Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

E2F transcription factor 1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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

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 E2f1 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 E2f1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Li-Fraumeni Syndrome
Prostate neoplasm, Colon cancer, Adrenocortical carcinoma, Breast carcinoma, Osteosarcoma, Lung a... OMIM:151623
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Perlman Syndrome
Broad alveolar ridges, Hyperinsulinemia, Cryptorchidism, Open mouth, Abnormal pancreas morphology... ORPHA:2849
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Abnormal sperm morphology, Female hypogon... ORPHA:52901
Palmar neurofibromas, Symmetric spinal nerve root neurofibromas, Plexiform neurofibroma, Neoplasi... ORPHA:252183
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion, Squamous cell carcinoma, Neoplasm ORPHA:1221
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Lymphadenopathy, Otitis media, ... OMIM:608971
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Splenomegaly, Hepatomegaly, Pleural effus... OMIM:235200
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Abnormality of reproductive system physiolog... ORPHA:1501
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Lymphoma, Hodgkin lymphoma, Postprandial hyperglycemia, Abnormal o... ORPHA:2298
Bone Marrow Failure Syndrome 5
Anemia, Pure red cell aplasia, Hypogonadism, Testicular atrophy OMIM:618165
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration, Abnormal flash visual evoked pote... OMIM:618195
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Neoplasia of the pleura, Abnormal prostate morphology, Weight loss, Soft tissue neo... ORPHA:2126
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, S... ORPHA:444463
Mccune-Albright Syndrome
Irregular menstruation, Cholestasis, Abnormality of the thyroid gland, Increased circulating prol... ORPHA:562
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, T lymphocytopenia, Sinusitis, Recurrent otitis media, Recurrent pneumonia, Absence ... ORPHA:277
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Macroglossia, Failure to thrive... ORPHA:99886
Igg4-Related Submandibular Gland Disease
Eosinophilia, Abnormal salivary gland morphology, Cholangitis, Enlarged lacrimal glands, Abnormal... ORPHA:449432
Glycosuria, Exocrine pancreatic insufficiency, Large for gestational age, Neonatal hypoglycemia, ... ORPHA:552
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormality of visual evoked potentials, Ap... ORPHA:827
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hypogonadotropic hypogonadism, Infertility, Portal hypertension, Amenorrhea, Chol... ORPHA:465508
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Autoimmunity, Decreased specific pneumococcal antibody level, Colitis, I... OMIM:617006
Brooke-Spiegler Syndrome
Multiple cutaneous malignancies, Cylindroma, Salivary gland neoplasm, Basal cell carcinoma, Abnor... ORPHA:79493
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Cernunnos-Xlf Deficiency
Autoimmunity, T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, High palat... OMIM:308750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, High palat... OMIM:308700
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Colitis, Splenomegaly, Chronic diarrhea, Lymphadenopathy,... OMIM:619164
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Testicular atrophy OMIM:613987
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Congenital diaphragmatic hernia, Testicular atrophy, Omphalocele, Pulmona... OMIM:601163
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Lipoatrophy, Hepatom... ORPHA:79084
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Abnormality of the mouth, Decreased fertility, Testicular atrophy OMIM:313200
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, In... OMIM:618495
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Infertility, Hepatic steatosis, Loss of gluteal subcu... ORPHA:280356
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, Panhypogammaglobulinemia, B lymp... OMIM:601457
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Acne inversa, ... OMIM:618204
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Failure to thrive, Neonatal insulin-dep... OMIM:260370
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Pneumonia, Decreased cir... OMIM:300400
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Renal neoplasm, Adenoma sebaceum, Colon cancer, Breast carci... ORPHA:587
Aarskog-Scott Syndrome
Cleft upper lip, Cryptorchidism, Elevated circulating luteinizing hormone level, Hypodontia, Decr... OMIM:305400
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Hepatosplenomegaly, Rheumatoid factor positive, Lymphade... OMIM:618935
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Central a... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Central a... ORPHA:71526
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
Irregular menstruation, Neuroectodermal neoplasm, Increased serum testosterone level, Neoplasm of... ORPHA:180229
Tumor Predisposition Syndrome
Lung adenocarcinoma, Cutaneous melanoma, Meningioma, Uveal melanoma, Renal cell carcinoma OMIM:614327
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Pneumonia, Decreased circulating cortisol level, Breast carcinoma, Abnormality of f... ORPHA:90790
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Reduced subcutaneous adipose tissue, Failure to thrive, Diab... OMIM:609069
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgG level, Antimitoch... OMIM:610163
Bazex Syndrome
Liposarcoma, Lip hyperpigmentation, Lung adenocarcinoma, Neoplasm ORPHA:166113
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology ORPHA:482
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Testicular atrophy OMIM:160900
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue, Hepatic am... ORPHA:314652
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hep... OMIM:614470
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Hepatomegaly, Anemia, Pancreatitis, Dehydration, Thrombocytopenia ORPHA:27
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-dsDNA antibody positivity, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Gl... OMIM:619375
Intellectual Developmental Disorder, X-Linked 2
High palate, Macroorchidism OMIM:300428
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Inflammation of the large intestine, Bro... OMIM:618108
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Diabetes mellitus, Testicular atrophy OMIM:222300
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... OMIM:247800
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Elevated proport... OMIM:601859
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Polycystic ovaries, Cryptorchidism, Obesity, Secondary amenorrhea, Typ... ORPHA:3085
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Dehydration, Thrombocytopenia ORPHA:79312
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Primary amenorrhea, Insulin resistance, Loss of gluteal subcuta... OMIM:604367
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomeg... ORPHA:231154
Fanconi Renotubular Syndrome 5
Glycosuria, Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hype... OMIM:246200
Legius Syndrome
Multiple lipomas, Male urethral meatus stenosis, Ovarian neoplasm, Desmoid tumors, Non-small cell... ORPHA:137605
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276580
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Immunodeficiency 13
T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Decreased CD4:CD8 ratio, Decrease... OMIM:615518
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnorma... ORPHA:79644
Ebola Hemorrhagic Fever
Acute pancreatitis, Nausea, Leukopenia, Gastrointestinal hemorrhage, Maculopapular exanthema, Thr... ORPHA:319218
Tropical Pancreatitis
Weight loss, Jaundice, Chronic calcifying pancreatitis, Pancreatic calcification, Abnormal pancre... ORPHA:103918
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Obesity, Hypoplasia of penis, Type II diabetes melli... ORPHA:791
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Obesity, Maxillary lateral incisor microdontia, Macroorchidism, Abno... ORPHA:1193
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Neo... ORPHA:324575
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Autoimmunity, Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Septic art... OMIM:617780
Endocardial Fibroelastosis
Hypoglycemia, Abnormal palate morphology, Cryptorchidism, Anterior hypopituitarism, Hypoplasia of... ORPHA:2022
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
Mehmo Syndrome
Hypoglycemia, Long philtrum, Delayed puberty, Drooling, Micropenis, Open mouth, Small for gestati... OMIM:300148
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Membranous nephropathy, Recurr... OMIM:615559
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276575
Immunodeficiency 31C
Autoimmunity, Hypothyroidism, Autoimmune hemolytic anemia, Eczema, Lymphopenia, Diarrhea, Chronic... OMIM:614162
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Intestinal malrotation, Pancreatic hypoplasia, Jejunal atresia, ... OMIM:615710
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Igg4-Related Thyroid Disease
Hypothyroidism, Thyrotoxicosis with diffuse goiter, Sclerosing cholangitis, Euthyroid goiter, Has... ORPHA:64744
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Tubulointerstitial nephritis, Hepatomegaly, Pancreatitis, Dehydration, Thrombocytopen... OMIM:251000
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity, Thick lower lip vermilion, Macroorchidism OMIM:300238
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Enlarged lacrimal glands, Retroperitoneal fibrosis, Thyroidit... ORPHA:79078
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportio... OMIM:300853
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Polycystic ovaries, Abnormality ... ORPHA:1227
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Benign Schwannoma
Abnormality of the liver, Schwannoma, Peripheral Schwannoma, Abnormal esophagus morphology, Scler... ORPHA:252164
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
17Q11.2 Microduplication Syndrome
Thin vermilion border, Abnormal dental enamel morphology, Macroorchidism, Enamel hypoplasia ORPHA:139474
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Chronic diarrhea, Hepatomegaly, Pancreatitis OMIM:618805
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Retinal Detachment
Retinal detachment OMIM:180050
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Achilles tendon contracture, Exocrine pancreatic insufficiency, Hypothyroidism, Contractures invo... ORPHA:456312
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Esophagitis, Neuroendoc... ORPHA:276152
Carney Complex
Abnormal hard palate morphology, Testicular adrenal rest tumor, Abnormal morphology of female int... ORPHA:1359
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia ORPHA:228312
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy, Abnor... OMIM:618987
Systemic Capillary Leak Syndrome
Leukocytosis, Myocarditis, Pancreatitis, Pleural effusion, Pedal edema, Pericarditis, Diarrhea, P... ORPHA:188
Matthew-Wood Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Abnormality of the uterus, Abnormal spleen morph... ORPHA:2470
Hereditary Chronic Pancreatitis
Pancreatic calcification, Leukocytosis, Recurrent pancreatitis, Jaundice ORPHA:676
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Decreased circ... OMIM:228300
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Maxillary lateral incisor m... OMIM:300602
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Iron defici... OMIM:603909
Congenital Pancreatic Cyst
Vomiting, Jaundice, Pancreatitis ORPHA:313906
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Intra-oral hyperpigmentation, Pancreatic endocrine tumor, Increased ci... ORPHA:99889
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Precocious puberty in females, Insulin resistance, Hyperinsulin... ORPHA:528
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmunity, Decreased circulating IgG level, Leukopenia, Autoimmune hemolytic ane... OMIM:613011
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Delayed eruption of teeth, Everted lower li... ORPHA:181393
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Primary amenorrhea, Hyperinsulinemia, Decreased ser... ORPHA:66628
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmunity, T lymphocytopenia, Sclerosing cholangitis, Sinusitis, Abnormal CD4:CD... ORPHA:572
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Maxillary lateral incisor m... OMIM:300431
Hypothyroidism, Diabetes insipidus, Scarring, Abnormality of the adrenal glands, Abnormal reprodu... ORPHA:797
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Autoimmunity, Abnormal circulating interleukin... ORPHA:158061
Igg4-Related Ophthalmic Disease
Eosinophilia, Non-Hodgkin lymphoma, Abnormality of the anterior pituitary, Colon cancer, Lymphoma... ORPHA:449563
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Primary amenorrhea, Hyperinsulinemia, Decreased ser... ORPHA:179494
Immunodeficiency 36
Autoimmunity, Splenomegaly, Chronic diarrhea, Decreased circulating antibody level, Bronchiectasi... OMIM:616005
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Cellulitis, Pneumonia, Parotitis, Lung abscess, Prostatitis, Respiratory tract infection, Hepatit... ORPHA:31202
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Hepatosplenomegaly, Increased circulating IgG level, Increased proportion... OMIM:618982
Coloboma Of Macula
Macular coloboma OMIM:120300
Chylous Ascites
Ascites, Lymphedema, Pancreatitis ORPHA:1160
Maffucci Syndrome
Multiple enchondromatosis, Sarcoma, Neoplasm of the adrenal cortex, Chondrosarcoma, Hemangiomatos... ORPHA:163634
Neuroblastoma, Intestinal malrotation, Pancreatic hypoplasia, Meckel diverticulum, Abnormality of... ORPHA:1666
Immunodeficiency 22
Autoimmunity, Panniculitis, Decreased proportion of CD4-positive helper T cells, Diarrhea OMIM:615758
Progressive Osseous Heteroplasia
Sarcoma, Abnormality of the parathyroid gland ORPHA:2762
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Portal hypertension, Long philtrum, Pancreatic cysts, Cholestasis, Pancreatic hypo... OMIM:610199
Xp22.13P22.2 Duplication Syndrome
High palate, Recurrent upper respiratory tract infections, Polycystic ovaries, Congenital diaphra... ORPHA:284180
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Recurrent sinusitis, Atopic dermatitis, Chronic otitis media, B lym... ORPHA:217390
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Sarcoma, Melanoma, Oropharyngeal squamous cell carcinoma, Pancreatic ade... OMIM:606719
Legionnaires Disease
Bone marrow hypocellularity, Infectious encephalitis, Endocarditis, Splenomegaly, Myocarditis, Ja... ORPHA:549
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
Intellectual Developmental Disorder, X-Linked, Syndromic 13
High palate, Flexion contracture, Drooling, Excessive salivation, Obesity, Macroorchidism, Male h... OMIM:300055
Cancer-Associated Retinopathy
Malignant genitourinary tract tumor, Colon cancer, Small cell lung carcinoma, Neoplasm of the bre... ORPHA:71505
Chilblain Lupus
Rheumatoid factor positive, Chronic myelomonocytic leukemia, Antiphospholipid antibody positivity... ORPHA:90280
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, High palate, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small f... OMIM:262190
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Macroorchidism, Long penis, Truncal obesity ORPHA:2477
Steinert Myotonic Dystrophy
Colon cancer, Tented upper lip vermilion, Ovarian carcinoma, Impotence, Male hypogonadism, Diabet... ORPHA:273
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Lower lip pit, Hypodontia, Lip pit, Cleft pa... ORPHA:888
Asbestos Intoxication
Pleural thickening, Lung adenocarcinoma, Interlobular septal thickening, Pulmonary fibrosis, Mali... ORPHA:2302
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent otitis media, Leukope... OMIM:618986
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Abnormal intestine morphology, Hyperinsulinemia OMIM:606528
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Adrenocorticotropic hormone deficiency, Ovarian cyst, Oligosperm... ORPHA:91348
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Pancreatic hypoplasia, Failure to thrive, Neonatal insulin-dependent diabetes mellitu... ORPHA:99885
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, ... ORPHA:79086
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Lujan-Fryns Syndrome
Short philtrum, High palate, Camptodactyly of finger, Dental crowding, Macroorchidism, Abnormalit... ORPHA:776
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Desmoplastic Small Round Cell Tumor
Ileus, Sarcoma, Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Neoplasm of the central nerv... ORPHA:83469
Intellectual Developmental Disorder, X-Linked 21
Open mouth, Macroorchidism, Dental crowding, Tented upper lip vermilion OMIM:300143
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Autoimmunity, Decreased circulating IgG level, Decreased proportion of CD3-positive... ORPHA:331206
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Propionic Acidemia
Pancytopenia, Constipation, Hepatomegaly, Neutropenia, Anemia, Eczema, Pancreatitis, Dehydration,... OMIM:606054
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Hash... ORPHA:275
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Excessive insulin response to glucagon test, Re... ORPHA:276556
Martinez-Frias Syndrome
Intestinal hypoplasia, Intestinal malrotation, Pancreatic hypoplasia, Tracheoesophageal fistula, ... OMIM:601346
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Polycystic ovaries, Loss ... OMIM:151660
X-Linked Intellectual Disability, Shashi Type
Obesity, Everted lower lip vermilion, Macroorchidism ORPHA:85286
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss, Abnormality of the peritoneum ORPHA:2023
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Pneumonia, Cholangitis, Th... OMIM:619652
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Bone marrow hypocellularity, Acute myeloid leukemia, Systemic lupus eryt... OMIM:616871
Werner Syndrome
Slender build, Aplasia/Hypoplasia of the testes, Cutaneous melanoma, Meningioma, Chondrocalcinosi... ORPHA:902
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Lymphocytosis ORPHA:79087
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Autoimmunity, Recurrent cutaneous abscess formation, Pneumonia, S... ORPHA:229717
Immunodeficiency 70
Decreased circulating total IgM, Achalasia, Colitis, Decreased circulating total IgG, Decreased p... OMIM:618969
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiology, Hypothyroidism, ... ORPHA:93111
Li-Fraumeni Syndrome
Central primitive neuroectodermal tumor, Neoplasm of the gastrointestinal tract, Colon cancer, Ad... ORPHA:524
Infantile Myofibromatosis
Sarcoma, Fibroma, Gingival fibromatosis, Tracheoesophageal fistula, Benign neoplasm of the centra... ORPHA:2591
Mitochondrial Complex I Deficiency, Nuclear Type 8
Dysphagia, Pancreatitis OMIM:618230
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Partington Syndrome
Macroorchidism ORPHA:94083
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
X-Linked Intellectual Disability, Snyder Type
Narrow mouth, High palate, Short philtrum, Cryptorchidism, Everted lower lip vermilion, Thick low... ORPHA:3063
Al Amyloidosis
Abnormal salivary gland morphology, Abnormality of the liver, Pulmonary interstitial high-resolut... ORPHA:85443
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Nonimmune hydrops fetalis, Impaired lymphocyte transformat... OMIM:619313
Immunodeficiency, Common Variable, 2
Autoimmunity, Recurrent otitis media, Recurrent pneumonia, Decreased circulating IgG level, Splen... OMIM:240500
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Small for gestational age, Hepatomegaly, Fail... ORPHA:79237
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Gastrointestinal hemorrhage, Abnormality o... ORPHA:543
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Recurrent skin infections, Abnormal natural killer cell count, ... OMIM:612260
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Chronic diarrhea, Jaundice, Cholestatic liver disease, Pancreatitis, Cirrhosis, H... ORPHA:65682
Nausea, Cholangitis, Decreased proportion of CD4-positive helper T cells, Prostatitis, Hepatitis,... ORPHA:2552
Pancreatic Agenesis 2
Pancreatic hypoplasia, Small for gestational age, Steatorrhea OMIM:615935
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Fat malabsorption, Pneumonia, Leukemia, Delayed eruption of te... ORPHA:811
Rat-Bite Fever
Lymphadenitis, Erythema nodosum, Parotitis, Arthritis, Vomiting, Maculopapular exanthema, Endocar... ORPHA:31205
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Bronchi... OMIM:150550
Systemic Lupus Erythematosus
Leukopenia, Arthritis, Antiphospholipid antibody positivity, Systemic lupus erythematosus, Hemoly... OMIM:152700
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hypothyroidism, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulato... OMIM:606367
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Hemophagocytosis, Increased circulating IgM level,... OMIM:308240
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Bone marrow hypocellularity, Abnormality of thyroid physiology, Abnormal proportion... ORPHA:1830
Immunodeficiency 7
Autoimmunity, Hypereosinophilia, Lymphadenopathy OMIM:615387
Aromatase Deficiency
Hepatic steatosis, Primary amenorrhea, Insulin resistance, Cryptorchidism, Obesity, Ambiguous gen... ORPHA:91
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Renal Cysts And Diabetes Syndrome
Glycosuria, Epididymal cyst, Hypoplasia of the uterus, Exocrine pancreatic insufficiency, Pancrea... OMIM:137920
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic steatosis, Flexion contracture, Hepatic fibrosis, Shawl scrotum, Hepatome... OMIM:616263
Kikuchi-Fujimoto Disease
Splenomegaly, Hepatomegaly, Pleural effusion, Oral ulcer, Enlargement of parotid gland, Weight lo... ORPHA:50918
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Decreased circulating IgG level, Uveitis, Rheumatoid factor positive, Autoimmune he... ORPHA:3261
Li-Fraumeni Syndrome 2
Sarcoma, Breast carcinoma, Meningioma, Stomach cancer, Glioma OMIM:609265
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
High palate, Neonatal hypoglycemia, Hypoglycemia, Decreased body weight, Small for gestational ag... ORPHA:231140
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Long philtrum, Cryptorchidism, Hepatomegaly, Failure to thrive OMIM:618958
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Macroorchidism ORPHA:3077
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
Cach Syndrome
Optic neuritis, Hepatosplenomegaly, Dysphagia, Pancreatitis, Premature ovarian insufficiency, Oli... ORPHA:135
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Decreased proportion of CD4-positive helper T cells, Eczema, Dec... OMIM:617241
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage OMIM:278760
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Primary amenorrhea, Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic h... OMIM:616033
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Pneumonia, ... ORPHA:911
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Hypoglycemia, Hepatoblastoma, Adrenocortical c... ORPHA:116
Gardner Syndrome
Hepatoblastoma, Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Thyroid n... ORPHA:79665
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Autoimmunity, Decreased proportion of CD3-positive T cells, Rheumatoid factor positive, Decreased... ORPHA:443811
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Autoimmunity, Leukocytosis, Hypothyroidism, Pneumon... ORPHA:39041
47,Xyy Syndrome
Varicocele, Cryptorchidism, Increased serum testosterone level, Azoospermia, Micropenis, Oligospe... ORPHA:8
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Retinal coloboma, Macular coloboma OMIM:107550
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Small for gestational age, External genital hypoplasia, Cleft palate, Hyperhidrosis ORPHA:231147
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Elbow flexion contracture, Azoospermia, Micropenis, Pancreatic hypoplasia, Sp... OMIM:602782
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy, Ab... OMIM:616648
Lesch-Nyhan Syndrome
Megaloblastic anemia, Dysphagia, Vomiting, Testicular atrophy OMIM:300322
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased circulating IgG level, Decreased proportion of C... ORPHA:276
Primary Pigmented Nodular Adrenocortical Disease
Irregular menstruation, Diabetes mellitus, Cutaneous myxoma, Increased circulating cortisol level... ORPHA:189439
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Sarcoma, Abnormal testis morphology, Polycystic ovaries, Abnormal calcium... ORPHA:457059
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Acute pan... ORPHA:178320
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Nausea, Bloody diarrhea, Leukocytosis, Pneumon... ORPHA:544482
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, G... ORPHA:363400
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Macroorchidism, Elevated circulating growth hormone... ORPHA:85327
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Igg4-Related Kidney Disease
Eosinophilia, Sclerosing cholangitis, Abnormality of the anterior pituitary, Cholecystitis, Inter... ORPHA:449395
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Cryptorchidism, Adrenocortical hy... OMIM:307030
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Recurrent otitis media, Pneumonia, Absent natural killer cells, Chronic diarrh... OMIM:600802
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmunity, Autoimmune hemolytic anemia, Autoimmune thrombocyto... ORPHA:100026
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmunity, Hypothyroidism, Hepatosplenomegaly, Achalasia, A... OMIM:615952
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Pancreatitis OMIM:619386
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Failure to thrive, ... OMIM:617872
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Hypoglycemia, Thyroid adenoma, Adenoma sebaceum, Pituitary prolactin cell ad... OMIM:131100
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Diabetes mellitus,... OMIM:167800
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Caroli Syndrome
Leukocytosis, Leukopenia, Portal hypertension, Cholangitis, Cholangiocarcinoma, Pancreatitis, Hep... ORPHA:480520
Fragile X Syndrome
Congenital macroorchidism, Macroorchidism, postpubertal OMIM:300624
Opsoclonus-Myoclonus Syndrome
Neuroblastoma, Melanoma, Breast carcinoma, Neoplasm, Neoplasm of the lung, Small cell lung carcin... ORPHA:1183
Silver-Russell Syndrome 1
Fasting hypoglycemia, Craniopharyngioma, Small for gestational age, Testicular seminoma, Congenit... OMIM:180860
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Hypoglycemia, Infertility, Amenorrhea,... ORPHA:95619
Gastrointestinal stroma tumor, Cellulitis, Lymphoma, Breast carcinoma, Lung adenocarcinoma, Abnor... ORPHA:221
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Port... ORPHA:79124
Immunodeficiency 81
Impaired neutrophil chemotaxis, Autoimmune hemolytic anemia, Abnormally low T cell receptor excis... OMIM:619374
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Hepatosplenomegaly, Part... ORPHA:35078
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Failure to thrive in infancy OMIM:232700
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsuline... ORPHA:263455
Unclassified Myelodysplastic Syndrome
Autoimmunity, Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Increased hepatic glycogen content, Hepatomegaly, Failure to thrive, Portal fibrosi... ORPHA:369
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Absence of pube... ORPHA:785
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Adrenal insufficiency, Hypoglycemic seizures, Decreased circulating dehydro... ORPHA:361
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Sclerosing cholangitis, Angular cheilitis, Hepatomegaly, Jaundice, Keratoconjunctivitis sicca, Pa... OMIM:260480
X-Linked Lymphoproliferative Disease
Pancytopenia, Autoimmunity, Decreased circulating IgG level, Histiocytosis, Absent natural killer... ORPHA:2442
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Thyroid nodule, Adenomato... ORPHA:247806
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
17Q12 Microdeletion Syndrome
Cryptorchidism, Shawl scrotum, Pancreatic aplasia, Diabetes mellitus ORPHA:261265
Fragile X Syndrome
Macroorchidism ORPHA:908
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Enamel hypoplasia, Failure to thrive, Macroorchidism, Bilateral cleft lip and palate... OMIM:618874
Selective Igm Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid art... ORPHA:331235
Igg4-Related Pachymeningitis
Eosinophilia, Sinusitis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Nephritis, D... ORPHA:449427
Ovarian Fibrothecoma
Abnormality of the endometrium, Ovarian fibroma, Abnormal circulating hormone concentration, Abno... ORPHA:314478
Rothmund-Thomson Syndrome, Type 2
High palate, Agenesis of permanent teeth, Squamous cell carcinoma, Delayed eruption of teeth, Sma... OMIM:268400
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmunity, Bloody diarrhea, Hematochezia, Leukocytosis, Agammaglobulinemia, Thrombocytosis, In... OMIM:243150
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis OMIM:619290
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Hypoglycemia, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus,... ORPHA:95496
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoked potentials ORPHA:141
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Hemophagocytosis, Splenomegaly, Anemia, Panniculitis, Facial edema OMIM:618398
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Bloody diarrhea, Leukocytosis, Peritonitis, Dehydration, Acute colitis, Pancreati... ORPHA:90038
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Recurrent pancreatitis, Parathyroid adenoma, Pancreatic adenocarcinoma, Hy... OMIM:145001
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Autoimmune Polyendocrinopathy Type 3
Autoimmunity, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Iridocy... ORPHA:227982
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow mouth, High palate, Flexion contracture, Hyperinsulinemia, Decreased adipose tissue around... OMIM:608612
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Cryptorchidism, Congenital hypothyroidism, Failure to thrive, Precocious puberty OMIM:614736
Mandibuloacral Dysplasia
High palate, Abnormal tongue morphology, Insulin resistance, Hyperinsulinemia, Increased subcutan... ORPHA:2457
Trisomy 20P
Short philtrum, Ectopic anus, Abnormal palate morphology, Camptodactyly of finger, Hernia, Crypto... ORPHA:261318
Autoimmune Polyendocrinopathy Type 4
Central diabetes insipidus, Autoimmunity, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Le... ORPHA:227990
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Small for gestational age, Hernia, Intestinal malrotation, Pan... ORPHA:2255
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Pancreatitis, Hepat... OMIM:600803
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:2348
Thymic Aplasia
Autoimmunity, T lymphocytopenia, Hypothyroidism, Pneumonia, Sinusitis, Coombs-positive hemolytic ... ORPHA:83471
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Contractures of the large joints, Everted lower lip vermilion, Macroorchidism, Smooth philtrum, P... ORPHA:324410
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Hepatomegaly, Pancreatitis OMIM:243300
Alstrom Syndrome
Hypothyroidism, Irregular menstruation, Hepatic steatosis, Diabetes insipidus, Hyperinsulinemia, ... OMIM:203800
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Hypoglycemia, Small for gestational age, Dysmenorrhea, Cryptorchidism, Hypospadia... ORPHA:397590
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Absent gallbladder, Intestinal malrotation, Pancreatic hypoplasia, Colon perforation,... OMIM:600001
Rabson-Mendenhall Syndrome
Hypothyroidism, Increased pineal volume, Macroglossia, Increased circulating androgen concentrati... ORPHA:769
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Neonatal hypoglycemia, Adrenocortical carcinoma, Cryptorchidism, Pancreatic hyper... OMIM:130650
Smith-Kingsmore Syndrome
Large for gestational age, Hypoglycemia, Long philtrum, Cryptorchidism, Open mouth, Smooth philtr... OMIM:616638
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Splenomegaly, Hepatomegaly, Pleural effusion, Lymphadenopathy, Pericarditis, Anteri... ORPHA:85414
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Dysphagia, Inflammatory abnormality of t... ORPHA:3260
Felty Syndrome
Abnormal lymphocyte morphology, Autoimmunity, Recurrent pneumonia, Sinusitis, Bone marrow hypocel... ORPHA:47612
Microscopic Polyangiitis
Autoimmunity, Sinusitis, Uveitis, Gastrointestinal hemorrhage, Arthritis, Peritonitis, Increased ... ORPHA:727
Familial Adenomatous Polyposis
Hypothyroidism, Hepatoblastoma, Neoplasm of the gastrointestinal tract, Colon cancer, Abnormality... ORPHA:733
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Central diabetes insipidus, Hypogonadotropic hypogonadism, Rectovaginal fistula, Cleft upper lip,... OMIM:129900
Bohring-Opitz Syndrome
Broad alveolar ridges, Cleft upper lip, Flexion contracture, Intestinal malrotation, Hyperechogen... OMIM:605039
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, T lymphocytopenia, Pneumonia, Increased circulating IgM level, Decreased circulating I... OMIM:242860
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Hepatosplenomegaly, Chronic diarrhea, Bronchiectasis, Eczematoid dermatitis,... OMIM:242700
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Abnormality of interleukin secretion, Decreased propor... ORPHA:101096
Distal Monosomy 12Q
Unilateral cryptorchidism, Long philtrum, Elbow flexion contracture, Failure to thrive in infancy... ORPHA:96149
Tenorio Syndrome
Hypoglycemia, Pneumonia, Macroglossia, Keratoconjunctivitis sicca, Stomatitis, Hypoinsulinemia OMIM:616260
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Chorioretinal coloboma, Iris coloboma, Retinal coloboma ORPHA:2921
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Pancreatitis, Cirrhosis ORPHA:79083
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Insulin-dependent but ketosis-resistant diabetes,... OMIM:608189
Sarcoidosis, Susceptibility To, 1
Emphysema, Abnormal salivary gland morphology, Elevated bronchoalveolar lavage fluid lymphocyte p... OMIM:181000
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema, Hepatic steatosis, Portal inflammation, Pancreatitis, Hepatocellular carcinoma, B... OMIM:603471
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Decreased circulating total IgM, Incre... OMIM:243700
Primary Sclerosing Cholangitis
Autoimmunity, Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Ascites, Pancreatitis... ORPHA:171
Sotos Syndrome
Hypothyroidism, Cryptorchidism, Hemangioma, Sacrococcygeal teratoma, Inguinal hernia, Neonatal hy... ORPHA:821
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Ollier Disease
Visceral angiomatosis, Multiple enchondromatosis, Sarcoma, Lymphangioma, Chondrosarcoma, Neoplasm... ORPHA:296
Primary Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Pancreatitis, Cirrhosis ORPHA:90970
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Irregular menstruation, Abnormal response to corticotropin releasing hormone s... ORPHA:189427
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia, Hypospadias OMIM:201910
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Failure to thrive in infancy, Cryptorchidism, External genital h... OMIM:176270
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Colitis, Splenomegaly, Hepatomegaly, Pancreatitis OMIM:615947
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Neonatal hypoglycemia, Hypoglycemic seizures, Panhypopitui... OMIM:262600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmunity, Hypothyroidism, Autoimmune hemolytic anemia, Iron deficiency anemia, Insulin recept... ORPHA:37042
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Decreased fertility in females, Hepatic steatosis, Acute pancreatitis, Hyperinsuli... OMIM:608594
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Central diabetes insipidus, Hypogonadotropic hypogonadism, Cleft upper lip, Absence of Stensen du... OMIM:604292
Atypical Werner Syndrome
Glycosuria, Neoplasm of the breast, Meningioma, Chondrocalcinosis, Neoplasm of the lung, Neoplasm... ORPHA:79474
Duodenal Atresia
Annular pancreas, Abnormality of the pulmonary artery, Abnormality of the pancreas, Duodenal atresia ORPHA:1203
Lacrimoauriculodentodigital Syndrome
Abnormal salivary gland morphology, Bifid uvula, Enamel hypoplasia, Cryptorchidism, Hypodontia, M... ORPHA:2363
Purine Nucleoside Phosphorylase Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmu... ORPHA:760
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Decreased fertility in females, Decreased fertility, Hepatic steatosis, Acute panc... OMIM:269700
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Aicardi-Goutieres Syndrome 9
Hepatic steatosis, Acute pancreatitis, Hepatosplenomegaly, Portal hypertension, Hypothyroidism, C... OMIM:619487
Hyperlipoproteinemia, Type I
Nausea, Hepatosplenomegaly, Splenomegaly, Jaundice, Pancreatitis, Vomiting OMIM:238600
Pancreatic Agenesis-Holoprosencephaly Syndrome
High palate, Absent gallbladder, Solitary median maxillary central incisor, Small for gestational... ORPHA:556955
Pleural empyema, Pancreatitis, Skin rash, Osteomyelitis, Granuloma, Pericarditis, Arthritis, Pneu... ORPHA:228123
Abnormal pancreas morphology, Diabetes mellitus, Elevated hepatic iron concentration ORPHA:48818
Estrogen Resistance
Primary amenorrhea, Hyperinsulinemia, Impaired glucose tolerance, Glucose intolerance, Hypoplasia... OMIM:615363
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Protein-losing enteropathy, Villous atrophy, Cirrhosis, Hepatic ... OMIM:602579
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Leukopenia, Leukocytosis, Thrombocytosis, Lipid accumulation in hepatocytes, ... ORPHA:20
Nausea, Gastrointestinal hemorrhage, Hepatitis, Hematemesis, Pancreatitis, Fasciitis, Diarrhea, A... ORPHA:73263
Treacher Collins Syndrome 1
Narrow mouth, Cryptorchidism, Cleft soft palate, Lacrimal duct stenosis, Abnormal parotid gland m... OMIM:154500
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
X-Linked Agammaglobulinemia
Autoimmunity, Recurrent pneumonia, Sinusitis, Arthritis, Agammaglobulinemia, Thrombocytopenia, Ch... ORPHA:47
Familial Mediterranean Fever
Erysipelas, Orchitis, Arthritis, Peritonitis, Constipation, Ascites, Splenomegaly, Osteoarthritis... ORPHA:342
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormality of visual evoked potentials, Abnormal retinal nerve fiber... ORPHA:1215
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly OMIM:608600
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Lysinuric Protein Intolerance
Nausea, Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Anemia, Pancreatitis, Thrombocy... OMIM:222700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Narrow mouth, Contracture of the distal interphalangeal joint of the fingers, Cry... ORPHA:83617
Von Hippel-Lindau Syndrome
Spinal hemangioblastoma, Epididymal cyst, Paraganglioma, Pulmonary capillary hemangiomatosis, Pap... OMIM:193300
Peripheral Primitive Neuroectodermal Tumor
Ascites, Jaundice, Ovarian neoplasm, Anemia, Pancreatitis, Neoplasm of the pancreas ORPHA:370348
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, High palate, Flexion contracture, Hyperinsulinemia, Increased facial adipose tissu... OMIM:248370
Igg4-Related Aortitis
Autoimmunity, Hypereosinophilia, Increased circulating IgG4 level, Increased inflammatory respons... ORPHA:449400
Marburg Hemorrhagic Fever
Nausea, Uveitis, Maculopapular exanthema, Pancreatitis, Lymphopenia, Diarrhea, Thrombocytopenia, ... ORPHA:99826
Triglyceride Deposit Cardiomyovasculopathy
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Inflammatory abnormality of the skin, Pancrea... ORPHA:565612
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Gastrointestinal hemorrhage, Myeloproliferative disorder, Hepatomegaly,... ORPHA:79456
Hyperglycemia, Hyperinsulinemia OMIM:616214
Cold Agglutinin Disease
Autoimmunity, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Diarrhea ORPHA:56425
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Central hypothyroidism, Cervical lymphadenopathy, Anemia, Perio... ORPHA:514
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Autoimmunity, Hypothyroidism, Hepatosplenomegaly, Portal hypertension, Cholangitis,... ORPHA:228426
Classic Galactosemia
Decreased fertility in females, Hypoglycemia, Primary amenorrhea, Cryptorchidism, Hepatomegaly, J... ORPHA:79239
Proteus Syndrome
Diabetes insipidus, Lymphangioma, Meningioma, Lipoma, Neoplasm of the lung, Capillary hemangioma,... ORPHA:744
Obesity Due To Sim1 Deficiency
Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Hypothyroidism, Portal hypertension, Hepatomegaly, Failure to thrive, Protein-losing enteropathy,... ORPHA:79319
Mixed Connective Tissue Disease
Autoimmunity, Myositis, Leukopenia, Gastrointestinal hemorrhage, Gastritis, Gastroesophageal refl... ORPHA:809
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Increased circulating IgG level, Anti... ORPHA:562639
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Jaundice, Failure to thrive, Cirrhosis OMIM:617156
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Failure to thrive, Pulmonary hypoplasia, Pancreatic fibrosis OMIM:615503
Glycogen Storage Disease Ib
Hepatomegaly, Neutropenia, Pancreatitis, Hepatocellular carcinoma, Gout OMIM:232220
Fasting hypoglycemia, Decreased body weight, Insulin resistance, Central hypothyroidism, Hyperins... ORPHA:508
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Aspiration pneumonia, Hypoglycemia, Decreased body wei... OMIM:617053
Jacobsen Syndrome
Flexion contracture, Cryptorchidism, Clitoral hypoplasia, U-Shaped upper lip vermilion, Nasolacri... OMIM:147791
Granulomatosis With Polyangiitis
Autoimmunity, Sinusitis, Gastrointestinal hemorrhage, Inflammatory abnormality of the eye, Increa... ORPHA:900
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Hypereosinophilia, Leukocytosis, Pleural effusion, Atopic dermatitis, Increased cir... ORPHA:2902
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, T lymphocytopenia, Recurrent otitis media, Hypothyroidism, Pneumonia, Autoimmune th... OMIM:607944
Lysinuric Protein Intolerance
Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Glomerulonephritis, Tubulointerstitial nephriti... ORPHA:470
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Sarcoma, Weight loss ORPHA:66661
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Oral melanotic macule, Precocious puberty with Sertoli cell tumor, Br... OMIM:175200
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Epididymitis, Hematemesis, Ascites, Thrombocytopenia, Conjunctivitis, Diarrhea, Leu... ORPHA:99827
Annular Pancreas
Annular pancreas, Duodenal stenosis, High intestinal obstruction ORPHA:675
Pancreas, Annular
Annular pancreas, Duodenal stenosis, High intestinal obstruction OMIM:167750
Laron Syndrome
Hypoglycemia, Hypohidrosis, Delayed eruption of teeth, Microdontia, Hypoplasia of penis, Truncal ... ORPHA:633
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Polycystic ovaries, Pancreatitis ORPHA:435651
Feingold Syndrome
Esophageal atresia, Oral cleft, Abnormality of the spleen, Annular pancreas, Duodenal atresia ORPHA:1305
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hypothyroidism, Polycystic ovaries, Ulcerative colitis, Chronic neutropenia, P... ORPHA:79259
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Fanconi Anemia, Complementation Group D2
Leukemia, Small for gestational age, Cryptorchidism, Micropenis, Tracheoesophageal fistula, Esoph... OMIM:227646
Blau Syndrome
Abnormal salivary gland morphology, Abnormality of the liver, Clear cell renal cell carcinoma, Sp... ORPHA:90340
Familial Adenomatous Polyposis 1
Hepatoblastoma, Adrenocortical carcinoma, Colon cancer, Osteoma, Adenomatous colonic polyposis, D... OMIM:175100
Lambert-Eaton Myasthenic Syndrome
Hypohidrosis, Keratoconjunctivitis sicca, Impotence, Small cell lung carcinoma, Xerostomia ORPHA:43393
Trisomy 8P
Malrotation of small bowel, Abnormal lung lobation, Bifid uvula, Neuroblastoma, Multiple joint co... ORPHA:264450
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Cystic Fibrosis
Exocrine pancreatic insufficiency, Ileus, Biliary cirrhosis, Recurrent pneumonia, Hepatosplenomeg... OMIM:219700
Campomelia, Cumming Type
Abnormality of the pancreas, Pancreatic cysts, Hepatomegaly, Abnormal intestine morphology, Myelo... ORPHA:1318
Rhabdoid Tumor
Renal neoplasm, Sarcoma, Neoplasm of the liver, Neoplasm of the central nervous system, Weight loss ORPHA:69077
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Ileus, Hepatic steatosis, Flexion contracture, Insulin resistance, Hyperinsulinemi... OMIM:613327
Maple Syrup Urine Disease
Cerebral edema, Vomiting, Pancreatitis OMIM:248600
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hypoglycemia, Weight loss, Hashimoto thyroiditis, Graves disease, Decreased circula... ORPHA:199299
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Angioedema, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Tubuloi... ORPHA:139402
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Hypothyroidism, Dysphagia, Pancreatitis ORPHA:412057
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Irregular menstruation, Delayed puberty, P... ORPHA:264580
Schinzel-Giedion Syndrome
Hepatoblastoma, Central hypothyroidism, Failure to thrive in infancy, Macroglossia, Inguinal hern... ORPHA:798
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia ORPHA:98375
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Abnormality of neutrophils, Anemia, Dysphagia, Pancreatitis, Diarrhe... ORPHA:36426
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Optic nerve misrouting, Abnormality of visual evoked potentials, Depigme... ORPHA:352731
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Intestinal malrotation, Hamartoma of tongue, Microglossia, Pancreatic fibrosis, Pulmo... OMIM:263520
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Abnormal... ORPHA:3464
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Pancreatic cysts, Cholestasis, Bile duct proliferation, Intestinal malrotation... OMIM:208540
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Lymphadenopathy, Lymphocytosis, Thrombocytopenia, Decreased ... OMIM:617718
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, High palate, Hyperechogenic pancreas, Hepatomegaly, Failure to... OMIM:617941
Bohring-Opitz Syndrome
Cholelithiasis, Bilateral wrist flexion contracture, Medulloblastoma, Cleft lip, Severe failure t... ORPHA:97297
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Cryptorchidism, Micropenis, Hypogonadism OMIM:617575
Bachmann-Bupp Syndrome
Large for gestational age, High palate, Hypoglycemia, Cryptorchidism, Thin upper lip vermilion OMIM:619075
Sinusitis, T lymphocytopenia, Decreased circulating IgG level, Female hypogonadism, Leukemia, Dec... OMIM:208900
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Addison Disease
Primary adrenal insufficiency, Hypoglycemia, Decreased female libido, Weight loss, Increased circ... ORPHA:85138
Diffuse Alveolar Hemorrhage
Autoimmunity, Leukocytosis, Rheumatoid factor positive, Antiphospholipid antibody positivity, Ane... ORPHA:90060
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Extrapulmonary sequestrum, Hepatomegaly, Omphalocele, Pancreatic fibrosis, Pol... OMIM:200995
Acquired Ichthyosis
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm ORPHA:454
Fryns Syndrome
Long philtrum, Cryptorchidism, Tented upper lip vermilion, Cleft palate, Cleft upper lip, Intesti... OMIM:229850
Pediatric-Onset Graves Disease
Autoimmunity, Thyrotoxicosis with diffuse goiter, Increased circulating free T3, Oligohydramnios,... ORPHA:525731
Yellow Fever
Increased circulating interleukin 6 concentration, Acute pancreatitis, Nausea, Leukocytosis, Incr... ORPHA:99829
Bannayan-Riley-Ruvalcaba Syndrome
Visceral angiomatosis, Hypoglycemia, Long philtrum, Neoplasm of the adrenal cortex, Hashimoto thy... ORPHA:109
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Malrotation of colon, Cleft palate, Pulmonary hypoplasia ORPHA:1190
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Pancreatitis ORPHA:431361
Autoimmunity, Myositis, Leukemia, Glomerulonephritis, Imbalanced hemoglobin synthesis, Systemic l... ORPHA:99867
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Delayed eruption of teeth OMIM:619489
Familial Chylomicronemia Syndrome
Hepatic steatosis, Acute pancreatitis, Hepatosplenomegaly, Recurrent pancreatitis, Jaundice, Peri... ORPHA:444490
Bannayan-Riley-Ruvalcaba syndrome
Multiple lipomas, High palate, Hypoglycemia, Hashimoto thyroiditis, Supernumerary nipple, Intussu... OMIM:153480
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Small for gestational age, Macronodular cirrhosis, Hepatomegal... OMIM:557000
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, High palate, Elbow flexion contracture, Knee flexion contracture OMIM:618162
Parathyroid Carcinoma
Parathyroid carcinoma, Renal hamartoma, Fibroma, Testicular neoplasm, Primary hyperparathyroidism... ORPHA:143
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Neutropenia, Anemia, Dysphagia, Pancreatitis, Thrombocytopenia, Conj... ORPHA:537
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Parathyroid adenoma, Pancreatitis OMIM:145980
Von Hippel-Lindau Disease
Epididymal cyst, Paraganglioma, Papillary cystadenoma of the epididymis, Cerebellar hemangioblast... ORPHA:892
Behçet Disease
Optic neuritis, Myositis, Gastrointestinal hemorrhage, Orchitis, Arthritis, Infectious encephalit... ORPHA:117
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Combined Immunodeficiency Due To Crac Channel Dysfunction
Autoimmunity, Pneumonia, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Chronic o... ORPHA:169090
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Dermatitis Herpetiformis
Microcytic anemia, Autoimmunity, Eczema, Edema ORPHA:1656
Citrullinemia Type Ii
Cerebral edema, Hepatic steatosis, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Hepatic ... ORPHA:247585
Secondary Intestinal Lymphangiectasia
Anasarca, Autoimmunity, Constrictive pericarditis, Decreased circulating total IgM, Decreased cir...