Gene Summary

Name:
SID1 transmembrane family, member 2
Synonyms:
CGI-40

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating total protein level Sidt2em1(IMPC)Wtsi HOM   Early adult 1.47×10-06
increased circulating amylase level Sidt2em1(IMPC)Wtsi HOM Early adult 9.74×10-12
decreased circulating glycerol level Sidt2em1(IMPC)Wtsi HOM Early adult 5.68×10-06
thrombocytosis Sidt2em1(IMPC)Wtsi HOM Early adult 8.05×10-06
decreased circulating HDL cholesterol level Sidt2em1(IMPC)Wtsi HOM Early adult 5.22×10-05
decreased circulating cholesterol level Sidt2em1(IMPC)Wtsi HOM Early adult 9.06×10-06
increased circulating aspartate transaminase level Sidt2em1(IMPC)Wtsi HOM Early adult 8.70×10-12
decreased circulating calcium level Sidt2em1(IMPC)Wtsi HOM Early adult 1.51×10-07
decreased circulating LDL cholesterol level Sidt2em1(IMPC)Wtsi HOM Early adult 2.19×10-05
decreased circulating iron level Sidt2em1(IMPC)Wtsi HOM Early adult 3.46×10-08

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sidt2 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sidt2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Failure to thrive in infancy, ... OMIM:232700
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Azoospermia, Insulin resistance, Oligospermia, Hepatic steatosis, Hypertrig... OMIM:615703
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis, Hypertriglyceridemia, ... ORPHA:280356
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Prolonged neonatal jaundice, Congenit... ORPHA:446
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Failure to thrive in infancy, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypoglycemia, Hyperlipidemia,... ORPHA:369
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabete... ORPHA:436182
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Elevated circulating... OMIM:232400
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, ... OMIM:271500
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Abnormal circulating lipid concentration, Abdominal obesit... OMIM:615980
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated hepatic transaminase, Abnormality of iron ... ORPHA:79230
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, Cholest... OMIM:617156
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Failur... OMIM:602579
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Gout... OMIM:610947
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertri... OMIM:612526
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia, Neutropenia OMIM:600351
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hypersplenism, Cirrhosis, Increased hepatic echogenicity, Acute hepatic fai... OMIM:278000
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Pancytopenia, Elevated circulating C-reactive protein concentr... OMIM:604416
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Elevated alpha-fetoprotein, Hepatomegaly ORPHA:33402
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancre... ORPHA:79084
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Hyperuricemia, Insulin-resista... OMIM:604367
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Iron deficiency anemia, Microcytic anemia, Incre... ORPHA:398063
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Acute pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hype... OMIM:608600
Combined Oxidative Phosphorylation Deficiency 52
Hyperglycinemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, ... OMIM:619386
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Failure to thrive, ... OMIM:617872
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Elevated hepatic transaminase, Portal hypertension, Hyperb... OMIM:616278
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Nonketotic hypoglycemia, ... OMIM:201475
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitu... ORPHA:79085
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Folliculitis, Acne, Inflammation of the large intes... OMIM:300635
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant h... OMIM:231530
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Abnormal thrombocyte morphology, Splenomegaly ORPHA:172
Mpi-Cdg
Hepatic failure, Congenital hepatic fibrosis, Hypoglycemia ORPHA:79319
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Hepatic steatosis, Failur... ORPHA:26792
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Hypercholesterolemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:370
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczema OMIM:176090
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
Niemann-Pick Disease, Type B
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Decreased HDL cholesterol concentration, Increa... OMIM:607616
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Insulin-resistant diabetes mellitus, Polycystic ovarie... ORPHA:435651
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Hypercholesterolemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:264580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitu... ORPHA:435660
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Lymphopenia ORPHA:90363
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi... OMIM:613027
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Elevated hepatic transaminase, Hepatic steatosis, Imp... OMIM:212140
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Hepatosplenom... OMIM:209950
Alpha-Heavy Chain Disease
Hypocalcemia, Anemia, Splenomegaly ORPHA:100025
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Failure to thrive OMIM:615595
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Glucose intolerance, Insulin resistance, Impaired glucose tolerance, Hypert... OMIM:606721
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Coach Syndrome 2
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hepatic fibrosis, C... OMIM:619111
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Bilia... ORPHA:567983
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Hepatic lobular inflammation, El... ORPHA:101330
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Hepatic fibrosis, Cirrhosis, Cholestasis OMIM:609313
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Elevated circulating aspartate aminotransferase concentra... ORPHA:2088
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Skin rash, Hepatomegaly, Jaundice, Hypertriglycerid... OMIM:603552
Citrullinemia Type Ii
Hypercholesterolemia, Decreased body mass index, Hypoproteinemia, Elevated hepatic transaminase, ... ORPHA:247585
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Adamantinoma
Hypercalcemia ORPHA:55881
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycys... ORPHA:528
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Childhood-onset truncal obesit... ORPHA:71529
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Obesity OMIM:234350
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, He... OMIM:246200
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly, Elevate... OMIM:255120
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Small f... ORPHA:99886
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Carcinoid Syndrome
Intestinal carcinoid, Elevated hepatic transaminase, Atypical pulmonary carcinoid tumor, Small in... ORPHA:100093
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Recurrent pancreatitis, Acute pancreatitis, Jaundice, I... ORPHA:444490
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Retinohepatoendocrinologic Syndrome
Elevated circulating creatine kinase concentration, Hypothyroidism, Maturity-onset diabetes of th... OMIM:268040
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Failure to thrive OMIM:617093
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Impaired glucose tolerance, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hep... OMIM:615630
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... ORPHA:363400
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hypoglycemia, Delayed... OMIM:614921
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Hepatomegal... OMIM:615381
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenal hypoplasia, Neonatal hypoglycemia, Adrenocorticotropin deficient a... ORPHA:199296
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Temple Syndrome
Cryptorchidism, Maturity-onset diabetes of the young, Hypercholesterolemia, Overweight, Recurrent... OMIM:616222
Laurence-Moon Syndrome
Cryptorchidism, Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hypoalbuminemia OMIM:226300
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Episo... ORPHA:276556
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Hepatosplenomegaly, Acute hepatic failure ORPHA:466794
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Hypopituitarism, Hypertriglycer... OMIM:619013
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Anemia, Splenomega... OMIM:613313
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Trichohepatoenteric Syndrome 2
Cirrhosis, Colitis, Hepatomegaly, Decreased serum iron, Hepatitis, Small for gestational age, Fai... OMIM:614602
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance ORPHA:79087
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Increa... OMIM:600649
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Decreased plasma total carnitine, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepati... ORPHA:228305
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepatic steatosis... OMIM:613070
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Splenomegaly ORPHA:444463
Alstrom Syndrome
Recurrent pneumonia, Nephritis, Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, ... OMIM:203800
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal circul... ORPHA:79086
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Dec... ORPHA:541423
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Hyperuricemia, Insulin-resis... ORPHA:79083
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Elevated circulating glutaric acid concentration, Hypoglycemia, Glycosuria, He... OMIM:231680
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypothyroidism, Hepatic steatosis, Acute pancreatitis, Hepatom... ORPHA:412
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Abnormal circulating creatine kinase concentration, Elevated hep... ORPHA:369840
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia,... ORPHA:42
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis, Hypogonadism, Obesity OMIM:616629
Isolated Biliary Atresia
Xanthelasma, Atretic gallbladder, Conjugated hyperbilirubinemia, Jaundice, Decreased liver functi... ORPHA:30391
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Increased circulating lactate dehydrog... ORPHA:26791
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Biliary cirrhosis, Elevated circulating alanine aminotransfe... ORPHA:53035
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Failure to thrive in infancy, Elevated circulating aspartate aminotransferas... OMIM:611182
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Recurrent sinusitis, Colitis, Hypertriglyceridemia,... OMIM:613101
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Hypoalbuminemia ORPHA:90362
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Cirrhosis, Microvesicular hepa... OMIM:256810
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypogly... OMIM:261680
Thrombocythemia 2
Thrombocytosis OMIM:601977
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Abnormality of the peritoneum, Neoplasm of the liver, Hypoglycemia, Hyp... ORPHA:2126
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Dominant Beta-Thalassemia
Cirrhosis, Abnormality of iron homeostasis, Hypothyroidism, Hepatocellular carcinoma, Hypopituita... ORPHA:231226
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Pa... ORPHA:2348
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Hypothyroidism, Stea... OMIM:269200
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Glycerol Kinase Deficiency
Cryptorchidism, Adrenocortical hypoplasia, Hypoglycemia, Adrenal insufficiency, Hypertriglyceride... OMIM:307030
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Primary Sclerosing Cholangitis
Thyroiditis, Weight loss, Jaundice, Hypoalbuminemia, Cirrhosis, Acute hepatic failure, Uveitis, E... ORPHA:171
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic steatosis, Pancreatic fibrosis, Steatorrhea, Hepatic fibrosis, Hepatomega... OMIM:616263
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hypertriglyceridemia, Eczema, Cholelithiasis OMIM:177000
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Hepatocellular carcinoma, Biliary cirrhosis, Conjugated... ORPHA:186
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Nephronophthisis 16
Hepatic fibrosis, Patent ductus arteriosus, Cholestasis OMIM:615382
Senior-Loken Syndrome
Congenital hepatic fibrosis, Premature ovarian insufficiency ORPHA:3156
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Leigh Syndrome
Hepatocellular necrosis, Failure to thrive OMIM:256000
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephrogenic diabetes insipidus, Elevated hepatic transaminase, Giant cell hepatitis, Conjugated h... OMIM:613404
Autoimmune Hepatitis
Acute hepatitis, Increased total bilirubin, Cirrhosis, Inflammation of the large intestine, Eleva... ORPHA:2137
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Congenital hypothyroidism, Pancrea... OMIM:610199
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat... OMIM:201450
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Patent ductus arteriosus, Hepatic fibrosis, Hepatomegaly, Decr... OMIM:606003
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:66628
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Ele... ORPHA:263455
Lcat Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly ORPHA:650
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hypocholesterolemia OMIM:266510
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Hemobilia, Hyperbilirubine... ORPHA:88673
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Hepatomeg... OMIM:613327
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:179494
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Insulin-Resistance Syndrome Type B
Skin rash, Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, ... ORPHA:2298
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... OMIM:207750
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, A... OMIM:259720
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Nonketotic hypoglyc... ORPHA:99901
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, A... OMIM:151660
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Splenomegaly, Pancreatitis,... ORPHA:90970
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Thrombocythemia 3
Thrombocytosis OMIM:614521
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Beta-Thalassemia Major
Cirrhosis, Abnormality of iron homeostasis, Hypothyroidism, Hepatocellular carcinoma, Hypopituita... ORPHA:231214
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Beta-Thalassemia
Abnormality of iron homeostasis, Cholelithiasis, Hepatomegaly, Hepatitis, Splenomegaly, Hypogonad... ORPHA:848
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Adult-Onset Still Disease
Skin rash, Elevated hepatic transaminase, Pericarditis, Abnormal circulating lipid concentration,... ORPHA:829
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Hypoproteinemia, Increased propor... ORPHA:167
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Bronchiectasis, Recurrent sinusiti... OMIM:615207
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Hypoproteinemia, Leukocytosis ORPHA:340
Late-Onset Isolated Acth Deficiency
Graves disease, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insuffici... ORPHA:199299
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Failure to... OMIM:615438
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hyperornithinemia, Hepatomegaly, Decreased liver function, Failure to thrive, Hy... OMIM:238970
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Hepatomegaly, Cholestasis OMIM:266920
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Fail... ORPHA:2089
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrogenic diabetes insipidus, Elevated hepatic transaminase, Giant cell hepatitis, Conjugated h... OMIM:208085
X-Linked Agammaglobulinemia
Hypocalcemia, Skin rash, Recurrent pneumonia, Chronic otitis media, Weight loss, Conjunctivitis, ... ORPHA:47
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hypohidrosis, Hepatitis ORPHA:363523
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Xanthelasma, Microvesicular hepatic steatosis, Weight loss, Jaundice, Decre... ORPHA:275761
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Anemia OMIM:244460
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypothyroidism, Hepatic steatosis,... OMIM:212065
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Failure ... OMIM:220111
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Failure to thrive, Acute hepatic steatosis, Hypoglycemia OMIM:210200
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomega... OMIM:212138
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Weight loss, Hyperhidrosis, Primary hyperparathyroidism, A... ORPHA:1332
Chylomicron Retention Disease
Acanthocytosis, Steatorrhea, Hypocholesterolemia ORPHA:71
Timothy Syndrome
Hypocalcemia OMIM:601005
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Increased circulating farnesol concentration, Elevated c... OMIM:618156
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Patent ductus arterio... OMIM:208540
Adrenomyodystrophy
Hepatic steatosis, Pituitary corticotropic cell adenoma, Primary adrenal insufficiency OMIM:300270
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Interstitial Lung And Liver Disease
Cirrhosis, Intraalveolar phospholipid accumulation, Elevated hepatic transaminase, Hypothyroidism... OMIM:615486
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Conjunctivitis, Hepatitis, Failure to thrive, Si... ORPHA:33110
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly ORPHA:1655
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Anemia OMIM:175500
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Hypothyroidism, Acute hepatic failure, Failure to thrive in infancy, Chol... ORPHA:228426
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension OMIM:616589
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Elevated circulating C-reactive protein concentration, Anemia, Leuko... OMIM:615934
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Erythroderma, Glomerulonephritis, Hepatitis, Type I diabetes mellitus, Failure to... OMIM:304790
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic fibrosis, Asplenia, Hepatomegaly, Cholestasis OMIM:615415
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hypothy... ORPHA:465508
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Chronic pancre... ORPHA:98908
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:259700
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Johanson-Blizzard Syndrome
Hypoproteinemia, Anemia ORPHA:2315
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Elevated circulating cre... ORPHA:94093
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Jaundice, Cholelithiasis, Giant cell hepatitis OMIM:214980
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Ddost-Cdg
Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Primary hypothyroidism ORPHA:300536
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive, Cholestasis OMIM:614924
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Skin rash, Elevated hepatic transaminase, Erythrode... ORPHA:540
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Steatorrhea, Cholestasis, Hepatitis, Cholestatic liver disease, Porta... ORPHA:440713
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Abnormal erythrocyte morphology, Hypocholesterolemia, Decreased LDL cholest... ORPHA:96180
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Biliary tract abnormality, Hepatic fibr... OMIM:209900
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hyp... ORPHA:31824
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Cholelithiasis, Hepatomegaly, Jaundice, Hepatitis, ... OMIM:194380
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Hepatic fibrosis, Hepatomegaly, Failure to thrive, Elevated c... OMIM:207900
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hypotriglyceridemia, Hypothyroidism, Hepatic steatosis,... ORPHA:14
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Conjugated hyperbilirubinemia... ORPHA:480520
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Hy... ORPHA:348
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, Erythroderma, Pneu... ORPHA:169160
Wilson Disease
Cirrhosis, Hepatocellular carcinoma, Glycosuria, Hepatomegaly, Atypical or prolonged hepatitis, H... OMIM:277900
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Elevated hepatic transaminase, Panniculitis, Hepatomegaly, Hypertriglyceridemia, Sinus... OMIM:617591
Adrenomyodystrophy
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency ORPHA:977
Bardet-Biedl Syndrome
Cryptorchidism, Hepatic fibrosis, Hypogonadism, Hypoplasia of the ovary, Obesity ORPHA:110
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating parathyroid hormone level, Male hypogonadism, Iridocyclitis, Chronic oral c... OMIM:240300
Nephrotic Syndrome, Type 14
Cryptorchidism, Hypothyroidism, Hypoglycemia, Adrenal insufficiency, Hypertriglyceridemia, Hypoal... OMIM:617575
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Hypoketotic hypoglycemia, Hepatic steatosis, Renal tubular epit... ORPHA:228308
Mitchell-Riley Syndrome
Hyperglycemia, Annular pancreas, Biliary atresia, Hyperbilirubinemia, Cholestasis, Pancreatic hyp... OMIM:615710
Trichohepatoenteric Syndrome 1
Cirrhosis, Abnormality of iron homeostasis, Hypermethioninemia, Cholestasis, Hepatic fibrosis, Ja... OMIM:222470
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Steatorrhea, Macrocytic anemia OMIM:212750
Aromatase Deficiency
Cryptorchidism, Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Type II di... ORPHA:91
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Griscelli Syndrome
Abnormal circulating lipid concentration, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly ORPHA:381
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Elevated he... ORPHA:39812
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Decreased HDL cholesterol concentration, Insulin resistance, Hepatic stea... ORPHA:280365
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Hepatic steat... OMIM:608594
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Interlobular bile duct destruction, Interface hep... ORPHA:562639
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemi... ORPHA:824
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Xanthelasma, Thyroiditis, Hyperuricemia, Delayed puberty, Hyperlipidemia, P... ORPHA:79259
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran... ORPHA:98907
Pierson Syndrome
Hypoproteinemia OMIM:609049
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Coach Syndrome 1
Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly, Intrahepatic bile duct ... OMIM:216360
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Sclerosing cholangitis, Stomatitis, Hepatomegaly, Chronic hepatitis, Hepatitis, Failur... OMIM:308230
Peroxisome Biogenesis Disorder 1B
Hepatic fibrosis, Cirrhosis, Hyperoxaluria, Hepatomegaly OMIM:601539
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Increased LDL cholesterol concentration, Splenomegaly, Elevated circulating... OMIM:616828
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Elevated hepatic transaminase, Interstitial pneumonitis, Thyroiditis, Erythro... ORPHA:139402
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Neutropenia, Anemia, Increased serum iron OMIM:604250
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Hepatic steat... OMIM:269700
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia OMIM:212050
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Increased circulating chylomicron concentration, Jaundice... OMIM:238600
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypothyroidism, Hashimoto thyroiditis, Failure to thrive in infancy, Hepatomegaly, Hepatitis, Typ... OMIM:613385
Mccune-Albright Syndrome
Hypophosphatemia, Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, E... ORPHA:562
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Congenital Enterovirus Infection
Skin rash, Cholestasis, Hepatitis, Hypoalbuminemia, Hepatic failure, Myocarditis, Encephalitis, H... ORPHA:292
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Type II diabetes mellitus, Decreased HDL cholester... OMIM:618620
Acute Liver Failure
Skin rash, Hepatocellular necrosis, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Adrena... ORPHA:90062
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly, Portal hyperten... OMIM:263200
Meckel Syndrome, Type 6
Hepatic fibrosis, Bile duct proliferation, Cystic liver disease OMIM:612284
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Azoospermia, Glucose intolerance, Elevat... OMIM:235200
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Anemia, Aceruloplasminemia OMIM:604290
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic failure, Transient hyperlipidemia ORPHA:156
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Biliary tract abnormality, Colitis, Cholangitis, Encephalitis, Failure to thrive... OMIM:209920
Avian Influenza
Myelitis, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentratio... ORPHA:454836
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia... ORPHA:567548
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Beta-Ketothiolase Deficiency
Leukocytosis, Hyperammonemia, Thrombocytosis, Hyperuricemia ORPHA:134
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis, Elevated circulating alkal... ORPHA:52430
Legionnaires Disease
Endocarditis, Pericarditis, Hyponatremia, Jaundice, Hepatitis, Encephalitis, Pancreatitis, Spleno... ORPHA:549
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Conjugated hyperbilirubinemia, Pancreatic fibrosis, H... OMIM:208500
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Autosomal Recessive Polycystic Kidney Disease
Recurrent pneumonia, Elevated gamma-glutamyltransferase level, Pancreatic cysts, Periportal fibro... ORPHA:731
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Splenomegaly OMIM:618440
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Failure to thrive, Hepatic fail... OMIM:617049
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Tangier Disease
Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia, Anemia, Hepatosplenomegaly ORPHA:31150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Elevated hepatic transaminase, Glucose intolerance, Impaired glucose tolerance, Failure to thrive... OMIM:610131
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Hyperuricemia, Jaundice, Arthri... ORPHA:93111
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Inflammation of the large intestine, Elevated hepat... ORPHA:2442
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Increased circulating metamyelocyte ... ORPHA:36234
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Macrovesicular hepatic ... ORPHA:298
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism, Hyperinsulinemia ORPHA:2849
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Myasthenia Gravis
Primary adrenal insufficiency, Rheumatoid arthritis, Hashimoto thyroiditis, Glycosuria, Hyperthyr... ORPHA:589
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hypothyroidism, Hepatomegaly, Delayed... ORPHA:456312
Mandibuloacral Dysplasia
Hypercholesterolemia, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Insulin-resistan... ORPHA:2457
Syndromic Diarrhea
Cirrhosis, Abnormality of iron homeostasis, Hypothyroidism, Patent ductus arteriosus, Colitis, Hy... ORPHA:84064
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis, Splenomegaly OMIM:618398
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased transferrin saturation, Reticulocytopenia... ORPHA:300298
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:618858
Autoimmune Polyendocrinopathy Type 3
Graves disease, Iridocyclitis, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Rhe... ORPHA:227982
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Elevated p... ORPHA:470
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatic failure, Microvesicular hepatic steatosis, Hypoglycemia OMIM:611126
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Keratoconjunctivitis sicca, Splenomegaly, Abnormality of the liver... ORPHA:91138
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Anemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Fructose Intolerance, Hereditary
Hypophosphatemia, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia... OMIM:229600
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Rheumatoid arthriti... ORPHA:227990
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Crimean-Congo Hemorrhagic Fever
Skin rash, Elevated hepatic transaminase, Hepatic steatosis, Uveitis, Jaundice ORPHA:99827
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Hypoketotic hypoglycemia, Chronic hepatic failure, Failure to thrive in infancy, Ch... ORPHA:746
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis, Insulin-resista... ORPHA:2959
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:606176
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Lichen Planopilaris
Hepatitis ORPHA:525
Melioidosis
Prostatitis, Cutaneous abscess, Splenic abscess, Acute infectious pneumonia, Pneumonia, Septic ar... ORPHA:31202
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Hepatic fibrosis,... ORPHA:333
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Hypermethioninemia, Failure to thrive, Pancreatitis, Hyperhomocystinemia OMIM:236200
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic hepatitis due to cryptosporidium infection, Skin rash, Decreased circulating beta-2-micro... ORPHA:572
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Ataxia With Vitamin 3 Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:277460
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Failure to thrive OMIM:618278
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany, Hyperaldosteronism ORPHA:73224
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia, Anemia, Splenomegaly ORPHA:29073
Monosomy 13Q34
Obesity, Hepatic steatosis, Infantile hypercalcemia, Insulin resistance ORPHA:96168
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Leukocytosis, Hyperuricemia, Anemia, Leukopenia, Hyperammonemia ORPHA:20
Microsporidiosis
Peritonitis, Thyroiditis, Pneumonia, Biliary tract abnormality, Weight loss, Abnormality of the p... ORPHA:2552
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly OMIM:200995
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly ORPHA:91131
Cholera
Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Increased serum iron, Splenomegaly OMIM:602390
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis OMIM:263210