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Gene: Tcf7l2 MGI:1202879

Gene Summary

Name:

transcription factor 7 like 2, T cell specific, HMG box

Synonyms:

mTcf-4E, TCF4E, Tcf4, mTcf-4B, TCF4B, Tcf-4

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Tcf7l2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased lean body mass	Tcf7l2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.22×10^-05
increased bone mineral density	Tcf7l2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.61×10^-06
increased mean platelet volume	Tcf7l2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	4.66×10^-06
decreased total body fat amount	Tcf7l2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.62×10^-05
increased bone mineral content	Tcf7l2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	4.50×10^-05
increased red blood cell distribution width	Tcf7l2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.58×10^-07

Download data as: TSV XLS

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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.

X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Ear epidermis immunophenotyping

Images

3 Images

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Legacy Phenotype Associated Images

Tcf7l2^{tm2a(EUCOMM)Wtsi}
head, WT, Female, WTSI

Tcf7l2^{tm2a(EUCOMM)Wtsi}
forearm, WT, Female, WTSI

Tcf7l2^{tm2a(EUCOMM)Wtsi}
body, WT, Female, WTSI

Tcf7l2^{tm2a(EUCOMM)Wtsi}
head, WT, Female, WTSI

View all 265 images

Tcf7l2^{tm2a(EUCOMM)Wtsi}
WT, Female, WTSI

View all 9 images

Tcf7l2^{tm1a(EUCOMM)Wtsi}
embryonic lethality, fetal edema, HOM, Male, WTSI

Tcf7l2^{tm1a(EUCOMM)Wtsi}
HOM, Female, WTSI

Tcf7l2^{tm1a(EUCOMM)Wtsi}
embryonic lethality, fetal edema, HOM, Male, WTSI

Tcf7l2^{tm2a(EUCOMM)Wtsi}
eye, WT, Female, WTSI

Tcf7l2^{tm1a(EUCOMM)Wtsi}
Fused cornea and lens, HET, Female, WTSI

Tcf7l2^{tm1a(EUCOMM)Wtsi}
narrow eye opening, HET, Male, WTSI

Tcf7l2^{tm2a(EUCOMM)Wtsi}
back skin, WT, Female, WTSI

Human diseases caused by Tcf7l2 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.

Human diseases associated with Tcf7l2 (1 diseases)
Human diseases predicted to be associated with Tcf7l2 (923 diseases)

The table below shows human diseases associated to Tcf7l2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Type 2 Diabetes Mellitus		Insulin resistance, Type II diabetes mellitus	OMIM:125853

The table below shows human diseases predicted to be associated to Tcf7l2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re...	ORPHA:324575
Obesity Due To Melanocortin 4 Receptor Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child...	ORPHA:71529
Short Stature Due To Ghsr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Delayed p...	ORPHA:314811
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
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
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia	ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Excessive insulin response to glucagon test, Maternal diabetes, Large for gestational age, Hyperi...	ORPHA:276580
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati...	OMIM:601820
Epilepsy With Bilateral Occipital Calcifications	Celiac disease	OMIM:226810
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Excessive insulin response to glucagon test, Large for gestational age, Hyperinsulinemia, Hypogly...	ORPHA:276575
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia, Obesity	OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ...	ORPHA:276556
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Obesity And Hypopigmentation	Hyperinsulinemia, Polyphagia, Obesity	OMIM:620195
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Death in infancy, Villous atrophy, Abnormal intestine morphology, Protracted diarrhea	OMIM:251850
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Lactose Intolerance, Adult Type	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223100
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	ORPHA:314802
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Buschke-Ollendorff Syndrome	Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
3-Methylglutaconic Aciduria Type 1	Progressive cerebellar ataxia, Failure to thrive, Hypoglycemia	ORPHA:67046
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia	OMIM:222100
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Melorheostosis With Osteopoikilosis	Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia	ORPHA:369873
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia	OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
Essential Fructosuria	Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or activity, Hypergl...	ORPHA:2056
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia	OMIM:617885
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co...	OMIM:262400
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Hyperinsulinemic Hypoglycemia, Familial, 1	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo...	OMIM:256450
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i...	OMIM:266600
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Dentin Dysplasia	Increased bone mineral density, Abnormal dental enamel morphology	ORPHA:1653
Diarrhea 9	Villous atrophy, Diarrhea	OMIM:618168
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren...	OMIM:262700
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ...	ORPHA:276608
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Failure to thrive, Clavicular sclerosis	OMIM:615198
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Decreased response to growth hormone stimulation test	OMIM:615925
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Villous atrophy, Crypt hyperplasia	OMIM:613217
Jejunal Atresia	Jejunal atresia	OMIM:243600
Inflammatory Bowel Disease 11	Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain	OMIM:191390
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy, Diarrhea	OMIM:618662
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant...	ORPHA:91351
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt...	ORPHA:300373
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Unsteady gait, Hypoglycemia	OMIM:610090
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H...	ORPHA:293964
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H...	OMIM:231095
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Chronic Diarrhea Due To Glucoamylase Deficiency	Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac...	ORPHA:103907
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Melorheostosis	Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit...	ORPHA:2485
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Obesity, Decreased serum leptin	OMIM:614962
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis	OMIM:261650
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Glycogen Storage Disease Vi	Failure to thrive in infancy, Hypoglycemia	OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder...	ORPHA:35878
Huntington Disease	Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Weight loss, Bradykinesia, Add...	ORPHA:399
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Protein-losing enteropathy, Vomiting, Diarrhea	OMIM:615863
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Isolated Growth Hormone Deficiency, Type Iv	Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth...	OMIM:618157
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea	OMIM:613291
Renal Glucosuria	Polydipsia, Polyphagia, Glycosuria	OMIM:233100
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia	ORPHA:366
Slc35A1-Cdg	Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Mehmo Syndrome	Small for gestational age, Hypoglycemia, Decreased response to growth hormone stimulation test, A...	OMIM:300148
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia, Obesity, Large for gestational age	OMIM:617119
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s...	OMIM:619445
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo...	OMIM:611490
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop...	ORPHA:2198
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Bardet-Biedl Syndrome 9	Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia	OMIM:615986
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia	ORPHA:411515
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, High palate, Small pituitary gland, Delayed puberty	OMIM:612702
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Anterior pituitary hypoplasia, Hypoglycemia, Hypogonadotropic hypogonadism, Decreased cir...	ORPHA:453533
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Diarrhea 13	Recurrent hypoglycemia, Failure to thrive	OMIM:620357
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Small pituitary gland, Cleft palate	OMIM:614880
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia	ORPHA:6
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in...	OMIM:615237
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	ORPHA:231720
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Polyphagia, Decreased body weight	OMIM:620085
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to...	OMIM:606407
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
14Q11.2 Microduplication Syndrome	Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism	ORPHA:261229
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Small for gestational age, Anemia of inadequate production, An...	OMIM:224120
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis	OMIM:125440
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin...	OMIM:617638
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia	OMIM:620366
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, Hypoglycemia	ORPHA:231147
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Immunodeficiency 37	Colitis, Infectious encephalitis	OMIM:616098
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Lethargy, Failure to thrive	ORPHA:2089
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Pituitary Hormone Deficiency, Combined, 3	Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati...	OMIM:221750
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis	ORPHA:88643
Vascular Hyalinosis	Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption	OMIM:277175
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Malabsorption	ORPHA:100025
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Hypoglycemia, Neonatal hypoglycemia, Decreased body weight	ORPHA:231140
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
6Q16 Microdeletion Syndrome	Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re...	ORPHA:2495
Pituicytoma	Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ...	ORPHA:251623
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Obesity, Hypogonadotropic hypogonadism	ORPHA:177910
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia, Unsteady gait, Gait ataxia	OMIM:618158
Isolated Growth Hormone Deficiency, Type Ii	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	OMIM:173100
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Inability to walk, Flexion contracture, Obesity, Hypog...	OMIM:615547
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Increased circulating ACTH level, Abnormal circulating reni...	OMIM:202200
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia	OMIM:618858
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Minimal change glomerulonephritis	OMIM:617006
Short Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Failure to thrive, Ketotic hypoglycemia	ORPHA:26792
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co...	OMIM:617872
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El...	ORPHA:91347
Riboflavin Deficiency	Lethargy, Hypoglycemia	OMIM:615026
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Protein-losing enteropathy	OMIM:619063
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia	ORPHA:67048
Hsd10 Mitochondrial Disease	Restlessness, Hypoglycemia, Aggressive behavior, Choreoathetosis, Agitation	OMIM:300438
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95513
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H...	ORPHA:280356
Neonatal Hemochromatosis	Hypoglycemia	ORPHA:446
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia	ORPHA:37748
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Increased circulating ACT...	OMIM:614736
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95512
Pancreatic Lipase Deficiency	Fat malabsorption, Steatorrhea	OMIM:614338
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Lymphoproliferative Syndrome, X-Linked, 2	Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l...	OMIM:300635
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Vomiting	ORPHA:1201
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Inability to walk, Athetosis, Gait disturbance, Loss of ambulation	OMIM:618241
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Glucocorticoid Deficiency 2	Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level	OMIM:607398
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Hypoglycemia	OMIM:610006
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
2P21 Microdeletion Syndrome	Hypogonadism, Failure to thrive, Hypoglycemia	ORPHA:163693
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Endocardial Fibroelastosis	Anterior hypopituitarism, Hypoglycemia	ORPHA:2022
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Ataxia, Hypoglycemia	OMIM:246900
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t...	ORPHA:79644
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ...	OMIM:613960
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty	OMIM:612079
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98793
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert...	ORPHA:398079
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ...	OMIM:259700
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Combined Oxidative Phosphorylation Deficiency 47	Failure to thrive, Hypoglycemia, Dysphagia	OMIM:618958
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea	OMIM:615767
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177901
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ...	ORPHA:94086
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia	ORPHA:79084
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Hypoglycemia, Gait imbalance, Ankle flexion contracture	OMIM:618120
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox...	ORPHA:228402
Developmental And Epileptic Encephalopathy 108	Small pituitary gland	OMIM:620115
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Agitation, Pancre...	ORPHA:263455
Pancreatic Colipase Deficiency	Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency	ORPHA:309108
Hypercholanemia, Familial 1	Fat malabsorption, Steatorrhea	OMIM:607748
Combined Oxidative Phosphorylation Deficiency 36	Failure to thrive, Hypoglycemia	OMIM:617950
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Malabsorption, Diarrhea, Steatorrhea, Hematochezia, Pr...	ORPHA:2070
Chylomicron Retention Disease	Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Steatorrhea	OMIM:246700
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli...	OMIM:618549
Combined Oxidative Phosphorylation Deficiency 52	Lethargy, Hypoglycemia, Anorexia, Adrenal insufficiency	OMIM:619386
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Failure to thrive, Flexion contracture, Anisocytosis, Camptodactyly	OMIM:604273
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:604367
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,...	ORPHA:26790
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus	OMIM:610947
Pyruvate Dehydrogenase E3 Deficiency	Lethargy, Failure to thrive, Ataxia, Hypoglycemia	ORPHA:2394
Immunodeficiency 76	Chronic diarrhea, Colitis, Recurrent pneumonia	OMIM:619164
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hypoglycemia	OMIM:619048
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Ataxia, Camptodactyly of finger, Hypoglycemia, Dysmetria	ORPHA:48431
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia	OMIM:618856
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg...	ORPHA:77297
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Congenital Disorder Of Glycosylation, Type Iiq	Small pituitary gland	OMIM:617395
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Bloody diarrhea	OMIM:614328
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Congenital pyloric atresia	OMIM:612138
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy	OMIM:613502
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Mednik Syndrome	Death in infancy, Jejunal atresia, Diarrhea, Death in childhood, Neonatal death, Volvulus, Microc...	OMIM:609313
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, Impulsivity, Precocious puberty, Flexion contracture, Increased body weight, ...	ORPHA:398069
Cog2-Cdg	Small pituitary gland	ORPHA:435934
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Delayed puberty, A...	ORPHA:95496
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia	OMIM:618160
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Hypoglycemia	ORPHA:289504
Immunodeficiency 70	Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia	OMIM:618969
Immunodeficiency 14B, Autosomal Recessive	Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si...	OMIM:619281
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Small for gestational age, Hypoglycemia	OMIM:615160
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Ileal ulcer, Anterior uveitis, Colitis, Skin rash	OMIM:616744
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s...	OMIM:615962
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Cleft palate, Hypogon...	OMIM:615849
Diabetes Mellitus, Permanent Neonatal, 3	Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne	OMIM:604416
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Diarrhea, Death in childhood, Protein-losing enteropathy, Vomiting, Steatorrhea	OMIM:602579
Propionic Acidemia	Hypoglycemia	ORPHA:35
Septooptic Dysplasia	Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp...	OMIM:182230
Solitary Rectal Ulcer Syndrome	Anal fissure, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipation, Bloody mucoid...	ORPHA:209964
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Diarrhea, Protein-losing enteropathy	ORPHA:103910
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia, Failure to thrive, Agitation, Ataxia	OMIM:619046
Galactokinase Deficiency	Hypergonadotropic hypogonadism, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Failur...	ORPHA:79237
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Failure to thrive in infancy, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia	OMIM:611209
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-los...	OMIM:175500
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Hepatosple...	OMIM:612840
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Hypoglycemia, Central hypot...	OMIM:616113
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Inability to walk, Failure to thrive, Hypoglycemia	OMIM:614739
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Unsteady gait, Hypoglycemia	ORPHA:79096
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:79159
Microvillus Inclusion Disease	Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea	ORPHA:2290
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia	OMIM:614741
Pyruvate Carboxylase Deficiency	Athetosis, Hypoglycemia	OMIM:266150
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Delayed puberty, Hyperinsulinemic hy...	OMIM:616033
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation...	OMIM:243180
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Solitary Fibrous Tumor	Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss	ORPHA:2126
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Failure to thrive, Hypoglycemia, Delayed puberty	ORPHA:369
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer, P...	OMIM:131100
Pediatric-Onset Graves Disease	Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu...	ORPHA:525731
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypo...	ORPHA:73272
Thoraco-Abdominal Enteric Duplication	Meningocele, Intestinal malrotation, Duodenal stenosis	ORPHA:1759
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Precocious puberty in females, Aggressive behavior, Inab...	ORPHA:72
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Glucose intolerance	ORPHA:75563
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Man1B1-Cdg	Truncal obesity, Broad-based gait, Polyphagia	ORPHA:397941
Post-Traumatic Pituitary Deficiency	Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadis...	ORPHA:95619
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren...	OMIM:617600
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes...	OMIM:618108
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Microphthalmia, Syndromic 12	Neonatal death, Cryptorchidism, Intestinal malrotation, Cleft palate	OMIM:615524
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Immunodeficiency 60 And Autoimmunity	Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease	OMIM:618394
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi...	OMIM:608594
Ornithine Transcarbamylase Deficiency	Hypoglycemia	ORPHA:664
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p...	OMIM:613038
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Mitchell-Riley Syndrome	Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ...	OMIM:615710
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy, Failure to thrive, Hypoglycemia	OMIM:210200
Pyridoxine-Dependent Epilepsy	Restlessness, Hypoglycemia	ORPHA:3006
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Classic Galactosemia	Decreased serum insulin-like growth factor 1, Ataxia, Hypoglycemia, Gait disturbance, Gait imbala...	ORPHA:79239
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Trichohepatoenteric Syndrome 2	Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis	OMIM:614602
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Ataxia, Hypoglycemia, Cachexia, Distal arthrogryposis, Lethargy	ORPHA:42
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome	OMIM:201910
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Small for gestational age, Hypoglycemia	ORPHA:231137
Camurati-Engelmann Disease	Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic...	OMIM:131300
Infantile Liver Failure Syndrome 2	Lethargy, Hypoglycemia	OMIM:616483
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Small for gestational age, Hypoglycemia	OMIM:614702
Cog8-Cdg	Failure to thrive, Ataxia, Hypoglycemia	ORPHA:95428
Mitochondrial Complex I Deficiency, Nuclear Type 33	Loss of ambulation, Small for gestational age, Hypoglycemia, Dysphagia	OMIM:618253
Autoinflammation With Infantile Enterocolitis	Episodic vomiting, Villous atrophy, Secretory diarrhea, Enterocolitis	OMIM:616050
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperactivity, Ataxia, Reduced intraabdominal adipose tissue...	ORPHA:363400
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:91355
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Alg1-Cdg	Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy	ORPHA:79327
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Inguinal hernia, Increased mean platelet volume, Camptodactyly	OMIM:616737
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ...	ORPHA:67045
Laron Syndrome	Abnormality of the endocrine system, Truncal obesity, Hypoglycemia, Delayed puberty	ORPHA:633
Cholestasis, Progressive Familial Intrahepatic, 2	Death in childhood, Fat malabsorption, Diarrhea, Hepatocellular carcinoma	OMIM:601847
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Cryptorchidism, Patent ductus arteriosus, Diarrhea, Protein-losing enteropathy,...	OMIM:608104
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis...	OMIM:607330
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia	ORPHA:364
Esophagitis, Eosinophilic, 2	Vomiting, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Vomiting, Esophagitis, Dysphagia	OMIM:610247
Ane Syndrome	Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h...	ORPHA:157954
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,...	OMIM:201400
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Diabetes mellitus, Small for gestational age, Dorsocervical fat pad, Hypoglycem...	ORPHA:391408
Septo-Optic Dysplasia Spectrum	Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Esophageal atresia, Tracheoesop...	ORPHA:3157
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin...	ORPHA:2298
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea...	OMIM:269700
Fg Syndrome Type 1	Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Pyloric stenosis, High...	ORPHA:93932
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia	OMIM:620137
Maple Syrup Urine Disease	Lethargy, Ataxia, Hypoglycemia	OMIM:248600
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Diarrhea, Vomiting, Constipa...	OMIM:155310
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple...	ORPHA:251992
Glycogen Storage Disease Ixb	Hypoglycemia	OMIM:261750
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:300942
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Death in infancy, Intestinal malrotation, Hypoperistal...	ORPHA:2241
Glycogen Storage Disease Iii	Hypoglycemia	OMIM:232400
Prader-Willi Syndrome	Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to growth hormone...	OMIM:176270
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Dysmetria, Athetosis	OMIM:617710
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red...	OMIM:614856
Mpi-Cdg	Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting	ORPHA:79319
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus	ORPHA:791
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Hypoadrenocorticism, Familial	Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa...	OMIM:606069
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia	OMIM:608600
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fas...	OMIM:246200
Thrombocytopenia 1	Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm...	OMIM:313900
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Hydrocele testis, Protein-losing enteropathy	OMIM:618154
Fanconi-Bickel Syndrome	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino...	ORPHA:2088
Hypertriglyceridemia 1	Glucose intolerance	OMIM:145750
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:615926
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Mungan Syndrome	Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Megaduodenum	OMIM:611376
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Cryptorchidism, Rectal atresia, Neonatal death, Anal atresia	OMIM:613390
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Anorexia, Pituitary adeno...	ORPHA:199299
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy, Hypoglycemia	ORPHA:156
Hsd10 Disease, Infantile Type	Restlessness, Hypoglycemia, Choreoathetosis, Dysphagia, Loss of ambulation, Paroxysmal bursts of ...	ORPHA:391428
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy, Hypoglycemia	OMIM:201450
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Tr...	OMIM:601346
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Interstitial pneumonitis, Enterocolitis, Ulcerative colitis	OMIM:614878
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula	OMIM:601110
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ...	ORPHA:263665
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Trigonocephaly 1	High, narrow palate, Meckel diverticulum	OMIM:190440
Refractory Celiac Disease	Villous atrophy, Malabsorption, Chronic diarrhea, Protein-losing enteropathy, Jejunitis	ORPHA:398063
Luscan-Lumish Syndrome	Polyphagia, Obesity, Aggressive behavior	OMIM:616831
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy, Hypoketotic hypoglycemia	OMIM:600649
Carnitine Deficiency, Systemic Primary	Impaired gluconeogenesis, Lethargy, Recurrent hypoglycemia, Failure to thrive	OMIM:212140
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Silver-Russell Syndrome Due To A Point Mutation	Inguinal hernia, Small for gestational age, Hypoglycemia, Attention deficit hyperactivity disorde...	ORPHA:397590
Tenorio Syndrome	Gait disturbance, Hypoinsulinemia, Hypoglycemia	OMIM:616260
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Glycogen Storage Disease Ixa1	Hypoglycemia	OMIM:306000
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Colitis, Protracted diarrhea, Malabsorption	OMIM:209920
Familial Renal Glucosuria	Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria	ORPHA:69076
Alg6-Cdg	Macroglossia, Protein-losing enteropathy	ORPHA:79320
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Death in infancy, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia,...	OMIM:243150
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,...	OMIM:619476
Hemochromatosis, Neonatal	Hypoglycemia	OMIM:231100
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Dysphagia	ORPHA:163961
Beta-Ketothiolase Deficiency	Ataxia, Hypoglycemia, Anorexia, Weight loss, Agitation, Oral aversion, Hyperglycemia	ORPHA:134
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia	OMIM:612469
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu...	ORPHA:79277
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia	OMIM:618838
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Lethargy, Failure to thrive, Hypoglycemia	OMIM:251000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Glycosuria, Diabetes mellitus, Hypoglycemia, Large for gestational age	OMIM:616026
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Gait ataxia, Recurrent hypoglycemia, Truncal ataxia, Hypothyroidism, D...	OMIM:616817
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Colonic Atresia	Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec...	ORPHA:1782
Immunodeficiency 40	Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can...	OMIM:616433
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Trisomy 18P	Polyphagia, Attention deficit hyperactivity disorder	ORPHA:1715
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Patent ductus arteriosus, Duodenal stenosis	ORPHA:2547
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:151660
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Lymphoid nodular hyperplasia, Attention deficit hyperactivity disorder	ORPHA:210548
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Failure to thrive, Hypoglycemia	OMIM:245400
Bachmann-Bupp Syndrome	Large for gestational age, Hypoglycemia, Attention deficit hyperactivity disorder, Aggressive beh...	OMIM:619075
Glycogen Storage Disease Ixd	Hypoglycemia	OMIM:300559
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Colitis, Recurrent sinusitis	OMIM:613101
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro...	ORPHA:199296
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Lethargy, Failure...	ORPHA:71212
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Chronic diarrhea, Vomiting	OMIM:619510
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Propionic Acidemia	Lethargy, Failure to thrive, Hypoglycemia	OMIM:606054
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting	OMIM:616809
Fructose-1,6-Bisphosphatase Deficiency	Lethargy, Hypoglycemia	OMIM:229700
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Polyphagia, Abnormal dental enamel morphology, Obesity	ORPHA:251004
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia	OMIM:615453
Intellectual Developmental Disorder, Autosomal Dominant 1	Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent ...	OMIM:156200
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu...	OMIM:259720
Diastrophic Dysplasia	Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness	ORPHA:628
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose...	ORPHA:2457
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis	OMIM:615190
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse, Bowel incontinence	OMIM:176780
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I...	OMIM:301074
Abetalipoproteinemia	Fat malabsorption	OMIM:200100
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Bangstad Syndrome	Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le...	ORPHA:1227
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio...	ORPHA:436159
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Impaired gluconeogenesis, Hypoglycemia, Fasting hypoglycemia	OMIM:261680
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Syndromic Diarrhea	Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypopla...	ORPHA:84064
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Splenomegaly, Thrombocytosis, Failure ...	OMIM:222470
Spondyloepiphyseal Dysplasia Tarda	Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os...	ORPHA:93284
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis, Decreased body weight	OMIM:617306
Glutaric Acidemia I	Choreoathetosis, Failure to thrive, Hypoglycemia	OMIM:231670
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland	OMIM:614195
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Death in infancy, Hypoglycemia	OMIM:618835
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg...	OMIM:618278
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia	OMIM:617049
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Death in infancy, Hypoglycemia	OMIM:618839
Abcd Syndrome	Neonatal death, Aganglionic megacolon, Total intestinal aganglionosis	OMIM:600501
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ...	OMIM:618131
Poems Syndrome	Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Weight loss, Sclerosis of skull ba...	ORPHA:2905
Houge-Janssens Syndrome 1	Hypoglycemia, Gait ataxia	OMIM:616355
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Osteopo...	OMIM:239000
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Enamel hypomineralization, Dental enamel pits	ORPHA:3352
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne...	OMIM:614700
Glycogen Storage Disease Ixc	Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Microcolon	OMIM:619362
Netherton Syndrome	Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia	OMIM:256500
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg...	OMIM:609069
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification	ORPHA:163649
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy, Failure to thrive, Small for gestational age, Hypoketotic hypoglycemia	OMIM:609015
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Increased mean platelet volume, Flexion contracture, Camptodactyly, Thrombocytop...	ORPHA:487796
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Smith-Kingsmore Syndrome	Umbilical hernia, Hypoglycemia, Large for gestational age	OMIM:616638
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Failure to thrive, Hypoglycemia	OMIM:210210
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy, Hypoglycemia, Neonatal hypoglycemia	OMIM:212138
D-Glyceric Aciduria	Failure to thrive, Tongue thrusting, Hypoglycemia	OMIM:220120
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh...	ORPHA:293987
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Bile Acid Synthesis Defect, Congenital, 1	Fat malabsorption, Acholic stools, Diarrhea, Steatorrhea	OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Fat malabsorption, Diarrhea	OMIM:211600
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC...	ORPHA:90790
Reni Syndrome	Ataxia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism	OMIM:617575
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi...	ORPHA:96121
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Broad-based gait, Aggressive behavior, Polyphagia, Self-mutilation	ORPHA:251028
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Salt craving, Hypoglycemia, Anorexia, Adrenal hypoplasia, P...	ORPHA:95409
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, Functional abnormality of the...	ORPHA:90362
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic choles...	ORPHA:69663
Silver-Russell Syndrome 1	Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly...	OMIM:180860
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	ORPHA:226307
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Intestinal malrotation	OMIM:619431
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Pituitary hypothyroidism, Anterior pituitary hypoplasia	OMIM:619983
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Fasting hypoglycemia	ORPHA:436174
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat...	ORPHA:2137
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma...	ORPHA:37042
Congenital Generalized Lipodystrophy	Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue loss, Insulin res...	ORPHA:528
Pericardial And Diaphragmatic Defect	Patent ductus arteriosus, Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal ...	ORPHA:2847
Duodenal Atresia	Duodenal atresia	OMIM:223400
Isolated Complex I Deficiency	Diabetes mellitus, Ataxia, Hypoglycemia, Lethargy, Failure to thrive	ORPHA:2609
Mednik Syndrome	Abnormal intestine morphology	ORPHA:171851
Addison Disease	Hypoparathyroidism, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal cal...	ORPHA:85138
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hyperactivity, Gait disturbance, Neonatal hypoglycemia, Large for gestational age	ORPHA:457485
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res...	ORPHA:293978
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Chronic diarrhea, Villous atrophy, Ileus	OMIM:304790
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron...	ORPHA:911
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Umbilical hernia, Inguinal hernia, Hypoglycemia, Elbow contracture	OMIM:620275
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis...	OMIM:608612
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,...	ORPHA:79076
Shigellosis	Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Uveitis, B...	ORPHA:810
Werner Syndrome	Increased bone mineral density, Lipoatrophy, Lipodystrophy, Joint stiffness, Osteoporosis, Slende...	ORPHA:902
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ...	ORPHA:2232
Hereditary Mixed Polyposis Syndrome	Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema...	ORPHA:157794
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Lymphocytosis, Cellulitis, Failure to thrive, Thrombocytopenia	OMIM:617718
Deeah Syndrome	Death in infancy, Decreased response to growth hormone stimulation test, Anterior pituitary hypop...	OMIM:619004
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Pseudohypoparathyroidism Type 1A	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:79443
Pseudohypoparathyroidism Type 1C	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:79444
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci...	ORPHA:769
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Pyoderma Gangrenosum	Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine	ORPHA:48104
Dyskeratosis Congenita, Autosomal Recessive 8	Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture	OMIM:620133
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Hypoglycemia, Premature thelarche, Oral-pharyngeal dysphagia, Gait ataxia, Gait disturban...	OMIM:616878
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Small for gestational age, Thickened cortex of long bones, Anemia	OMIM:127000
Carnitine Palmitoyltransferase I Deficiency	Lethargy, Hypoketotic hypoglycemia	OMIM:255120
Pycnodysostosis	Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s...	ORPHA:763
Chylomicron Retention Disease	Fat malabsorption, Vomiting, Diarrhea, Steatorrhea	ORPHA:71
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Hypoglycemia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Contracture o...	ORPHA:457279
Congenital Disorder Of Glycosylation, Type Ig	Lethargy, Failure to thrive, Small for gestational age, Hypoglycemia	OMIM:607143
Immunodeficiency, Common Variable, 10	Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Hypoglycemia, Decrease...	OMIM:615577
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Secretory diarrhea...	OMIM:619377
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Patent ductus arteriosus, Volv...	ORPHA:210122
Acromelic Frontonasal Dysplasia	Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia, Median cleft palate	ORPHA:1827
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti...	ORPHA:2686
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ...	ORPHA:793
Adnp Syndrome	Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper...	ORPHA:404448
Irida Syndrome	Abnormal intestine morphology	ORPHA:209981
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypothyroidism, Joint contracture, Failure to thrive, Hypoglycemia	OMIM:618005
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o...	ORPHA:324964
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Serkal Syndrome	Malrotation of small bowel	ORPHA:139466
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U...	OMIM:618935
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Congenital Bile Acid Synthesis Defect Type 3	Fat malabsorption, Bile duct proliferation	ORPHA:79302
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia	OMIM:618999
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Failure to thrive, Small for gestational age, Neonatal hypoglycemia, Hypoglycemia	OMIM:619055
Pearson Marrow-Pancreas Syndrome	Villous atrophy, Pancreatic fibrosis, Anorexia, Malabsorption, Chronic diarrhea, Death in childho...	OMIM:557000
Perlman Syndrome	Inguinal hernia, Hyperinsulinemia, Femoral hernia	ORPHA:2849
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ...	ORPHA:77261
Mitochondrial Trifunctional Protein Deficiency 2	Neonatal death, Death in infancy, Hypoglycemia	OMIM:620300
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Colon ...	OMIM:174900
Immunodeficiency 97 With Autoinflammation	Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Colitis, Recurrent ot...	OMIM:619802
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland...	ORPHA:64744
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf...	ORPHA:98813
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ...	OMIM:115470
Osteopathia Striata-Cranial Sclerosis Syndrome	Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular...	ORPHA:2780
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ...	ORPHA:67
Timothy Syndrome	Hypothyroidism, Hypoglycemia	OMIM:601005
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Fat malabsorption	OMIM:214950
Aica-Ribosuria Due To Atic Deficiency	Hypoglycemia	OMIM:608688
Mitochondrial Complex I Deficiency, Nuclear Type 20	Death in infancy, Hypoglycemia, Death in childhood	OMIM:611126
Weaver Syndrome	Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia	OMIM:277590
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Metachromatic Leukodystrophy	Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde...	ORPHA:512
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ataxia, Hypoglycemia, Hypoglycemic seizures, Dysphagia, Compensated hypothyroidism	ORPHA:480864
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Tip-toe gait, Lethargy, Hypoketotic hypoglycemia	ORPHA:746
Basilicata-Akhtar Syndrome	Precocious puberty, Neonatal hypoglycemia, Camptodactyly	OMIM:301032
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc...	ORPHA:33364
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri...	OMIM:615873
Pyruvate Carboxylase Deficiency	Failure to thrive, Ataxia, Hypoglycemia, Anorexia, Tip-toe gait, Abnormal temper tantrums, Compul...	ORPHA:3008
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren...	ORPHA:813
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia	OMIM:246450
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Failure to thrive, Small for gestational age, Hypoglycemia	OMIM:617093
Cole Disease	Hyperglycemia	OMIM:615522
Immunodeficiency 17	Death in infancy, Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent...	OMIM:615607
Giant Axonal Neuropathy	Abnormal pituitary gland morphology	ORPHA:643
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Lethargy	OMIM:201475
Fructose-1,6-Bisphosphatase Deficiency	Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia	ORPHA:348
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Small for gestational age, Hypoglycemia, Adrenal insufficiency, Lethargy	OMIM:307030
Immunodeficiency 31C	Villous atrophy, Diarrhea, Gastrointestinal eosinophilia, Protein-losing enteropathy, Intussuscep...	OMIM:614162
Pituitary Apoplexy	Hypoglycemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti...	ORPHA:95613
Desmosterolosis	Splenomegaly, Increased bone mineral density, Failure to thrive, Osteopetrosis	ORPHA:35107
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Aggressive behavior, Dysmetria, Athetosis, Difficulty walking, Dysphagia, Neonatal hypogl...	ORPHA:572798
Duodenal Atresia	Annular pancreas, Duodenal atresia	ORPHA:1203
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Osteopetrosis	OMIM:618541
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc...	OMIM:224300
Multiple Acyl-Coa Dehydrogenase Deficiency	Inability to walk, Hypoglycemia, Dysphagia	ORPHA:26791
Isolated Exencephaly	Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes	ORPHA:563612
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo...	ORPHA:1798
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Umbilical hernia, Small for gestational age, Hypoglycemia	OMIM:614501
Muir-Torre Syndrome	Colonic diverticula, Ovarian neoplasm, Adenoma sebaceum, Colon cancer, Benign gastrointestinal tr...	OMIM:158320
Mirage Syndrome	Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency, Decrease...	OMIM:617053
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypoglycemia, Increased body weight, Fasting hypoglycemia, Delayed puberty, Failure to thrive	ORPHA:264580
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia	OMIM:301220
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain	OMIM:203300
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Cryptorchidism, Pancreatic lymphangiectasis, Cleft palate, High palate, Protein...	OMIM:235255
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Overweight, Obesity, Lethargy, Hypoketotic hypoglycemia	ORPHA:26793
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Anemia	ORPHA:35687
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia	OMIM:619737
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Joi...	ORPHA:355
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy, Fasting hypoglycemia, Hypoketotic hypoglycemia	ORPHA:159
Combined Oxidative Phosphorylation Defect Type 39	Loss of ambulation, Tip-toe gait, Neonatal hypoglycemia, Congenital foot contractures	ORPHA:565624
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis...	OMIM:613457
Scedosporiosis	Abnormal jejunum morphology	ORPHA:449280
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Patent ductus arteriosus, Peritonitis, Microcolon, Ileal atresia	OMIM:619351
12Q14 Microdeletion Syndrome	Abnormality of the spleen, Osteopoikilosis, Failure to thrive	ORPHA:94063
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Pyloric stenosis, Meckel diverticulum	OMIM:616395
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:248370
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Lethargy, Failure to thrive, Hypoglycemia	OMIM:617156
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Ataxia, Anorexia, Weight loss, Recurrent hypoglycemia, Lethargy	ORPHA:20
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis...	ORPHA:90038
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Hypoketotic hypoglycemia	OMIM:610768
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cirrhosis, Hepatocellul...	ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 37	Failure to thrive, Hypoglycemia	OMIM:618329
Diarrhea 10, Protein-Losing Enteropathy Type	Death in infancy, Cryptorchidism, Secretory diarrhea, Hematochezia, Protein-losing enteropathy	OMIM:618183
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, Chronic diarrhea	OMIM:606367
Pseudohypoparathyroidism Type 1B	Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,...	ORPHA:94089
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Villous atrophy, Diarrhea, Steatorrhea, Vomiting, Death in childhood	OMIM:212065
Oculoskeletodental Syndrome	Macroglossia, Cryptorchidism, Protein-losing enteropathy	OMIM:618440
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia	OMIM:175700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia, Elbow flexion contracture, Knee flexion contracture, Lethargy	OMIM:608836
Familial Hemophagocytic Lymphohistiocytosis	Maculopapular exanthema, Skin rash, Colitis, Decreased liver function, Erythroderma, Infectious e...	ORPHA:540
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Broad-based gait, Ataxia, Hypoglycemia, Corneal scarring, Recurrent hypoglycemia, Loss of ambulat...	OMIM:256810
Leigh Syndrome	Multiple joint contractures, Ataxia, Hypoglycemia, Choreoathetosis, Athetosis, Dysphagia, Failure...	ORPHA:506
Fanconi-Bickel Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:227810
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Dilated Cardiomyopathy With Ataxia	Repetitive compulsive behavior, Ataxia, Hypothyroidism, Neonatal hypoglycemia	ORPHA:66634
Iga Pemphigus	Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess	ORPHA:555905
Sotos Syndrome	Aggressive behavior, Increased body weight, Glucose intolerance, Attention deficit hyperactivity ...	OMIM:117550
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Umbili...	OMIM:235510
Microphthalmia, Syndromic 3	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Cryptorchidism, Esophageal atresia,...	OMIM:206900
Congenital Bile Acid Synthesis Defect Type 2	Fat malabsorption, Steatorrhea	ORPHA:79303
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis	OMIM:175510
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog...	ORPHA:2658
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain...	OMIM:619381
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:96182
Duplication Of The Pituitary Gland	Abnormal hypothalamus morphology, Volvulus, Abnormal pituitary gland morphology, Cleft palate	ORPHA:314621
Glutaryl-Coa Dehydrogenase Deficiency	Athetosis, Ataxia, Fasting hypoglycemia, Dysphagia	ORPHA:25
Otopalatodigital Syndrome Type 2	Omphalocele, Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal s...	ORPHA:90652
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Thyroid carcinoma, Lipoma, Hashimoto thyr...	ORPHA:109
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Choreoathetosis, Athetosis, Inability to walk by childhood/adolescence, Hypoglycemia	OMIM:620224
Leprechaunism	Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism...	ORPHA:508
Shashi-Pena Syndrome	Hypoglycemia	OMIM:617190
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Failure to thrive	ORPHA:99901
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Failure to thrive, Hypoglycemia	OMIM:251880
Lipodystrophy, Congenital Generalized, Type 4	Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, Dysphagia, Failure to t...	OMIM:613327
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Hypoglycemia, Glycosuria	OMIM:231680
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick...	ORPHA:89936
Hydranencephaly	Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland	ORPHA:2177
1P36 Deletion Syndrome	Camptodactyly of finger, Hypothyroidism, Polyphagia, Obesity, Self-injurious behavior, Gait distu...	ORPHA:1606
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,...	ORPHA:309031
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus	OMIM:615812
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Recurrent hypoglycemia, Fasting hypoglycemia, Increased body weight, Ketotic hypoglycemia	ORPHA:79240
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Neo...	ORPHA:2929
Tarp Syndrome	Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Meckel diverticulum	OMIM:311900
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis	OMIM:618476
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypoglycemia, Aggressive behavior, Unsteady gait, Flexion contracture, Choreoathetosis, Failure t...	ORPHA:17
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:610829
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy, Hypoglycemia	OMIM:615751
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia	ORPHA:681
Schwartz-Jampel Syndrome	Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ...	ORPHA:800
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Postprandial hyperglycemia	ORPHA:440713
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland	OMIM:619479
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula...	ORPHA:289548
Perlman Syndrome	Hypoglycemia, Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Large for gesta...	OMIM:267000
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Umbilical hernia, Abnormal repeti...	OMIM:301066
Intussusception	Intussusception	OMIM:147710
3-Methylglutaconic Aciduria Type 7	Choreoathetosis, Hypothyroidism, Neonatal hypoglycemia	ORPHA:445038
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hyperglycemia	OMIM:615954
Dextrocardia	Meckel diverticulum, Pancreatic hypoplasia, Intestinal malrotation	ORPHA:1666
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha...	OMIM:620330
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon...	ORPHA:168558
Hyperlipoproteinemia, Type Id	Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
3-Methylglutaconic Aciduria, Type Viib	Choreoathetosis, Flexion contracture, Ataxia, Neonatal hypoglycemia	OMIM:616271
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Cholera	Lethargy, Hypoglycemia	ORPHA:173
Matthew-Wood Syndrome	Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis	ORPHA:2470
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Hypoglycemia	OMIM:608779
Dyrk1A-Related Intellectual Disability Syndrome	Anterior pituitary hypoplasia, Cryptorchidism, Pyloric stenosis, Gastroesophageal reflux, Breast ...	ORPHA:464306
Cerebral Visual Impairment	Neonatal hypoglycemia, Attention deficit hyperactivity disorder	ORPHA:447788
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Constipation, Ileus, Aganglionic megacolon, Microcolon	ORPHA:163746
Short Syndrome	Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:269880
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Chronic diarrhea, Esophageal varix	OMIM:614576
Parenteral Nutrition-Associated Cholestasis	Biliary hyperplasia, Cholelithiasis, Villous atrophy	ORPHA:567983
Orthostatic Hypotension 1	Neonatal hypoglycemia, Reduced circulating prolactin concentration	OMIM:223360
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Hypoglycemia	OMIM:619355
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Posterior pituitary hypoplasia, Abnormality of the anterior pituitary	ORPHA:75389
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Anemia	OMIM:612301
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female...	ORPHA:90794
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ...	ORPHA:2908
Acquired Generalized Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Generalized lipodystro...	ORPHA:79086
Congenital Tracheal Stenosis	Abnormal stomach morphology, Patent ductus arteriosus, Tracheoesophageal fistula, Duodenal stenos...	ORPHA:141127
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Reactive Arthritis	Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati...	ORPHA:29207
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi...	ORPHA:177907
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia	ORPHA:228305
Glycogen Storage Disease Ia	Hypoglycemia, Fasting hypoglycemia, Delayed puberty	OMIM:232200
Congenital Disorder Of Glycosylation, Type It	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	OMIM:614921
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Cryptorchidism, Pancreatic lymphangiectasis, High palate, Protein-losing enteropathy	ORPHA:1655
Raine Syndrome	Arthrogryposis multiplex congenita, Increased bone mineral density, Enamel hypoplasia, Subperiost...	OMIM:259775
Whim Syndrome	Abnormal small intestine morphology, Parotitis	ORPHA:51636
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Failure to thrive, Failure to thrive in infancy, Neonatal hypoglycemia, Hypoglycemia	OMIM:619418
Oculodentodigital Dysplasia	Ataxia, Camptodactyly of finger, Abnormal dental enamel morphology, Hypoglycemia, Gait disturbanc...	ORPHA:2710
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Central adrenal insufficiency, Flexion contracture, Hypoglycemia, Decreased response to growth ho...	OMIM:616007
Fructose Intolerance, Hereditary	Lethargy, Failure to thrive, Hypoglycemia, Glycosuria	OMIM:229600
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Anal atresia, Persistent cloaca	OMIM:615709
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hypoplasia of the small intestine, Pancreatic fibrosis	OMIM:200995
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Diarrhea, Esophageal carcinoma, Enterocolitis, Abnormal intestine morphology	ORPHA:391487
Lenz-Majewski Hyperostotic Dwarfism	Anterior pituitary hypoplasia, Cryptorchidism, Cleft palate, Anteriorly placed anus, Microglossia	OMIM:151050
Sepsis In Premature Infants	Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali...	ORPHA:90051
Desmosterolosis	Generalized osteosclerosis, Failure to thrive, Joint contracture of the hand, Arthrogryposis mult...	OMIM:602398
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Flexion contracture, Neonatal hypoglycemia	ORPHA:35173
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Anal stenosis, Anterior pituitary hypoplasia, Pyloric stenosis, Axil...	OMIM:181450
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Lethargy, Failure to thrive, Ataxia, Hypoglycemia	ORPHA:79282
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Chole...	OMIM:124000
Mitochondrial Complex I Deficiency, Nuclear Type 1	Lethargy, Failure to thrive, Ataxia, Hypoglycemia	OMIM:252010
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, Secretory...	ORPHA:544482
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Lipoatrophy, Limitation of joint mobility...	ORPHA:79474
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Aggressive behavior, Hypothyroidism, Obesity, Congenital hypothyroidism,...	OMIM:607872
Necrotizing Enterocolitis	Hyperglycemia, Abnormal glucose homeostasis	ORPHA:391673
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ...	OMIM:615895
Alstrom Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i...	OMIM:203800
Histiocytoid Cardiomyopathy	Lethargy, Failure to thrive, Hypoglycemia	ORPHA:137675
Kabuki Syndrome 2	Neonatal hypoglycemia, Decreased body weight	OMIM:300867
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficulties i...	ORPHA:3260
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati...	ORPHA:3243
Immunodeficiency 59 And Hypoglycemia	Hypoglycemia	OMIM:233600
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, ...	OMIM:265380
Alg12-Cdg	Decreased serum insulin-like growth factor 1, Recurrent hypoglycemia, Abnormal adipose tissue mor...	ORPHA:79324
Combined Immunodeficiency-Enteropathy Spectrum	Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Bloody diarrhea, Hypopl...	ORPHA:436252
Thymoma	Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis, Neoplasm of the gastroint...	ORPHA:99867
Holoprosencephaly	Omphalocele, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Congenital diaphragma...	ORPHA:2162
Maternal Uniparental Disomy Of Chromosome 4	Fat malabsorption, Diarrhea	ORPHA:96180
Hereditary Fructose Intolerance	Lethargy, Reactive hypoglycemia	ORPHA:469
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul...	OMIM:619708
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Cleft soft pala...	OMIM:619503
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Ataxia, Small for gestational age, Hypoglycemia, Dysmetria, Dysphagia, Truncal a...	OMIM:220111
14Q22Q23 Microdeletion Syndrome	Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of the hypothalamu...	ORPHA:264200
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper...	OMIM:618213
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celiac disease...	ORPHA:227982
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Perianal derm...	OMIM:619573
Plague	Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem...	ORPHA:707
Isolated Biliary Atresia	Atretic gallbladder, Acholic stools, Fat malabsorption, Bile duct proliferation, Hypopituitarism	ORPHA:30391
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Primary adrenal insufficiency...	ORPHA:227990
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Large placenta, Patent ductus arteriosus, Anteriorly p...	ORPHA:1708
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Recurrent fractures, Thrombocytopenia, Leukopenia, Elliptocytosis, Osteopetrosis, F...	ORPHA:2785
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Diarrhea, Hepatocellular adenoma, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Inflammat...	ORPHA:79259
Cocaine Intoxication	Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n...	ORPHA:90068
Alg9-Cdg	Villous atrophy, Diarrhea, Hypoplasia of the ovary, Gastroesophageal reflux, Hypoplastic nipples,...	ORPHA:79328
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Intestinal malrotation, Patent ductus arteriosus, Colon perforation, Umbilica...	OMIM:600001
Dend Syndrome	Hyperglycemia	ORPHA:79134
Fryns Syndrome	Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Esophag...	OMIM:229850
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Polydipsia, Biliary hyperplasia, Pancreatic cyst...	ORPHA:731
Tyrosinemia, Type I	Failure to thrive, Hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:276700
Musculocontractural Ehlers-Danlos Syndrome	Cryptorchidism, Malrotation of small bowel, Cleft palate, Constipation, High palate	ORPHA:2953
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis	OMIM:241410
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Neonatal hypoglycemia, Dysphagia	OMIM:617248
Menkes Disease	Inguinal hernia, Hypoglycemia, Atypical scarring of skin, Hernia, Umbilical hernia, Chondrocalcin...	ORPHA:565
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Patchy osteosclerosis	ORPHA:2323
Tarp Syndrome	Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodules	ORPHA:2886
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ...	ORPHA:562639
Rajab Interstitial Lung Disease With Brain Calcifications 1	Inguinal hernia, Small for gestational age, Hypoglycemia, Failure to thrive, Slender build	OMIM:613658
Autoimmune Lymphoproliferative Syndrome	Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,...	ORPHA:3261
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure	ORPHA:331
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints	ORPHA:50945
Glycogen Storage Disease Ib	Hypoglycemia, Delayed puberty	OMIM:232220
Primary Fanconi Renotubular Syndrome	Glycosuria, Hypoglycemia, Weight loss	ORPHA:3337
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Enamel hypoplasia, Increased sus...	OMIM:119600
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,...	ORPHA:667
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia	ORPHA:90065
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Large for gestational age, Gait ataxia, Difficulty walking, Slender build, Neonatal hypoglycemia	ORPHA:457359
Primary Sclerosing Cholangitis	Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Abdominal pain, C...	ORPHA:171
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione...	OMIM:201750
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, High palate, Constipation, A...	OMIM:601776
Beckwith-Wiedemann Syndrome	Omphalocele, Inguinal hernia, Adrenocortical cytomegaly, Hypoglycemia, Congenital diaphragmatic h...	ORPHA:116
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Hi...	ORPHA:466791
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic...	OMIM:620185
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Cryptorchidism, Myelomeningocele, Cleft palat...	OMIM:219000
Wiskott-Aldrich Syndrome	Sinusitis, Eczema, Keratitis, Hematemesis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio...	ORPHA:906
Alström Syndrome	Ataxia, Dorsocervical fat pad, Decreased response to growth hormone stimulation test, Precocious ...	ORPHA:64
Meier-Gorlin Syndrome 7	Anal stenosis, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed anus, High pala...	OMIM:617063
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Carnitine Palmitoyltransferase Ii Deficiency	Hypoketotic hypoglycemia	ORPHA:157
Primary Hyperoxaluria	Generalized osteosclerosis, Failure to thrive, Recurrent fractures	ORPHA:416
Glycogen Storage Disease Ic	Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci...	OMIM:232240
Fanconi Anemia	Meckel diverticulum, Aganglionic megacolon, Spina bifida, Aplasia/Hypoplasia of the uvula, Crypto...	ORPHA:84
Simpson-Golabi-Behmel Syndrome	Omphalocele, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Congenital diaphragmatic her...	ORPHA:373
Abetalipoproteinemia	Fat malabsorption, Chronic diarrhea, Vomiting, Steatorrhea	ORPHA:14
Shwachman-Diamond Syndrome	Abnormality of the gastrointestinal tract, Decreased response to growth hormone stimulation test,...	ORPHA:811
Trisomy 8P	Cryptorchidism, Malrotation of small bowel, Cleft palate, Constipation, Aplasia/Hypoplasia of the...	ORPHA:264450
Fumarase Deficiency	Necrotizing enterocolitis, Hepatic failure, High palate	OMIM:606812
Marburg Hemorrhagic Fever	Lethargy, Hypoglycemia, Anorexia, Aggressive behavior	ORPHA:99826
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hypoketotic hypoglycemia	ORPHA:228308
Acute Liver Failure	Adrenal insufficiency, Agitation, Ataxia, Hypoglycemia	ORPHA:90062
Chilton-Okur-Chung Neurodevelopmental Syndrome	Cryptorchidism, Ankyloglossia, Anterior pituitary hypoplasia	OMIM:619841
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Inguinal hernia, Failure to thrive in i...	ORPHA:904
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Frontometaphyseal Dysplasia 2	Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha...	OMIM:617137
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Decreased circulating ACTH con...	OMIM:620305
Sclerosteosis 1	Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc...	OMIM:269500
Costello Syndrome	Achilles tendon contracture, Failure to thrive, Hypoglycemia	OMIM:218040
Isolated Permanent Neonatal Diabetes Mellitus	Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria	ORPHA:99885
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Spina bifida, Pancreatic cysts, Patent ductus arteriosus, Cleft palate, Meckel ...	OMIM:274000
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Restrictive Dermopathy	Aplasia/Hypoplastia of the eccrine sweat glands, Large placenta, Patent ductus arteriosus, Submuc...	ORPHA:1662
Down Syndrome	Aganglionic megacolon, Protruding tongue, Patent ductus arteriosus, Duodenal stenosis, Macrogloss...	OMIM:190685
Holoprosencephaly 1	Hypoglycemia, Diabetes insipidus, Adrenal hypoplasia	OMIM:236100
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Esophageal varix, Bile duct proliferation, Gastroesophageal reflux...	OMIM:619534
Autosomal Recessive Cutis Laxa Type 1	Pyloric stenosis, Small bowel diverticula	ORPHA:90349
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Splenopancreatic fusion, Sclerosis of skull base, Failure to thr...	OMIM:269150
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia	OMIM:261740
Igg4-Related Ophthalmic Disease	Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Colon can...	ORPHA:449563
Beckwith-Wiedemann Syndrome	Omphalocele, Adrenocortical carcinoma, Adrenocortical cytomegaly, Neonatal hypoglycemia	OMIM:130650
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Diarrhea, Peritonitis, Patent ductus arteriosus, Hydrocel...	OMIM:619991
Scorpion Envenomation	Increased circulating lactate dehydrogenase concentration, Hyperglycemia, Elevated circulating as...	ORPHA:466677
Sarcoidosis, Susceptibility To, 1	Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine,...	OMIM:181000
Genitopatellar Syndrome	Anal stenosis, Cryptorchidism, Malrotation of small bowel, Anteriorly placed anus, Dysphagia, Ana...	OMIM:606170
Viss Syndrome	Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa...	OMIM:619472
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99413
Mosaic Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99228
Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99226
Turner Syndrome	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:881
Autosomal Dominant Cutis Laxa	Vomiting, Small bowel diverticula	ORPHA:90348
Wolf-Hirschhorn Syndrome	Cryptorchidism, Malrotation of small bowel, Cleft palate, Gastroesophageal reflux, Abnormal repet...	OMIM:194190
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Osteomyelitis	ORPHA:70591
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Intestinal malrotation, Supernumerary nipple, Cryptorchidism, P...	OMIM:312870
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia	ORPHA:444077
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Abnormality of the anter...	ORPHA:438213
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia	ORPHA:79102
Sotos Syndrome	Hip contracture, Inguinal hernia, Ankle flexion contracture, Aggressive behavior, Bilateral campt...	ORPHA:821
Mowat-Wilson Syndrome	Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ...	ORPHA:2152
Igg4-Related Kidney Disease	Sialadenitis, Abnormality of the anterior pituitary, Thyroiditis	ORPHA:449395
Pmm2-Cdg	Multiple joint contractures, Ataxia, Lipodystrophy, Hypogonadotropic hypogonadism, Elevated circu...	ORPHA:79318

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 Tcf7l2

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 Tcf7l2.

There are 19 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Astrocytic β-catenin signaling via TCF7L2 regulates synapse development and social behavior.	Molecular psychiatry (October 2023)	Tcf7l2^{tm1a(EUCOMM)Wtsi}	37798419
Tcf7l2 in hepatocytes regulates de novo lipogenesis in diet-induced non-alcoholic fatty liver disease in mice.	Diabetologia (February 2023)	Tcf7l2^{tm2a(EUCOMM)Wtsi}	PMC10036287
Olanzapine Promotes the Occurrence of Metabolic Disorders in Conditional TCF7L2-Knockout Mice.	Frontiers in cell and developmental biology (July 2022)	Tcf7l2^{tm1a(EUCOMM)Wtsi}	PMC9298277
TCF7 is not essential for glucose homeostasis in mice.	Molecular metabolism (March 2021)	Tcf7l2^{tm1a(EUCOMM)Wtsi}	PMC8086146
TCF7L2 regulates postmitotic differentiation programmes and excitability patterns in the thalamus.	Development (Cambridge, England) (August 2020)	Tcf7l2^{tm1c(EUCOMM)Wtsi} Tcf7l2^{tm1a(EUCOMM)Wtsi}	32675279
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Tcf7l2^{tm1a(EUCOMM)Wtsi}	PMC7263671
Loss of the nuclear Wnt pathway effector TCF7L2 promotes migration and invasion of human colorectal cancer cells.	Oncogene (March 2020)	Tcf7l2^{tm1a(EUCOMM)Wtsi}	PMC7203011
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Tcf7l2^{tm1a(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Tcf7l2^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Tcf7l2^{tm1a(EUCOMM)Wtsi}	PMC6459510
Targeted deletion of Tcf7l2 in adipocytes promotes adipocyte hypertrophy and impaired glucose metabolism.	Molecular metabolism (March 2019)	Tcf7l2^{tm1a(EUCOMM)Wtsi}	PMC6531814
Wnt Effector TCF4 Is Dispensable for Wnt Signaling in Human Cancer Cells.	Genes (September 2018)	Tcf7l2^{tm1a(EUCOMM)Wtsi}	PMC6162433
Tcf7L2 is essential for neurogenesis in the developing mouse neocortex.	Neural development (May 2018)	Tcf7l2^{tm1a(EUCOMM)Wtsi}	PMC5946422
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Tcf7l2^{tm1a(EUCOMM)Wtsi}	PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Tcf7l2^{tm1a(EUCOMM)Wtsi}	PMC5159622
Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource.	Mammalian genome : official journal of the International Mammalian Genome Society (August 2013)	Tcf7l2^{tm2a(EUCOMM)Wtsi}	PMC3745610
TCF7L2 modulates glucose homeostasis by regulating CREB- and FoxO1-dependent transcriptional pathway in the liver.	PLoS genetics (September 2012)	Tcf7l2^{tm1a(EUCOMM)Wtsi}	PMC3459990
Reduction in Tcf7l2 expression decreases diabetic susceptibility in mice.	International journal of biological sciences (June 2012)	Tcf7l2^{tm1a(EUCOMM)Wtsi}	PMC3372883
Agouti C57BL/6N embryonic stem cells for mouse genetic resources.	Nature methods (June 2009)	Tcf7l2^{tm2a(EUCOMM)Wtsi}	PMC3555078

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MGI Allele	Allele Type	Produced
Tcf7l2^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Tcf7l2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Tcf7l2^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tcf7l2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tcf7l2 MGI:1202879

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

DSS Histology

X-ray

Anti-nuclear antibody assay

X-ray

X-ray

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Tcf7l2 mutations

Histopathology

IMPC related publications

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