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Gene: Lipa MGI:96789

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
lysosomal acid lipase A
Synonyms:
Lal,  Lip-1,  Lip1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Lipa 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 Lipa by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Hypersplenism, Pulmonary arteri... OMIM:278000
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Esophageal varix, Hepatomegaly, Jaundice, Hypertriglyceridemia, ... ORPHA:75234
Wolman Disease
Bone-marrow foam cells, Steatorrhea, Esophageal varix, Hepatomegaly, Adrenal insufficiency, Cache... ORPHA:75233

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Insulin resistance, Hepatic steatosis, Hirsutism, Lipodystrop... OMIM:612526
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Pulmonary interstitial lymphocyte infiltration, Thyroiditis, Failure to thrive in infancy, Eczema... OMIM:606367
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Abnormal tongue morphology, Sparse hair, Hype... ORPHA:2457
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatic fibrosis, Hypertrig... ORPHA:280356
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Wheezing, Dyspnea, Elevated hepatic transaminase, Chronic pulmonary obstruction, Hepat... OMIM:613490
Trichohepatoenteric Syndrome 2
Cirrhosis, Sparse hair, Villous atrophy, Uncombable hair, Colitis, Hepatomegaly, Decreased serum ... OMIM:614602
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Villous atrophy, Protein-losing enteropathy, Hepatic fi... OMIM:602579
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Skin rash, Villous atrophy, Pancytopenia, Reduced n... OMIM:616050
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Polyphagia, Red hair, Pituitary... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Polyphagia, Red hair, Pituitary... ORPHA:71526
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I... OMIM:606721
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatom... ORPHA:79084
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hypothyroidism, Lymphopenia, Villous atrophy, Delayed puberty, Chron... OMIM:614162
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Failure to thrive, Splenomegal... OMIM:618495
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Generalized lymphadenopathy, Pneumonia, Pancytopenia, Lymphadenopath... OMIM:614700
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Reduced intraabdominal adipos... ORPHA:363400
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Gastrointestinal stroma tumor, Hemolytic an... ORPHA:1572
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Low anterior hairline, Macroglossia, Hyperinsulinemia, Insulin r... ORPHA:528
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Microscopic hematuria, General... ORPHA:79087
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, A... OMIM:615980
Hypocomplementemic Urticarial Vasculitis
Skin rash, Restrictive ventilatory defect, Dyspnea, Hematuria, Proteinuria, Pleural effusion, Emp... ORPHA:36412
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Hypersplenism, Pulmonary arteri... OMIM:278000
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Hirsutism, Lipodystrophy, Hype... OMIM:604367
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:269840
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Pneumonia, Hepatomegaly, ... OMIM:608971
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Dysphagia... OMIM:613327
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Erythroderma, Ventriculomegaly, Vi... OMIM:304790
Autosomal Dominant Cutis Laxa
Emphysema, Umbilical hernia, Inguinal hernia, Hernia, Bowel diverticulosis ORPHA:90348
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Polycystic ovaries... ORPHA:2348
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Cough, Intestinal malrotation, Respiratory insufficiency, Pancytopenia, Decreased l... OMIM:613658
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Inflammatory abnormality of the skin, Overweight, Elevated hepatic... ORPHA:26793
Secondary Short Bowel Syndrome
Low plasma citrulline, Polyphagia, Small intestinal dysmotility, Villous atrophy, Central hypothy... ORPHA:95427
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Incr... ORPHA:435660
Perlman Syndrome
Cryptorchidism, Short nose, Hyperinsulinemia, Wide nasal bridge, Hepatomegaly, Inguinal hernia, F... ORPHA:2849
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Ascites, Alopecia, Anemia, Abnormality of the small int... ORPHA:100025
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatomegaly, Jaundice, Hepatitis, Hepatic failure, Nephrotic syndrome ORPHA:60
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hyperuricemia, ... ORPHA:79083
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet... OMIM:615703
Whipple Disease
Pleuritis, Pericarditis, Cough, Respiratory insufficiency, Anemia, Myocarditis, Myositis, Hydroce... ORPHA:3452
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... ORPHA:70589
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Small for gestational age, Cirrhosis, Villous atrophy, Hypo... ORPHA:84064
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Polyphagia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes me... ORPHA:71529
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Multiple lipomas, Parathyroid adenoma, Pneumothorax, Medullar... ORPHA:122
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Emphysema, Pyoderma, R... OMIM:242700
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Weight loss, Respiratory insufficiency, Asthma, Hemoptysis, Pul... ORPHA:1164
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, Hepatomegaly, Hypertr... OMIM:615238
Isolated Agammaglobulinemia
Skin rash, Cellulitis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Malabsorption,... ORPHA:229717
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, Failure to th... OMIM:615863
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Inflammatory abnormality... ORPHA:398063
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Flexion con... OMIM:615381
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal bilia... ORPHA:3032
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Viral hepatitis, Villous atrophy, Neutropenia, Bili... OMIM:209920
Sarcoidosis
Bronchiectasis, Cough, Maculopapular exanthema, Weight loss, Hypercalciuria, Decreased liver func... ORPHA:797
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... OMIM:151660
Nocardiosis
Peritonitis, Cutaneous abscess, Pleuritis, Pericarditis, Thyroiditis, Pneumonia, Weight loss, Ost... ORPHA:31204
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Villous atrophy, Conjugated hyperbil... ORPHA:567983
Gaucher Disease Type 2
Respiratory distress, Dysphagia, Abnormal pattern of respiration, Flexion contracture, Cough, Hep... ORPHA:77260
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Sparse hair, Premature graying of hair, Absent eyelashes, Emphysema, Lipoat... ORPHA:363618
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Hyperinsulinemic... ORPHA:276575
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Po... ORPHA:435651
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Polycystic ovaries,... ORPHA:90970
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Folliculitis, Acne, Inflammation ... OMIM:300635
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Cryptorchidism, Overweight, Recurrent... OMIM:616222
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Increased facial adipose tissue, Insulin resistance, Increased adipose... ORPHA:280365
Congenital Disorder Of Glycosylation, Type Id
Arthrogryposis multiplex congenita, Bulbous nose, Villous atrophy, Flexion contracture, Wide nasa... OMIM:601110
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Elevated hepati... ORPHA:71212
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Recurrent upper respiratory tract... OMIM:613101
Sarcoidosis, Susceptibility To, 1
Bronchiectasis, Cough, Generalized lymphadenopathy, Weight loss, Pancytopenia, Hypercalciuria, Pu... OMIM:181000
Netherton Syndrome
Skin rash, Abnormal hair morphology, Erythroderma, Emphysema, Malabsorption, Recurrent respirator... ORPHA:634
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Portal hypertension, Cirrhosis, Hepatic failure OMIM:210050
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal circul... ORPHA:79086
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Dyspnea, Diffuse reticular or finely nodular infiltrations, Sea-blue hist... OMIM:607616
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Hyperinsulinemic hypoglycemia, Delayed puberty, Dorsocervical fat pad, Wide nose OMIM:616033
Insulin-Resistance Syndrome Type B
Skin rash, Hyperinsulinemic hypoglycemia, Hirsutism, Abnormal circulating lipid concentration, We... ORPHA:2298
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Delayed puberty, Pulmonary arterial hypertension, Eczema, Renal arte... ORPHA:391487
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Elevated hepatic transaminase, Hyperinsulinemia, Polyphagia, H... OMIM:608594
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Failure to thrive in infancy... OMIM:232700
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Failure to thrive, Type ... ORPHA:181393
Trichohepatoenteric Syndrome 1
Jaundice, Small for gestational age, Hypoalbuminemia, Galactosuria, Wide nose, Cirrhosis, Villous... OMIM:222470
Graft Versus Host Disease
Pneumonia, Maculopapular exanthema, Jaundice, Chronic hepatitis, Myositis, Lymphadenopathy, Hemop... ORPHA:39812
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Dysphagia, Diffuse hepatic steatosis, Wide nasal bridge, Hepatomeg... OMIM:264470
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Elevated hepatic transaminase, Hyperinsulinemia, Polyphagia, H... OMIM:269700
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperp... ORPHA:276556
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Nephrotic range proteinuria, Lipodystrophy, Gas... ORPHA:300536
Lymphangioleiomyomatosis
Hematuria, Cough, Hydrocephalus, Lymphadenopathy, Multiple renal cysts, Ascites, Chylothorax, Abn... ORPHA:538
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Elevated hepatic transaminase, Microcytic anemia, Hepatic steatos... OMIM:619013
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Respiratory distress, Hepatic steatosis, Ketotic... ORPHA:26792
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Immunodeficiency 27A
Thrombocytosis, Pulmonary infiltrates, Increased inflammatory response, Leukocytosis, Salmonella ... OMIM:209950
Hyperlipoproteinemia, Type Id
Colitis, Hepatomegaly, Failure to thrive, Splenomegaly, Hyperlipoproteinemia OMIM:615947
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Hypophosphatasia
Emphysema, Respiratory insufficiency, Failure to thrive in infancy, Hypercalcemia, Anemia ORPHA:436
Alstrom Syndrome
Hyperuricemia, Renal insufficiency, Otitis media, Hypergonadotropic hypogonadism, Tubulointerstit... OMIM:203800
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased ... OMIM:619048
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia, Failure to ... OMIM:606528
Congenital Tufting Enteropathy
Villous atrophy, Choanal atresia, Abnormal small intestinal mucosa morphology, Weight loss, Steat... ORPHA:92050
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Esophageal varix, Hepatomegaly, Jaundice, Hypertriglyceridemia, ... ORPHA:75234
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Cryptorchidism, Protein-losing entero... OMIM:235255
Bloom Syndrome
Skin rash, Pneumonia, Small for gestational age, Otitis media, Insulin resistance, Gastroesophage... ORPHA:125
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic li... ORPHA:1414
Idiopathic Achalasia
Wheezing, Decreased prealbumin level, Dysphagia, Cough, Gastroesophageal reflux, Weight loss, Bro... ORPHA:930
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Elevated circulating creatine kinase concentration, Abnorm... ORPHA:370
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Failure to thrive, Arthritis OMIM:613217
H Syndrome
Bronchiectasis, Camptodactyly, Histiocytosis, Delayed puberty, Hypertrichosis, Decreased testicul... ORPHA:168569
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Oculoskeletodental Syndrome
Low anterior hairline, Hypocalcemia, Macroglossia, Low posterior hairline, Cryptorchidism, Mucopo... OMIM:618440
Pfapa Syndrome
Weight loss, Hepatomegaly, Encephalitis, Splenomegaly, Recurrent pharyngitis, Malabsorption, Lymp... ORPHA:42642
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Failure to thrive in infancy, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Red hair, Hyperbi... OMIM:609734
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Hypothyroidism, Camptodactyly, Cholestasis, Thrombocytopenia, Hepatomegaly, Prote... OMIM:608104
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Adi... OMIM:246200
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Anemia, Elevated circulating creatine kinase concentration... ORPHA:264580
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Proteinuria, Leukocytosis, Congenital hypoplastic anemia,... ORPHA:77297
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Fusariosis
Peritonitis, Pulmonary opacity, Bronchiectasis, Neutropenia, Pneumonia, Maculopapular exanthema, ... ORPHA:228119
Netherton Syndrome
Brittle scalp hair, Allergic rhinitis, Erythroderma, Villous atrophy, Sparse scalp hair, Hypereos... OMIM:256500
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Hepatic lobular inflammation, Re... ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Elevated circulating alanine... OMIM:619386
Meier-Gorlin Syndrome 6
Cryptorchidism, Short nose, Underdeveloped nasal alae, Emphysema, Gastroesophageal reflux, Decrea... OMIM:616835
Cutis Laxa, Autosomal Dominant 1
Emphysema, Inguinal hernia OMIM:123700
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Leprechaunism
Central hypothyroidism, Hypercalciuria, Hypertrichosis, Wide nose, Enlarged kidney, Insulin resis... ORPHA:508
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Cellulitis, Bronchiecta... OMIM:615513
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Gastroesophageal reflux, Pyloric stenosis, Tracheomalacia, Umbilical hernia, Wide nasa... OMIM:613177
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Pulmonary fibrosis, Emphysema, Hypophosphatemic ri... OMIM:618913
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Abnormal esophagus morphology, Neutropenia, Pneumonia, Abnormal... ORPHA:1163
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Atypical scarring of skin, Wide nasal bridge, Type ... ORPHA:791
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Hyperinsulinemia, Glucose intolerance, Flexion contracture, Insulin-resistant diabet... OMIM:608612
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Felty Syndrome
Pleuritis, Pericarditis, Neutropenia, Weight loss, Anemia, Sinusitis, Lymphadenopathy, Pulmonary ... ORPHA:47612
Sandhoff Disease
Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Splenomegaly ORPHA:796
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Narrow palate, Bulbous nose, Macrovesicular hepatic steatosis, Respira... OMIM:608836
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Failure to thrive, Splenomegaly, Malabsorption ORPHA:172
Rabson-Mendenhall Syndrome
Premature graying of hair, Impaired glucose tolerance, Hirsutism, Hypertrichosis, High palate, Pr... ORPHA:769
Immunodeficiency 51
Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Hirsutism, Neutropenia, Coarse hair, Hypoalbuminemia, Anemia, L... OMIM:617303
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimm... OMIM:615952
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:444463
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Exertional dyspnea, Hepatic stea... ORPHA:42
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency, Splenomegaly ORPHA:139406
Autosomal Recessive Cutis Laxa Type 1
Pyelonephritis, Emphysema, Peripheral pulmonary artery stenosis, Small bowel diverticula, Respira... ORPHA:90349
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Dysphagia, Weight loss, Primary hyperparathyroidism, Neopl... ORPHA:1332
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabete... ORPHA:436182
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Elevated hepatic transaminase, Proteinuria, Hypergonadotropic hypogonadism, Hepat... OMIM:212065
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Cryptorchidism, Broad nasal tip, Vent... ORPHA:1655
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Zollinger-Ellison syndrome, Fasting hyperinsulin... ORPHA:97279
Autosomal Agammaglobulinemia
Skin rash, Osteomyelitis, Cellulitis, Bronchiectasis, Cough, Chronic otitis media, Malabsorption,... ORPHA:33110
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Alpha-Mannosidosis
Macroglossia, Narrow palate, Chronic otitis media, Hepatomegaly, Arthritis, Inguinal hernia, Type... ORPHA:61
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Elevated hepatic transaminase, Lymphopenia, Flexion contracture, Panniculitis, Lipodys... OMIM:617591
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver... ORPHA:79301
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic otitis m... OMIM:604571
Aredyld Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the eyebrow, Lipoatrophy, Abnormality of... ORPHA:1133
Diarrhea 2, With Microvillus Atrophy
Villous atrophy, Abnormal intestine morphology OMIM:251850
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Hirsutism, Primary hypercortisolism, Increased body weight,... OMIM:615830
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Zollinger-Ellison Syndrome
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:913
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Small for gestational age, Neoplasm of the pancreas, Low posterior hairline, Mic... ORPHA:2959
Diarrhea 9
Villous atrophy, Failure to thrive OMIM:618168
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Fair hair, Hepatomegaly, Nephrotic syndrom... OMIM:269920
Loeys-Dietz Syndrome 4
Emphysema, Inguinal hernia, Broad uvula, Bifid uvula, High palate, High, narrow palate, Pneumotho... OMIM:614816
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Skin rash, Neutropenia, Thrombocy... OMIM:603552
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Recurrent upper respiratory tract infection... ORPHA:66628
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
19P13.12 Microdeletion Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Hepatic steatosis, Ventriculomegaly, Hypothyr... ORPHA:254346
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Recurrent upper respiratory tract infection... ORPHA:179494
Congenital Bile Acid Synthesis Defect Type 4
Cirrhosis, Biliary tract abnormality, Cholestasis, Hepatomegaly, Type II diabetes mellitus, Fat m... ORPHA:79095
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Pancytopenia, Hepatomegaly, Failu... OMIM:617872
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Dysphagia, Cough, Respiratory failure requiring assisted ventilation, Aspiration pneumon... ORPHA:90117
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Erythroderma, Pneumonia, Thrombocytopenia, Hypoplasia ... OMIM:603554
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Pneumonia, Abnormality of the lymp... ORPHA:911
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... OMIM:616828
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Respiratory arrest, Hepatocellular necrosis, Hepatic steatosis, Perip... OMIM:201475
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Fabry Disease
Dyspnea, Chronic pulmonary obstruction, Hematuria, Proteinuria, Diabetes insipidus, Emphysema, Ab... ORPHA:324
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Cog4-Cdg
Hypercholesterolemia, Cirrhosis, Fatal liver failure in infancy, Elevated hepatic transaminase, T... ORPHA:263501
Bronchogenic Cyst
Abnormal sputum, Abnormal stomach morphology, Dyspnea, Abnormal pleura morphology, Dysphagia, Abn... ORPHA:2357
Citrullinemia Type Ii
Hypercholesterolemia, Decreased body mass index, Hypoproteinemia, Elevated hepatic transaminase, ... ORPHA:247585
Melioidosis
Lung abscess, Respiratory tract infection, Prostatitis, Cutaneous abscess, Cellulitis, Splenic ab... ORPHA:31202
Hodgkin Lymphoma
Dyspnea, Cough, Weight loss, Hepatomegaly, Splenomegaly, Hemoptysis, Lymphadenopathy ORPHA:98293
Bronchial Neuroendocrine Tumor
Wheezing, Dyspnea, Increased circulating cortisol level, Bronchospasm, Elevated circulating growt... ORPHA:97287
Whim Syndrome
Recurrent pneumonia, Respiratory tract infection, Severe periodontitis, Cellulitis, Bronchiectasi... ORPHA:51636
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, High palate, Anteverted nares, Chronic bronchitis, Depressed nasal bridge OMIM:614069
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, High palate, Flexion contracture, Increased adipose tissue around the neck, Lip... OMIM:248370
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hyperinsuline... ORPHA:263455
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Recurrent upper respiratory tract infections, Abnormal eating... OMIM:614962
Familial Multiple Lipomatosis
Functional intestinal obstruction, Insulin resistance, Ventriculomegaly, Lipodystrophy, Increased... ORPHA:199276
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Micropenis, Pneumonia, Multicystic kidn... OMIM:300209
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglyce... OMIM:212140
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Colitis, Recurrent bronchiolitis, B lymphocy... OMIM:619164
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated hepatic transaminase, Small intestinal dysmotility, Hypergonadotropic hypogon... ORPHA:298
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Villous atrophy, Hypogonadotropic hypogonadism, Malabsorpti... OMIM:600955
X-Linked Agammaglobulinemia
Hypocalcemia, Skin rash, Neutropenia, Weight loss, Anemia, Sinusitis, Abnormality of the tonsils,... ORPHA:47
Gaucher Disease, Type Ii
Apnea, Dysphagia, Thrombocytopenia, Hepatomegaly, Failure to thrive, Splenomegaly, Anemia, Recurr... OMIM:230900
Legionnaires Disease
Hematuria, Pericarditis, Cough, Respiratory insufficiency, Jaundice, Myocarditis, Renal insuffici... ORPHA:549
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Esophageal Atresia
Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, Oral aversion, Ch... ORPHA:1199
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Respiratory distress, Failure to thrive OMIM:615595
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function, Hydronephrosis, Failu... OMIM:617093
Scleroderma
Pericarditis, Acute kidney injury, Abnormality of the small intestine, Chronic kidney disease, My... ORPHA:801
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Abnormally low T cell receptor excision circle level, Generalized lymphadenopathy... OMIM:618986
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Elevated hepatic t... ORPHA:525731
Wolman Disease
Bone-marrow foam cells, Steatorrhea, Esophageal varix, Hepatomegaly, Adrenal insufficiency, Cache... ORPHA:75233
Cushing Disease
Premature ovarian insufficiency, Lipodystrophy, Truncal obesity, Hypokalemia, Failure to thrive, ... ORPHA:96253
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Thick hair, Hepatomegaly, Hepatic failure, Splenomegaly... OMIM:613489
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency, Hip contracture,... ORPHA:97244
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Megaloblastic anemia, Emphysema, Biliary cirrhosis, Recurrent ... OMIM:219721
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Muscular Hypertonia, Lethal
Pneumonia, Umbilical hernia OMIM:254120
Analbuminemia
Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy, Hypoalbumine... OMIM:616000
Werner Syndrome
Ovarian neoplasm, Premature graying of hair, Pulmonary artery stenosis, Type II diabetes mellitus... ORPHA:902
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B... ORPHA:79302
Omenn Syndrome
Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Ery... ORPHA:39041
Matthew-Wood Syndrome
Cryptorchidism, Abnormal lung morphology, Horseshoe kidney, Renal hypoplasia, Abnormal spleen mor... ORPHA:2470
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Glucose i... OMIM:235200
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Impaired lymphocyte transformation with p... OMIM:300400
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Flexion contracture, Splenomegaly OMIM:608540
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Recurrent pancreatitis, Acute pancreatitis, Jaundice, H... ORPHA:444490
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Respiratory distress, Camptodactyly, Elevated circulating creatine... OMIM:608799
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Wide nasal bridge, Aspiration pneumonia, Failure to thrive, Depressed nasal bridge OMIM:609528
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Truncal obesity, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Neonatal Marfan Syndrome
Emphysema, Flexion contracture, Lipoatrophy, Hypoxemia, Wide nasal bridge, Neonatal respiratory d... ORPHA:284979
Crimean-Congo Hemorrhagic Fever
Skin rash, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Cardiorespiratory arrest, ... ORPHA:99827
Congenital Disorder Of Glycosylation, Type Iic
Cellulitis, Bulbous nose, Bronchiolitis, Widow's peak, Recurrent otitis media, Periodontitis, Pne... OMIM:266265
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Splenomegaly, Sinusitis, Recurrent respiratory infections OMIM:226990
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Follicular hyperplasia, He... OMIM:619126
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Hematochezia, Leukocytosis, Abnormality of the gastrointest... ORPHA:2070
Caspase 8 Deficiency
Pneumonia, Recurrent sinopulmonary infections, Decreased CD4:CD8 ratio, Asthma, Failure to thrive... OMIM:607271
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepato... OMIM:211600
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Jaundice, Hypersplenism, Renal insufficiency, Fat malabsorption, Enlarged ki... ORPHA:731
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Failure to thrive, Steatorrhea, Hypocholesterolemia OMIM:266510
Roifman Syndrome
Recurrent pneumonia, Underdeveloped nasal alae, Prominent eyelashes, Recurrent otitis media, Lymp... OMIM:616651
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Scedosporiosis
Pleuritis, Pericarditis, Arthralgia/arthritis, Pulmonary fibrosis, Endocarditis, Decreased pulmon... ORPHA:449280
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Sparse hair, Insulin resistance, Renal hypoplasia, Micropenis, Ventriculomegaly, ... OMIM:616541
Schaaf-Yang Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Sleep apnea, Polyphagia, Camptodactyly, Flexi... OMIM:615547
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Acrocephalopolydactylous Dysplasia
Short nose, Enlarged kidney, Cystic renal dysplasia, Polysplenia, Hypoplastic colon, Omphalocele,... OMIM:200995
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Interstitial Lung And Liver Disease
Cirrhosis, Intraalveolar phospholipid accumulation, Dyspnea, Elevated hepatic transaminase, Hepat... OMIM:615486
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Pulmonary fibrosis, Lymphadenitis, ... OMIM:618935
Cebalid Syndrome
Highly arched eyebrow, Short nose, Polyphagia, Thick eyebrow, Congenital diaphragmatic hernia, Hi... OMIM:618774
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cardiomegaly, Elevated circulating creatine kinase concentration, Renal insuffic... ORPHA:228308
Shigellosis
Peritonitis, Acute kidney injury, Pneumonia, Failure to thrive in infancy, Abnormal blood ion con... ORPHA:810
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria, Recurrent respiratory infections, Hyperglycinemia, Protein-losing enteropathy OMIM:619063
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Exocrine pancreatic insufficiency, Steatorrhea, Hepatomegaly, Jaund... OMIM:612714
Mucopolysaccharidosis, Type Iiic
Recurrent upper respiratory tract infections, Dysphagia, Hirsutism, Coarse hair, Synophrys, Hepar... OMIM:252930
Griscelli Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neutrophils, Abnormal eyel... ORPHA:381
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Thyroiditis, Hyperuricemia, Delayed puberty, Anemia, Hyperlipi... ORPHA:79259
Atypical Werner Syndrome
Ovarian neoplasm, Premature graying of hair, Delayed puberty, Type II diabetes mellitus, Generali... ORPHA:79474
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Autoimmune thrombocytopenia, Bronchiectasis, Decreased proportion of CD4-po... OMIM:300853
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Duodenitis, Erythroderma, Villous atrophy, Failure to thrive, Blepharitis OMIM:614328
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hypothyroidism, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hepatic... OMIM:616263
Proteus Syndrome
Multiple lipomas, Splenomegaly, Lymphangioma, Lipoma, Depressed nasal bridge OMIM:176920
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Cough, Pneumonia, Anemi... ORPHA:3392
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent upper respira... OMIM:616100
Shwachman-Diamond Syndrome
Skin rash, Neutropenia, Pneumonia, Pancytopenia, Pancreatic hypoplasia, Anemia, Leukopenia, Sinus... ORPHA:811
Adrenomyodystrophy
Megacystis, Hepatic steatosis, Primary adrenal insufficiency, Failure to thrive, Abnormal intesti... ORPHA:977
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Polycystic ovaries, Ty... ORPHA:3085
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyponatremia, Pneumonia, Hypoglycemia, Hyperactive renin-an... ORPHA:90790
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Monosomy 13Q34
Horizontal eyebrow, Hematochezia, Insulin resistance, Hepatic steatosis, Epistaxis, Prominent nos... ORPHA:96168
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Neutropenia, Pneumonia, Sinusitis, C... OMIM:601495
Cronkhite-Canada Syndrome
Hamartomatous polyposis, Aplasia/Hypoplasia of the eyebrow, Gastrointestinal carcinoma, Hepatomeg... ORPHA:2930
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Trimethylaminuria
Neutropenia, Splenomegaly, Anemia, Recurrent pneumonia, Trimethylaminuria OMIM:602079
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Osteomyelitis, Cellulitis, Lymphadenitis, Eczematoid dermatitis, Impaired ox... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent pneumonia, Osteomyelitis, Cellulitis, Lymphadenitis, Eczematoid dermatitis, Impaired ox... OMIM:233710
Zygomycosis
Peritonitis, Pericarditis, Cough, Neutropenia, Ileitis, Melena, Sinusitis, Myocarditis, Renal ins... ORPHA:73263
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Abno... ORPHA:275761
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Umbilical hernia, Bladder diverticulum, Inguinal hernia, Congenital diaphragmatic hern... OMIM:219100
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abnormality of the peritoneum, Weight loss, Respiratory insu... ORPHA:26790
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Elevated circulating C-reactive protein concentration, Anemia, Leukopeni... OMIM:615688
Short Syndrome
Abnormal dental enamel morphology, Sparse hair, Insulin resistance, Lipodystrophy, Weight loss, W... ORPHA:3163
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Failure to thrive, Spleno... OMIM:230350
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Gout, Hypertriglyceridemia... OMIM:610947
Immunodeficiency 54
Respiratory insufficiency, Hepatomegaly, Reduced natural killer cell count, Adrenal insufficiency... OMIM:609981
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Inflammation of the large intestine, Cirrhosis, Elevated hepatic transaminase,... OMIM:614576
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Elevated circulating C-reactive protein concentration, Leukopenia, Neutrophilia... ORPHA:36238
Mucopolysaccharidosis, Type Iiid
Recurrent upper respiratory tract infections, Dysphagia, Flexion contracture, Hirsutism, Coarse h... OMIM:252940
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Cellulitis, Lymphopenia, Leukemia, Periodontitis, Neutropenia, Pneumonia, Recurrent ... ORPHA:486
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Oral avers... ORPHA:470
Cyclic Neutropenia
Peritonitis, Respiratory tract infection, Recurrent tonsillitis, Cellulitis, Decreased eosinophil... ORPHA:2686
Chronic Granulomatous Disease
Chronic pulmonary obstruction, Abnormality of neutrophils, Malabsorption, Pyloric stenosis, Recur... ORPHA:379
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Osteomyelitis, Cellulitis, Lymphadenitis, Eczematoid dermatitis, Impaired ox... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent pneumonia, Osteomyelitis, Cellulitis, Lymphadenitis, Eczematoid dermatitis, Impaired ox... OMIM:233690
Hurler-Scheie Syndrome
Hepatomegaly, Hernia, Rhinitis, Splenomegaly, Generalized hirsutism, Abnormality of the tonsils ORPHA:93476
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Cough, Abnormal natural killer cell count, Failure to thr... ORPHA:79124
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Hep... OMIM:601847
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Renal cortical cysts, Glutaric aciduria, Hepatic steatosis, Elevated circul... OMIM:231680
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Pneumonia, Hepatomegaly, Pulmonary embol... OMIM:226300
Autoimmune Hepatitis
Acute hepatitis, Increased total bilirubin, Cirrhosis, Inflammation of the large intestine, Eleva... ORPHA:2137
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Pneumonia, H... ORPHA:36234
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short nose, Abnormal hair morphology, Insulin resistance, Calcinosis, Delayed puberty, Alopecia, ... ORPHA:90154
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Dec... ORPHA:541423
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Griscelli Syndrome Type 2
Hemophagocytosis, Hypopigmentation of hair, Premature graying of hair, Neutropenia, Pancytopenia,... ORPHA:79477
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Flexion contracture, Pancytopenia, Thrombocytopenia, Hepatome... ORPHA:85212
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly, Renal t... OMIM:255120
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Lymphopenia, Gastroesophageal reflu... OMIM:617053
Distal Monosomy 12Q
Bulbous nose, Failure to thrive in infancy, Congenital hypertrophy of left ventricle, Vesicourete... ORPHA:96149
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Hypermethioninemia, Inguinal hernia, Brittle hair, Failure to thrive, Pancreat... OMIM:236200
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Low anterior hairline, Highly arched eyebrow, Microvesicular hepatic steatosis, Increased hepatoc... OMIM:220111
Pearson Syndrome
Hypocalcemia, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Small for gestatio... ORPHA:699
Alström Syndrome
Decreased circulating T4 level, Hirsutism, Elevated circulating thyroid-stimulating hormone conce... ORPHA:64
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young, Cryptorchidism, Recurrent otitis medi... ORPHA:96184
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinu... OMIM:240500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Bulbous nose, Abnormal response to hu... ORPHA:95699
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Abnormal circulating creatine kinase concentration, Elevated hep... ORPHA:369840
Focal Dermal Hypoplasia
Camptodactyly of finger, Abnormal dental enamel morphology, Horseshoe kidney, Gastroesophageal re... ORPHA:2092
Adult-Onset Still Disease
Skin rash, Restrictive ventilatory defect, Pleuritis, Elevated hepatic transaminase, Pericarditis... ORPHA:829
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia, Short nose, H... OMIM:170100
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Ventriculomegaly, Polysplenia, Duodenal atresia, Decreased response to growth h... OMIM:617784
Grfoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97261
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Sleep apnea, Central hypothyroidism, Xerostomia, Type II diabetes mellitus, Decre... ORPHA:398069
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Pulmonary infiltrates, Myeloproliferative disorder, Eosinophilia OMIM:607685
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Juvenile Idiopathic Arthritis
Skin rash, Abnormal pleura morphology, Uveitis, Hepatomegaly, Splenomegaly, Mediastinal lymphaden... ORPHA:92
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypothyroidism, Camptodactyly, Gastroesophageal reflux, Choanal atresia, Hashimoto thyroiditis, F... OMIM:613385
Axial Mesodermal Dysplasia Spectrum
Morphological abnormality of the gastrointestinal tract, Hydrocephalus, Gastroesophageal reflux, ... ORPHA:1834
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepatic steatosis... OMIM:613070
Mitchell-Riley Syndrome
Hyperglycemia, Annular pancreas, Biliary atresia, Hyperbilirubinemia, Intestinal malrotation, Jej... OMIM:615710
Systemic Sclerosis
Pericarditis, Acute kidney injury, Abnormal esophagus morphology, Chronic kidney disease, Abnorma... ORPHA:90291
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Delayed puberty, Hyperlipidemia, Obesity, Depressed nasal bridge, Recurre... ORPHA:293987
Sialidosis Type 2
Dyspnea, Flexion contracture, Umbilical hernia, Nephropathy, Hepatomegaly, Inguinal hernia, Ascit... ORPHA:87876
Mody
Abnormal oral glucose tolerance, Overweight, Exocrine pancreatic insufficiency, Hyperinsulinemic ... ORPHA:552
Abetalipoproteinemia
Reticulocytosis, Cardiomegaly, Anemia, Hypoalbuminemia, Abnormal circulating apolipoprotein conce... ORPHA:14
Brucellosis
Pericarditis, Pneumonia, Weight loss, Small for gestational age, Elevated circulating C-reactive ... ORPHA:1304
Mucopolysaccharidosis, Type Ii
Macroglossia, Dermatan sulfate excretion in urine, Recurrent otitis media, Flexion contracture, U... OMIM:309900
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Aminoaciduria, Hepatomegaly, Abnormality of ... ORPHA:417
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally lo... OMIM:618806
Feingold Syndrome
Esophageal atresia, Duodenal atresia, Abnormality of the spleen, Anteverted nares, Annular pancre... ORPHA:1305
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Cirrhosis, Microvesicular hepa... OMIM:256810
Fryns Syndrome
Cryptorchidism, Camptodactyly, Intestinal malrotation, Omphalocele, Ectopic pancreatic tissue, Ur... OMIM:229850
Combined Oxidative Phosphorylation Deficiency 12
Macrovesicular hepatic steatosis, Cholestasis, Hepatomegaly, Failure to thrive, Cleft palate OMIM:614924
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Intestinal malrotation, Chronic sinusitis, Hydrocephal... ORPHA:244
Fryns Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Ventriculomegaly, Gastroesophageal reflux, Intestin... ORPHA:2059
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Skin rash, Cough, Chronic oral candidiasis, Lymph node hypoplasia, Decreased prop... ORPHA:276
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Atopic dermatitis, Recurrent bacterial skin inf... ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, Erythroderma, Decr... ORPHA:169160
Vipoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97282
Temple Syndrome
Cryptorchidism, Polyphagia, Decreased response to growth hormone stimuation test, Precocious pube... ORPHA:254516
Hydrolethalus Syndrome 1
Accessory spleen, Laryngeal hypoplasia, Adrenal gland dysgenesis, Omphalocele, Cleft palate, Trac... OMIM:236680
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Pancreatic cysts, Choanal atresia, Umbilical hernia, Cholestasis, Hepatic fibrosis... OMIM:610199
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hemolytic anemia, Chronic otitis media, Pneumonia, Thrombocytopenia, Hep... ORPHA:169090
Mosaic Trisomy 9
Camptodactyly of finger, Cryptorchidism, Multiple renal cysts, Horseshoe kidney, Bulbous nose, Hy... ORPHA:99776
Dysplastic Cortical Hyperostosis
Hepatomegaly, Aplasia/Hypoplasia of the lungs, Splenomegaly ORPHA:2204
Mixed Connective Tissue Disease
Skin rash, Pleuritis, Pericarditis, Xerostomia, Leukopenia, Myocarditis, Pulmonary arterial hyper... ORPHA:809
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Omphalocele, Aqueductal stenosis, Pulmonary hypoplasia, Splenomegaly ORPHA:3035
Coccidioidomycosis
Peritonitis, Skin rash, Pericarditis, Cough, Pneumonia, Renal insufficiency, Osteomyelitis, Hydro... ORPHA:228123
Babesiosis
Renal insufficiency, Hemolytic anemia, Cough, Respiratory insufficiency, Thrombocytopenia, Jaundi... ORPHA:108
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypothyroidism, Neutrope... ORPHA:445038
Transient Neonatal Diabetes Mellitus
Macroglossia, Maternal diabetes, Maturity-onset diabetes of the young, Hypothyroidism, Umbilical ... ORPHA:99886
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Increased circulating very long-chain fatty acid concentration, He... OMIM:261515
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia... OMIM:601346
Meier-Gorlin Syndrome 4
Cryptorchidism, Emphysema, Failure to thrive, Breast hypoplasia OMIM:613804
Muckle-Wells Syndrome
Camptodactyly of finger, Skin rash, Restrictive ventilatory defect, Uveitis, Nephropathy, Hepatom... ORPHA:575
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Classic Hodgkin Lymphoma
Skin rash, Cough, Weight loss, Respiratory insufficiency, Hepatomegaly, Splenomegaly, Hemoptysis,... ORPHA:391
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatos... ORPHA:228305
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Stomatitis OMIM:618307
Immunodeficiency 60
Bronchiectasis, Decreased proportion of memory B cells, Pulmonary fibrosis, Decreased basophil co... OMIM:618394
Diaphanospondylodysostosis
Short nose, Respiratory distress, Enlarged kidney, Cystic renal dysplasia, Tracheomalacia, Respir... OMIM:608022
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Microsporidiosis
Peritonitis, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pne... ORPHA:2552
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia, Polyphagia, Hypergonadotropic hypogonadism, Long eyelashes, ... OMIM:606407
Avian Influenza
Acute kidney injury, Cough, Pneumonia, Hypoalbuminemia, Leukopenia, Elevated circulating C-reacti... ORPHA:454836
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, Uveitis, Pancytopenia, Hepatomegaly, Aplastic anemia, Asci... OMIM:615122
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... OMIM:613179
Sialuria
Sleep apnea, Synophrys, Wide nasal bridge, Hepatomegaly, Hypoplastic nipples, Inguinal hernia, Sp... OMIM:269921
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Skin rash, Abnormal renal physiol... ORPHA:540
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Gastrointestinal atresia, Sparse hair, Autoimmune hemolytic anemia, Hashimoto... ORPHA:436252
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Ventriculomegaly, Respiratory insufficiency, Pancytopenia, Thrombo... OMIM:610333
Juvenile Polyposis Syndrome
Hamartomatous stomach polyps, Juvenile gastrointestinal polyposis, Anemia, Intestinal polyp, Pulm... ORPHA:2929
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Central hypothyroidism, Xerostomia, Type II diabetes mellitus, Decreased testicul... ORPHA:398079
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Macroglossia, Short nose, Bronchiectasis, Pneumonia, Reduced natural killer ce... OMIM:242860
Trichohepatoneurodevelopmental Syndrome
Macroglossia, Central sleep apnea, Bulbous nose, Curly hair, Gastroesophageal reflux, Coarse hair... OMIM:618268
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Impaired glucose tolerance, Elevated circulating thyroid-stimulating h... OMIM:256040
Mucopolysaccharidosis Type 1
Low anterior hairline, Apnea, Mucopolysacchariduria, Cough, Chronic otitis media, Malabsorption, ... ORPHA:579
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Isolated Biliary Atresia
Xanthelasma, Atretic gallbladder, Conjugated hyperbilirubinemia, Jaundice, Decreased liver functi... ORPHA:30391
Typhoid
Skin rash, Gastrointestinal hemorrhage, Cough, Epistaxis, Hepatomegaly, Abnormal pulmonary inters... ORPHA:99745
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Recurrent otitis media, High palate, ... ORPHA:254531
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Thyroiditis, Decreas... ORPHA:3261
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Narrow palate, Camptodactyly, Hirsutism, Erysipelas, Vesicoureteral reflux, Hypoa... OMIM:235510
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Abnormali... OMIM:613313
Congenital Disorder Of Glycosylation, Type It
Dyspnea, Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hypoglycemia... OMIM:614921
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
Gm1 Gangliosidosis
Camptodactyly of finger, Macroglossia, Broad nasal tip, Oral aversion, Dysphagia, Hirsutism, Gast... ORPHA:354
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent otitis media,... OMIM:619220
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Elevated circulating methylsuccinic acid concentration, Bilater... OMIM:618156
Sea-Blue Histiocyte Disease
Cirrhosis, Absent axillary hair, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Anemia, Fa... OMIM:615438
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Ellis Van Creveld Syndrome
Cryptorchidism, Abnormal hair morphology, Abnormal hair quantity, Hydroureter, Emphysema, Abnorma... ORPHA:289
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Chronic sinusitis, Recurrent vulvovaginal candidiasis, Otitis ... ORPHA:331235
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Chronic otitis media, Recurrent respiratory infections... ORPHA:3226
Jacobsen Syndrome
Cryptorchidism, Short nose, Anteverted nares, Ventriculomegaly, Intestinal malrotation, Wide nasa... ORPHA:2308
Follicular Lymphoma
Pleural effusion, Abnormality of the peritoneum, Weight loss, Splenomegaly, Mediastinal lymphaden... ORPHA:545
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pleuritis, Cellulitis, Pericarditis, Leukocytosis, Uveitis, Orchitis, Con... ORPHA:32960
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:86893
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Weight loss, Pancytopenia, Thrombo... ORPHA:507
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Camptodactyly, Hypothyroidism, Acute hepatic failure, Choanal atresia, Ne... ORPHA:228426
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Panniculitis, Pancytopenia, Hyper... OMIM:618398
Q Fever
Hematuria, Pericarditis, Cough, Pneumonia, Weight loss, Maculopapular exanthema, Anemia, Myocardi... ORPHA:781
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Splenomegaly OMIM:602271
Congenital Contractural Arachnodactyly
Slender build, Camptodactyly of finger, Arthrogryposis multiplex congenita, Flexion contracture, ... ORPHA:115
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Esophagitis, Tracheal calcification, Wheezing, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Burkitt Lymphoma
Abnormality of the ovary, Gastrointestinal hemorrhage, Decreased proportion of CD4-positive helpe... ORPHA:543
Congenital Rubella Syndrome
Skin rash, Thrombocytopenia, Jaundice, Hepatomegaly, Type I diabetes mellitus, Anemia, Splenomega... ORPHA:290
Cystic Fibrosis
Bronchiectasis, Nasal polyposis, Hypercalciuria, Decreased forced expiratory flow 25-75%, Ileus, ... OMIM:219700
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Dyspnea, Elevated hepatic transaminase, Respiratory distress, Neonatal hypo... ORPHA:348
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Primary hyperaldosteronism, Nocturia, Delayed puberty, Type II dia... ORPHA:358
Immunodeficiency 69
Increased circulating ferritin concentration, Skin rash, Thrombocytosis, Leukocytosis, Pancytopen... OMIM:618963
Hardikar Syndrome
Elevated hepatic transaminase, Hydroureter, Hyperbilirubinemia, Intestinal malrotation, Hepatomeg... OMIM:612726
Mucopolysaccharidosis Type 6
Macroglossia, Recurrent upper respiratory tract infections, Mucopolysacchariduria, Chronic otitis... ORPHA:583
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Ventriculomegaly, Pneumonia ORPHA:85179
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Pharyngalgia, Elevated circulating C-reactive protein concentration, Spl... OMIM:611762
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Micronodular cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypotrig... ORPHA:404454
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Intestinal malrotation, Respiratory insufficiency, Hepatomegaly, Duodena... ORPHA:1759
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, Pulmonary arterial hypertension,... ORPHA:231222
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Purulent rhinitis, Pneumo... OMIM:601457
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Broad lateral eyebrow, Failure to thrive in infancy, Absent gallbladder, Depresse... ORPHA:500150
Smith-Magenis Syndrome
Hypercholesterolemia, Ventriculomegaly, Abnormality of the larynx, Synophrys, Wide nasal bridge, ... OMIM:182290
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Hepatomegaly, Hypogonadism, Anemia, Sp... OMIM:615234
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Immunodeficiency 72 With Autoinflammation
Bronchiectasis, Recurrent otitis media, Increased B cell count, Increased proportion of memory T ... OMIM:618982
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Ventriculomegaly, Congenital adrenal hyperplasia, Thrombocytopenia, Inguinal he... ORPHA:96181
1P36 Deletion Syndrome
Cryptorchidism, Annular pancreas, Depressed nasal bridge, Obesity, Ventriculomegaly, Gastroesopha... ORPHA:1606
Dextrocardia
Meckel diverticulum, Hydrocephalus, Abnormal pulmonary situs morphology, Intestinal malrotation, ... ORPHA:1666
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Short nose, Leukocytosis, Hepatic steatosis, Renal hypoplasia, Flexion contracture, Int... OMIM:619321
Fanconi Anemia, Complementation Group B
Hydrocephalus, Hypergonadotropic hypogonadism, Ventriculomegaly, Esophageal atresia, Thrombocytop... OMIM:300514
Mu-Heavy Chain Disease
Weight loss, Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, S... ORPHA:100024
Hurler-Scheie Syndrome
Hirsutism, Umbilical hernia, Hepatomegaly, Tracheal stenosis, Splenomegaly, Pulmonary arterial hy... OMIM:607015
Classic Mycosis Fungoides
Skin rash, Abnormal lymphocyte morphology, Hepatomegaly, Alopecia, Splenomegaly, Eczema, Lymphade... ORPHA:2584
Fanconi Anemia, Complementation Group F
Cryptorchidism, Microphallus, Renal hypoplasia, Pneumonia, Thrombocytopenia, Pelvic kidney, Duode... OMIM:603467
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Apnea, Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, ... OMIM:261680
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Macroglossia, Goiter, Increased pituitary glycoprotein hormone alpha subuni... ORPHA:90674
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Flexion contracture, Panniculitis, Hepatomegaly, Splenomegaly, Myosi... OMIM:619183
Fucosidosis
Macroglossia, Vacuolated lymphocytes, Absent/hypoplastic paranasal sinuses, Flexion contracture, ... OMIM:230000
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Neutropenia, Respiratory insuffic... OMIM:612541
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Short nose, Camptodactyly, Omphalocele, Wide nasal bridge, Pelvic kidney, Cleft p... OMIM:247200
Gaucher Disease, Perinatal Lethal
Apnea, Arthrogryposis multiplex congenita, Short nose, Respiratory distress, Dysphagia, Ventricul... OMIM:608013
Yellow Nail Syndrome
Biliary tract neoplasm, Yellow nails, Pleuritis, Dyspnea, Bronchiectasis, Cough, Hypoplasia of ly... ORPHA:662
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Marfan Syndrome
Slender build, Spontaneous pneumothorax, Arthralgia/arthritis, Emphysema, Cleft palate, Inguinal ... ORPHA:558
Mucopolysaccharidosis Type 3