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,  Lip1,  Lip-1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 predicted to be associated to Lipa by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ... OMIM:613490
Multiple Symmetric Lipomatosis
Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance ORPHA:2398
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Villous atrophy, Splenomegaly, ... OMIM:608776
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Hepatosplenomegaly, Psoriasiform dermatitis, Decreased CD4:CD8 ratio, Erythroderma, D... OMIM:606367
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Nephrotic syndrome, Hepat... ORPHA:60
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Polyc... ORPHA:280356
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Diffuse alveolar hemorrhage, Reduced natural killer cell count, Failure to thriv... OMIM:616050
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:71526
Immunodeficiency 104
Pneumonia, Gastroesophageal reflux, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Fai... OMIM:608971
Mandibuloacral Dysplasia
Insulin resistance, Alopecia, Increased subcutaneous truncal adipose tissue, Increased circulatin... ORPHA:2457
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration,... OMIM:613327
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu... ORPHA:363400
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Hepatic fibrosis, Hepatic failure, Proximal tubulopa... OMIM:602579
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hypertrichosis, Hyperinsuli... ORPHA:528
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema no... OMIM:612387
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... OMIM:608709
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Generalized hirsutism, Proteinuria, Microscopic hematuria,... ORPHA:79087
Immunodeficiency 31C
Lymphopenia, Weight loss, Hepatomegaly, Gastrointestinal eosinophilia, Eczematoid dermatitis, Ost... OMIM:614162
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Ventriculomegaly, Type I diabetes mellitus, Hepatitis, Eczematoid dermatitis, Failure t... OMIM:304790
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Common Variable Immunodeficiency
Pneumonia, Elevated circulating hepatic transaminase concentration, Bronchiectasis, Recurrent res... ORPHA:1572
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Proxi... OMIM:212065
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Generalized ... ORPHA:2348
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Elevated circulating hepatic transaminase... ORPHA:26793
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration, Failure to thrive, Trichorrhexis nodosa, Villous atroph... OMIM:614602
Birt-Hogg-Dubé Syndrome
Emphysema, Medullary thyroid carcinoma, Multiple lipomas, Pneumothorax, Parathyroid adenoma, Pulm... ORPHA:122
Hypocomplementemic Urticarial Vasculitis
Ascites, Emphysema, Episcleritis, Splenomegaly, Skin rash, Pleural effusion, Hematuria, Inflammat... ORPHA:36412
Secondary Short Bowel Syndrome
Central hypothyroidism, Volvulus, Failure to thrive, Cholestasis, Villous atrophy, Abnormal small... ORPHA:95427
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Small for gestational age, Maturity-onset diabetes of the young, Hyperinsu... ORPHA:324575
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... OMIM:615703
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... OMIM:278000
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Splenomegaly, Chroni... ORPHA:397596
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Abnormal biliary tract morphology, Abnormal... ORPHA:3032
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Villous atrophy, Hyperlipidemia, ... OMIM:615863
Macrocephaly-Intellectual Disability-Autism Syndrome
Penile freckling, Intestinal polyposis, Hepatic steatosis, Thyroid carcinoma, Multiple lipomas, A... ORPHA:210548
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestina... ORPHA:90362
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Alpha-Heavy Chain Disease
Alopecia, Ascites, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Anemia, Lymph... ORPHA:100025
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Syndromic Diarrhea
Lymphopenia, Colitis, Hepatoblastoma, Cirrhosis, Brittle hair, Hepatomegaly, Polycystic kidney dy... ORPHA:84064
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Morgagni diaphragmatic hernia, Gastroesophageal reflux, Recurrent pneumonia, Pe... OMIM:613177
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirub... OMIM:613658
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Respiratory tract infection, Microvillar PAS-positive secretory granules, Microv... OMIM:619445
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyp... OMIM:151660
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Weight loss, Abnormal nasal mucosa mo... ORPHA:797
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276575
Refractory Celiac Disease
Hypoalbuminemia, Protein-losing enteropathy, Normocytic anemia, Elevated circulating hepatic tran... ORPHA:398063
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Failure to thriv... OMIM:209920
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Psoriasifo... OMIM:243150
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Whipple Disease
Insulin resistance, Gastrointestinal hemorrhage, Uveitis, Mediastinal lymphadenopathy, Polydipsia... ORPHA:3452
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276580
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Cryptorchid... ORPHA:2849
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Pulmonary carcinoid tumor, Premature graying of hair, Emphysema, Abnormalit... ORPHA:363618
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Acquired Generalized Lipodystrophy
Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus... ORPHA:79086
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Premature graying of hair, Reduced subcutaneous adipose... ORPHA:280365
Nocardiosis
Cellulitis, Lymphadenitis, Scleritis, Weight loss, Anorexia, Endocarditis, Cutaneous abscess, Ost... ORPHA:31204
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Hemophagocytosi... OMIM:619858
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Eczematoid dermatitis,... OMIM:619510
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... OMIM:619868
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Recurrent lower res... ORPHA:60033
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Netherton Syndrome
Allergic rhinitis, Brittle scalp hair, Sparse eyebrow, Eczematoid dermatitis, Failure to thrive, ... OMIM:256500
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic ... ORPHA:276556
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin... OMIM:608594
Immunodeficiency 87 And Autoimmunity
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Elevated circulating alanin... OMIM:619573
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Failure to thri... ORPHA:300536
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Mediastinal lymphadenopathy, Enlarged lacrimal glands, Emphy... OMIM:181000
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal intestine morphol... ORPHA:391487
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased intestinal transit t... OMIM:619377
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morphology, Hemopha... OMIM:613101
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia,... ORPHA:79237
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Weight loss, Bronchiectasis ORPHA:1164
Bronchopulmonary Dysplasia
Small for gestational age, Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestrat... ORPHA:70589
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridem... OMIM:607616
Porphyria Cutanea Tarda
Portal inflammation, Hepatic steatosis, Decreased circulating hepcidin concentration, Cutaneous a... ORPHA:101330
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Graft Versus Host Disease
Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, I... ORPHA:39812
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Weight loss, ... OMIM:619381
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Reduced subcutaneous adipose tissue, Hepatic steatos... OMIM:269700
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Abnormal large intestinal mucosa morphology, Villou... ORPHA:92050
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... ORPHA:75234
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for gestational age OMIM:613217
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatomegaly, 3-Me... OMIM:557000
Mantle Cell Lymphoma
Splenomegaly, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy, Anorexia ORPHA:52416
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Gaucher Disease Type 2
Recurrent respiratory infections, Splenomegaly, Hepatomegaly, Flexion contracture, Dysphagia ORPHA:77260
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypo... OMIM:619013
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexio... OMIM:248370
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Premature graying of hair, Emphysema, Lymphopenia, Portal hypertension,... OMIM:620365
Trichohepatoenteric Syndrome 1
Cholestasis, Cirrhosis, Brittle hair, Curly hair, Hepatomegaly, Jaundice, Sparse hair, Hypospadia... OMIM:222470
Immunodeficiency 27A
Hypoalbuminemia, Pneumonia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased i... OMIM:209950
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyper... ORPHA:189427
Hypophosphatasia
Emphysema, Failure to thrive in infancy, Anemia, Hypercalcemia ORPHA:436
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Failu... ORPHA:79319
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi... ORPHA:436159
Bloom Syndrome
Neoplasm of the colon, Stomach cancer, Abscess, Sparse eyelashes, Abnormal proportion of CD8-posi... ORPHA:125
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... OMIM:606528
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Failure to thrive, Abnormal B cell count, Splenomegaly, Impaire... OMIM:269840
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal urinary color, Ascites, Emphysema... ORPHA:538
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Myoglobinuria, Cirrhos... ORPHA:264580
Idiopathic Achalasia
Gastroesophageal reflux, Bronchitis, Decreased circulating prealbumin concentration, Weight loss,... ORPHA:930
Isolated Agammaglobulinemia
Cellulitis, Pneumonia, Abnormality of neutrophils, Failure to thrive, Abnormal lymphocyte morphol... ORPHA:229717
Cog4-Cdg
Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra... ORPHA:263501
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Cellulitis, Splenomegaly, Recurrent sinopulmonary infections, Increased proportion of transitiona... OMIM:615513
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Ventriculomegaly, Hypertrichosis, Ascites, Pancreati... OMIM:235255
Sandhoff Disease
Failure to thrive, Splenomegaly, Abnormal glycosphingolipid metabolism, Hepatomegaly, Recurrent r... ORPHA:796
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Long penis, Hypertrichosis, Cho... OMIM:246200
Alg9-Cdg
Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Hypertrichosis, Abnormal lung lobation... ORPHA:79328
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Joint contracture of the hand, Arthrogryposis multiplex congenita, Failure to thrive... OMIM:601110
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic... OMIM:618400
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in li... OMIM:606721
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Anorexia, Elevated circulating aspartate aminotransferase concentrat... OMIM:619386
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen... ORPHA:79127
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormon... OMIM:617872
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D... OMIM:619048
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Skin rash, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Knee flexion contractur... OMIM:619708
Granulomatous Disease, Chronic, X-Linked
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelec... OMIM:306400
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity, Hepatic steatosis, Polyphagia, Red hair OMIM:620195
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... ORPHA:26792
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Recurrent pneumonia, Ventriculomegaly, Failure... OMIM:214150
Hepatoportal Sclerosis
Hypersplenism, Hyperbilirubinemia, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Ascit... ORPHA:64743
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Dorsocervical fat pad, Primary hypercortisolism, ... OMIM:615830
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decrease... OMIM:608612
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatic steatosis, Cirrhosis, Hepatomegaly, High palate, Neonatal hypoglycemia, Failure to thrive... OMIM:619418
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Urethral... ORPHA:90349
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... OMIM:616433
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Netherton Syndrome
Aminoaciduria, Sparse eyebrow, Eczematoid dermatitis, Fine hair, Abnormal hair morphology, Tricho... ORPHA:634
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Anemia, Cir... OMIM:606069
Citrullinemia Type Ii
Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Hypoproteinemia, Hyperac... ORPHA:247585
Alg6-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Puberty and gonadal disorders, Ab... ORPHA:79320
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Very long chain fatty acid... OMIM:264470
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Accumulation of lip... OMIM:246700
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Decreased liver function, Cholest... OMIM:608104
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Ventriculomegaly, Hypertrichosis, Ascites, Pancreati... ORPHA:1655
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Emphysema, Hypophosphatemic rickets, Stage 5 chronic kidney disease, L... OMIM:618913
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:913
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Mhc Class I Deficiency 1
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otiti... OMIM:604571
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Ex... OMIM:615952
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Alg12-Cdg
Recurrent hypoglycemia, Cryptorchidism, Low posterior hairline, Recurrent pharyngitis, Hypospadia... ORPHA:79324
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph... ORPHA:263455
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ... ORPHA:158057
Immunodeficiency 32B
Hypoalbuminemia, Pneumonia, Neutrophilia, Failure to thrive, Impaired oxidative burst, Splenomega... OMIM:226990
Werner Syndrome
Insulin resistance, Abnormal hair whorl, Gastrointestinal carcinoma, Chondrocalcinosis, Neoplasm ... ORPHA:902
Congenital Disorder Of Glycosylation, Type Iic
Cellulitis, Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent ... OMIM:266265
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Splenomegaly, Recu... OMIM:607594
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Wei... ORPHA:1332
Mucopolysaccharidosis-Plus Syndrome
Low posterior hairline, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic ste... OMIM:617303
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Coombs-p... OMIM:619375
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Sparse scalp hair, Increased ... ORPHA:99889
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Diarrhea 9
Villous atrophy, Failure to thrive OMIM:618168
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Low anterior hairline, Delayed puberty, Hyperinsulinemi... OMIM:616033
Felty Syndrome
Cellulitis, Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic oti... ORPHA:47612
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... ORPHA:42
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... OMIM:619802
Whim Syndrome
Cellulitis, Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphad... ORPHA:51636
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Villous atrophy, Reactive hypoglycemia, D... OMIM:600955
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pulmonary bulla, Hypochromic microcytic anemia, Pleural thickening, Elevated cir... OMIM:619632
Primary Ciliary Dyskinesia
Ventriculomegaly, Bronchiectasis, Nasal polyposis, Polysplenia, Atelectasis, Intestinal malrotati... ORPHA:244
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Ventriculomegaly, Recurrent pneumonia, Splenomegaly, Hepatomegaly, High ... OMIM:615637
Oculoskeletodental Syndrome
Protein-losing enteropathy, Elbow flexion contracture, Splenomegaly, Hypocalcemia, Low anterior h... OMIM:618440
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Respiratory tract infection, Autoim... ORPHA:444463
Zygomycosis
Cellulitis, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointest... ORPHA:73263
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Dpm1-Cdg
High, narrow palate, Hepatic fibrosis, Ventriculomegaly, Elevated circulating hepatic transaminas... ORPHA:79322
Familial Multiple Lipomatosis
Insulin resistance, Ventriculomegaly, Hyperlipidemia, Lipodystrophy, Functional intestinal obstru... ORPHA:199276
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Meier-Gorlin Syndrome 6
Gastroesophageal reflux, Failure to thrive, Umbilical hernia, Emphysema, Decreased response to gr... OMIM:616835
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Leptin Deficiency Or Dysfunction
Recurrent pneumonia, Recurrent upper respiratory tract infections, Hypogonadism, Decreased testic... OMIM:614962
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Alpha-Mannosidosis
Recurrent respiratory infections, Type II diabetes mellitus, Inguinal hernia, Splenomegaly, Arthr... ORPHA:61
Leprechaunism
Facial hypertrichosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Decreased body weig... ORPHA:508
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Hypogonadotropi... ORPHA:298
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hypoplasia of the thymus, Impaired ... OMIM:300400
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells, Stomatitis OMIM:618307
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level OMIM:223100
Temple Syndrome
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Recurrent otitis media, De... OMIM:616222
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypospadias, Ventriculomegaly, Self-injurious behavior, Obesity, Hyperlipidem... ORPHA:254346
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... OMIM:619164
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cellulitis, Elbow flexion contracture, Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Knee ... OMIM:604416
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Hepatom... OMIM:266510
Melioidosis
Cellulitis, Pneumonia, Brain abscess, Hepatitis, Foot osteomyelitis, Parotitis, Cutaneous abscess... ORPHA:31202
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ski... OMIM:603552
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Alopecia, Gastroesophageal reflux, Elevated circulating hepatic transaminase concent... ORPHA:2959
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Elevated circulating creatine kinase concentration, Decreased cervica... ORPHA:254361
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Keratitis, Failure to thrive, Graves dis... ORPHA:525731
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Liver Disease, Severe Congenital
Dry hair, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Pul... OMIM:619991
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Decreased circulating carnitine concentration, Hepa... OMIM:201475
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Hernia, Recurrent pharyngitis, Hi... ORPHA:168569
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Hepatome... OMIM:203800
Microlissencephaly
Pneumonia, Ventriculomegaly ORPHA:1083
Caspase 8 Deficiency
Pneumonia, Eczematoid dermatitis, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Recur... OMIM:607271
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Absent circulating B cells, Generalized lymphade... OMIM:620282
Loeys-Dietz Syndrome 4
High, narrow palate, Bifid uvula, Broad uvula, Emphysema, Inguinal hernia, Eosinophilic infiltrat... OMIM:614816
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... ORPHA:905
Fusariosis
Cellulitis, Abnormality of the spleen, Lymphopenia, Neutropenia, Granuloma, Osteomyelitis, Abnorm... ORPHA:228119
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Cellulitis, Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia,... OMIM:618986
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Muscular Hypertonia, Lethal
Pneumonia, Umbilical hernia OMIM:254120
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Recurrent respiratory infections, Hyperglycinemia, Lacticaciduria OMIM:619063
Omenn Syndrome
Pneumonia, Alopecia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegal... ORPHA:39041
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Pulmonary hemorrhage, Neutrophilia, ... OMIM:619644
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Neutr... OMIM:613502
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... OMIM:613489
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... OMIM:620357
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Weight loss, Cleft palate, Aspiration pneumonia ORPHA:141152
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Gastroesophageal reflux, Failure to thrive, Decreased liver function, Hepatic steatosis, Hypopigm... ORPHA:70472
Rabson-Mendenhall Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced subcutaneous adipose tiss... ORPHA:769
Wolman Disease
Hepatic failure, Ascites, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Hepatomegal... ORPHA:75233
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome... OMIM:617591
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Abnormal hair morphology, General... ORPHA:79474
Fabry Disease
Nephropathy, Abnormal circulating lipid concentration, Emphysema, Hyperlipidemia, Renal insuffici... ORPHA:324
Shigellosis
Microangiopathic hemolytic anemia, Cholestasis, Urethritis, Abscess, Anorexia, Abnormal blood ion... ORPHA:810
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Neonatal Marfan Syndrome
High, narrow palate, Emphysema, Decreased testicular size, Flexion contracture, Lipoatrophy, Smal... ORPHA:284979
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Failure to thrive, Duodenal stenosis, Horseshoe kidney, Vesic... ORPHA:2470
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... OMIM:300853
Schaaf-Yang Syndrome
Gastroesophageal reflux, Failure to thrive in infancy, Hypogonadism, Obesity, Thick eyebrow, Cryp... OMIM:615547
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Villous atrophy, Duodenitis, Pustule, Erythroderma, Blepharitis OMIM:614328
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circul... ORPHA:90790
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventriculomegaly, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Recurrent respiratory infe... OMIM:620210
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, O... ORPHA:470
Bronchial Neuroendocrine Tumor
Pneumonia, Increased serum serotonin, Hepatic failure, Increased circulating cortisol level, Incr... ORPHA:97287
Mody
Nephropathy, Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancrea... ORPHA:552
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Fair hair, Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Hydrocepha... OMIM:269920
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Legionnaires Disease
Cellulitis, Bone marrow hypocellularity, Abnormal lung morphology, Hepatitis, Anorexia, Lymphopen... ORPHA:549
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture OMIM:608540
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
Autosomal Agammaglobulinemia
Cellulitis, Bronchiectasis, Hepatitis, Recurrent respiratory infections, Failure to thrive, Osteo... ORPHA:33110
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptor... ORPHA:3085
Mucopolysaccharidosis, Type Iiic
Recurrent upper respiratory tract infections, Coarse hair, Hypertrichosis, Heparan sulfate excret... OMIM:252930
D-Glyceric Aciduria
Hyperglycinuria, Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hypergl... ORPHA:941
Mirage Syndrome
Aspiration pneumonia, Lymphopenia, Cryptorchidism, Decreased body weight, Achalasia, Hyperkalemia... OMIM:617053
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Omphalocele, Pancreatic fibrosis, Hepa... OMIM:200995
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Elevated circulating hepatic tr... ORPHA:2137
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
Familial Chylomicronemia Syndrome
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... ORPHA:444490
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Dicarbo... OMIM:212140
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Hemochromatosis, Type 1
Alopecia, Elevated circulating hepatic transaminase concentration, Increased circulating iron con... OMIM:235200
Rigid Spine Syndrome
Elbow flexion contracture, Hamstring contractures, Pneumonia, Hip contracture ORPHA:97244
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anemia, Arthriti... OMIM:620321
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased response to growth hormone stimulation test, Obesity, Hyperbilirubinemia, ... OMIM:609734
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph nod... OMIM:620233
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Fatal liver failure in inf... ORPHA:275761
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Polycystic ov... ORPHA:79259
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Hepatosplenomegaly, Hepatic steatosis, Chilblains, Weight loss, Glo... OMIM:619487
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Abnorm... ORPHA:1163
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Ventriculomegaly, Polysplenia, Decreased response to growth hormone stimulation... OMIM:617784
Magel2-Related Prader-Willi-Like Syndrome
Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Increased... ORPHA:398069
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Spar... OMIM:610768
Mitchell-Riley Syndrome
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... OMIM:615710
Proteus Syndrome
Cerebriform connective tissue nevus, Splenomegaly, Multiple lipomas, Lipoma, Lymphangioma OMIM:176920
Meier-Gorlin Syndrome 1
Joint contracture of the hand, Gastroesophageal reflux, Failure to thrive, Emphysema, Breast hypo... OMIM:224690
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Tubulointerstitial nephritis, Hepatomega... ORPHA:228308
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Anorectal anomaly, Abnormality of the spleen, Abnormality of the liver, ... ORPHA:1834
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Volvulus,... ORPHA:90363
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Failur... OMIM:615486
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Homocystinuria, Failure to thrive, Inguinal hernia, Hepatic steatosis, Pancre... OMIM:236200
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia OMIM:602079
Esophageal Atresia
Esophagitis, Abnormal gastrointestinal tract morphology, Oral aversion, Dysphagia, Duodenal atres... ORPHA:1199
Aredyld Syndrome
Type I diabetes mellitus, Sparse body hair, Abnormal dental enamel morphology, Abnormality of the... ORPHA:1133
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, L... ORPHA:169160
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch... ORPHA:247598
Adrenomyodystrophy
Failure to thrive, Megacystis, Primary adrenal insufficiency, Hepatic steatosis, Abnormal intesti... ORPHA:977
Eosinophilic Gastroenteritis
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Allergic rhinitis, Atopic dermatitis, ... ORPHA:2070
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Pneumonia, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis... ORPHA:486
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dysphagia, Abnormal glucose homeostasis, Elevated circulating creatine kina... ORPHA:90117
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Splenomegaly, Recurrent sinus... OMIM:240500
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Temple Syndrome
Precocious puberty, Bifid uvula, Recurrent hypoglycemia, Decreased response to growth hormone sti... ORPHA:254516
Cyclic Neutropenia
Cellulitis, Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic n... ORPHA:2686
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Pulmonary hypoplasia, Renal hypoplasia, Atelectasis, Hamartoma of tongue, In... OMIM:269860
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Elevated... OMIM:615688
Aicardi-Goutieres Syndrome 7
Pancytopenia, Hepatic steatosis, Chilblains, Weight loss, Hepatomegaly, Nephrotic syndrome, Recur... OMIM:615846
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Adrenal gland agenesis, Urethral atresia, Hydrocephalus, Aspleni... OMIM:273395
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Lymphope... OMIM:616100
Focal Dermal Hypoplasia
Alopecia, Gastroesophageal reflux, Multicystic kidney dysplasia, Camptodactyly of finger, Umbilic... ORPHA:2092
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchiolitis, Small bowel diver... ORPHA:90348
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Failure to ... ORPHA:79301
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypertrichosis, Ascit... ORPHA:2905
Coproporphyria, Hereditary
Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Increased urinary porpho... OMIM:121300
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Anal... OMIM:618935
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Hepatitis, White hair, Premature graying of hair, ... ORPHA:381
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... ORPHA:811
Cutis Laxa, Autosomal Recessive, Type Ia
Peripheral pulmonary artery stenosis, Umbilical hernia, Emphysema, Inguinal hernia, Congenital di... OMIM:219100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... OMIM:233710
Prader-Willi Syndrome
Hyperinsulinemia, Frontal upsweep of hair, Type II diabetes mellitus, Cryptorchidism, Polyphagia,... OMIM:176270
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Ventriculomegaly, Small for gestational age, Hypoglycemia, Aspiration pneumonia, Hyp... OMIM:618253
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Elevated circulating hepatic tran... OMIM:614576
Huntington Disease
Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha... ORPHA:399
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Recur... ORPHA:333
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,... ORPHA:699
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis... OMIM:618805
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Frontal balding, Decreased circulating T4 concentrat... ORPHA:64
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Recurrent pharyng... ORPHA:42642
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... OMIM:233690
Galactosemia Iii
Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice, Hypergalact... OMIM:230350
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Maternal diabetes, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Fryns Syndrome
Joint contracture of the hand, Cryptorchidism, Anal atresia, Hypospadias, Duodenal atresia, Ompha... OMIM:229850
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megal... OMIM:620603
Maternal Uniparental Disomy Of Chromosome 6
Ventriculomegaly, Eczematoid dermatitis, Congenital adrenal hyperplasia, Inguinal hernia, Increas... ORPHA:96181
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pulmonary hemorrhage, Pancytopenia, H... ORPHA:79124
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepato... OMIM:616263
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Digeorge Syndrome
Recurrent otitis media, Hepatic steatosis, Ovarian cyst, High palate, High, narrow palate, Cholel... OMIM:188400
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Alopecia, Dystrophic toenail, Sparse body hair, Anorexia, Furrowed to... ORPHA:2930
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemo... OMIM:618495
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell... OMIM:618806
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevate... OMIM:256810
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancy... OMIM:308240
Grfoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o... ORPHA:97261
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash,... OMIM:612714
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Omenn Syndrome
Pneumonia, Alopecia, Severe B lymphocytopenia, Failure to thrive, Splenomegaly, Hypoplasia of the... OMIM:603554
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Fryns Syndrome
Ventriculomegaly, Gastroesophageal reflux, Multicystic kidney dysplasia, Intestinal malrotation, ... ORPHA:2059
Immunodeficiency 54
Reduced natural killer cell count, Failure to thrive, Adrenal insufficiency, Splenomegaly, Adreno... OMIM:609981
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... OMIM:618534
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Intestinal pseudo-obstruction, Umbilical hernia, Hypertrichosis, Recurrent o... OMIM:309900
Hurler-Scheie Syndrome
Splenomegaly, Hernia, Generalized hirsutism, Abnormality of the tonsils, Hepatomegaly, Rhinitis ORPHA:93476
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Increased circulating prolactin concentration, Hyperglycemia, Polyphagia, R... ORPHA:293987
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Glomerulonephritis, Albuminuria, Recurrent skin infe... ORPHA:90291
Immunodeficiency 7
Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ... OMIM:615387
Adult-Onset Still Disease
Weight loss, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatomegaly, L... ORPHA:829
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cry... ORPHA:398079
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... ORPHA:445038
Scedosporiosis
Pneumonia, Abnormal jejunum morphology, Bronchitis, Osteomyelitis, Pleuritis, Arthralgia/arthriti... ORPHA:449280
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Conj... OMIM:601847
Roifman Syndrome
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Splenome... OMIM:616651
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Hyper... OMIM:613385
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Splenomegaly, Omphalocele, Aqueductal stenosis, Pulmonary hypoplasia ORPHA:3035
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Wolman Disease
Failure to thrive, Acute hepatic failure, Adrenal calcification, Splenomegaly, Hepatomegaly OMIM:620151
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Diabetes mellitus OMIM:608320
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatit... OMIM:620565
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circulat... OMIM:617253
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Hypereosinophilia, Pleural effusion, Leukocytosis, Abnormality of... ORPHA:2902
Potocki-Lupski Syndrome
Gastroesophageal reflux, Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hypot... OMIM:610883
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Recurrent upper respiratory tract infections, Reduced ... OMIM:301082
Smith-Lemli-Opitz Syndrome
Recurrent otitis media, Hepatic steatosis, Cryptorchidism, Cirrhosis, Hepatomegaly, Hypospadias, ... OMIM:270400
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... ORPHA:369840
Meier-Gorlin Syndrome 4
Emphysema, Breast hypoplasia, Failure to thrive, Cryptorchidism OMIM:613804
Bacterial Toxic-Shock Syndrome
Cellulitis, Abscess, Glomerulonephritis, Recurrent skin infections, Elevated circulating creatini... ORPHA:36234
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... OMIM:214900
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Unilateral renal agenesis, Ventriculomegaly, Renal hypoplasia, Abnormal circu... OMIM:616541
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Failure to thri... ORPHA:17
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Ventriculomegaly, Elevated circulating hepatic transam... ORPHA:404454
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Bronchiectasis, Eczematoid dermatitis, Failure to thrive, Abnormality of co... ORPHA:79128
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Cryptorchidism, Pulmonary lymphangiectasia, Ectopic kidney, Rectal... OMIM:235510
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenal hyperplasia, Polycystic o... ORPHA:95699
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hypogonadism, Obesity, Renal insufficiency, Hepatic steatosis, Hydronephrosis OMIM:615996
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Hyperbili... OMIM:301068
Mosaic Trisomy 9
Ventriculomegaly, Camptodactyly of finger, Intestinal malrotation, Abnormal lung lobation, Horses... ORPHA:99776
Viss Syndrome
Cleft soft palate, Contracture of the proximal interphalangeal joint of the 2nd toe, Celiac disea... OMIM:619472
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Neutropenia, Hepatomegaly, Recurrent lower respi... OMIM:612541
Leptin Receptor Deficiency
Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te... OMIM:614963
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increas... OMIM:618982
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Pulmonary lymphangiectasia, Anal atresia, Hypospadias, Duod... OMIM:265380
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Failure to thrive, Polysplenia, Abdominal situs inversus... OMIM:306955
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:86893
Glycogen Storage Disease Iv
Hepatic failure, Failure to thrive, Ascites, Hepatosplenomegaly, Abnormal circulating creatine ki... OMIM:232500
Abetalipoproteinemia
Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypotriglyceridem... ORPHA:14
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Pneumonia, Recurrent upper respiratory tract infections, Decreased urinary urate, F... OMIM:613179
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Coarse hair, Umbilical hernia, Heparan sulfate excr... OMIM:252900
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Q Fever
Hepatosplenomegaly, Hematuria, Weight loss, Anorexia, Hepatomegaly, Endocarditis, Granuloma, Oste... ORPHA:781
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia, Hypocalcific... ORPHA:169090
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Usual interstitial pneumonia, Increas... OMIM:620367
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177904
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function OMIM:601466
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Long penis, Insulin-resistant diabetes mellitus, ... OMIM:262190
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Leukopenia, Hepatic steatosis, 3-Methylglutaconic aciduria, Neutropenia, Thr... OMIM:616271
Cushing Disease
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... ORPHA:96253
Ellis Van Creveld Syndrome
Acute leukemia, Hydroureter, Failure to thrive, Abnormal hair morphology, Emphysema, Abnormality ... ORPHA:289
Distal Deletion 12Q
Obsessive-compulsive trait, Ectopic kidney, Polycystic kidney dysplasia, Duodenal atresia, High, ... ORPHA:96149
Proteus Syndrome
Pulmonary cyst, Generalized hirsutism, Cachexia, Pulmonary bulla, Abnormal subcutaneous fat tissu... ORPHA:744
Gm1 Gangliosidosis
Gastroesophageal reflux, Ganglioside accumulation, Failure to thrive, Camptodactyly of finger, As... ORPHA:354
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177901
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventriculomegaly, Failure to thrive, Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Le... OMIM:618278
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Pulmonary cyst, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagi... OMIM:147060
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98754
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Elevated circulating aspartate ami... OMIM:170100
Babesiosis
Hepatic failure, Anorexia, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Recur... ORPHA:108
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, H... OMIM:614921
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Intrah... OMIM:211600
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Aplastic anemia, Abnormal lung lobation, Hypogonadism, Tracheoesophageal fistul... OMIM:300514
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun... ORPHA:276
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Eczematoid dermatitis, Elevated haptoglobin level, Intestinal lymphangiectasia, ... OMIM:620632
D-Bifunctional Protein Deficiency
Fetal ascites, Elevated circulating hepatic transaminase concentration, Increased circulating ver... OMIM:261515
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... ORPHA:35878
Cebalid Syndrome
Highly arched eyebrow, Thick eyebrow, Congenital diaphragmatic hernia, Polyphagia, High palate OMIM:618774
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... OMIM:614582
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 concentration, Attention deficit hyperactiv... OMIM:301033
Primary Biliary Cholangitis
Xanthelasma, Cirrhosis, Hepatomegaly, Jaundice, Celiac disease, Esophageal varix, Ascites, Abnorm... ORPHA:186
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Decreased proportion of CD4-positive helper... ORPHA:2552
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... OMIM:618963
Juvenile Polyposis Syndrome
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal polyposis... ORPHA:2929
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Sparse eyebrow, Gastroesophageal reflux, Progressive ventriculomegaly, Lateral ventr... ORPHA:500150
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Eosinophilia, Bronchiectasis OMIM:617638
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia... OMIM:615122
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Failure to thrive, Hypocalcemic tetany, Recurrent infection of ... ORPHA:83471
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Congenital diaphragmatic herni... OMIM:611812
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Cellulitis, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Intestinal obstruction, S... ORPHA:32960
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Recurrent otitis media, Recurrent sinu... OMIM:615482
Follicular Lymphoma
Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Med... ORPHA:545
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Jacobsen Syndrome
Bone marrow hypocellularity, Ventriculomegaly, Multicystic kidney dysplasia, Annular pancreas, Ec... ORPHA:2308
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Dextrocardia
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung lobatio... ORPHA:1666
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Abnormal lung lobation, Hydronephrosis, Adrenal gland dysgenesis, ... OMIM:236680
Short Syndrome