Multiple joint contractures, Decreased serum testosterone concentration, Decreased response to gr... ORPHA:157954
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Hypergo... ORPHA:163976
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Pediatric-Onset Graves Disease
Failure to thrive, Polydipsia, Graves disease, Craniosynostosis, Increased circulating free T3, I... ORPHA:525731
Man1B1-Cdg
Broad-based gait, Polyphagia, Truncal obesity ORPHA:397941
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... ORPHA:556037
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Bulbous nose, Decreased serum testosterone concentration, Small for gestationa... OMIM:300869
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... ORPHA:556030
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
49,Xxxyy Syndrome
Decreased serum testosterone concentration, Eunuchoid habitus, Recurrent upper respiratory tract ... ORPHA:261534
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity ORPHA:436141
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Alg6-Cdg
Failure to thrive, Puberty and gonadal disorders, Increased circulating androgen concentration, S... ORPHA:79320
Bardet-Biedl Syndrome 17
Polydipsia, Cognitive impairment, Hyposmia, Hypogonadism, Obesity, Anosmia OMIM:615994
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Mody
Glucose intolerance, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin concentration, H... ORPHA:552
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Status epilepticus, Reduced intraabdominal adipose tissue, H... ORPHA:363400
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189427
2Q23.1 Microdeletion Syndrome
Polyphagia, Ataxia ORPHA:228402
Septo-Optic Dysplasia Spectrum
Polydipsia, Optic nerve hypoplasia, Abnormality of the hypothalamus-pituitary axis, Maternal diab... ORPHA:3157
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... ORPHA:90793
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Focal impaired awareness seizure, Adrenal hyperplasia, Abnormal circulating renin, Bi... ORPHA:369929
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Familial Hyperaldosteronism Type I
Polydipsia, Adrenal hyperplasia, Abnormal circulating renin, Epistaxis, Secretory adrenocortical ... ORPHA:403
Chromosome Xq26.3 Duplication Syndrome
Overgrowth, Polyphagia, Tall stature OMIM:300942
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Cystinosis
Failure to thrive, Nephrogenic diabetes insipidus, Polydipsia, Hypothyroidism, Type I diabetes me... ORPHA:213
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Familial Cold Urticaria
Polydipsia ORPHA:47045
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Polydipsia, Seizure, Irritability, Diabetes insipidus OMIM:304800
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased serum testosterone level, Polydipsia, Precocious p... ORPHA:769
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Nephrogenic diabetes insipidus, Polydipsia, Seizure, Irritability OMIM:125800
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia OMIM:606407
Luscan-Lumish Syndrome
Obesity, Polyphagia, Overgrowth OMIM:616831
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189439
49,Xyyyy Syndrome
Decreased serum testosterone concentration, Eunuchoid habitus, Impulsivity, Recurrent upper respi... ORPHA:99330
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Polyphagia, Hypertension, Abnormal dental enamel morphology ORPHA:251004
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Multiple bony cystic lesions, Abnormal cementum morphology, Abnormal tra... ORPHA:83451
Vitamin D-Dependent Rickets, Type 2A
Secondary hyperparathyroidism, Failure to thrive, Delayed epiphyseal ossification, Sparse bone tr... OMIM:277440
Immunodeficiency 32B
Splenomegaly OMIM:226990
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Secondary hyperparathyroidism, Failure to thrive, Delayed epiphyseal ossification, Sparse bone tr... OMIM:264700
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the ovary, Decreased serum testosterone concentration, Eunuchoid habitus, Depressio... ORPHA:432
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Panhypophysitis
Adrenocorticotropic hormone deficiency, Polydipsia, Decreased serum testosterone concentration, R... ORPHA:95513
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Polydipsia, Abnormality of circulatin... ORPHA:320
Autosomal Recessive Spastic Paraplegia Type 26
Pseudobulbar paralysis, Decreased serum testosterone concentration ORPHA:101006
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly OMIM:620010
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
East Syndrome
Polydipsia, Salt craving, Increased circulating renin level, Generalized-onset seizure, Seizure, ... ORPHA:199343
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Impulsivity, Generalized myoclonic ... ORPHA:101039
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypogonadotropic hypogonadis... OMIM:614841
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased serum testosterone concentration, Eunuchoid habitus, Elevated circulating luteinizing h... ORPHA:3044
Narcolepsy 3
Narcolepsy OMIM:609039
Ochoa Syndrome
Polydipsia ORPHA:2704
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Generalized-onset... ORPHA:35878
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Optic atrophy, Atypical scarring of skin, Hypogonadi... ORPHA:791
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypothalamic gonadotropin-re... OMIM:618841
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Hyposmia, Decreased circulating follicle stimulating ... OMIM:614897
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Obesity, Polyphagia, Hypertension OMIM:612469
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... ORPHA:79301
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Ovarian Dysgenesis 4
Decreased body weight, Elevated circulating follicle stimulating hormone level, Decreased serum e... OMIM:616185
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Whipple Disease
Polydipsia, Hydrocephalus, Depression, Cachexia, Myoclonus, Hypothyroidism, Seizure, Insulin resi... ORPHA:3452
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Decreased serum testosterone concentration, Small for gestational ag... ORPHA:2959
Familial Hyperaldosteronism Type Iii
Polydipsia, Adrenal hyperplasia, Abnormal circulating renin, Epistaxis, Glucocortocoid-insensitiv... ORPHA:251274
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Jaundice OMIM:619658
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Mental deterioration, Osteopenia, Depression, Anxiety, Oste... OMIM:219080
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Failure to thrive, Decreased serum testosterone concentration, Decreased circulating androgen con... ORPHA:90796
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Nephronophthisis 4
Polydipsia OMIM:606966
Perlman Syndrome
Status epilepticus, Hyperinsulinemia, Inguinal hernia, Femoral hernia, Short nose, Seizure, Antev... ORPHA:2849
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Ins... ORPHA:2457
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:619613
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Emotional lability OMIM:609195
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, H... ORPHA:79237
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Trisomy 18P
Polyphagia ORPHA:1715
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia, Weight loss ORPHA:2126
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... ORPHA:293978
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Meningioma
Hydrocephalus, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnorma... ORPHA:2495
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycem... ORPHA:263455
Narcolepsy 7
Narcolepsy OMIM:614250
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia OMIM:613313
Hypocalcemic Vitamin D-Dependent Rickets
Secondary hyperparathyroidism, Failure to thrive, Delayed epiphyseal ossification, Sparse bone tr... ORPHA:289157
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Polyphagia, Obesity, Lethargy ORPHA:398079
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Weight loss ORPHA:95427
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... OMIM:616278
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Functioning Gonadotropic Adenoma
Increased serum testosterone level, Adrenocorticotropic hormone deficiency, Hydrocephalus, Abnorm... ORPHA:91348
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Pseudoleprechaunism Syndrome, Patterson Type
Increased circulating androgen concentration, Atonic seizure, Bilateral tonic-clonic seizure, Pro... ORPHA:2976
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Estrogen Resistance
Osteopenia, Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Bile duct proliferation, Portal ... OMIM:602347
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Angelman Syndrome
Broad-based gait, Ataxia, Inability to walk, Polyphagia, Dysphagia, Obesity ORPHA:72
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... ORPHA:90790
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Elevated circulating follicle stimulating hormone lev... OMIM:301077
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Abnormality of the sense of smell, Hypogonadotropic h... OMIM:228300
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal... OMIM:604367
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Nephronophthisis 3
Polydipsia OMIM:604387
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Bulbous nose, Hydrocephalus, Decreased circulating androgen concentration, Craniosynostosis, Decr... ORPHA:95699
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Increased serum testosterone level, Glucose intolerance, Hyperinsulin... ORPHA:2298
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Mccune-Albright Syndrome
Increased serum testosterone level, Monostotic fibrous dysplasia, Precocious puberty, Abnormal en... ORPHA:562
46,Xy Sex Reversal 11
Decreased serum testosterone concentration, Absence of pubertal development, Elevated circulating... OMIM:273250
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Sparse bone trabeculae, Failure to thrive, Thin bony cortex, Ric... OMIM:600081
Short Stature, Dauber-Argente Type
Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density OMIM:619489
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Flexion contracture, Polyphagia, Increased body weight, Let... ORPHA:398069
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Narcolepsy 1
Narcolepsy OMIM:161400
Wolfram Syndrome
Polydipsia, Abnormal autonomic nervous system physiology, Optic atrophy, Delayed puberty, Diabete... ORPHA:3463
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Tall stature, Reduced... OMIM:608594
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Portal fibrosis, Jaundice, Acholic stools OMIM:619868
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Depressed nasal bridge, Increased circulating prolactin concentration, Emotional labi... ORPHA:293987
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Precocious puberty, Decreased circulating cortisol level, Pre... ORPHA:90795
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Parathyroid Carcinoma
Abnormality of the parathyroid morphology, Polydipsia, Lipoma, Thyroid carcinoma, Parathyroid car... ORPHA:143
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Apathy, Decreased serum testosterone concentration, Hypogonadotropic hypogona... ORPHA:465508
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Primary hyperparathyroidism, Polydipsia, Failure ... OMIM:239200
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Adrenal hyperplasia, Decreased circulating renin level, Epistaxis, Glucocortocoid-ins... ORPHA:231580
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Non-Functioning Pituitary Adenoma
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... ORPHA:91349
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
X-Linked Acrogigantism
Polyphagia, Increased body mass index, Tall stature, Ataxia ORPHA:300373
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:75234
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Bone cyst, Lipodystrophy, Hyp... ORPHA:528
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Morbid Obesity And Spermatogenic Failure
Obesity, Hypertension, Myocardial infarction, Congestive heart failure OMIM:615703
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum testosterone concentration, Streak ovary, Decreased serum estradiol, Male hypogon... ORPHA:168563
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Polydipsia, Salt craving, Increased circulating renin level, Seizure, Hyperaldosteronism OMIM:612780
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... OMIM:262190
Perrault Syndrome 4
Hypoplasia of the ovary, Cognitive impairment, Osteoporosis, Decreased serum estradiol, Obesity, ... OMIM:615300
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Aarskog-Scott Syndrome
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Inguinal herni... OMIM:305400
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
47,Xyy Syndrome
Increased serum testosterone level, Hydrocephalus, Impulsivity, Seizure, Increased circulating go... ORPHA:8
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Bangstad Syndrome
Hyperinsulinemia, Convex nasal ridge, Increased circulating cortisol level, Abnormality of the pa... ORPHA:1227
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Prolonged n... OMIM:616828
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D... ORPHA:289548
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:612526
Nephrogenic Diabetes Insipidus
Failure to thrive, Nephrogenic diabetes insipidus, Seizure, Polydipsia ORPHA:223
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Tall stature, Reduced... OMIM:269700
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Increased body weight, Increased body mass index, Omphalocele OMIM:614450
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D... ORPHA:168558
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... OMIM:300853
46,Xx Sex Reversal 5
Increased serum testosterone level, Aplasia of the left hemidiaphragm OMIM:618901
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Nephronophthisis 1
Polydipsia OMIM:256100
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity ORPHA:3085
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia OMIM:604121
Infantile Nephropathic Cystinosis
Failure to thrive, Polydipsia, Cognitive impairment, Glycosuria, Abnormality of thyroid physiolog... ORPHA:411629
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormality of the parathyroid morphology, Polydipsia, Lipoma, Thyroid carcinoma, Parathyroid ade... ORPHA:99880
Gitelman Syndrome
Failure to thrive, Polydipsia, Chondrocalcinosis, Salt craving, Increased circulating renin level... OMIM:263800
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... ORPHA:786
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... ORPHA:3464
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia ORPHA:158029
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Failure to thr... OMIM:241530
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Decreased serum testosterone concentration, Emotional lability, Hypogonadism, ... OMIM:201100
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Small for gestational age, Bulimia, Polyphagia, Obesity ORPHA:98754
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Inguinal hernia, Dysmetria, Polyphagia, U... ORPHA:96121
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cognitive impairment, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Decreased mo... OMIM:604168
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol OMIM:618723
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Small for gestational age, Bulimia, Polyphagia, Obesity ORPHA:98793
Harderoporphyria
Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis OMIM:618892
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Small for gestational age, Bulimia, Polyphagia, Obesity ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Small for gestational age, Bulimia, Polyphagia, Obesity ORPHA:177901
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia, Ataxia OMIM:156200
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia OMIM:300635
Weaver Syndrome
Joint contracture of the hand, Inguinal hernia, Overgrowth, Camptodactyly, Polyphagia, Umbilical ... OMIM:277590
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Polydipsia, Panhypopituitarism, Anterior hypopituitarism, Increased cir... ORPHA:91351
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:248370
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Craniopharyngioma
Obesity, Polyphagia, Myocardial infarction, Cerebral ischemia ORPHA:54595
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... OMIM:615559
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Glucose intolerance, Hyperinsulinemia, Absence of pubertal devel... ORPHA:785
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad-based gait, Polyphagia ORPHA:251028
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... OMIM:150550
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95512
Prader-Willi-Like Syndrome
Failure to thrive, Small for gestational age, Bulimia, Polyphagia, Obesity ORPHA:398073
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:614842
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Increased antimullerian hormone level, Abnormal circulating f... ORPHA:99429
Joubert Syndrome 32
Large for gestational age, Ataxia, Hypertrophic cardiomyopathy, Tall stature OMIM:617757
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Polyphagia, Hypertension ORPHA:739
Ovarian Fibrothecoma
Abnormal circulating hormone concentration, Increased serum testosterone level ORPHA:314478
Central Precocious Puberty
Increased body weight, Obesity, Overgrowth ORPHA:759
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Decreased serum estradio... OMIM:619665
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Splenomegaly OMIM:602390
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile plugs, He... OMIM:617394
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Prader-Willi Syndrome
Abdominal obesity, Obesity, Polyphagia, Failure to thrive in infancy OMIM:176270
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly ORPHA:163596
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Jaundice, Acholic stools OMIM:613812
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231000
Nephronophthisis 11
Polydipsia OMIM:613550
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... OMIM:601847
Gangliocytoma
Polyphagia ORPHA:251937
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... ORPHA:848
Cushing Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... ORPHA:96253
Gonadoblastoma
Increased serum testosterone level ORPHA:206484
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... ORPHA:563
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Polyphagia, Choreoathetosis, Obesity, Prolonged QT interval, Hypertension ORPHA:79443
Gitelman Syndrome
Failure to thrive, Polydipsia, Type II diabetes mellitus, Graves disease, Glucose intolerance, Pa... ORPHA:358
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Obesity, Polyphagia, Prolonged QT interval ORPHA:79444
46,Xx Gonadal Dysgenesis
Streak ovary, Reduced bone mineral density, Osteopenia, Decreased serum estradiol, Delayed pubert... ORPHA:243
Erdheim-Chester Disease
Polydipsia, Increased bone mineral density, Hypogonadotropic hypogonadism, Osteolysis, Xanthelasm... ORPHA:35687
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Hurler-Scheie Syndrome
Abnormality of the tonsils, Hepatomegaly, Splenomegaly ORPHA:93476
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98863
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Osteomalacia, ... OMIM:300554
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice ORPHA:79477
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Cystinosis, Nephropathic
Hypophosphatemic rickets, Polydipsia, Glycosuria, Progressive neurologic deterioration, Failure t... OMIM:219800
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Congenital adrenal hyperplasia, Inguinal hernia ORPHA:96181
Adnp Syndrome
Inguinal hernia, Truncal obesity, Polyphagia, Umbilical hernia, Oral-pharyngeal dysphagia ORPHA:404448
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Failure to thrive, Polydipsia, Small for gestational age, O... OMIM:241200
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Increased serum testosterone level, Decreased circulating a... ORPHA:90794
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... OMIM:612714
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Wolman Disease
Hepatomegaly, Splenomegaly, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619834
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Obesity ORPHA:247768
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased serum testosterone concentration, Small pituitary gland, Streak ovary, Hypergonadotropi... ORPHA:2232
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly OMIM:235555
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Bile duct proliferation OMIM:613027
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Flexion contracture, Insulin resistance, Osteopenia, Osteopo... OMIM:613327
Immunodeficiency 54
Lymphadenopathy, Hepatomegaly, Reduced natural killer cell count, Splenomegaly OMIM:609981
Oligomeganephronia
Polydipsia, Congenital diaphragmatic hernia, Small for gestational age, Optic disc coloboma, Seizure ORPHA:2260
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly OMIM:618398
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancr... OMIM:246200
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancyto... ORPHA:507
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Failure to thrive, Abnormality of the thyroid gland, Thyroid dysgenesis, Myoc... ORPHA:209905
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Broad-based gait, Ataxia, Abnormal eating behavior, Dysphagia, Obesity ORPHA:411511
Renal Hypoplasia
Polydipsia ORPHA:93101
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:391
Helix Syndrome
Polydipsia OMIM:617671
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... OMIM:308240
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... OMIM:301078
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... ORPHA:3226
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... OMIM:619824
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... OMIM:211600
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:615723
Steinert Myotonic Dystrophy
Facial diplegia, Testicular atrophy, Hyperinsulinemia, Hypergonadotropic hypogonadism, Mental det... ORPHA:273
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... OMIM:224120
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Rothmund-Thomson Syndrome
Reduced bone mineral density, Small for gestational age, Osteopenia, Aplastic anemia, Abnormal tr... ORPHA:2909
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Increased serum testosterone level, Increased antimullerian ... ORPHA:90797
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly OMIM:207750
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Rothmund-Thomson Syndrome Type 1
Small for gestational age, Osteopenia, Aplastic anemia, Abnormal trabecular bone morphology, Hypo... ORPHA:221008
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... OMIM:613011
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Portal hypertension, Ascites, ... ORPHA:131
Leydig Cell Hypoplasia
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Female hypogonadism, ... ORPHA:755
Dent Disease 1
Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex, Rickets OMIM:300009
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ...