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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,  Lip1,  Lip-1

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
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Adrenal calcification, Hypertriglyceridem... ORPHA:75234
Wolman Disease
Adrenal insufficiency, Hepatomegaly, Splenomegaly, Hepatic failure, Adrenal calcification, Steato... ORPHA:75233

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
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br... OMIM:613490
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatos... OMIM:612526
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology ORPHA:2398
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Type I diabetes mellitus, Erythroderma, Decreased proportion of CD4+CD... OMIM:606367
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Otitis media, Eczema, T lymphocytopenia, Chr... OMIM:608971
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Mandibuloacral Dysplasia
High palate, Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lip... ORPHA:2457
Immunodeficiency 31C
Lymphopenia, Eczema, Hypothyroidism, Villous atrophy, Chronic mucocutaneous candidiasis, Delayed ... OMIM:614162
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Generalized hirsutism, Reduced intraabdominal adipose tissue... ORPHA:363400
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Hepatomegaly, Hypoxemia, Splenomegaly, Mediastinal lymphadenopathy, Abnormal pulm... OMIM:612387
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Hirsutism, Hyperinsulinemia, Hepatomegaly, Failure to thrive, Flexion contracture, Splenom... OMIM:613327
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Uveitis, Type I diabetes mellitus, Pneumonia, Pancytopenia, Lymphadenopathy, C... OMIM:614700
Congenital Generalized Lipodystrophy
Failure to thrive, Hypertrichosis, Low anterior hairline, Hepatomegaly, Hyperinsulinemia, Precoci... ORPHA:528
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Insu... OMIM:604367
Acquired Partial Lipodystrophy
Generalized hirsutism, Lipoatrophy, Lymphocytosis, Microscopic hematuria, Proteinuria, Insulin re... ORPHA:79087
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cir... OMIM:602579
Common Variable Immunodeficiency
Anal atresia, Lymphopenia, Splenomegaly, Gastrointestinal stroma tumor, Otitis media, Autoimmune ... ORPHA:1572
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Hepatomegaly, Skin rash, Splenomegaly, Dyspnea, Hematuria, Arthritis, Cough, ... ORPHA:36412
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hypocalcemia, Hepatomegaly, Inflammatory abnormality of the skin, Hypoprote... ORPHA:26793
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Insulin... ORPHA:2348
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Alopecia, Eosinophilia, Eczema, Autoi... OMIM:304790
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Insulin resistance,... ORPHA:79083
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonad... OMIM:212065
Trichohepatoenteric Syndrome 2
Failure to thrive, Colitis, Hepatomegaly, Sparse hair, Woolly hair, Brittle hair, Small for gesta... OMIM:614602
Secondary Short Bowel Syndrome
Failure to thrive, Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestina... ORPHA:95427
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Insulin resistance, Loss ... ORPHA:435660
Alpha-1-Antitrypsin Deficiency
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice ORPHA:60
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Whipple Disease
Hydrocephalus, Polydipsia, Hepatomegaly, Myocarditis, Uveitis, Gastrointestinal hemorrhage, Peric... ORPHA:3452
Birt-Hogg-Dubé Syndrome
Medullary thyroid carcinoma, Pulmonary sequestration, Parathyroid adenoma, Multiple lipomas, Emph... ORPHA:122
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessi... ORPHA:324575
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Insulin resistance, Decreased serum leptin, Lipodystrophy, Hypertri... ORPHA:79085
Alpha-Heavy Chain Disease
Malabsorption, Hypocalcemia, Hepatomegaly, Alopecia, Splenomegaly, Abnormality of the small intes... ORPHA:100025
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, ... OMIM:615863
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Dandy-Walker malformation, Intestinal malrotation, Multicystic... ORPHA:3032
Syndromic Diarrhea
Hepatomegaly, Hepatoblastoma, Gastritis, Abnormality of iron homeostasis, Peripheral pulmonary ar... ORPHA:84064
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... ORPHA:60033
Isolated Agammaglobulinemia
Failure to thrive, Malabsorption, Sinusitis, Cellulitis, Otitis media, Skin rash, Abnormality of ... ORPHA:229717
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Small for gestational age, Right vent... ORPHA:70589
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Increased stool ... ORPHA:90362
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Hypertriglycerid... OMIM:615381
Sarcoidosis
Hepatomegaly, Hepatic failure, Alopecia, Maculopapular exanthema, Abnormal pleura morphology, Uve... ORPHA:797
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Cholestasis, Esophageal varix, Pancytopenia, Bile duct proliferation, Respiratory fa... OMIM:613658
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Apl... OMIM:242700
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Polycystic ov... OMIM:151660
Refractory Celiac Disease
Malabsorption, Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Inflammatory abno... ORPHA:398063
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Villous atrophy, Respiratory tract infection, Bronch... OMIM:619445
Primary Lipodystrophy
Type II diabetes mellitus, Pancreatitis, Lipoatrophy, Hyperlipidemia, Splenomegaly, Insulin resis... ORPHA:90970
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Recurrent upper respiratory tract inf... OMIM:209920
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Emphysema, Portal hypertension, Hepatic failure OMIM:210050
Primary Pigmented Nodular Adrenocortical Disease
Alopecia, Acne, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fat tissue di... ORPHA:189439
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Allergic Bronchopulmonary Aspergillosis
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... ORPHA:1164
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Omphalocele, Colonic atresia, Jejunal atresia, Recurrent respiratory infections, Ly... OMIM:243150
Netherton Syndrome
Sparse scalp hair, Asthma, Malabsorption, Aminoaciduria, Sparse eyebrow, Sparse eyelashes, Skin r... ORPHA:634
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Inguinal hernia, High, narrow palat... ORPHA:2849
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Lipoatrophy, Sparse hair, Absent eyebrow, Hypertriglyceridemia, Abnormality... ORPHA:363618
Nocardiosis
Keratitis, Respiratory distress, Lymphadenitis, Pneumonia, Pericarditis, Weight loss, Respiratory... ORPHA:31204
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Lipodystrophy, Polycystic ovarie... ORPHA:280365
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Acquired Generalized Lipodystrophy
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, ... ORPHA:79086
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Decrease... ORPHA:435651
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosp... OMIM:619858
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Alopecia, Glycosuria, Abnormalit... ORPHA:2298
Osteootohepatoenteric Syndrome
Failure to thrive, Asthma, Hypokalemia, Microvesicular hepatic steatosis, Grade II vesicoureteral... OMIM:619377
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... OMIM:610717
Immunodeficiency 48
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Pneumonia, Absence of CD8-p... OMIM:269840
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... OMIM:300635
Galactokinase Deficiency
Increased level of galactitol in urine, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small ... ORPHA:79237
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Flexion contracture, Splenomegaly, Cough, Dysphagia, Abnormal... ORPHA:77260
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Nephrolithiasis, Hirsutism, Reduced intraabdominal adipose t... OMIM:608594
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Hepatomegaly, Uveitis, Enlarged lacrimal glands, Pancytopenia, Weight loss, Spleno... OMIM:181000
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Emphysema ORPHA:171719
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, B lymphocytopenia, Type I diabetes mellitus, Abnormality of the endocrine system, Inflamm... ORPHA:391487
Ddost-Cdg
Failure to thrive, Gastroesophageal reflux, Nephrotic range proteinuria, Elevated hepatic transam... ORPHA:300536
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... OMIM:232700
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... ORPHA:181393
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Lymphopenia, Recurrent respiratory infections, Eczema, T lymphocytopenia, Villous... OMIM:619510
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... OMIM:613101
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Excessive insu... ORPHA:276556
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Cough, Hypothyroidism, Elevated h... OMIM:619013
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Umbilical her... OMIM:269700
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Sparse scalp hair,... OMIM:248370
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Cholestatic liver disease, Elevated fecal osmolality, Abnormal large... ORPHA:92050
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Lipodystr... OMIM:615238
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating C-reactive protein concentration, Cleft palate, Hepatic failur... OMIM:619573
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema OMIM:614100
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hirs... ORPHA:189427
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,... ORPHA:293964
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Adrenal calcification, Hypertriglyceridem... ORPHA:75234
Hypophosphatasia
Respiratory insufficiency, Hypercalcemia, Emphysema, Anemia, Failure to thrive in infancy ORPHA:436
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, 3-Methylglutaric aciduria, Hepatic failure, Stea... OMIM:557000
Graft Versus Host Disease
Recurrent gastroenteritis, Hemophagocytosis, Maculopapular exanthema, Lipodystrophy, Pneumonia, J... ORPHA:39812
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Apnea, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate l... OMIM:619048
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Alopecia, Hypergonadotropic hypogonadis... OMIM:203800
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Respiratory distress, Ketoti... ORPHA:26792
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Stomach cancer... ORPHA:125
Mpi-Cdg
Decreased liver function, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothy... ORPHA:79319
Idiopathic Achalasia
Gastroesophageal reflux, Decreased prealbumin level, Cough, Wheezing, Recurrent aspiration pneumo... ORPHA:930
Trichohepatoenteric Syndrome 1
Hepatomegaly, Sparse hair, Hepatic failure, Abnormality of the pancreas, Cholestasis, Hypermethio... OMIM:222470
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Villous atrophy, Arthritis, Small for gestational age OMIM:613217
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymph... ORPHA:1414
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Failure to thrive, Hyperinsulinemia, Hypoglycemia, Generalized aminoac... OMIM:606528
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hypertrichosis, Increased fecal porphyrin, Decrease... ORPHA:101330
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Esophageal varix, Polycystic ovaries, Portal f... ORPHA:370
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Temple Syndrome
High palate, Recurrent otitis media, Hydrocephalus, Flexion contracture, Cleft palate, Maturity-o... OMIM:616222
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic ... OMIM:607765
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Pneumonia, W... OMIM:619381
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Donohue Syndrome
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Precocious puberty, Severe failure ... OMIM:246200
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
H Syndrome
Hypertrichosis, Hydrocephalus, Alopecia, Enlarged kidney, Lipodystrophy, Hypogonadism, Malabsorpt... ORPHA:168569
Netherton Syndrome
Sparse scalp hair, Failure to thrive, Asthma, Intestinal atresia, Brittle hair, Sparse eyebrow, B... OMIM:256500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Respiratory distress, Gastritis, Alopecia, Eczema, Decreased prealbumi... ORPHA:37042
Congenital Disorder Of Glycosylation, Type Id
High palate, Failure to thrive, Joint contracture of the hand, Flexion contracture, Bifid uvula, ... OMIM:601110
Alg9-Cdg
Asthma, Hypertrichosis, Hypoplasia of the ovary, Hepatomegaly, Periportal fibrosis, Gastroesophag... ORPHA:79328
Lymphangioleiomyomatosis
Abnormal urinary color, Hydrocephalus, Chylothorax, Renal angiomyolipoma, Dyspnea, Abnormality of... ORPHA:538
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Esophageal varix, Polycystic ovaries, Increase... ORPHA:264580
Pfapa Syndrome
Malabsorption, Hepatomegaly, Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephali... ORPHA:42642
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hypertrichosis, Hypocalcemia, Hepatomegaly, Inguinal hernia, Splenomegaly, Hepatic f... OMIM:235255
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Sparse hair, Lipodystrophy, Lack of facial subcutaneous fat,... OMIM:606721
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Adrenocort... ORPHA:913
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Lacticaciduria, Elevated circulating creatine... OMIM:619386
Immunodeficiency 14A, Autosomal Dominant
Cellulitis, Splenomegaly, Recurrent sinopulmonary infections, T lymphocytopenia, Decreased propor... OMIM:615513
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Pulmonary hypoplasia, Pneumonia... ORPHA:95430
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Osteo... OMIM:606069
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia, Intestinal atresia, Inflammation of the large intestine, Pulmonary hypoplasia, Knee ... OMIM:619708
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Sparse hair, Flexion contract... OMIM:608612
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Inguinal hernia, Urethral diverticulum, Respiratory insuffi... ORPHA:90349
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... OMIM:619868
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubul... OMIM:618913
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Hirsutism, Joint contracture of the hand, Flexion contracture, Small for gesta... OMIM:214150
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Asthma, Elevated circulating C-reactive protein concentration, Pleural thickenin... OMIM:619632
Multiple Endocrine Neoplasia Type 4
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hirsutism, Increased circulating cortisol level, Alopecia, Adrenal hyperplasia, Acne, Primary hyp... OMIM:615830
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Multiple pulmonary cysts, Prolonged... OMIM:619418
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... ORPHA:42
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Sandhoff Disease
Failure to thrive, Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:796
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Elevated circulating C-reactive protein concentration, Alopecia, Increased proporti... OMIM:615559
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... OMIM:604571
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Alg6-Cdg
Failure to thrive, Jaundice, Macroglossia, Decreased LDL cholesterol concentration, Protein-losin... ORPHA:79320
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic fa... ORPHA:79303
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Neoplasm of the lung,... ORPHA:1332
Felty Syndrome
Hepatomegaly, Bone marrow hypocellularity, Pericarditis, Rhinitis, Weight loss, Lymphadenopathy, ... ORPHA:47612
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Desquama... OMIM:615952
Cholestasis-Lymphedema Syndrome
Malabsorption, Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Elevated hepati... OMIM:214900
Cutis Laxa, Autosomal Recessive, Type Ic
Bladder diverticulum, Gastroesophageal reflux, Inguinal hernia, Tracheomalacia, Pyloric stenosis,... OMIM:613177
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Cirrhosis, Hepatosplenomegaly, Recurrent upper... ORPHA:263501
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Coarse hair, Enlarged kidney, Long eyelashes, Proteinuria, Bo... OMIM:617303
Diarrhea 9
Failure to thrive, Villous atrophy OMIM:618168
Loeys-Dietz Syndrome 4
High palate, High, narrow palate, Eosinophilic infiltration of the esophagus, Inguinal hernia, Bi... OMIM:614816
Peroxisomal Acyl-Coa Oxidase Deficiency
Dysphagia, Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Autosomal Agammaglobulinemia
High palate, Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Cellulitis, Recurrent sk... ORPHA:33110
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Werner Syndrome
Pili torti, Sparse scalp hair, Slender build, Type II diabetes mellitus, Lipoatrophy, Ovarian neo... ORPHA:902
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Multiple joint contractures, Decreased serum testosterone concentration... ORPHA:2959
Oculoskeletodental Syndrome
Low anterior hairline, Hepatomegaly, Hypocalcemia, Macroglossia, Splenomegaly, Small for gestatio... OMIM:618440
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Respiratory ... ORPHA:444463
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hypertrichosis, Hypocalcemia, Hepatomegaly, Inguinal hernia, Splenomegaly, Hepatic f... ORPHA:1655
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Gastroesophageal reflux, Central sleep apnea, Hypopi... ORPHA:70472
Alg12-Cdg
B lymphocytopenia, Elevated hepatic transaminase, Ventriculomegaly, Hyponatremia, Decreased serum... ORPHA:79324
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormalit... ORPHA:79301
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Failure to thrive, Hepatomegaly, Cryptorchidism, Cholestasis, Camptodac... OMIM:608104
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... OMIM:619802
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Gastroesophageal reflux, Hyperammonem... OMIM:201475
Fabry Disease
Malabsorption, Hyperlipidemia, Nephrotic syndrome, Chronic pulmonary obstruction, Abnormal circul... ORPHA:324
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnormal... ORPHA:263455
Meier-Gorlin Syndrome 6
Failure to thrive, Gastroesophageal reflux, Decreased response to growth hormone stimulation test... OMIM:616835
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal respiratory system physiology, Abnormal pleura morph... ORPHA:50251
Leptin Deficiency Or Dysfunction
Micropenis, Recurrent upper respiratory tract infections, Decreased serum leptin, Abnormal eating... OMIM:614962
Leprechaunism
Reduced subcutaneous adipose tissue, Hypertrichosis, Hyperinsulinemia, Hepatomegaly, Facial hyper... ORPHA:508
Omenn Syndrome
Failure to thrive, Hepatomegaly, Hypoproteinemia, Alopecia, Splenomegaly, Eosinophilia, Hypoplasi... OMIM:603554
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Cleft palate, Aspiration pneumonia, Weight loss, Upper airway obstruction, ... ORPHA:141152
Familial Multiple Lipomatosis
Hyperlipidemia, Lipodystrophy, Ventriculomegaly, Increased adipose tissue, Insulin resistance, Fu... ORPHA:199276
Alpha-Mannosidosis
Narrow palate, Type II diabetes mellitus, Hepatomegaly, Inguinal hernia, Splenomegaly, Macrogloss... ORPHA:61
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... OMIM:277900
Dpm1-Cdg
Failure to thrive, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Elevated circulating cr... ORPHA:79322
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Pneumonia, Absence of CD8-posit... ORPHA:911
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Elevated circulating C-reactive protein concentration, Cellulitis, Hepatosp... OMIM:604416
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Low anterior hairline, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus, Delay... OMIM:616033
X-Linked Agammaglobulinemia
Alopecia, Abnormality of the tonsils, Abnormal lung morphology, Weight loss, Malabsorption, Osteo... ORPHA:47
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Mitochondrial Neurogastrointestinal Encephalomyopathy
Atrophic muscularis propria, Gastroesophageal reflux, Hypergonadotropic hypogonadism, Cirrhosis, ... ORPHA:298
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Elevated circulating creatine kinase concentration, Respiratory failure req... ORPHA:90117
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Re... OMIM:619164
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Apnea, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, ... OMIM:608836
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Melioidosis
Splenic abscess, Prostatitis, Cellulitis, Osteoarthritis, Abnormality of the spleen, Parotitis, B... ORPHA:31202
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Dec... OMIM:212140
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... OMIM:603552
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Pediatric-Onset Graves Disease
Keratitis, Failure to thrive, Polydipsia, Neutropenia in presence of anti-neutropil antibodies, H... ORPHA:525731
Fusariosis
Keratitis, Maculopapular exanthema, Pneumonia, Osteomyelitis, Cellulitis, Peritonitis, Arthritis,... ORPHA:228119
Majeed Syndrome
Failure to thrive, Malabsorption, Osteomyelitis, Hepatomegaly, Inflammatory abnormality of the sk... ORPHA:77297
Proprotein Convertase 1/3 Deficiency
Malabsorption, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypo... OMIM:600955
Gaucher Disease, Type Ii
Failure to thrive, Apnea, Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Dysphagia, ... OMIM:230900
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive, Hepatic steatosis OMIM:615595
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Scleroderma
Keratitis, Alopecia, Myocarditis, Uveitis, Pericarditis, Abnormal large intestine morphology, Ost... ORPHA:801
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Hepatomegaly, Chronic oral candidiasis, Skin rash, Hypoplasia of the thymus, T... OMIM:300400
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Elevated hepatic transaminase, Hydronephrosis, Hepat... OMIM:617093
Congenital Disorder Of Glycosylation, Type Iij
Failure to thrive, Hepatomegaly, Recurrent infection of the gastrointestinal tract, Splenomegaly,... OMIM:613489
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Recurren... OMIM:616000
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia OMIM:254120
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Sinusitis, Hepatomegaly, Lymphopenia, Flexion contracture, Splenomegaly, Skin ... OMIM:617591
Aspergillosis
Keratitis, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Osteomyelitis, Chron... ORPHA:1163
Whim Syndrome
Sinusitis, Lymphopenia, Cellulitis, Otitis media, Lymphadenitis, Recurrent upper respiratory trac... ORPHA:51636
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Hypogonadism, Atypical scarring... ORPHA:791
Familial Chylomicronemia Syndrome
Failure to thrive, Hyperlipidemia, Decreased body weight, Jaundice, Hepatosplenomegaly, Pulmonary... ORPHA:444490
Caspase 8 Deficiency
Failure to thrive, Asthma, Recurrent sinopulmonary infections, Splenomegaly, Eczema, Pneumonia, L... OMIM:607271
Liver Disease, Severe Congenital
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Increased circulating fer... OMIM:619991
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur... OMIM:603471
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Cellulitis, Chronic bronchitis, T ... OMIM:618986
Omenn Syndrome
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Leukocytosis, Alopecia, Aplasia/Hypoplasia o... ORPHA:39041
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Asthma, Elevated circulating growth hormone concentration, Hepatomegal... ORPHA:97287
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Acanthocytosis, Elevated hepatic transaminase, Hypocholesterolemi... ORPHA:71
Immunodeficiency 32B
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hemophagocytosis, Elevated circulating C-reactive protein concentrati... OMIM:619644
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, High palate, Hypertrichosis, Polydipsia, Long penis, Furrowe... ORPHA:769
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Wolman Disease
Adrenal insufficiency, Hepatomegaly, Splenomegaly, Hepatic failure, Adrenal calcification, Steato... ORPHA:75233
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Respiratory insufficiency, Abnormality on pulmonary func... ORPHA:97244
Eosinophilic Gastroenteritis
Asthma, Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steat... ORPHA:2070
Neonatal Marfan Syndrome
Lipoatrophy, High, narrow palate, Flexion contracture, Small for gestational age, Hypoxemia, Decr... ORPHA:284979
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... OMIM:301045
Atypical Werner Syndrome
Hyperinsulinemia, Ovarian neoplasm, Alopecia, Neoplasm of the small intestine, Glycosuria, Abnorm... ORPHA:79474
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Cleft palate, Inguinal hernia, Micropenis, Recurrent upper respiratory tract infecti... OMIM:300209
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Megaloblastic anemia, Exocrine pancreatic insufficiency, Gastritis, Recurrent bronchopulmonary in... OMIM:219721
Microlissencephaly
Ventriculomegaly, Pneumonia ORPHA:1083
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Esophageal Atresia
Respiratory distress, Oral aversion, Cleft palate, Tracheoesophageal fistula, Pyloric stenosis, P... ORPHA:1199
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Recurrent otitis media, Neutrophilia, Cellulitis, Bronchiolitis, Widow's peak, Pne... OMIM:266265
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Int... OMIM:615486
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Wheezing, Co... OMIM:211600
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Inflammatory abnormality of the skin, Sparse eyebrow, Sparse eyelashes, Alopec... OMIM:610768
19P13.12 Microdeletion Syndrome
Generalized hirsutism, Precocious puberty, Hyperlipidemia, Cleft palate, Hypospadias, Hypothyroid... ORPHA:254346
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Enlarged... ORPHA:79259
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Protein-losing enteropathy, Recurrent pneumonia, Chronic sinusitis, Recurrent otitis... OMIM:613502
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Chronic bronchitis, Pneumonia OMIM:614069
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the p... ORPHA:2470
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... ORPHA:90790
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria, Hyperglycinemia, Protein-losing enteropathy, Recurrent respiratory infections OMIM:619063
Schaaf-Yang Syndrome
Sleep apnea, Thick eyebrow, Gastroesophageal reflux, Flexion contracture, Micropenis, Camptodacty... OMIM:615547
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Failure to thrive, Pustule, Villous atrophy, Erythroderma, Duodenitis OMIM:614328
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hypothyro... OMIM:616263
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Hepatomega... OMIM:235200
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Polydipsia, Hepatoblastoma, Cholestasis, Enlarged kidney, Esophageal varix, F... ORPHA:731
Legionnaires Disease
Pancreatitis, Hematuria, Abnormal pleura morphology, Myocarditis, Proteinuria, Bone marrow hypoce... ORPHA:549
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hepatomegaly, Hepatic failure, C... ORPHA:228308
Wilson Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Anemia, Thromboc... ORPHA:905
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Hepatomegaly, Multiple pulmonary cysts, Rheumatoid arthritis, Ecze... ORPHA:79128
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Decreased t... ORPHA:3085
Lysosomal Acid Lipase Deficiency
Hepatic failure, Steatorrhea, Esophageal varix, Weight loss, Jaundice, Abnormal urine potassium c... ORPHA:275761
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Recurrent to... ORPHA:183675
Adrenomyodystrophy
Failure to thrive, Primary adrenal insufficiency, Abnormal intestine morphology, Hepatic steatosi... ORPHA:977
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Pseudomyxoma Peritonei
Respiratory insufficiency, Inflammation of the large intestine, Abnormality of the peritoneum, In... ORPHA:26790
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Abnormal pleura morphology, Abnormali... ORPHA:2357
Meier-Gorlin Syndrome 1
High palate, Failure to thrive, Respiratory distress, Gastroesophageal reflux, Joint contracture ... OMIM:224690
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Recurrent sinusitis, Decr... OMIM:300853
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Hypoplasia of the s... OMIM:200995
Infantile Sialic Acid Storage Disease
High palate, Failure to thrive, Hydrocephalus, Nephrotic syndrome, Hepatomegaly, Vacuolated lymph... OMIM:269920
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Cholestasis, Hypermethioninemia,... OMIM:614300
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega... OMIM:612714
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... ORPHA:552
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Gout, Impaired glucose tolerance, Hypertriglyceridemia, Hype... OMIM:610947
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Hyperglycinuria, Increased circulating free fatty ac... ORPHA:941
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Flexion contracture, Splenomegaly OMIM:608540
Intellectual Developmental Disorder, Autosomal Recessive 41
High palate, Hepatomegaly, Splenomegaly, Ventriculomegaly, Recurrent pneumonia OMIM:615637
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Hepatomegaly, Hypoproteinemia, Pulmonary embolism, Iron deficiency anemia, Intesti... OMIM:226300
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Conjugated hy... OMIM:601847
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Failure to thrive OMIM:609528
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Hepat... ORPHA:470
Shigellosis
Hepatic failure, Urethritis, Abscess, Cholestasis, Myocarditis, Uveitis, Pneumonia, Microangiopat... ORPHA:810
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Eczema, Aplastic anemia, Macrocytic... ORPHA:811
Tetraamelia Syndrome 1
Anal atresia, Hydrocephalus, Urethral atresia, Congenital diaphragmatic hernia, Cleft palate, Pul... OMIM:273395
Scedosporiosis
Bronchial breath sound, Sinusitis, Abnormal jejunum morphology, Osteomyelitis, Pleural empyema, E... ORPHA:449280
Aredyld Syndrome
Type II diabetes mellitus, Lipoatrophy, Hepatomegaly, Splenomegaly, Sparse body hair, Aplasia/Hyp... ORPHA:1133
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Respiratory paralysis, Increased urinary porphobilinogen, Elevated ur... OMIM:121300
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Failure to thrive, Methioninuria, Pancreatitis, Brittle hair, Inguinal hernia, Homoc... OMIM:236200
Mucopolysaccharidosis, Type Ii
Asthma, Hypertrichosis, Airway obstruction, Hepatomegaly, Sleep apnea, Flexion contracture, Splen... OMIM:309900
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum, Congenital diaphragmatic hernia, Inguinal hernia, Umbilical hernia, Emphyse... OMIM:219100
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Nephrotic syndrome, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosple... OMIM:618935
Thymic Aplasia
Decreased proportion of naive T cells, Malabsorption, Recurrent streptococcus pneumoniae infectio... ORPHA:83471
Proteus Syndrome
Lymphangioma, Lipoma, Multiple lipomas, Splenomegaly OMIM:176920
Cyclic Neutropenia
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Cellulitis, Recurrent tonsillitis, Cervical... ORPHA:2686
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Peripheral pulmonary artery stenosis, Inguinal hernia, Unilateral renal age... ORPHA:90348
Secondary Intestinal Lymphangiectasia
Malabsorption, Intestinal bleeding, Lymphopenia, Reduced circulating transferrin concentration, S... ORPHA:90363
Griscelli Syndrome
Abnormal eyebrow morphology, Hydrocephalus, Hepatomegaly, Splenomegaly, Abnormal circulating lipi... ORPHA:381
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Hepatomegaly, Pulmonary hemorrhage, Absence of lymph node germinal cen... ORPHA:79124
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Lymphopenia, Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infec... OMIM:616100
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... ORPHA:541423
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Alström Syndrome
Respiratory distress, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, He... ORPHA:64
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Hydrocephalus, Hepatomegaly, Splenomegaly, Unilateral renal agenesis, Cirrhosi... OMIM:614576
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase conc... OMIM:618805
Focal Dermal Hypoplasia
Abnormality of the pulmonary vasculature, Duodenal atresia, Gastroesophageal reflux, Congenital d... ORPHA:2092
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Renal tubular acidosis, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulat... OMIM:255120
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Glycosuria, Median... ORPHA:699
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233710
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... OMIM:617885
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low... OMIM:602450
Fanconi Anemia, Complementation Group W
Duodenal atresia, Decreased response to growth hormone stimulation test, Renal hypoplasia, Ventri... OMIM:617784
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Anemia OMIM:602079
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Elevated circulating C-reactive protein concentration, Eczema, Type I diabetes mell... OMIM:615688
Mucopolysaccharidosis, Type Iiic
Hirsutism, Hypertrichosis, Hepatomegaly, Splenomegaly, Coarse hair, Recurrent upper respiratory t... OMIM:252930
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Immunodeficiency 54
Adrenal insufficiency, Failure to thrive, Adrenocorticotropic hormone excess, Hepatomegaly, Splen... OMIM:609981
Zygomycosis
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Acute infectious pneumonia, ... ORPHA:73263
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Recurrent infection of the gastrointestinal tract, Cellulitis, Recurr... ORPHA:486
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Hepatomegaly, Hematochezia, Pneumonia, Pancytopenia... OMIM:615846
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Hepatomegaly, Cleft palate, Otitis media, Splenomegaly, Erythroid hypoplasia, Recurr... OMIM:612541
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Hydrocephalus, Gastroesophageal reflux, Congenital diaphragmatic hernia, Morphologi... ORPHA:1834
Cronkhite-Canada Syndrome
Malabsorption, Hepatomegaly, Patchy alopecia, Alopecia, Sparse body hair, Splenomegaly, Aplasia/H... ORPHA:2930
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Recurrent sinusitis, Recurrent bronchitis, Re... OMIM:240500
Systemic Sclerosis
Alopecia, Myocarditis, Proteinuria, Pericarditis, Albuminuria, Abnormal large intestine morpholog... ORPHA:90291
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233690
Mirage Syndrome
Adrenal insufficiency, Hydrocephalus, Decreased body weight, Lymphopenia, Cryptorchidism, Gastroe... OMIM:617053
Chronic Granulomatous Disease
Malabsorption, Sinusitis, Hepatomegaly, Chronic pulmonary obstruction, Splenomegaly, Otitis media... ORPHA:379
Brucellosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Myocarditis, Epididymitis, P... ORPHA:1304
Temple Syndrome
Hydrocephalus, Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormon... ORPHA:254516
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Maternal diabetes, Pneumonia ORPHA:464370
Hurler-Scheie Syndrome
Generalized hirsutism, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Hernia, Rhinitis ORPHA:93476
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Macroglossia, Small for gestational age, Maturity-onset diabe... ORPHA:99886
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Renal cortical cysts, Glycosuria, Elevated circulat... OMIM:231680
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Proteinuria, Pericarditis, Weight loss, Stage 5 chronic kidney disease, Chilblains,... OMIM:619487
Bacterial Toxic-Shock Syndrome
Respiratory distress, Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumo... ORPHA:36234
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Hyperbilirubinemia, Biliary atresia, Intestina... OMIM:615710
Galactosemia Iii
Failure to thrive, Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Ja... OMIM:230350
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... ORPHA:369840
Magel2-Related Prader-Willi-Like Syndrome
Hypogonadism, Increased body weight, Abdominal obesity, Precocious puberty, Flexion contracture, ... ORPHA:398069
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Chronic oral candidiasis, Otitis media, Eosinophilia, Hepatosplenomegaly, Hepatitis,... ORPHA:169160
Roifman Syndrome
Hip contracture, Hepatomegaly, Splenomegaly, Eosinophilia, Eczema, Prominent eyelashes, Recurrent... OMIM:616651
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Immunodeficiency 64
Failure to thrive, Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unre... OMIM:618534
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Microvesicu... OMIM:256810
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... OMIM:620010
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Hepatomegaly, Cleft palate, Increased hepatic glycogen content, Chronic h... OMIM:614921
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Hypothyroidism, Elevated hepatic transaminase, Pneumothorax, Infection ass... ORPHA:445038
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Cleft palate, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Abetalipoproteinemia
Hepatomegaly, Steatorrhea, Fat malabsorption, Reticulocytosis, Respiratory failure, Cardiomegaly,... ORPHA:14
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increase... ORPHA:79644
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:306400
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Reduced forced expiratory volume in one second, Hepatomegaly, Gastroesophageal reflux, Splenomega... OMIM:613385
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Elevat... OMIM:308240
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, T... OMIM:614582
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Tracheoesophageal fistula, Alveolar capillary dysplasia, Omphalocele, Congenital sh... OMIM:265380
Fryns Syndrome
High palate, Ectopic anus, Anal atresia, Duodenal atresia, Gastroesophageal reflux, Congenital di... ORPHA:2059
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Increased circulating prolactin concentration, Central diabetes insipidus, Gastrointe... ORPHA:293987
Tularemia
Cutaneous abscess, Respiratory distress, Conjunctivitis, Abnormal nasopharyngeal adenoid morpholo... ORPHA:3392
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Inguinal hernia, Cleft palate, Eczema, Cong... ORPHA:96181
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent otit... OMIM:618495
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive, Hepatomegaly, High, narrow palate, Splenomegaly, Elevate... OMIM:608799
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Flexion contracture, Splenomegaly, Nephropathy, Umbilical hernia, ... ORPHA:87876
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein c... ORPHA:829
Juvenile Idiopathic Arthritis
Malabsorption, Hepatomegaly, Skin rash, Splenomegaly, Mediastinal lymphadenopathy, Abnormal pleur... ORPHA:92
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Mosaic Trisomy 9
High palate, Hypoplasia of penis, Cleft palate, Dandy-Walker malformation, Abnormal liver lobulat... ORPHA:99776
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Sparse hair, Inguinal hernia, Cryptorchidism, Abnormal circulating lipid concentrati... OMIM:616541
Fryns Syndrome
Cleft palate, Facial hirsutism, Large for gestational age, Pulmonary hypoplasia, Omphalocele, Pol... OMIM:229850
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... OMIM:619220
Grfoma
Cholelithiasis, Hepatomegaly, Adrenocortical adenoma, Intestinal carcinoid, Neoplasm of the small... ORPHA:97261
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Cholestasis, Bladder exstrophy, Esophageal varix, Umbilical hernia... OMIM:301068
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly, Chronic otitis media, Thrombocytopenia, Hemolytic anemia, Pneumonia, ... ORPHA:169090
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Abnormality of the hepatic vasculature, Hepatosplen... ORPHA:210136
Isolated Biliary Atresia
Hepatomegaly, Cholestasis, Fat malabsorption, Prolonged neonatal jaundice, Bile duct proliferatio... ORPHA:30391
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Failure to thrive, Recurrent bacterial skin infections, He... ORPHA:276
Bardet-Biedl Syndrome 1
High palate, Abdominal obesity, Hirsutism, Nephrogenic diabetes insipidus, Aganglionic megacolon,... OMIM:209900
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... ORPHA:228305
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Cough, Dyspnea, Weight loss, Lymphadenopathy ORPHA:98293
Combined Immunodeficiency Due To Dock8 Deficiency
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Ch... ORPHA:217390
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... OMIM:301082
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... OMIM:619662
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Decreased liver function, Failure to thrive, Hepatomegaly, Flexion contract... ORPHA:367
Meier-Gorlin Syndrome 4
Failure to thrive, Cryptorchidism, Breast hypoplasia, Emphysema OMIM:613804
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Recurrent hy... ORPHA:79240
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Hydrocephalus, Chronic sinusitis, Polysple... ORPHA:244
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Flexion contracture, Leukopenia, 3-Methylglutaconic aciduria, Recurrent pne... OMIM:616271
Viss Syndrome
High palate, Chronic gastritis, Alopecia, Eczema, Pulmonary artery aneurysm, Broad uvula, Contrac... OMIM:619472
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Multiple Endocrine Neoplasia Type 1
Thymoma, Increased serum serotonin, Pituitary growth hormone cell adenoma, Melena, Intestinal car... ORPHA:652
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Eleva... OMIM:214950
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Postprandial hyperglycemia, Hypertrichosis, Precocious puberty, Hyperinsulinemia, Sm... OMIM:262190
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Hydrocephalus, Meckel diverticulum OMIM:300864
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... ORPHA:417
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Splenomegaly, Intestinal malrotation, Pulmonary hypoplasia, Omphalocele ORPHA:3035
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Episodic tachypnea, Increased urinary glycerol, Apneic episod... ORPHA:348
Monosomy 13Q34
Infantile hypercalcemia, Epistaxis, Hematochezia, Horizontal eyebrow, Insulin resistance, Obesity... ORPHA:96168
Vipoma
Hepatomegaly, Benign gastrointestinal tract tumors, Adrenocortical adenoma, Increased circulating... ORPHA:97282
Infantile Liver Failure Syndrome 1
Failure to thrive, Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic trans... OMIM:615438
Prolidase Deficiency
High palate, Failure to thrive, Asthma, Hepatomegaly, Facial hirsutism, Splenomegaly, Eczema, Ele... OMIM:170100
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Intestina... ORPHA:543
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Ele... OMIM:617253
Q Fever
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Hematuria, Myocarditis, Pneumonia, W... ORPHA:781
Sim1-Related Prader-Willi-Like Syndrome
Hypogonadism, Abdominal obesity, Precocious puberty, Small pituitary gland, Hypogonadotropic hypo... ORPHA:398079
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Steatorrhea, Elevated ... OMIM:613812
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus, Decreased circulating androgen concentration, Decreased circulating cortisol level... ORPHA:95699
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Intestinal malrotation, Chronic otitis media, Chronic sinusitis, Decreased nasa... OMIM:619608
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... ORPHA:36238
Ellis Van Creveld Syndrome
Failure to thrive, Abnormal hair morphology, Abnormal hair quantity, Hypospadias, Abnormality of ... ORPHA:289
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Ketonuria, Hepatomegaly, Hepatic failure, Low plasma citrulline, Hypoglycemia, Elevated ci... OMIM:261680
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs, Hepatomegaly, Splenomegaly ORPHA:2204
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... ORPHA:540
Diaphanospondylodysostosis
Respiratory distress, Cleft palate, Inguinal hernia, Abnormal liver lobulation, Tracheomalacia, R... OMIM:608022
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, ... OMIM:613179
Mixed Connective Tissue Disease
Hepatomegaly, Gastritis, Alopecia, Myocarditis, Gastrointestinal hemorrhage, Pericarditis, Spleno... ORPHA:809
Cushing Disease
Sparse scalp hair, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hi... ORPHA:96253
Juvenile Polyposis Syndrome
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Hematochezia, Gastro... ORPHA:2929
Alg1-Cdg
Decreased liver function, Nephrotic syndrome, Abnormality of the gastrointestinal tract, Protein-... ORPHA:79327
Short Syndrome
Sparse hair, Inguinal hernia, Alopecia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Wei... ORPHA:3163
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Cellulitis, Spleno... ORPHA:32960
Fanconi Anemia, Complementation Group B
Duodenal atresia, Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism, Tracheoesophageal fi... OMIM:300514
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Gitelman Syndrome
Respiratory distress, Polydipsia, Graves disease, Gout, Type I diabetes mellitus, Proteinuria, Pr... ORPHA:358
Babesiosis
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Respiratory insufficiency, Cough, Hemoly... ORPHA:108
Typhoid
Hepatomegaly, Skin rash, Splenomegaly, Abnormal pulmonary interstitial morphology, Cough, Infecti... ORPHA:99745
Muckle-Wells Syndrome
Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Hernia of the abdominal wall, Camptoda... ORPHA:575
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Hydrolethalus Syndrome 1
Cleft palate, Hypospadias, Accessory spleen, Severe hydrocephalus, Abnormal lung lobation, Adrena... OMIM:236680
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, EBV encephalit... OMIM:615122
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Avian Influenza
Respiratory distress, Elevated circulating C-reactive protein concentration, Pneumothorax, Pneumo... ORPHA:454836
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal scarring, Failure to thrive, Microvesicular hepatic steatosis, Micronodular cirrhosis, He... ORPHA:404454
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased B cell count, Recurrent otitis media, ... OMIM:618982
Coccidioidomycosis
Respiratory distress, Hydrocephalus, Pancreatitis, Abscess, Pneumonia, Pericarditis, Lymphadenopa... ORPHA:228123
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Joint contracture of the hand... ORPHA:456312
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... ORPHA:882
Glycogen Storage Disease Iv
Failure to thrive, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Tubulointerstitial fibrosis, E... OMIM:232500
Gm1 Gangliosidosis
Failure to thrive, Hirsutism, Generalized hirsutism, Gastroesophageal reflux, Oral aversion, Ingu... ORPHA:354
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Respiratory insufficiency, Elevate... OMIM:610333
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Respiratory insufficiency, Camptodactyly of finger, Duodena... ORPHA:1759
Selective Igm Deficiency
Keratitis, Recurrent infection of the gastrointestinal tract, Stomach cancer, Otitis media, Rheum... ORPHA:331235
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroesophageal reflux, Sparse eyebrow, Cleft palate, Unilateral renal agenesis, Progressive ven... ORPHA:500150
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the liver, Hypophosphatemic rickets, Hypoinsulinemia, Neoplasm of the lung, Pelvic ma... ORPHA:2126
D-Bifunctional Protein Deficiency
High palate, Failure to thrive, Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transam... OMIM:261515
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertrichosis, Flexion contracture of finger, Hepatomegaly, Elevated circulating C-reactive prot... OMIM:256040
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Acute hepatic failure, Cirrhos... ORPHA:228426
Fanconi Anemia, Complementation Group F
Failure to thrive, Duodenal atresia, Cryptorchidism, Decreased response to growth hormone stimula... OMIM:603467
Cebalid Syndrome
High palate, Thick eyebrow, Congenital diaphragmatic hernia, Polyphagia, Highly arched eyebrow OMIM:618774
Macrosomia Adiposa Congenita