Gene Summary

Name:
dual oxidase 2
Synonyms:
A430065P05Rik

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
abnormal kidney morphology Duox2em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Duox2em1(IMPC)Mbp HOM Early adult 0.00
increased circulating total protein level Duox2em1(IMPC)Mbp HOM Early adult 2.03×10-07
decreased prepulse inhibition Duox2em1(IMPC)Mbp HOM Early adult 0.00
small liver Duox2em1(IMPC)Mbp HOM Early adult 0.00
increased neutrophil cell number Duox2em1(IMPC)Mbp HOM Early adult 1.57×10-07
small kidney Duox2em1(IMPC)Mbp HOM Early adult 0.00
decreased heart weight Duox2em1(IMPC)Mbp HOM Early adult 2.99×10-08
increased circulating serum albumin level Duox2em1(IMPC)Mbp HOM Early adult 2.26×10-06
increased freezing behavior Duox2em1(IMPC)Mbp HOM Early adult 5.68×10-33
female infertility Duox2em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Duox2em1(IMPC)Mbp HOM Early adult 0.00
increased circulating cholesterol level Duox2em1(IMPC)Mbp HOM Early adult 1.36×10-22
decreased exploration in new environment Duox2em1(IMPC)Mbp HOM Early adult 2.97×10-05
decreased lymphocyte cell number Duox2em1(IMPC)Mbp HOM Early adult 3.42×10-05
small spleen Duox2em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Duox2em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Duox2em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Duox2em1(IMPC)Mbp HOM Early adult 0.00
increased fasting circulating glucose level Duox2em1(IMPC)Mbp HOM Early adult 4.06×10-06
increased circulating calcium level Duox2em1(IMPC)Mbp HOM   Early adult 7.51×10-05
increased mean corpuscular volume Duox2em1(IMPC)Mbp HOM Early adult 5.27×10-09
increased circulating creatinine level Duox2em1(IMPC)Mbp HOM Early adult 1.64×10-07
small heart Duox2em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Duox2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Duox2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Duox2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Duox2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Epiphyseal stippling, Goiter, Impaired sensitivity to thyroid hormone, Hearing impairment, Small ... OMIM:274300
Pendred Syndrome
Compensated hypothyroidism, Goiter, Cochlear malformation, Vestibular dysfunction, Thyroid carcin... OMIM:274600
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Weight loss, Activating thyroid-stimulating hormone receptor defect, Small for gestationa... ORPHA:424
Hyperthyroidism, Nonautoimmune
Small for gestational age, Goiter, Hyperthyroidism, Thyroid hyperplasia OMIM:609152
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Azoospermia, Hepatomegaly, Hypogonadis... OMIM:615234
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Goiter, Thyroid carcinoma OMIM:274700
Familial Gestational Hyperthyroidism
Goiter, Weight loss, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with ... ORPHA:99819
Fetal Iodine Deficiency Disorder
Hearing impairment, Congenital hypothyroidism, Congenital goiter OMIM:228355
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Delayed proximal femoral epiphyseal ossification, De... ORPHA:95716
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Thrombocytopenia, Irritability, Hypercalcemia, Anemia, Lymphade... ORPHA:69077
Multiple Myeloma
Acute kidney injury, Elevated circulating creatinine concentration, Nephropathy, Hyperproteinemia... ORPHA:29073
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Goiter, Increased circulating free T3 OMIM:188570
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Goiter, Hypothyroidism, Enlarged vestibular aqueduct, Sensori... ORPHA:705
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Primary amenorrhea, He... OMIM:612526
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Cirrhosis, Elevated hepatic transamina... OMIM:616860
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:262710
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:300123
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ... OMIM:232700
Retinohepatoendocrinologic Syndrome
Infertility, Hypothyroidism, Maturity-onset diabetes of the young, Optic disc pallor OMIM:268040
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Goiter, Thyroid defect in oxidation and organification of iodide OMIM:274500
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... OMIM:616828
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Fetal Iodine Syndrome
Hypothyroidism, Sensorineural hearing impairment ORPHA:1910
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Multiple Endocrine Neoplasia, Type Iia
Increased circulating cortisol level, Pheochromocytoma, Aganglionic megacolon, Thyroid C cell hyp... OMIM:171400
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the t... OMIM:603554
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Wolfram-Like Syndrome
Male hypogonadism, Hypothyroidism, Abnormality of the pinna, Delayed puberty, Optic atrophy, Diab... ORPHA:411590
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Agenesis of corpus callosum, Primary hypothyroidism OMIM:225040
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Ciliary Dyskinesia, Primary, 37
Infertility, Hypothyroidism, Hearing impairment, Goiter OMIM:617577
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymph... ORPHA:100025
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 level OMIM:615999
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Dementia, Splenomegaly ORPHA:2274
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Absent ossification of capital femoral epiphysis, Elevate... ORPHA:226313
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Recurrent fractures, Follicular thyroid carcinoma, Papillary thyroid carc... ORPHA:319487
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Elevate... OMIM:613313
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Hypercalcemia, Abnormality of the lymph nodes ORPHA:33111
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Infertility, Azoospermia, Oligospermia, Insulin resistance, Hepatic steatos... OMIM:615703
Congenital Atransferrinemia
Hypothyroidism, Arthritis ORPHA:1195
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pheochromocytoma, Thyroid follicular hyperplas... OMIM:160980
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Cognitive impairment ORPHA:172
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Progressive hearing impairment OMIM:616113
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Ventricular septal hypertrophy, Elevated circulating creatine kinase concen... ORPHA:370
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficiency OMIM:262700
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Ja... OMIM:603552
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Recurrent fractures, Papillary thyroid carcinoma, Nodular goiter ORPHA:97290
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Hypersplenism, Bone-marrow foam... OMIM:278000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH... OMIM:300888
Myxedema
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Hypohidrosis OMIM:255900
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Small for gestational age, Cerebral hypoplasia, Prim... OMIM:210740
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hepatomegaly, Hypercalcemia, Ascites, Anemia, Renal insufficiency ORPHA:2123
Thyroid Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Elevated hepatic transam... ORPHA:398063
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Enlarged mese... OMIM:209950
Rothmund-Thomson Syndrome, Type 1
Osteoporosis, Male hypogonadism, Hypothyroidism, Recurrent otitis media, Premature ovarian insuff... OMIM:618625
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Hypervitaminosis A, Susceptibility To
Renal insufficiency, Ascites, Hypercalcemia, Abnormality of the liver OMIM:240150
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter, Umbilical hernia OMIM:274400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Aggressive behavior, Elevated hepatic transaminase, Hepati... ORPHA:247585
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating hormone level, ... ORPHA:457059
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Psychomotor deterioration... ORPHA:79237
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Hyperhidrosis, Weight loss OMIM:275000
Maternal Uniparental Disomy Of Chromosome 9
Elbow ankylosis, Low-set ears, Congenital hypothyroidism, Failure to thrive, Hamstring contractures ORPHA:96183
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... ORPHA:507
Mccune-Albright Syndrome
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... ORPHA:562
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Abnormality of circulating adrenocor... ORPHA:251623
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
Carney Complex
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:1359
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, Elevated hepatic iron concentrat... ORPHA:231222
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Maffucci Syndrome
Neoplasm of the parathyroid gland, Osteolysis, Goiter, Ovarian neoplasm, Recurrent fractures, Neo... ORPHA:163634
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Goiter OMIM:274240
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology DECIPHER:16
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... OMIM:613673
Thyroid Hormone Metabolism, Abnormal
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Thyrocerebrorenal Syndrome
Euthyroid goiter, Sensorineural hearing impairment ORPHA:3327
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Anemia, Elevated circulating creatine kinase concentration, Abnormal erythr... ORPHA:264580
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Infertility, Cirrhosis, Azoospermia, Dilated cardio... OMIM:602390
Glutaric Aciduria Iii
Goiter, Hyperthyroidism, Failure to thrive OMIM:231690
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatomegaly, ... OMIM:615895
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Goiter, Umbilical hernia ORPHA:226292
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Multiple Endocrine Neoplasia Type 2
Parathyroid hyperplasia, Ganglioneuromatosis, Joint laxity, Pheochromocytoma, Thyroid nodule, Aga... ORPHA:653
Leptospirosis
Elevated serum transaminases during infections, Acute kidney injury, Pericarditis, Cellular urina... ORPHA:509
Shwachman-Diamond Syndrome
Neutropenia, Pancytopenia, Pancreatic hypoplasia, Anemia, Leukopenia, Thrombocytopenia, Elevated ... ORPHA:811
Blepharochalasis And Double Lip
Goiter OMIM:109900
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Abnorma... ORPHA:98870
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, Cholest... OMIM:617156
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Methylcobalamin Deficiency Type Cble
Neutropenia, Pancytopenia, Hemolytic-uremic syndrome, Hypomethioninemia, Hyperhomocystinemia, Inc... ORPHA:2169
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... OMIM:615559
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Blue Diaper Syndrome
Abnormal abdomen morphology, Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan con... OMIM:211000
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Elevated hepatic transaminase, Eleva... ORPHA:275555
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Azoospermia, Elevated hepatic transaminase, Decreas... ORPHA:300298
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly,... OMIM:607616
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Ventricular septal defect, Hepatomega... OMIM:235255
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism, Weight loss OMIM:188580
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hemolytic anemia, Reticulocytosis, Distal renal tubular acidosis, Isothenuria, ... OMIM:611590
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism, Weight loss OMIM:613239
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Amenorrhe... OMIM:604250
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Genetic Transient Congenital Hypothyroidism
Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result, Elevated ... ORPHA:226316
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Abnormality of iron homeostasis, Decreased mean corpusc... ORPHA:231226
Thyroid Lymphoma
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyperthyroidism ORPHA:97285
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Weight loss, Hyperhidrosis, Primary hyperparathyroidism, N... ORPHA:1332
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the lymph nodes, Hyperuricemi... ORPHA:543
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Delayed proximal femoral epiphyseal ossification, Increased pituitary glycoprotein hormon... ORPHA:90674
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Goiter, Thyroid nodule, Multinodular goiter OMIM:180295
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th... OMIM:616050
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Polyuria, Aminoaciduria, Hepatomegaly, Hypercalciuria, Calci... OMIM:239200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Hypertriglyceri... OMIM:613101
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegal... ORPHA:848
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Abnormality of iron homeostasis, Decreased mean corpusc... ORPHA:231214
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Hypothyroidism, Abnormal cerebral white matter morphology, Hashimoto thyroiditis, Abnorma... ORPHA:83601
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... OMIM:237800
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:618495
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Joubert Syndrome 26
Panhypopituitarism, Central hypothyroidism, Decreased response to growth hormone stimuation test OMIM:616784
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Pituitary Hormone Deficiency, Combined, 2
Panhypopituitarism, Hypothyroidism, Adrenal insufficiency, Reduced circulating prolactin concentr... OMIM:262600
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Exocrine pancreatic insufficiency, E... ORPHA:1667
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Pericardial effusion, Neutropenia, Fetal ascites, C... ORPHA:292
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Anemia, Hype... OMIM:603278
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Hypophosphatasia
Hypercalcemia, Irritability, Anemia ORPHA:436
Galactosemia Iii
Aminoaciduria, Hypergalactosemia, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Endocardial fibroelastosis, Impa... OMIM:619313
Congenital Disorder Of Glycosylation, Type Ih
Abnormal heart morphology, Cholestasis, Thrombocytopenia, Hepatomegaly, Decreased liver function,... OMIM:608104
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Azoospermia, Glucose intolerance, Elevat... OMIM:235200
Trimethylaminuria
Depression, Neutropenia, Anemia, Splenomegaly, Trimethylaminuria OMIM:602079
Gne Myopathy
Limited wrist extension, Facial palsy, Hypothyroidism, Limited shoulder movement ORPHA:602
Non-Acquired Panhypopituitarism
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Decr... ORPHA:90695
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Sitosterolemia 1
Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticu... OMIM:210250
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Low-set ears, Hypothyroidism, Sensorineural hearing impairment, Posteriorly rotated ears OMIM:617763
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Vacuolated lymphocytes, Pericardial effusion, Neutr... ORPHA:167
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Pericardial effusion, Hypoalb... ORPHA:90362
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Hemophagocytosis, Increased circulating ferritin concentration, Elevat... ORPHA:540
Congenital Hypothyroidism
Goiter, Hypothyroidism, Umbilical hernia, Abnormality of reproductive system physiology, Abnormal... ORPHA:442
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Hypercalcemia, Anemia, Proteinuria ORPHA:2668
Immunodeficiency 31C
Osteopenia, Delayed puberty, Diabetes mellitus, Hypothyroidism OMIM:614162
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Ventricular septal defect, Hepatomega... ORPHA:1655
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Thyroiditis, Hypothyroidism, Hearing... OMIM:615108
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Hypoplasia of ... ORPHA:181393
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Lymphangiectasis, Hypoa... OMIM:602579
Cog4-Cdg
Hypercholesterolemia, Cirrhosis, Fatal liver failure in infancy, Elevated hepatic transaminase, T... ORPHA:263501
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Microcytic anemia, Hepatic steatosis, Hypertriglyceridemia, Hypoal... OMIM:619013
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Renal insufficienc... ORPHA:650
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Lymphopenia, Chylous ascites, Abnormality of the lymphatic system ORPHA:90363
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Omphalocele, Impaired sensitivity to thyroid hormone, Congenital hypothyro... OMIM:614450
Ravine Syndrome
Failure to thrive, Abnormal auditory evoked potentials, Abnormality of the basal ganglia, Decreas... ORPHA:99852
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalciuria, Phosphoethanolaminur... OMIM:241500
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Infertility, Decreased circulating ACTH level, Amenorrhea, Decreased testicul... ORPHA:95619
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Craniosynostosis, Increased circulating T4 level, Graves disease, ... ORPHA:525731
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Chronic noninfectious lymphadenopathy, Neoplasm of the thym... ORPHA:97289
Nephrotic Syndrome, Type 14
Mental deterioration, Focal segmental glomerulosclerosis, Lymphopenia, Hypoglycemia, Hypertriglyc... OMIM:617575
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Oculoskeletodental Syndrome
Hypocalcemia, Mucopolysacchariduria, Hepatomegaly, Hypercalciuria, Hypercalcemia, Splenomegaly OMIM:618440
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Liver abscess, Abnormality of the pancreas, Elevated circulating C... ORPHA:54251
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Thyroiditis, Hypothyroidism, Hearing... OMIM:615109
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hemobilia, Emotional lability, Jaundice, Hypercalcemia, H... ORPHA:88673
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Weight loss, Nodular goiter ORPHA:142
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Johanson-Blizzard Syndrome
Hypoproteinemia, Exocrine pancreatic insufficiency, Dextrocardia, Abnormality of the pancreas, Hy... ORPHA:2315
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Basal ganglia calcific... OMIM:612462
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Progressive neurologic deterioration, Abnormality of the hepatic vasculature, Depression, Nodular... ORPHA:247691
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Low-set, posteriorly rotated ears, Hypothyroidism, Delayed puberty, Micr... ORPHA:2994
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Castleman Disease
Ureteral obstruction, Abdominal mass, Hematuria, Restrictive cardiomyopathy, Generalized lymphade... ORPHA:160
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Hepatic steatosis,... ORPHA:528
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Primary amenorrh... ORPHA:95496
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Congenital Toxoplasmosis
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, As... ORPHA:858
X-Linked Sideroblastic Anemia
Glucose intolerance, Elevated hepatic transaminase, Abnormality of iron homeostasis, Anemia, Sple... ORPHA:75563
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Hypomethioninemia, Methylmalonic aciduria, Methylmalonic acidemia, Increase... OMIM:277410
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatitis, Renal insufficie... ORPHA:79312
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Hypoplastic helices, Hypothyroidism, Recurrent otitis media, Flexion contracture, EEG... ORPHA:391372
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Atrial septal defect, Dilated cardiomyopathy, Patent foramen ovale... ORPHA:26793
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Thrombocytopenia, Acute myeloid leukemi... ORPHA:86839
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... OMIM:612885
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Craniosynostosis, Obesity ORPHA:88643
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary hypothyroidism, Anterior pituitary hypoplasia, Delayed puberty, Decreased testicular si... ORPHA:95494
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty, Decreased skull ossification ORPHA:52022
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Hawkinsinuria
Hypothyroidism, Failure to thrive ORPHA:2118
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Vertigo, Adrenocorti... ORPHA:91349
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Abnormality of the pinna, Cerebral cortical atrophy, Congenita... ORPHA:352530
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Osteolysis, Osteolysis involving bones of the upper limbs, Papilledema, Omphalocele... ORPHA:371428
Familial Hyperprolactinemia
Osteoporosis, Infertility, Oligomenorrhea, Amenorrhea, Hemorrhagic ovarian cyst, Female hypogonad... ORPHA:397685
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Por... OMIM:616278
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Infertility, Cirrhosis, Abnormality of iron homeost... ORPHA:465508
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, H... OMIM:259720
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Enlarged kidney, Focal segmental glomerulosclerosis, Macrovesicular hepatic... OMIM:617303
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Mastocytosis
Chronic leukemia, Hepatomegaly, Hypercalcemia, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperparathyroidism 2 With Jaw Tumors
Recurrent pancreatitis, Hypercalcemia, Polycystic kidney dysplasia, Nephrolithiasis, Pancreatic a... OMIM:145001
Dengue Fever
Hypoproteinemia, Thrombocytopenia, Hepatomegaly, Ascites, Leukopenia ORPHA:99828
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Diamond-Blackfan Anemia 7
Horseshoe kidney, Ventricular septal defect, Secundum atrial septal defect, Neutropenia, Vesicour... OMIM:612562
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Basal ganglia calcific... OMIM:103580
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Hemimegalencephaly, Thyroiditis, Hyp... OMIM:158350
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Hypothyroidism OMIM:264300
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Reduced subcutaneous adipose tissue, Lipoatrophy, ... ORPHA:280356
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Coproporphyria, Hereditary
Depression, Hepatomegaly, Jaundice, Anxiety, Splenomegaly, Increased urinary porphobilinogen, Ele... OMIM:121300
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative ... ORPHA:251004
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Pulmonic stenosis, Aortic valve stenosis, Infantile hypercalcemia, Neph... OMIM:143880
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 level, Reduced TSH response to thyrotrophin-releasing hormone stimulatio... OMIM:618573
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Delayed proximal femoral epiphys... ORPHA:90673
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pr... OMIM:618892
Immunodeficiency 8
Lymphopenia OMIM:615401
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Hypoalbuminemia... ORPHA:367
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Allan-Herndon-Dudley Syndrome
Prominent antihelix, Macrotia, Hypothyroidism, Flexion contracture, Elevated circulating thyroid-... OMIM:300523
Galloway-Mowat Syndrome 6
Hypothyroidism, Microcephaly, Decreased body weight, Decreased response to growth hormone stimuat... OMIM:618347
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Hypoglycemia, Normocytic anemi... ORPHA:199299
Majeed Syndrome
Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased mean corpusc... OMIM:609628
Immunodeficiency 40
Lymphopenia OMIM:616433
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Elevated hepatic transaminase, Leukocy... ORPHA:91547
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... OMIM:207750
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepat... OMIM:300635
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia, Elevated hepatic transaminase, Leukocytosis, Abnormal pericardium morphology, Th... ORPHA:340
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Cardiomegaly, ... OMIM:269920
Mccune-Albright Syndrome
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Craniofa... OMIM:174800
Sandhoff Disease
Hepatomegaly, Progressive psychomotor deterioration, Motor deterioration, Splenomegaly ORPHA:796
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Conductive hearing impairment, Cupped ear, Euthyroid goiter, Stenosis ... OMIM:113650
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Panhypopituitarism, Hypothyroidism, Hypoplasia of the corpus callosum, Lipodystrophy, Cerebral at... OMIM:618922
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Adamantinoma
Hypercalcemia ORPHA:55881
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Wide anterior fontanel, Decreased circulating T4 level, Umbilical hernia, Abnormality of thyroid ... ORPHA:95715
Alstrom Syndrome
Progressive sensorineural hearing impairment, Hyperinsulinemia, Multinodular goiter, Hypergonadot... OMIM:203800
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Hyperlipidemia... ORPHA:79477
Adult-Onset Still Disease
Pericarditis, Elevated hepatic transaminase, Leukocytosis, Myocarditis, Generalized lymphadenopat... ORPHA:829
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly OMIM:611762
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Glucose intolerance, Insulin resistance, Impaired glucose tolerance, Hypert... OMIM:606721
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Elevated circulating creatinine concentration, Dextrocardi... OMIM:613095
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Osteoporosis, Decreased female libido, Osteopenia, Pit... ORPHA:91348
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Non-Functioning Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Elevated urinary epinephri... ORPHA:94080
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Hypothyroidism, Cryptorchidism, Infertility ORPHA:752
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:300385
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Hypercalcemia, Micropenis, Hypospadias OMIM:614732
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... OMIM:613179
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia ORPHA:664
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Hypoalbuminemia, Ascites OMIM:226300
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia, Lymphadenopathy OMIM:212050
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Ddost-Cdg
Osteopenia, Failure to thrive, Lipodystrophy, Primary hypothyroidism ORPHA:300536
Athyreosis
Thyroid agenesis, Hypothyroidism ORPHA:95713
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Poems Syndrome
Sclerosis of hand bone, Primary adrenal insufficiency, Hypothyroidism, Erectile dysfunction, Lipo... ORPHA:2905
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Macrotia, Hypothyroidism, Hypoplasia of the corpus callosum, Decreased body weight,... ORPHA:391408
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Depression, Hypercalcemia, Pancreatitis, Parath... OMIM:600740
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Cardiomyopathy, Splenomegaly OMIM:608540
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Nephrotic Syndrome, Type 1
Hypoproteinemia, Glomerular sclerosis, Hypoalbuminemia, Renal insufficiency, Diffuse mesangial sc... OMIM:256300
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Jaundice, Hypoproteinemia, Aggressive behavior OMIM:608093
Addison Disease
Thiamine-responsive megaloblastic anemia, Decreased circulating cortisol level, Hyponatremia, Hyp... ORPHA:85138
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Elevated hepatic transaminase, Elevated creatine kinase after exercise, Hype... ORPHA:284426
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Anemia, Hep... OMIM:607115
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circulating free ... ORPHA:99832
Mcleod Syndrome
Personality disorder, Dilated cardiomyopathy, Depression, Abnormal erythrocyte morphology, Anxiet... OMIM:300842
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal cerebral white matter morphology, Absent brainstem auditory responses, Sensorineural hea... OMIM:617519
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Panhypophysitis
Pituitary hypothyroidism, Abnormality of the posterior pituitary, Sensorineural hearing impairmen... ORPHA:95513
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concen... OMIM:218700
Hypothyroidism, Congenital, Nongoitrous, 4
Congenital hypothyroidism, Omphalocele, Wide anterior fontanel, Umbilical hernia OMIM:275100
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Infantile hypercalcemia, Rena... ORPHA:99879
Coach Syndrome 2
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hepatic fibrosis, C... OMIM:619111
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Acute tubulointerstitial... OMIM:607665
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism, Umbilical hernia ORPHA:2349
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Oligomenorrhea, Insulin resistance, Hepatic steatosis, Hyperuricemi... ORPHA:79083
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Macrotia, Hypothyroidism, Hypoplasia of the corpus callosum, Delayed puberty, Hea... OMIM:616817
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated hepatic transaminase, Elevat... OMIM:614817
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Xanthelasma, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Psyc... ORPHA:275761
Developmental And Epileptic Encephalopathy 90
Hypothyroidism, EEG with burst suppression, Cerebral atrophy, Hypsarrhythmia OMIM:301058
Multiple Endocrine Neoplasia, Type Iib
Parathyroid hyperplasia, Joint laxity, Nodular goiter, Pheochromocytoma, Aganglionic megacolon, F... OMIM:162300
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, L... OMIM:616733
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, ... ORPHA:85414
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Orthostatic hypotension,... ORPHA:95512
Pearson Syndrome
Hypocalcemia, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Anemia, Hypomagnes... ORPHA:699
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
X-Linked Agammaglobulinemia
Hypocalcemia, Neutropenia, Thrombocytopenia, Hepatitis, Recurrent cutaneous abscess formation, An... ORPHA:47
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia, Cystinuria, Hypogonadism, Nephrolithiasis ORPHA:163693
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:98754
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis,... OMIM:212065
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Increased serum pyruvate, Hyperalaninemia, Splenomegaly, Hyperprolinemia, ... OMIM:619046
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Babesiosis
Hemolytic anemia, Depression, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly,... ORPHA:108
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Infertility, Corpus callosum atrophy, Oligomenorrhea, Hypothyroidism, Abnormal motor evoked poten... ORPHA:412057
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:615573
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Focal segmental glomerulosclerosis, Ventricular septal defect, Hypoalbumine... OMIM:616730
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Hepatomegaly,... OMIM:618278
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Albuminuria, Abnormal heart morphology, Autonomic ere... ORPHA:85443
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Gaucher Disease, Type Iii
Progressive neurologic deterioration, Dementia, Depression, Pancytopenia, Thrombocytopenia, Hepat... OMIM:231000
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:98793
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Pulmonic stenosis, Metrorrhagia, Infantile hypercalcemia, ... ORPHA:96168
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Chronic kidney disease, Hypoalbuminemia, Nephrotic... OMIM:614131
Acute Adrenal Insufficiency
Renal insufficiency, Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Renal sal... ORPHA:95409
Oculocerebrodental Syndrome
Hypocalcemia, Nephrocalcinosis, Hypercalcemia ORPHA:557003
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Hypothyroidism, Ca... OMIM:610755
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Decreased circulating parathyroid hormone level, Male hypogonadism, Primary ad... OMIM:240300
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Fanconi Anemia, Complementation Group I
Agenesis of corpus callosum, Absent septum pellucidum, Conductive hearing impairment, Hypothyroid... OMIM:609053
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:177904
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Microscopic hematuria, Chronic kidney disease, Hypoalbuminemia, Stage 5 chro... ORPHA:54370
Aregenerative Anemia
Erythroid hypoplasia, Dementia, Fatigable weakness of skeletal muscles, Depression, Decreased pro... ORPHA:101096
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Exocrine ... ORPHA:456312
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:177901
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Hypercholesterolemia, Leukocytosis, Left ventricular hypert... ORPHA:90065
Griscelli Syndrome
Abnormality of neutrophils, Abnormal circulating lipid concentration, Thrombocytopenia, Jaundice,... ORPHA:381
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis, Hypercalcemia OMIM:239199
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Xanthelasma, Hyperuricemia, Anemia, Hyperlipidemia, Enlarged kidney, Nephro... ORPHA:79259
Hyperthyroidism, Familial Gestational
Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Leukope... ORPHA:2298
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Potocki-Lupski Syndrome
Hypothyroidism, Hypoplasia of the corpus callosum, Hearing impairment, Small for gestational age,... OMIM:610883
Wilson Disease
Acute hepatitis, Abnormality of the menstrual cycle, Cirrhosis, Aggressive behavior, Elevated hep... ORPHA:905
Lig4 Syndrome
Cryptorchidism, Amenorrhea, Hypothyroidism, Failure to thrive, Microcephaly OMIM:606593
Glucagonoma
Increased circulating cortisol level, Extrahepatic cholestasis, Depression, Abnormal abdomen morp... ORPHA:97280
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Atrial septal defect, Neutropenia OMIM:614868
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Increased circulating chylomicron concentration, Jaundice... OMIM:238600
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Sensorineural hearing impairment OMIM:617713
Sim1-Related Prader-Willi-Like Syndrome
Osteoporosis, Infertility, Cryptorchidism, Abdominal obesity, Premature pubarche, Premature adren... ORPHA:398079
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplas... ORPHA:226307
Trichohepatoenteric Syndrome 1
Cirrhosis, Thrombocytosis, Abnormality of iron homeostasis, Ventricular septal defect, Increased ... OMIM:222470
Vipoma
Increased circulating cortisol level, Extrahepatic cholestasis, Abnormal abdomen morphology, Intr... ORPHA:97282
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reti... OMIM:274150
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Patent foramen ovale, Tetral... OMIM:601005
Intellectual Disability-Strabismus Syndrome
Cryptorchidism, Hypohidrosis, Agenesis of corpus callosum, Congenital finger flexion contractures... ORPHA:363528
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240