Gene Summary

Name:
transformation related protein 53 inducible nuclear protein 1
Synonyms:
2700057G22Rik,  SIP,  SIP18,  Teap,  SIP27,  Stinp,  Tp53inp1

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.

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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 Trp53inp1 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 Trp53inp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Macroglossia, Hypothyroidism, Umbilical ... ORPHA:99886
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Feeding difficulties in infancy, Hypoglycemia, Diarrhea, Failure to thrive, Vom... OMIM:606528
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Lipodystrophy, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatom... ORPHA:79084
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Truncal obesity, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Decre... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Decre... ORPHA:71526
Morbid Obesity And Spermatogenic Failure
Azoospermia, Insulin resistance, Oligospermia, Hepatic steatosis, Type II diabetes mellitus, Obesity OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatic fibrosis, Loss of g... ORPHA:280356
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Atypical scarring of skin, Diabetes mellitus, Abdominal pain ORPHA:46487
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes mellitus OMIM:615980
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Insulin-resista... OMIM:604367
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Failure to thrive, Splenomegaly OMIM:615947
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fee... ORPHA:276575
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Splenomegaly, Reduced subcuta... OMIM:612526
Insulin-Resistance Syndrome Type B
Skin rash, Hyperinsulinemic hypoglycemia, Pneumonia, Weight loss, Hodgkin lymphoma, Type II diabe... ORPHA:2298
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset truncal ob... ORPHA:71529
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitus, Failure to thrive, ... ORPHA:181393
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Elevated hepatic transaminase, Feeding difficulties, Cholestasis, Hepatomegaly, Jaundice, Abnorma... OMIM:618528
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, Impaired glucose tolera... OMIM:606721
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Abnormality of the peritoneum,... ORPHA:26790
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue ... OMIM:246200
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Congenital Generalized Lipodystrophy
Cirrhosis, Macroglossia, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Adipose tissue ... ORPHA:528
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Tall stature, Hepatomegaly, Inguinal hernia, Nephroblastoma, Fe... ORPHA:2849
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Villous atrophy, Protein-losing enteropathy, Hepatic fi... OMIM:602579
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Impaired gluconeoge... OMIM:212140
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Failure to thrive, ... OMIM:617872
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse pancreatic is... ORPHA:276556
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Zollinger-Ellison synd... ORPHA:97279
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Lipodystrophy, Familial Partial, Type 2
Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose tissue loss, Increased... OMIM:151660
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Reduced intraabdominal adipos... ORPHA:363400
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology, Failure to thrive OMIM:618378
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Incr... ORPHA:435660
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Failure to thrive, Feeding difficulties ORPHA:26792
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Ele... ORPHA:263455
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hyperinsulinemia, Insulin resistance, Feeding difficulties, Hepati... OMIM:613327
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Abdominal pain, Hypothyroidism, Hepatocellular carcinoma, Chronic hepatic failure, Wei... ORPHA:465508
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Diabetes mellitus, Lipoatrophy OMIM:613877
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Acne, Colitis, Hepatomegaly, Hepatitis, Spleno... OMIM:300635
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Combined Oxidative Phosphorylation Deficiency 52
Decreased activity of mitochondrial complex III, Hepatic steatosis, Decreased activity of mitocho... OMIM:619386
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Atypical scarring of skin, Type II diabetes mellitu... ORPHA:791
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Weight loss, Crohn's dis... OMIM:266600
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Multiple joint contractures, Decreased mitochondrial number ORPHA:352470
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology, Hypoglycemia OMIM:300438
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Polycystic ovaries, Ty... ORPHA:3085
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Failure ... OMIM:220111
Carcinoma Of Esophagus
Dysphagia, Esophageal neoplasm, Gastroesophageal reflux, Weight loss, Abnormal intestine morpholo... ORPHA:70482
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Polycystic ovaries... ORPHA:2348
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Failure to thrive, Mucoid diarrhea OMIM:615767
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Congenital hypothyroidism, Cardiomegaly, Obesity ORPHA:88643
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Insulin-resista... ORPHA:79083
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Combined Oxidative Phosphorylation Deficiency 12
Decreased activity of mitochondrial complex III, Macrovesicular hepatic steatosis, Cholestasis, H... OMIM:614924
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, Hepatocellular carc... ORPHA:2088
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Obesity, Arthritis, Frequent Giardia lamblia infesta... OMIM:300310
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Flexion con... OMIM:615381
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number, Protein-losing en... OMIM:619063
Mitchell-Riley Syndrome
Absent gallbladder, Annular pancreas, Biliary atresia, Intestinal malrotation, Jejunal atresia, C... OMIM:615710
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Hepatic steatosis, Diabetes mellitus, Elevated hepatic transaminase OMIM:610717
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated hepatic transaminase, Small intestinal dysmotility, Abdominal pain, Hypergona... ORPHA:298
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Insulin-resista... ORPHA:79086
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia,... ORPHA:42
Trichohepatoenteric Syndrome 2
Cirrhosis, Villous atrophy, Colitis, Hepatomegaly, Hepatitis, Small for gestational age, Diarrhea... OMIM:614602
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Nonketotic hypoglycemia, ... OMIM:201475
Ficolin 3 Deficiency
Necrotizing enterocolitis, Verrucae OMIM:613860
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Po... ORPHA:435651
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Galactokinase Deficiency
Hyperinsulinemia, Feeding difficulties, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegal... ORPHA:79237
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Cirrhosis, Microvesicular hepa... OMIM:256810
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Pneumonia, Villous atrophy, Recurrent otitis media, Chronic diarrhea... OMIM:614700
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Short Syndrome
Glucose intolerance, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Inguinal he... OMIM:269880
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Villous atrophy, Constipation, Aganglionic megacolon,... ORPHA:95427
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cellulitis, Colitis, Cystic acne, Arthritis, Knee flexion contracture, Hepatosplenomegaly, Elbow ... OMIM:604416
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Bloom Syndrome
Skin rash, Pneumonia, Neoplasm of the breast, Neoplasm, Malignant genitourinary tract tumor, Smal... ORPHA:125
Mandibuloacral Dysplasia
Increased intraabdominal fat, Abnormal tongue morphology, Glucose intolerance, Hyperinsulinemia, ... ORPHA:2457
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Abnormality of t... ORPHA:2089
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Gastroesophageal reflux, Nausea and vomiting, Feeding difficulties in infan... ORPHA:99976
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Adrenocortical ... ORPHA:276152
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Feeding difficulties, Failure to thrive OMIM:615595
Barth Syndrome
Abnormal mitochondrial morphology, Failure to thrive OMIM:302060
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint contracture of the... OMIM:175700
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperinsulinemic hypoglycemia, Neonatal hypogl... ORPHA:71212
Lysosomal Acid Lipase Deficiency
Diarrhea, Hypersplenism, Vomiting, Cirrhosis, Increased hepatic echogenicity, Acute hepatic failu... OMIM:278000
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Insulin resistance, Abdominal pain, Hypothyroidism, Uv... ORPHA:3452
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic s... ORPHA:264580
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Constipation, Lipodystrophy, Gastroesophageal r... ORPHA:300536
Werner Syndrome
Ovarian neoplasm, Neoplasm, Breast carcinoma, Type II diabetes mellitus, Melanoma, Insulin resist... ORPHA:902
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Failure to thrive OMIM:617093
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, ... ORPHA:2198
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Increased intraabdominal fat, Decreased serum leptin, Insulin resistanc... ORPHA:280365
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Autoimmune Hepatitis
Acute hepatitis, Inflammation of the large intestine, Cirrhosis, Elevated hepatic transaminase, G... ORPHA:2137
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Reduced subcutaneous adipose tissue, Hype... OMIM:609069
Familial Multiple Lipomatosis
Medulloblastoma, Functional intestinal obstruction, Odontogenic keratocysts of the jaw, Insulin r... ORPHA:199276
Alstrom Syndrome
Nephritis, Elevated hepatic transaminase, Hyperinsulinemia, Chronic active hepatitis, Multinodula... OMIM:203800
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Polycystic ovaries,... ORPHA:90970
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocel... ORPHA:370
Linear Iga Dermatosis
Inflammation of the large intestine, Renal neoplasm, Bladder neoplasm ORPHA:46488
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Median cleft palate, Large for gestational age ORPHA:2432
Necrotizing Enterocolitis
Peritonitis, Small for gestational age, Ascites, Diarrhea, Vomiting, Hyperglycemia, Abdominal dis... ORPHA:391673
Frontotemporal Dementia With Motor Neuron Disease
Dysphagia, Abnormal mitochondrial morphology ORPHA:275872
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Inflammation of the large intestine, Cirrhosis, Elevated hepatic transaminase,... OMIM:614576
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, H... ORPHA:2959
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Abdominal pain, Hematochezia, Weight loss, Diarrhea OMIM:191390
Spastic Paraplegia Type 7
Dysphagia, Abnormal mitochondrial morphology ORPHA:99013
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Immunodeficiency 76
Chronic diarrhea, Colitis, B-cell lymphoma, Splenomegaly, Recurrent pneumonia OMIM:619164
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Failure to ... OMIM:608809
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia... ORPHA:37042
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria OMIM:618857
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Dysphagia, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Hepatic cysts, Hypothyroidism, Membranous nep... OMIM:618999
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase OMIM:618400
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Temple Syndrome
Cryptorchidism, Maturity-onset diabetes of the young, Overweight, Feeding difficulties, Decreased... OMIM:616222
Estrogen Resistance Syndrome
Acne, Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Breast hyp... ORPHA:785
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Autoinflammation With Infantile Enterocolitis
Skin rash, Villous atrophy, Episodic vomiting, Failure to thrive, Splenomegaly, Feeding difficult... OMIM:616050
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Bronchiectasis, Perianal abscess, Diarrhea, Gastr... OMIM:618108
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Elevated hepatic transaminase, Hyperinsulinemia, Hepatic steat... OMIM:608594
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatic necrosis, Fulminant h... OMIM:231530
Shigellosis
Peritonitis, Pneumonia, Failure to thrive in infancy, Anorexia, Myocarditis, Vomiting, Bloody dia... ORPHA:810
Isolated Sedoheptulokinase Deficiency
Arthrogryposis multiplex congenita, Postprandial hyperglycemia, Flexion contracture, Steatorrhea,... ORPHA:440713
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Biliary tract abnormality, Colitis, Protracted diarrhea, Cholan... OMIM:209920
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat... OMIM:201450
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Lipodystrophy OMIM:615238
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis OMIM:617006
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Macroglossia, Insulin resistance, Enlarged ovaries, Postprandial hyperglyce... ORPHA:769
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Elevated hepatic transaminase, Hyperinsulinemia, Hepatic steat... OMIM:269700
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Acne OMIM:615363
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational age, Failure to thrive, ... ORPHA:73272
Zollinger-Ellison Syndrome
Elevated circulating growth hormone concentration, Adrenocortical adenoma, Increased circulating ... ORPHA:913
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Silver-Russell Syndrome
Cryptorchidism, Feeding difficulties, Insulin resistance, Premature adrenarche, Constipation, Gas... ORPHA:813
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hepatosplenomegaly, Recurrent sinusitis, Splenomegaly OMIM:613101
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Weight loss, Inguinal herni... ORPHA:3163
Beta-Ketothiolase Deficiency
Weight loss, Hypoglycemia, Hepatomegaly, Anorexia, Diarrhea, Vomiting, Hyperglycemia ORPHA:134
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Decreased plasma total carnitine, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepati... ORPHA:228305
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Decreased liver function, Failure ... OMIM:614300
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Crohn's disease, Perianal abscess, Enterocolitis OMIM:613148
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Soft tissue neoplasm, Constipation, Abnormality of the peritoneum, Genital neopl... ORPHA:2126
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Porphyria Cutanea Tarda
Cutaneous abscess, Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, ... ORPHA:101330
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Lymphoproliferative disorder, Chronic oral candidiasis, Lymphadenitis, Recurrent bacte... ORPHA:911
Adrenomyodystrophy
Hepatic steatosis, Abnormal intestine morphology, Failure to thrive, Primary adrenal insufficiency ORPHA:977
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Decreased activity of mitochondrial complex III, Feeding difficult... ORPHA:17
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus, Small for gestational age OMIM:606176
Reticular Dysgenesis
Skin rash, Chronic otitis media, Aplasia/Hypoplasia of the thymus, Weight loss, Diarrhea, Failure... ORPHA:33355
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Primary Sclerosing Cholangitis
Thyroiditis, Weight loss, Jaundice, Cirrhosis, Acute hepatic failure, Uveitis, Abnormal biliary t... ORPHA:171
Atypical Werner Syndrome
Ovarian neoplasm, Neoplasm of the breast, Delayed puberty, Type II diabetes mellitus, Generalized... ORPHA:79474
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Visceromegaly, Bilateral cleft lip and palate, Intestinal malrotation, Large for gestational age,... OMIM:601165
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Thyroiditis, Delayed puberty, Diarrhea, Enlarged kidney, Polycystic ovaries, Protuberant abdomen,... ORPHA:79259
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly, Diarrhe... OMIM:255120
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Obesity, Delayed puberty, Small for gestational age, Cleft palat... OMIM:300148
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Chronic diarrhea,... OMIM:618805
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:616829
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased T3/T4 ratio, Constipation, Omphalocele, Impaired sensitivity to thyroid h... OMIM:614450
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Chronic diarrhea, Recurrent sinusitis, Colitis, Recurrent pn... OMIM:619281
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis, Helicob... OMIM:618131
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Ileal ulcer, Anterior uveitis, Colitis OMIM:616744
Monosomy 13Q34
Obesity, Hepatic steatosis, Hematochezia, Insulin resistance ORPHA:96168
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Nausea, Hypoglycemia, Glycosuria, Hepatomegaly, Jaundice, Electron transfer fl... OMIM:231680
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Nonketotic hypoglyc... ORPHA:99901
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hernia of the abdominal wall, Eczema, Aplasia/Hypoplasia of the testes, Obesity ORPHA:3055
Combined Oxidative Phosphorylation Deficiency 26
Cirrhosis, Malabsorption, Abnormal activity of mitochondrial respiratory chain, Failure to thrive OMIM:616539
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Dysphagia, Nausea, Diarrhea, Poor appetite, Decreased mitochondri... ORPHA:352447
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myeloid leukemia, Myelodysplasia, Atrophic scars, R... ORPHA:48104
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hypothyroidism, Flexion contracture, Pancreatic fibrosis, Steatorrhea, Hepatic... OMIM:616263
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Failure to... OMIM:615438
Temple Syndrome
Cryptorchidism, Nasogastric tube feeding, Feeding difficulties, Feeding difficulties in infancy, ... ORPHA:254516
Immunodeficiency 60
Bronchiectasis, Chronic diarrhea, Ulcerative colitis, Colitis, Splenomegaly, Crohn's disease OMIM:618394
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Cryptorchidism, Esophagitis, Feeding difficulties in infancy, Insulin resis... ORPHA:96182
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Decreased activity of mitochondrial complex IV, Obesity OMIM:619058
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Acne, Palmoplantar pustulosis, Weight loss, Psori... ORPHA:324964
Immunodeficiency 70
Furuncle, Recurrent sinusitis, Achalasia, Colitis, Verrucae, Celiac disease OMIM:618969
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Elevated hepatic transaminase, Feeding difficulties, Hepatic steatosis, Cholestasis,... ORPHA:541423
Adiposis Dolorosa
Constipation, Abdominal distention, Painful subcutaneous lipomas, Obesity OMIM:103200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatomegaly, He... OMIM:261680
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Overgrowth, Isosexual precociou... ORPHA:759
Hyperostosis Frontalis Interna
Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Abdominal pain, Hepatomegaly, Jaundice, Increased body weight, Asc... ORPHA:890
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Aplasia of the left hemidiaphragm, Biliary atresia, Intestinal malrotation, Umbili... OMIM:600001
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Elevated hepatic transaminase, Decreased plasma total carnitine, Enlarged kidney, ... OMIM:608836
Somatostatinoma
Lack of bowel sounds, Elevated circulating growth hormone concentration, Adrenocortical adenoma, ... ORPHA:97283
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Esophageal stenosis, Allergic ... ORPHA:411696
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Multiple Endocrine Neoplasia, Type I
Esophagitis, Subcutaneous lipoma, Elevated circulating growth hormone concentration, Prolactinoma... OMIM:131100
48,Xxyy Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Azoospermia, Hypergonadotropic hypogonadism, C... ORPHA:10
Vipoma
Elevated circulating growth hormone concentration, Adrenocortical adenoma, Increased circulating ... ORPHA:97282
Familial Chylomicronemia Syndrome
Episodic abdominal pain, Hepatic steatosis, Decreased body weight, Recurrent pancreatitis, Acute ... ORPHA:444490
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hypoglycemia, Hepatit... OMIM:614921
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Adrenal hypoplasia, Decreased response to growth hormone stimuation test, ... OMIM:609734
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Abdominal pain, Hepatic steatosis, Villous atrophy, Cho... ORPHA:567983
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Hepato... OMIM:600649
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Feeding difficulties, Ganglioneuroma, Premature adrenarche, Abnorm... ORPHA:293987
Aromatase Deficiency
Cryptorchidism, Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Tall statu... ORPHA:91
Syndromic Diarrhea
Cirrhosis, Hypothyroidism, Villous atrophy, Colitis, Hepatic fibrosis, Hepatomegaly, Inguinal her... ORPHA:84064
Zygomycosis
Peritonitis, Pericarditis, Ileitis, Melena, Diarrhea, Sinusitis, Vomiting, Myocarditis, Endocardi... ORPHA:73263
Immunodeficiency 37
Encephalitis, Colitis OMIM:616098
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Villous atrophy, Diarrhea, Hypogonadotropic hypogonadism, M... OMIM:600955
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Contractures of the joints of the lower limbs, Weight loss, G... ORPHA:99885
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Abdominal pain, Palmoplantar pustulosis,... ORPHA:793
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Nausea, Hypopituitarism, Left ventricular hypertrophy, Vomiting, Hyperglycemia ORPHA:90065
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Constrictive pericarditis, Elevated hepatic transaminase, Abdominal pain, Weight l... ORPHA:67
Sweet Syndrome
Inflammation of the large intestine, Pustule, Chronic lymphatic leukemia, Panniculitis, Neoplasm,... ORPHA:3243
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Disproportionate tall stature, Tall stature, Inguinal hernia, Failure to thriv... OMIM:236200
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged kidney, Insulin resistance, Insulin-r... ORPHA:90301
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Maturity-onset diabetes of the young, Feeding difficulties, Recurrent otitis medi... ORPHA:96184
Adrenomyodystrophy
Hepatic steatosis, Constipation, Primary adrenal insufficiency, Chronic constipation, Pituitary c... OMIM:300270
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase ORPHA:369840
Placental Insufficiency
Small for gestational age, Insulin resistance ORPHA:439167
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Failure to thrive, Vomiting, Feeding difficulties in infancy, Acute hepatic steatosis OMIM:210200
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion, Failure to thrive ORPHA:91130
Glucagonoma
Lack of bowel sounds, Skin rash, Elevated circulating growth hormone concentration, Adrenocortica... ORPHA:97280
Cyclic Neutropenia
Peritonitis, Cellulitis, Abdominal pain, Periodontitis, Perianal abscess, Sinusitis, Recurrent sk... ORPHA:2686
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Elevated hepatic transaminase, Erythroderma, Maculopapular exanthema, Colitis, Hepatom... ORPHA:540
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Increased body weight, Dorsocervi... OMIM:615830
Pyruvate Carboxylase Deficiency
Hypoglycemia, Anorexia, Hepatomegaly, Failure to thrive, Vomiting, Hyperglycemia ORPHA:3008
Ppoma
Lack of bowel sounds, Elevated circulating growth hormone concentration, Adrenocortical adenoma, ... ORPHA:97278
Laurence-Moon Syndrome
Cryptorchidism, Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hy... ORPHA:348
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Feeding difficulties, Recurrent otitis media, High palate, ... ORPHA:254531
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Impaired glucose tolerance, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hep... OMIM:615630
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Thyroiditis, Burkitt lymphoma, B-cell lymphoma, Hodgkin lymphoma, Hypersple... ORPHA:3261
Turner Syndrome Due To Structural X Chromosome Anomalies
Thyroiditis, High urinary gonadotropin level, Gastrointestinal angiodysplasia, Failure to thrive ... ORPHA:99413
Turner Syndrome
Thyroiditis, High urinary gonadotropin level, Gastrointestinal angiodysplasia, Failure to thrive ... ORPHA:881
Mosaic Monosomy X
Thyroiditis, High urinary gonadotropin level, Gastrointestinal angiodysplasia, Failure to thrive ... ORPHA:99228
Monosomy X
Thyroiditis, High urinary gonadotropin level, Gastrointestinal angiodysplasia, Failure to thrive ... ORPHA:99226
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis, Abnormal subcut... OMIM:212065
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormality of the endocrine system, Bronchiectasis, Esophageal carcinoma, Thyroiditis, Villous a... ORPHA:391487
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Insulin resistance, Hypothyroidism, Truncal obesity, Inguinal hernia, Diabetes me... OMIM:616541
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Feeding difficulties, Hypoketotic hypoglycemia, Hepatic steatos... ORPHA:228308
Grfoma
Lack of bowel sounds, Elevated circulating growth hormone concentration, Adrenocortical adenoma, ... ORPHA:97261
Citrullinemia Type Ii
Decreased body mass index, Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carci... ORPHA:247585
Dysbetalipoproteinemia
Hepatic steatosis, Hypothyroidism, Acute pancreatitis, Hepatomegaly, Gout, Diabetes mellitus, Obe... ORPHA:412
Crimean-Congo Hemorrhagic Fever
Skin rash, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abdominal pain, Hepatic st... ORPHA:99827
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Chronic diarrhea, Failure to thrive in infancy, Colitis, Corneal scarring, Recurr... OMIM:301220
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Gitelman Syndrome
Maternal diabetes, Graves disease, Glucose intolerance, Nausea and vomiting, Insulin resistance, ... ORPHA:358
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit... ORPHA:209902
19P13.12 Microdeletion Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Hepatic steatosis, Hypothyroidism, Cleft pala... ORPHA:254346
Sepsis In Premature Infants
Decreased body weight, Hepatomegaly, Jaundice, Functional abnormality of the gastrointestinal tra... ORPHA:90051
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Cirrhosis, Elevated hepatic transaminase, Feeding difficulties, Hepatic steatosis,... OMIM:613658
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Prader-Willi Syndrome
Cryptorchidism, Hyperinsulinemia, Decreased response to growth hormone stimuation test, Failure t... OMIM:176270
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Inguinal hernia, Type II diabetes mellitus, Acne, Obesity ORPHA:3191
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
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
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Abdominal pain, Abnormality of the peri... ORPHA:83469
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Abnormality of the mitochondrion, Camptodactyly, Intrahepatic biliary dysgenesis,... OMIM:214110
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Hypopituitarism, Feeding diffic... OMIM:619013
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis, Abdominal pain ORPHA:139491
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abdominal pai... ORPHA:131
Idiopathic Hypereosinophilic Syndrome
Chronic hepatitis, Vomiting, Eczema, Myelodysplasia, Chronic diarrhea, Cholangitis, Malabsorption... ORPHA:3260
Reactive Arthritis
Inflammation of the large intestine, Pustule, Pericarditis, Abdominal pain, Enthesitis, Weight lo... ORPHA:29207
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Camptodactyly of finger, Abnormal dental enamel morphology, ... ORPHA:2908
Mitochondrial Trifunctional Protein Deficiency
Poor suck, Hypoketotic hypoglycemia, Chronic hepatic failure, Failure to thrive in infancy, Chole... ORPHA:746
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Ulcerative colitis, Acute pancreatitis, Perianal abscess, Spl... OMIM:618935
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion, Gastrostomy tube feeding in infancy, Delayed menarche ORPHA:330050
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Chola... OMIM:124000
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Goiter, Protuberant abdomen, Decreased circulating T4 level, Constipation, Elevated... ORPHA:226313
Fructose Intolerance, Hereditary
Cirrhosis, Malnutrition, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abdominal pa... OMIM:229600
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Pancreatitis OMIM:603471
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, High, narrow palate, Abnormality of the hypothalamus... ORPHA:2183
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Abnormal... OMIM:203700
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Insulin resistance, Hypoglycemia, Diarrhea, Rhinitis, Vomiting ORPHA:230
Graft Versus Host Disease
Pneumonia, Maculopapular exanthema, Jaundice, Chronic hepatitis, Diarrhea, Vomiting, Myositis, Na... ORPHA:39812
Pearson Syndrome
Pancreatic fibrosis, Small for gestational age, Chronic diarrhea, Hepatic failure, Hypoparathyroi... ORPHA:699
Steinert Myotonic Dystrophy
Male hypogonadism, Nasogastric tube feeding in infancy, Diarrhea, Ovarian carcinoma, Insulin resi... ORPHA:273
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Myeloid leukemia, Hepatic failure ORPHA:331
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Hepatomegaly, Decreased liver function, Failure to thrive, Vomiting, Diffuse hepatic ... ORPHA:436271
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Poor appetite, Insulin resistance OMIM:619322
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I, De... OMIM:500013
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Abnormality of mitochondrial metabolism, Type I diabetes mellitus ORPHA:1192
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent pneumonia, Decreased testicular size, Hypogonadism, Obesity OMIM:614962
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Hip osteoarthritis, Enthesitis, Psoriasiform dermatitis, Ant... OMIM:106300
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Obesity OMIM:234350
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Decrea... OMIM:615486
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomegaly OMIM:212138
Abcd Syndrome
Large for gestational age, Aganglionic megacolon OMIM:600501
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Abnormality of mitochondrial metabolism, Arthrogryposis multiplex congenita, Feeding... OMIM:615330
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Colitis, Abdominal pain, Hematochezia OMIM:203300
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Hemangioma, Neonatal hypoglycemia, Protuberant abdomen, Lactose intolerance, Inte... ORPHA:457485
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dysphagia, Abnormal mitochondrial shape, Nasogastric tube feeding, Feeding difficulties ORPHA:485421
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Cryptorchidism, Overweight, Feeding difficulties, Gastroesophageal reflux, Gastrostomy tube feedi... ORPHA:486815
Dystonia-Aphonia Syndrome
Dysphagia, Macroglossia, Abnormal mitochondrial shape ORPHA:412217
Bardet-Biedl Syndrome 2
Hypogonadism, Diabetes mellitus, Obesity OMIM:615981
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Pyloric stenosis, Jaundice, Art... ORPHA:93111
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Diabetes mellitus, Obesity OMIM:610628
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Flexion contracture, Breast aplasia, Insulin resistance ORPHA:90153
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Cellulitis, Interstitial pneumonitis OMIM:614878
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Macroglossia, Hypothyroidism, Constipation, Gastroesophageal reflux, Gastrostomy tube feeding in ... ORPHA:444077
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Nonketotic hypoglycemia, Weight loss, Acute pancreatitis, Hepatome... ORPHA:20
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Chronic diarrhea, St... ORPHA:14
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting, Failure to thrive OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting, Failure to thrive OMIM:613412
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Weight loss, Jaundice, Decreased liver function, Diarrhea, Hype... ORPHA:275761
Leptin Receptor Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Delayed puberty, Diabetes mell... OMIM:614963
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased hepatocellular lipid droplets, Glycosuria, Hepatomegaly, Decreased liver function, Fail... OMIM:220110
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Obesity OMIM:248100
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Decreased testicular size, Hypogonad... ORPHA:2234
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Neonatal hypoglycemia, Feeding difficulties, Hepatic steatosis, Hy... ORPHA:445038
48,Xxxy Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Azoospermia, Constipation, Gastroesophageal re... ORPHA:96263
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Failure to thrive OMIM:617718
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Graves disease, Postprandial hyperglycemia, Consti... ORPHA:79102
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Generalized lipodystrophy, Insulin resistance ORPHA:90154
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Feeding difficulties in infancy, Maternal diabetes ORPHA:45452
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatic failure, Microvesicular hepatic steatosis, Hypoglycemia OMIM:611126
Hsd10 Disease, Infantile Type
Dysphagia, Hypoglycemia, Cardiomegaly, Abnormality of mitochondrial metabolism, Gastrointestinal ... ORPHA:391428
Cimdag Syndrome
Microvesicular hepatic steatosis, Feeding difficulties, Lipodystrophy, Cholelithiasis, Hepatomega... OMIM:619273
Esophageal Atresia
Gastrointestinal dysmotility, Esophagitis, Morphological abnormality of the gastrointestinal trac... ORPHA:1199
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Intestinal perforation, Intussusception, Gastrointestinal infarctions, Abdominal c... ORPHA:544482
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Overweight, Elevated hepatic transaminase, Feeding difficul... ORPHA:26793
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular size, Aganglionic ... OMIM:209900
Sialuria
Elevated hepatic transaminase, Abnormality of the mitochondrion, Cholelithiasis, Hepatomegaly, Hi... ORPHA:3166
Friedreich Ataxia
Mitochondrial malic enzyme reduced, Diabetes mellitus, Decreased pyruvate carboxylase activity OMIM:229300
Dend Syndrome
Vomiting, Hyperglycemia ORPHA:79134
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling, Arthritis ORPHA:397744
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function, Feeding difficulties OMIM:614922
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Failure to thrive ORPHA:543470
Combined Oxidative Phosphorylation Deficiency 27
Feeding difficulties, Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Cryptorchidism, Nasogastric tube feeding, Feeding difficulties, Premature puba... ORPHA:398069
Down Syndrome
Macroglossia, Acute megakaryocytic leukemia, Narrow palate, Hypothyroidism, Aganglionic megacolon... ORPHA:870
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes mellitus, Large for gestational age OMIM:616026
Autosomal Dominant Progressive External Ophthalmoplegia
Goiter, Elevated hepatic transaminase, Glucose intolerance, Dysphagia, Abnormality of the mitocho... ORPHA:254892
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Abdominal pain, Steatorrhea, Weight loss, Colitis, Keratoconju... ORPHA:309031
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Feeding difficulties in infancy, Hepatic steatosis, Primary adrena... OMIM:261515
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism, Feeding difficulties, Failure to thrive, Vomiting, Abnormality of mitochondrial m... ORPHA:88639
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Vomiting, Feeding d... OMIM:251110
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Iridocyclitis, Bronchiectasis, Abn... OMIM:181000
Cowden syndrome 3
Abnormality of mitochondrial metabolism, Uterine leiomyoma, Neoplasm of the thyroid gland, Renal ... OMIM:615106
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Maternal diabetes, Abnormality of the hypothalamus-pituitary axis, Constipation, ... ORPHA:3157
Plague
Inflammation of the large intestine, Skin rash, Chapped lip, Glossitis, Endocarditis, Hematemesis... ORPHA:707
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Decreased fumarate hydrata... OMIM:150800
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Vomiting, Feeding d... OMIM:251100
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Intestinal perforation, Intussusception, Abdominal pain, Colonic sten... ORPHA:90038
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Esophagitis, Elevated hepatic transaminase, Feeding difficulties, Hepatic steatosis, Achalasia, H... OMIM:615356
Gastrointestinal Stromal Tumor
Skin rash, Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestina... ORPHA:44890
Perlman Syndrome
Cryptorchidism, Nephroblastomatosis, Visceromegaly, Renal hamartoma, Ascites, Volvulus, Congenita... OMIM:267000
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Constipation, Increased body weight, Velopharyngeal insufficiency OMIM:182290
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Macroglossia, Enlarged kidney, Macrovesicular hepatic steatosis, Flexion con... OMIM:617303
Scorpion Envenomation
Abdominal pain, Acute pancreatitis, Glycosuria, Diarrhea, Elevated circulating aspartate aminotra... ORPHA:466677
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Chronic leukemia, Hematochezia, Hematemesis, Chronic diarrhe... ORPHA:906
Beckwith-Wiedemann Syndrome
Cryptorchidism, Facial hemangioma, Pseudohypoparathyroidism, Omphalocele, Neoplasm, Large intesti... ORPHA:116
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
X-Linked Lymphoproliferative Disease
Inflammation of the large intestine, Elevated hepatic transaminase, Burkitt lymphoma, Colitis, B-... ORPHA:2442
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis, Hypogonadism, Obesity OMIM:616629
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
1P36 Deletion Syndrome
Camptodactyly of finger, Cryptorchidism, Feeding difficulties in infancy, Neuroblastoma, Hepatic ... ORPHA:1606
Gracile Syndrome
Elevated hepatic iron concentration, Hepatic steatosis, Cirrhosis, Cholestasis ORPHA:53693
Thalidomide Embryopathy
Chronic rhinitis, Insulin resistance ORPHA:3312
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Osteomyelitis, Cellulitis, Eczematoid dermatitis, Lymphadenitis, Recurrent b... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent pneumonia, Osteomyelitis, Cellulitis, Eczematoid dermatitis, Lymphadenitis, Recurrent b... OMIM:233690
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Micronodular cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Decrease... ORPHA:404454
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Neoplasm, Myeloproliferative disorder, Osteomyelitis, Obesity ORPHA:70591
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Decreased testicular size, Microvesicular hepatic steatosis OMIM:610198
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Feeding difficulties, Perineal fistula, Gastroesophageal reflux, Inte... ORPHA:2538
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Nasogastric tube feeding, Hypogonadotropic hypogonadism, Premature pubarche, Prem... ORPHA:398079
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplas... ORPHA:226307
Hereditary Hyperekplexia
Hiatus hernia, Esophagitis, Gastroesophageal reflux, Umbilical hernia, Hernia ORPHA:3197
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Neonatal hypoglycemia, Hypothyro... ORPHA:66634
Kleefstra Syndrome Due To A Point Mutation
Gastroesophageal reflux, Umbilical hernia, Inguinal hernia, Anal atresia, Overgrowth, Failure to ... ORPHA:261652
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Chronic pancreatitis, Hepatic steatosis, Hepatomegaly, Cholecystit... ORPHA:98908
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Flexion contracture, Intestinal malrotation, Abdominal obesity, Decreased test... OMIM:619321
Mitochondrial Dna-Associated Leigh Syndrome
Dysphagia, Abnormality of Krebs cycle metabolism, Hepatomegaly, Episodic vomiting, Failure to thr... ORPHA:255210
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central... ORPHA:98754
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Abnormal salivary gland morphology ORPHA:31
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH... OMIM:300888
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central... ORPHA:98793
Pgm3-Cdg
Esophagitis, Recurrent pneumonia, Cutaneous abscess, Allergic rhinitis, Atopic dermatitis, Bronch... ORPHA:443811
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central... ORPHA:177904
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Hepatic steatosis, Failure to thrive ... ORPHA:247598
Sheehan Syndrome
Gonadotropin deficiency, Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91355
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central... ORPHA:177901
Hutchinson-Gilford Progeria Syndrome
Ankyloglossia, Decreased serum leptin, Insulin resistance, High palate, Pubertal developmental fa... ORPHA:740
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Proportionate tall stature, Late onset atopic dermatitis, B... ORPHA:96149
Tenorio Syndrome
Macroglossia, Gastroesophageal reflux, Pneumonia, Hypoglycemia, Stomatitis, Hypoinsulinemia, Kera... OMIM:616260
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Esophagitis, Scarring, Gastroesophageal reflux, Inguinal hernia, Hernia, Abnormali... ORPHA:1901
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Glucose intolerance, Macrovesicular hepatic steatosis, Flexion con... OMIM:619127
Cocaine Intoxication
Intestinal perforation, Abdominal pain, Gastrointestinal infarctions, Nausea, Colitis, Glomerulon... ORPHA:90068
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Esophagitis, Feeding difficulties, Gastroesophageal reflux, Umbilical hernia, Inguinal hernia, Fa... ORPHA:79351
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Hepatocellular carcinoma, Biliary cirrhosis, Hepatic fi... ORPHA:186
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Obesity, Increased circulating ACTH level, Abdom... OMIM:219090
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... ORPHA:3464
Prader-Willi-Like Syndrome
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:398073
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Pneumonia, Diarrhea, Sinusitis, Eczema, Otitis media OMIM:600903
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal calcium-phosphate regulating hormone level, Abnormal testis morphology, Neoplasm... ORPHA:457059
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Congenital generalized lipodystrophy, Type II diabetes mellitus, Increased subcut... ORPHA:3455
Leukocyte Adhesion Deficiency
Peritonitis, Severe periodontitis, Osteomyelitis, Hyperinsulinemic hypoglycemia, Bronchiectasis, ... ORPHA:2968
Iga Pemphigus
Pustule, Cutaneous abscess, Ulcerative colitis, Neutrophilic infiltration of the skin ORPHA:555905
Frontometaphyseal Dysplasia 2
Cryptorchidism, Camptodactyly, Gastroesophageal reflux, Ulcerative colitis, Delayed puberty, Hip ... OMIM:617137
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Umbilical hernia, Overgrowth, Small for gestational age, Feeding difficulties in inf... ORPHA:254534
Pmm2-Cdg
Elevated circulating growth hormone concentration, Elevated hepatic transaminase, Hyperinsulinemi... ORPHA:79318
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Hematemesis, Recurrent otitis media, Chronic diarrhea, Recur... OMIM:301000
Perrault Syndrome 4
Increased circulating gonadotropin level, Disproportionate tall stature, Hypoplasia of the ovary,... OMIM:615300
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Prolonged neonatal jaundice... ORPHA:99832
Localized Scleroderma
Esophagitis, Flexion contracture, Gastroesophageal reflux, Uveitis, Hashimoto thyroiditis, Progre... ORPHA:90289
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cryptorchidism, Umbilical hernia, Inguinal hernia, Small for gestational age, Failure to thrive, ... OMIM:614052
Ulnar-Mammary Syndrome
Camptodactyly of finger, Cryptorchidism, Breast aplasia, Hypoplastic nipples, Ectopic anus, Delay... ORPHA:3138
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis ORPHA:98907
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Anoperineal fistula, Perianal abscess, Pancolitis, Failure to thrive, Eosinophil... OMIM:618213
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250