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Gene: Trp53inp1 MGI:1926609

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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Viewing: all phenotypes
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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 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, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas ORPHA:2398
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Abnormal intestine mor... OMIM:606528
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... OMIM:608600
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... ORPHA:79084
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Insulin resistance, Delayed puberty, Decreased serum insulin-like growth factor 1 ORPHA:140941
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Epidermolysis Bullosa Acquisita
Atypical scarring of skin, Inflammation of the large intestine, Diabetes mellitus, Abdominal pain ORPHA:46487
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Hepatic ste... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... ORPHA:276580
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli... ORPHA:276575
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... OMIM:612526
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hyp... ORPHA:2298
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, High, narrow palate, Cryptorchidism, Hyperinsuline... ORPHA:2849
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Feedin... OMIM:619048
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weig... ORPHA:26790
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue los... ORPHA:528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Membranoproliferative glomerulonephritis, Polycystic ovaries, Progressive loss... OMIM:608709
Obesity And Hypopigmentation
Hepatic steatosis, Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis ORPHA:79087
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Insulin resistance, Abdominal obesity, Hepatic steatosis OMIM:615980
Hyperinsulinemic Hypoglycemia, Familial, 4
Feeding difficulties, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Diarrhea 13
Elevated hepatic transaminase, Secretory diarrhea, Recurrent hypoglycemia, Vomiting, Failure to t... OMIM:620357
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... OMIM:151660
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Donohue Syndrome
Precocious puberty, Abdominal distention, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Ova... OMIM:246200
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Insulin... ORPHA:363400
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Feeding di... ORPHA:276556
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic stea... OMIM:613877
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435660
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat... OMIM:617872
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Protein-losing enteropa... ORPHA:79319
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista... ORPHA:79085
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Diarrhea, Hyperinsulinemi... ORPHA:263455
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... OMIM:615381
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Feeding difficulties, Glucose intolerance, Increased resting energy ex... ORPHA:369873
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab... ORPHA:791
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycystic ovaries, Ty... ORPHA:3085
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture OMIM:618856
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Di... OMIM:615710
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Follicu... OMIM:300635
Essential Fructosuria
Hyperglycemia, Abnormality of glycolipid metabolism ORPHA:2056
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly, Obesity, Congenital hypothyroidism ORPHA:88643
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia, Feeding difficulties ORPHA:26792
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser... ORPHA:465508
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Mater... ORPHA:79083
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Slender build, Decreased mitochondrial number ORPHA:352470
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Vomiting, Failure to... OMIM:614480
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Obesity, Feeding difficulties, Hyperg... OMIM:619737
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Pyloric stenosis, Insulin resistance,... OMIM:613327
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Increased muscle lipid content, H... OMIM:610717
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea OMIM:615767
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... ORPHA:2348
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hsd10 Mitochondrial Disease
Hypoglycemia, Abnormal mitochondrial morphology OMIM:300438
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis OMIM:261650
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated c... OMIM:619386
Werner Syndrome
Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neoplasm, Acral lentiginous ... ORPHA:902
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Diarr... ORPHA:436159
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435651
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Hepatic failure, Diarrhea, Steatorrhea, Protein-losing enteropathy... OMIM:602579
Adenocarcinoma Of The Esophagus
Nausea and vomiting, Barrett esophagus, Feeding difficulties in infancy, Esophageal carcinoma, Ob... ORPHA:99976
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Protein-losing en... OMIM:619063
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... ORPHA:2088
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cachexia, Cardiomegaly, Diarrhea, Decr... ORPHA:42
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Small intestinal dysmot... ORPHA:298
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Ficolin 3 Deficiency
Necrotizing enterocolitis, Verrucae OMIM:613860
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Increased intramyocellular lipid droplets ORPHA:457050
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Astrocytoma, Insulin-resistant diabetes mellitus, Insulin resis... ORPHA:79086
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Lymphoid... ORPHA:210548
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Osteoarthritis, Glucose intolerance,... OMIM:606069
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Decreased activity of mitocho... OMIM:615453
Bloom Syndrome
Poor appetite, Adipose tissue loss, Uveitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the b... ORPHA:125
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hep... OMIM:614602
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Delayed puberty, Hyperinsulinemic hy... OMIM:616033
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... OMIM:614700
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Ketotic hypoglycemia, G... ORPHA:2089
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint con... OMIM:175700
Dietary Iron Overload Disease
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Viral hepatitis, Micronodular cirrhosis, Esop... ORPHA:139507
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elbow flexion contracture, Hepatosplenomegaly, Sterile arthritis, Arthritis, Knee flexion c... OMIM:604416
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Short Syndrome
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... OMIM:269880
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Feeding difficult... OMIM:251880
Galactokinase Deficiency
Hepatomegaly, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsul... ORPHA:79237
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... ORPHA:276152
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Cryptorchidism, Insulin resistance, Recurrent pneumonia, Flexion contr... OMIM:214150
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... OMIM:248370
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Gastroesophageal reflux, Constipation, Primary hypo... ORPHA:300536
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... OMIM:256810
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... ORPHA:79644
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Increase... OMIM:232700
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Feeding difficulties in infancy, Diarrhea, ... ORPHA:71212
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased activity of mitochondrial complex IV, Gastroesophageal reflux, Decreased liver function... ORPHA:70472
Cholesteryl Ester Storage Disease
Acute hepatic failure, Adrenal calcification, Hepatic fibrosis, Vomiting, Hepatic steatosis, Hepa... OMIM:278000
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Cachexia, Malabsorption, Anore... ORPHA:3452
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... OMIM:212140
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Nausea, Increased sarcoplasmic glycoge... ORPHA:264580
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Lipodystrophy, Intestinal inflammation, Chilblains, Chr... OMIM:619858
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... ORPHA:280365
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology, Dysphagia ORPHA:99013
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogona... OMIM:203800
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Familial Multiple Lipomatosis
Odontogenic keratocysts of the jaw, Lipodystrophy, Functional intestinal obstruction, Increased a... ORPHA:199276
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... OMIM:264470
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... ORPHA:2137
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Acne, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189427
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abdominal distention, Increased hepati... ORPHA:369
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas... OMIM:227810
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Cardiomegaly, Episodic vomiting... OMIM:201475
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:619164
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm ORPHA:46488
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Chronic diarrhea, Esophageal varix, Ch... OMIM:614576
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Median cleft palate, Large for gestational age ORPHA:2432
Necrotizing Enterocolitis
Small for gestational age, Abdominal distention, Peritonitis, Diarrhea, Bloody diarrhea, Vomiting... ORPHA:391673
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Hypothyroidism, Hy... ORPHA:37042
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis ORPHA:436182
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Mitochondrial Complex I Deficiency, Nuclear Type 11
Decreased activity of mitochondrial complex I, Hepatomegaly, Failure to thrive, Macrovesicular he... OMIM:618234
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Feeding difficulties in infancy, Splenomegaly, Secretory diarrhea, En... OMIM:616050
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Decreased fumarate hydratase acti... OMIM:606812
Estrogen Resistance Syndrome
Acne, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary... ORPHA:785
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... ORPHA:440713
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodystrophy... OMIM:608594
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Hip contracture, Necrotizing enterocolitis, Inguinal hernia, Abdominal pain, Elbow flexion contra... OMIM:616809
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... OMIM:618108
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated hepatic transaminase, Multiple joint contractures, Small for g... ORPHA:2959
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Dysphagia ORPHA:275872
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac... OMIM:615238
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Insulin resistance, O... ORPHA:813
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrota... OMIM:243150
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, C... OMIM:618999
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi... ORPHA:810
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Abdominal distention, Rectal... ORPHA:508
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Abnormal mitochondrial shape, Hypoglycemia, Flexion ... ORPHA:17
Ataxia-Telangiectasia
Elevated hepatic transaminase, Abnormality of chromosome stability, Diabetes mellitus, Failure to... ORPHA:100
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... OMIM:209920
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... OMIM:616433
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Feeding difficulties in infancy, Hepatic necrosis, Hypoglycemic seizur... OMIM:231530
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf... ORPHA:98813
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hy... OMIM:600955
Atypical Werner Syndrome
Fasting hyperinsulinemia, Neoplasm of the breast, Hyperglycemia, Hepatic steatosis, Renal neoplas... ORPHA:79474
Bardet-Biedl Syndrome 1
Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, High, narrow palate, In... OMIM:209900
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... OMIM:269700
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Hepatic steatosis, Viral hepatitis, Diabetes mellitus, Recurrent b... ORPHA:101330
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Soft tissue neoplasm, Vaginal neoplasm... ORPHA:2126
Immunodeficiency 70
Furuncle, Celiac disease, Colitis, Recurrent sinusitis, Achalasia, Verrucae OMIM:618969
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypogonadism, Failu... ORPHA:73272
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose tolerance, Precocious pub... ORPHA:769
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Anorexia, Diarrhea, Weight loss, Vomiting, Hyperglycemia ORPHA:134
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre... ORPHA:905
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Colitis, Recurrent sinusitis, Hepatosplenomegaly OMIM:613101
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis, Colonic eosin... OMIM:617638
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphoproliferative disorder, Lymphade... ORPHA:911
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Poor appeti... ORPHA:3163
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Episodic abdominal pain, Decreased plasma total carn... ORPHA:228305
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Cryptorchidi... OMIM:210900
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Hepatic failure, Cho... ORPHA:79303
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... ORPHA:913
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepati... ORPHA:79259
Adiposis Dolorosa
Abdominal distention, Constipation, Obesity, Painful subcutaneous lipomas OMIM:103200
Adrenomyodystrophy
Primary adrenal insufficiency, Hepatic steatosis, Failure to thrive, Abnormal intestine morphology ORPHA:977
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Decreased mitochondrial complex III activity in liver tissue, Hypo... OMIM:124000
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Overweight, Cryptorchidism, Prec... OMIM:616222
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Poor appetite, ... ORPHA:96182
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... OMIM:261680
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... OMIM:619281
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Hyperinsulinemia, Incr... OMIM:615363
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... OMIM:609069
Monosomy 13Q34
Hematochezia, Insulin resistance, Hepatic steatosis, Obesity ORPHA:96168
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... OMIM:618131
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Atrophic scars, Inflammation of the large intestine, Rheumatoi... ORPHA:48104
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Abdominal pain, Splenomegaly, Lymphadenitis,... OMIM:615895
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... OMIM:614921
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Abdominal pain, Jaundice, Increased body weight, Asc... ORPHA:890
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Feeding difficulties in infancy, Increased muscle lipid content, Knee flexion contr... OMIM:608836
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Diabetes mellitus, Small for gestational age, Increased circulating free T4 concentration, Elevat... OMIM:274300
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate... OMIM:617253
Bardet-Biedl Syndrome 19
Hypogonadism, Hepatic steatosis, Obesity OMIM:615996
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Abdominal pain, Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insuffic... OMIM:609812
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Anterior uveitis, Colitis, Ileal ulcer OMIM:616744
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Decreased circulat... ORPHA:99901
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function OMIM:616829
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I... ORPHA:324964
Immunodeficiency 61
Frequent Giardia lamblia infestation, Malabsorption, Obesity, Arthritis, Colon cancer, Recurrent ... OMIM:300310
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of ... ORPHA:171
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Vomiting, Macrovesicular hepatic steat... OMIM:600649
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Diarrhea, Hepatosplenomegaly, K... ORPHA:79322
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Diabetes mellitus, Inguinal hernia, Intestinal malrotation... OMIM:600001
Chylomicron Retention Disease
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Abdominal distention, Dia... ORPHA:71
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Feeding diffic... ORPHA:541423
X-Linked Acrogigantism
Enlarged pituitary gland, Increased body mass index, Tall stature, Decreased thyroid-stimulating ... ORPHA:300373
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease OMIM:618394
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma, Increased intramyocellular lipid droplets ORPHA:681
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Electron transfer flavoprotein-ubiquinone oxidoreductase de... OMIM:231680
Blue Diaper Syndrome
Elevated hepatic transaminase, Diarrhea, Elevated circulating thyroid-stimulating hormone concent... ORPHA:94086
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycys... ORPHA:91
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Bloody diarrhea, Feeding difficulties OMIM:615119
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Del... OMIM:232220
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
48,Xxyy Syndrome
Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Feeding diffi... ORPHA:10
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Hypergonadotropic hypogonadism, Poor appetite, Diarrhea, Dysphagi... ORPHA:352447
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Chromoso... OMIM:620133
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Vomiting, Hepatic steatosis OMIM:201450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Microvesicular hepati... OMIM:619418
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Hyperglycemia, Left ventricular hypertrophy, Hypopituitarism, Hypothyroidism, Nausea ORPHA:90065
Lig4 Syndrome
Hepatomegaly, Abnormality of chromosome stability, Malabsorption, Cryptorchidism, Lymphoma, Acute... ORPHA:99812
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture... OMIM:616263
Thymoma
Myositis, Glomerulonephritis, Neoplasm of head and neck, Ulcerative colitis, Weight loss, Neoplas... ORPHA:99867
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Laurence-Moon Syndrome
Cryptorchidism, Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Disproportionate tall stature, High palate, Failure to thrive, Hepatic steatosis... OMIM:236200
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Hypoglycemia, Elevated circulating aspartate aminotransferase concentr... OMIM:617093
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Inguinal hernia, Gastritis, Small for gestational age, Splenomegal... ORPHA:84064
Familial Chylomicronemia Syndrome
Nausea and vomiting, Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatospl... ORPHA:444490
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abdominal pain, Gastrointes... ORPHA:67
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Hematologic... ORPHA:3243
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Diarrhea, Increased muscle glycogen content, Increased ... OMIM:261750
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pericarditis, Hypergonadotropic hyp... OMIM:212065
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Central dia... ORPHA:293987
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Feeding difficulties in infancy, Cryptorchidism, Increased body weight, Constipation, Gastroesoph... ORPHA:589905
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint contracture, Glycosur... ORPHA:99885
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties in infan... OMIM:613070
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Cryptorchidism, Insulin resistance, Truncal obesity, Hypothyr... OMIM:616541
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja... ORPHA:540
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Feeding difficulties, High pal... ORPHA:254531
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity OMIM:615812
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97283
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Precocious puberty, Cryptorchidism, Obesity, Cleft palate, Arthrogryposis mult... ORPHA:254346
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypoglycemia, Small for gestational age, Increased hepatocellular lipid droplets... OMIM:220111
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Feeding difficulties in infancy, Acute hepatic steatosis, Vomiting, Failure to thrive OMIM:210200
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Acne, Dorsocervical fat pad, Increased body weight, Incre... OMIM:615830
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... ORPHA:2686
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... OMIM:619377
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... ORPHA:793
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Abdominal colic, Diabetes mellitus, Liver abscess, Cholangitis, Ov... ORPHA:69663
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Decreased activity... OMIM:611126
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Oropharyngeal squamous cell carcinoma, Ecz... ORPHA:391487
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, ... ORPHA:97282
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Reye syndrome-like episodes, Diarrhea,... ORPHA:348
Congenital Macroglossia
Macroglossia, Neurofibroma, Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... OMIM:615630
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Corneal scar... OMIM:301220
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg... ORPHA:99413
Turner Syndrome
High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg... ORPHA:99228
Monosomy X
High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg... ORPHA:99226
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Obesity, Gout, Hepatic steat... ORPHA:412
Immunodeficiency 97 With Autoinflammation
Recurrent skin infections, Eczema, Abdominal pain, Splenomegaly, Diarrhea, Enterocolitis, Hepatos... OMIM:619802
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Decreased activity of mitochondrial complex IV, Decreased activ... OMIM:616672
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle glycogen content, Diabetes mellitus, Hypothyroidism, Increased mitochondrial number ORPHA:263297
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Hepatic steatosis, Inguinal hernia, Hypoglycemia, Intestinal malro... OMIM:613658
Prader-Willi Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Hypogonadotr... OMIM:176270
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis, Cellulitis OMIM:614878
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Splenomegaly, Gastrointestinal dysmotility, Jaundice, Di... ORPHA:90051
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Hepatomegaly, B-cell lymphoma, Hep... ORPHA:3261
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Poor suck OMIM:619518
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Anorexia, Vomiting, Hyperglycemia, Failure to thrive ORPHA:3008
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ketotic hypoglycemia, Splenomegaly, Diarrhea, Hepato... ORPHA:79240
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, High, narrow palate, Hepatic calcification, Feeding difficulties, Tub... ORPHA:228308
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large int... OMIM:232240
Gitelman Syndrome
Neoplasm of the pancreas, Nausea and vomiting, Maternal diabetes, Abdominal pain, Insulin resista... ORPHA:358
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent pneumonia, Obesity, Hypogonadism, Decreased testicular size OMIM:614962
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Cryptorchidism, Microvesicular hep... OMIM:610198
Barth Syndrome
Failure to thrive, Abnormal mitochondrial morphology OMIM:302060
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Feeding difficulties in infancy, Hepatosplenome... OMIM:619013
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal... OMIM:619487
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic co... OMIM:301074
Wilson Disease
Acute hepatic failure, Osteoarthritis, Vomiting, Hepatic steatosis, Hypoparathyroidism, Hepatomeg... OMIM:277900
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Pancreatitis, Diarrhea, Hepatic fibrosis, Vomiting, ... ORPHA:247585
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Protein-losing enteropathy, Vomiting, Eleva... OMIM:619991
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... OMIM:617718
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling, Failure to thrive, Vomiting OMIM:618250
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Elevated circul... ORPHA:226313
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Myelodysplasia, Abdominal pain, ... ORPHA:3260
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97280
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Acne, Biliary tract abnormality, Obesity, Type II diabetes mellitus ORPHA:3191
Perlman Syndrome
Distal ileal atresia, Hypoglycemia, Renal hamartoma, Congenital diaphragmatic hernia, Large for g... OMIM:267000
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... ORPHA:562639
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia OMIM:212138
Cole Disease
Hyperglycemia OMIM:615522
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Large for gestational age, Cryptorchidism, Protuberant abdomen, Hemangioma, ... ORPHA:457485
Graft Versus Host Disease
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Dupuytren ... ORPHA:39812
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance, Poor appetite OMIM:619322
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, B-cell lymphom... OMIM:619381
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Feeding difficulties in infancy, Cholestasis, L... ORPHA:746
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Splenomegaly, Lymphadenitis, Recurren... OMIM:618935
Steinert Myotonic Dystrophy
Brain neoplasm, Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation t... ORPHA:273
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Obesity, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Sotos Syndrome
Tall stature, Cryptorchidism, High, narrow palate, Increased body weight, Narrow palate, Feeding ... OMIM:117550
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diabetes me... ORPHA:98908
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Diarrhea, Hyperinsulinemia, Rhinitis, Vomiting ORPHA:230
Kindler Epidermolysis Bullosa
Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of finger, Esophageal... ORPHA:2908
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestation... OMIM:619573
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Mitochondrial swelling, Dysphagia ORPHA:397744
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Feeding difficulties, Bile duct proliferation, Macro... OMIM:618329
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Vomiting, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Failure ... ORPHA:436271
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti... ORPHA:29207
Dystonia-Aphonia Syndrome
Macroglossia, Abnormal mitochondrial shape, Dysphagia ORPHA:412217
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Nasogastric tube feeding, Feeding difficulties, Abnormal mitochondrial shape, Dysphagia ORPHA:485421
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... OMIM:610628
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypothyroidism, ... ORPHA:699
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Abdominal... OMIM:229600
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Microvesicular hepatic steatosis, Hepatic fibrosis, Vomiting, Abdominal pa... ORPHA:275761
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Dend Syndrome
Hyperglycemia, Vomiting ORPHA:79134
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Anorexi... ORPHA:20
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Flexion contracture, Feeding difficulties, Tube feeding, Hepatic steatosis, ... OMIM:616271
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Knee flexion contracture, Inflammation of the large intestine, Rectovaginal fistu... OMIM:619708
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Obesity, Macroglossia, Glossoptosis, High ... ORPHA:444077
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Pyloric stenosis, Jaundice, Hypothyroidism, Apl... ORPHA:93111
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Feeding difficulties, Hypogonadism... OMIM:619273
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulone... OMIM:619525
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Insulin resistance, Flexion contracture, High palate ORPHA:90153
Rotor Syndrome
Jaundice, Storage in hepatocytes, Intermittent jaundice ORPHA:3111
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur... OMIM:614300
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, High palate, Decreased liver function, Increased intramyocellular lipid droplets, G... OMIM:220110
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Esophageal atresia, Tracheoesop... ORPHA:3157
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... OMIM:615486
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Feeding difficulties, Hypothyroidism, Neonatal ... ORPHA:445038
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... OMIM:261515
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... ORPHA:1359
Esophagitis, Eosinophilic, 1
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:613412
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... OMIM:300972
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,... OMIM:613027
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Esophageal Atresia
Omphalocele, Barrett esophagus, Small for gestational age, Intestinal malrotation, Maternal diabe... ORPHA:1199
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Cryptorchidism, Obesity, Cleft palate, Azoosp... ORPHA:96263
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Decr... ORPHA:453533
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Splenomegaly, Hy... OMIM:615846
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest... ORPHA:26793
Mandibuloacral Dysplasia With Type B Lipodystrophy
Generalized lipodystrophy, Insulin resistance, Delayed puberty ORPHA:90154
Infection-Related Hemolytic Uremic Syndrome
Diabetes mellitus, Pneumonia, Nausea, Abdominal pain, Intestinal perforation, Pancreatitis, Myoca... ORPHA:544482
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Abnormal mitochondrial shape ORPHA:543470
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hypothyroidism, Chronic diarrhea, Kera... ORPHA:14
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... ORPHA:77296
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Abdomina... OMIM:617156
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Precocious puberty, Cryptorchidism, Flexion contracture, Xerostomia, Increase... ORPHA:398069
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,... ORPHA:309031
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Down Syndrome
Aganglionic megacolon, Protruding tongue, Obesity, Narrow palate, Acute megakaryocytic leukemia, ... ORPHA:870
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Hematemesis, Keratitis, Chronic diarrhea, Lymphoma, Chronic leukemia, Acute le... ORPHA:906
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, Overgrowth, Hig... OMIM:605309
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Obesity, Increased intramyoc... ORPHA:98907
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Anorexia, Splenomegaly, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uv... OMIM:181000
Atelis Syndrome 2
Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... OMIM:620185
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Peritonitis, Colonic steno... ORPHA:90038
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Plague
Hepatomegaly, Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Lympha... ORPHA:707
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Feeding difficulties in infancy, Neon... ORPHA:116
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Velopharyngeal insufficiency, Constipation, Increased body weight OMIM:182290
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypoth... ORPHA:66634
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function, Feeding difficulties OMIM:614922
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Flexion contracture, Macroglossia, Macrovesicula... OMIM:617303
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... OMIM:616026
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties, Esophagitis, Achalasia, Hepati... OMIM:615356
Friedreich Ataxia
Mitochondrial malic enzyme reduced, Diabetes mellitus, Decreased pyruvate carboxylase activity OMIM:229300
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Flexion contracture, Abdominal obesity, Hypoplasia of ... OMIM:619321
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:369840
Scorpion Envenomation
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Abdominal pain... ORPHA:466677
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy OMIM:602541
Smith-Lemli-Opitz Syndrome
Facial capillary hemangioma, Gastrointestinal dysmotility, Gastroesophageal reflux, Vomiting, Hep... OMIM:270400
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnor... ORPHA:2538
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Thalidomide Embryopathy
Insulin resistance, Chronic rhinitis ORPHA:3312
1P36 Deletion Syndrome
Camptodactyly of finger, Feeding difficulties in infancy, Cryptorchidism, Pyloric stenosis, Abnor... ORPHA:1606
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Limb joint contracture, D... ORPHA:404454
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Obesity, Inflammation of the large intestine, Neoplasm, Myeloproliferative disorder ORPHA:70591
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Hereditary Hyperekplexia
Hiatus hernia, Gastroesophageal reflux, Hernia, Esophagitis, Umbilical hernia ORPHA:3197
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Large for gestational age, Seborrheic dermatitis, Birth length gre... OMIM:300868
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... OMIM:188400
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Feeding difficulties in infancy, Vomiting, Decreased methylmalonyl-CoA mutase activ... OMIM:251110
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Small for gestational age, Decreased response to growth hormone stimulation te... ORPHA:98754
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Decreased fumarate hydratase activity, Multiple cutaneous leiomyomas, U... OMIM:150800
Tenorio Syndrome
Hypoglycemia, Recurrent pneumonia, Macroglossia, Keratoconjunctivitis sicca, Gastroesophageal ref... OMIM:616260
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Small for gestational age, Decreased response to growth hormone stimulation te... ORPHA:98793
Frontometaphyseal Dysplasia 2
Hip contracture, Elbow contracture, Feeding difficulties in infancy, Cryptorchidism, Pyloric sten... OMIM:617137
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Small for gestational age, Decreased response to growth hormone stimulation te... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Small for gestational age, Decreased response to growth hormone stimulation te... ORPHA:177901
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive in in... ORPHA:247598
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... OMIM:618213
Distal Deletion 12Q
Late onset atopic dermatitis, Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in ... ORPHA:96149
Dermatosparaxis Ehlers-Danlos Syndrome
Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarring, Hiatus hernia,... ORPHA:1901
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Chronic diarrhea, Sclerosing cholangitis, Es... OMIM:619652
Pgm3-Cdg
Lactose intolerance, Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rh... ORPHA:443811
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Obesity, Increased circulating ACTH level, Glucose... OMIM:219090
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Flexion contracture, Generalized lipodystrophy, Gluc... OMIM:619127
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Inguinal hernia, Feeding difficulties, Hypogonadism, Gastroesophageal reflux, Vomiting, Esophagit... ORPHA:79351
Wiskott-Aldrich Syndrome
Lymphoproliferative disorder, Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pneumoni... OMIM:301000
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Osteoarthritis, Absence of subcu... ORPHA:740
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Cocaine Intoxication
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... ORPHA:90068
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:605814
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Feeding difficulties in infancy, Vomiting, Decreased methylmalonyl-CoA mutase activ... OMIM:251100
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Precocious puberty, Obesity, Cleft palate, Hepatosplenomegaly, Chroni... OMIM:301066
Cushing Disease
Increased urinary cortisol level, Diabetes mellitus, Adrenal hyperplasia, Impaired glucose tolera... ORPHA:96253
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, High palate, Vomiting, Otitis media, Hepatic steatosis, Abdominal pain, Over... OMIM:619475
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Ogden Syndrome
Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, High palate, Macrovesicular he... OMIM:300855
Abcd Syndrome
Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis OMIM:600501
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Hepatic steatosis, Loss of facial adipose ... ORPHA:3455
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:203700
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Hypogonadotropic hypogo... ORPHA:79318
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Ulnar-Mammary Syndrome
Camptodactyly of finger, Cryptorchidism, Pyloric stenosis, Obesity, Ectopic anus, Breast aplasia,... ORPHA:3138
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Fetal ascites, Flexion contracture, Knee f... OMIM:619503
Intellectual Developmental Disorder, Autosomal Dominant 68
Feeding difficulties, Gastroesophageal reflux, Constipation, High palate, Joint contracture of th... OMIM:619934
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Failure to thrive, Abnormality of Krebs cycle metabolism, Dysphagia, Hepatic failur... ORPHA:255210
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Abnormal salivary gland morphology ORPHA:31
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Hodgkin lymphoma, Fee... ORPHA:2896
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Overweight, Pustule, Obesity, Uveitis, Cheilitis, Arthritis, Palmo... ORPHA:247353
Arima Syndrome
Hepatomegaly, Esophageal varix, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Localized Scleroderma
Fasciitis, Flexion contracture, Uveitis, Arthritis, Gastroesophageal reflux, Progressive loss of ... ORPHA:90289
Gaisböck Syndrome
Diabetes mellitus, Peptic ulcer, Overweight, Splenomegaly, Obesity, Gout, Increased circulating r... ORPHA:90041
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Diarrhea, Hepatosplenomegaly, Hepat... OMIM:618278
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Chronic oral candidiasis, Sinusitis, Severe periodontitis, Pneumonia, Ost... ORPHA:2968
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Diabetes mellitus, Cryptorchidism, Jaundice, Obesity, Feeding diff... OMIM:614231
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Increased body weight ORPHA:64745
Occipital Horn Syndrome
Inguinal hernia, Gastroparesis, Femoral hernia, Scarring, Hiatus hernia, High, narrow palate, Jau... ORPHA:198
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Esophagitis ORPHA:3348
Arterial Tortuosity Syndrome
Inguinal hernia, Femoral hernia, Hiatus hernia, Pyloric stenosis, Myocarditis, Gastroesophageal r... ORPHA:3342
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Feeding difficulties in infancy, Decreased methylmalonyl-CoA mutase activity, Failure to thrive OMIM:277400
Diamond-Blackfan Anemia 7
Recurrent otitis media, Esophagitis, Cleft palate OMIM:612562
9Q33.3Q34.11 Microdeletion Syndrome
Cryptorchidism, Constipation, Esophagitis, Dysphagia ORPHA:495818
Mowat-Wilson Syndrome
Dependency on intravenous nutrition, Aganglionic megacolon, Bowel incontinence, Cleft hard palate... ORPHA:2152
Hellp Syndrome
Elevated hepatic transaminase, Abdominal pain, Increased body weight, Vomiting, Nausea ORPHA:244242
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity OMIM:277410
Friedreich Ataxia 2
Diabetic ketoacidosis, Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity OMIM:601992
Homozygous Familial Hypercholesterolemia
Hepatic steatosis ORPHA:391665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Trp53inp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Trp53inp1.

No publications found that use IMPC mice or data for Trp53inp1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Trp53inp1tm296139(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Trp53inp1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Trp53inp1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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