Gene Summary

Name:
transcription factor 7 like 2, T cell specific, HMG box
Synonyms:
mTcf-4E,  TCF4E,  Tcf4,  mTcf-4B,  TCF4B,  Tcf-4

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased red blood cell distribution width Tcf7l2tm1a(EUCOMM)Wtsi HET Early adult 3.58×10-07
preweaning lethality, complete penetrance Tcf7l2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased total body fat amount Tcf7l2tm1a(EUCOMM)Wtsi HET   Early adult 1.64×10-05
increased mean platelet volume Tcf7l2tm1a(EUCOMM)Wtsi HET Early adult 4.66×10-06
increased bone mineral content Tcf7l2tm1a(EUCOMM)Wtsi HET Early adult 6.31×10-06
increased bone mineral density Tcf7l2tm1a(EUCOMM)Wtsi HET Early adult 2.61×10-06
increased lean body mass Tcf7l2tm1a(EUCOMM)Wtsi HET   Early adult 1.22×10-05

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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 Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Forepaw

14 Images

Legacy Phenotype Associated Images

View all 265 images

View all 9 images

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.

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
Type II diabetes mellitus, Insulin resistance OMIM:125853
Non-Specific Syndromic Intellectual Disability
Attention deficit hyperactivity disorder, Decreased body weight, Precocious puberty, Impaired tan... ORPHA:528084

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis 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
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Hyperinsulinemia, Obesity, Child... ORPHA:71529
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... ORPHA:293964
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Excessive insulin ... ORPHA:324575
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Hypoglycemia, Decreased serum insulin-like growth factor 1, Decreased... ORPHA:314811
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71526
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
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Excessive insulin ... ORPHA:276580
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture, Connective tissue nevi OMIM:166700
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Obesity, Attention deficit hyperactivity disorder, Hyperinsulinemia ORPHA:369873
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Enterocolitis
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Pituitary Carcinoma
Increased circulating prolactin concentration, Enlarged pituitary gland, Diabetes insipidus, Pitu... ORPHA:300385
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Polyphagia, Focal pancreatic islet hyperplasia, E... ORPHA:276575
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia ORPHA:329249
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Polyphagia, Excessive insulin response to glucagon test, Hyperinsulinem... ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Lactose Intolerance, Adult Type
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223100
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Polyphagia, Decreased response to growth hormone stimulation test, Gonadot... OMIM:609734
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Diarrhea 2, With Microvillus Atrophy
Protracted diarrhea, Abnormal intestine morphology, Death in infancy, Villous atrophy OMIM:251850
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Type 1 Diabetes Mellitus
Hyperglycemia, Polyphagia, Diabetes mellitus, Polydipsia OMIM:222100
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Thyroid Hormone Metabolism, Abnormal
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Dystonia, Hypoglycemia, Hypogonadism, Ataxia OMIM:616113
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas ORPHA:1879
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Leptin Receptor Deficiency
Polyphagia, Pituitary hypothyroidism, Abnormal eating behavior, Diabetes mellitus, Hypergonadotro... OMIM:614963
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Dystonia, Hypoglycemia, Progressive cerebellar ataxia ORPHA:67046
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... OMIM:619079
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Hyperinsulinemic hypoglycemia... ORPHA:97279
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin ... OMIM:262700
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Recurrent aphthous ... OMIM:266600
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis OMIM:613960
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Temple Syndrome
Type II diabetes mellitus, Polyphagia, Small for gestational age, Recurrent hypoglycemia, Obesity... ORPHA:254516
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Obesity, Polyphagia, Large for gestational age OMIM:248100
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Cleft palate, Decreased testicular size OMIM:614880
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior, Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Enlarged pituitary gland, Hypogonadism, Panhypopit... ORPHA:91351
Jejunal Atresia
Jejunal atresia OMIM:243600
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Unsteady gait, Hypoglycemia OMIM:610090
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:66628
Melorheostosis
Ectopic ossification in muscle tissue, Failure to thrive, Hyperostosis, Arthritis, Atypical scarr... ORPHA:2485
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia OMIM:232700
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Increased bone mine... OMIM:231095
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... ORPHA:181393
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder... ORPHA:35878
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:179494
Congenital Short Bowel Syndrome
Vomiting, Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrotation, Chr... OMIM:615237
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Barrett esophagus, Gastroesophagea... ORPHA:70482
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland, Secondary microcephaly, Hypoplasia of the corpus callosum, Diffuse cerebra... OMIM:617395
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:91350
Isolated Osteopoikilosis
Keloids, Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal... ORPHA:166119
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Nausea, Malabsorption, Abnormal small intestinal mucosa morphology, Chronic diarrhea, D... ORPHA:103907
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Hyperlipoproteinemia, Type Id
Colitis OMIM:615947
Slc35A1-Cdg
Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis ORPHA:238459
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Intractable diarrhea OMIM:613217
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia OMIM:306000
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased s... OMIM:618157
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Polyphagia, Large for gestational age OMIM:617119
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Dystonia, Hypoglycemia, Small for gestational age OMIM:614702
Graves Disease, Susceptibility To, 1
Goiter, Polyphagia, Weight loss, Hyperactivity, Graves disease OMIM:275000
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, High palate, Cryptorchidism OMIM:612702
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Diarrhea, Villous atrophy, Vomiting OMIM:615863
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive, Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Decreased r... OMIM:606407
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Hyperglycemia, Truncal obesity, Obesity OMIM:615986
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Cerebral calc... ORPHA:54595
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Esophageal neoplasm, Abnormal large intestine morpholog... ORPHA:2198
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Inability to walk, Male hypogonadism, Difficulty walking... OMIM:300148
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Broad-based gait, Obesity ORPHA:411515
Combined Oxidative Phosphorylation Deficiency 34
Hypogonadism, Hypoglycemia, Primary adrenal insufficiency, Failure to thrive OMIM:617872
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Hypoketotic hypoglycemia OMIM:610768
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Vomiting, Microvillus inclusions, Microvillar PAS-positive secretory granules, S... OMIM:619445
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Dystonia, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypog... ORPHA:453533
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Arthritis, Splenomegaly, Giant platelets, Chronic hemo... OMIM:210250
Huntington Disease
Gait disturbance, Dystonia, Gait imbalance, Polyphagia, Decreased body mass index, Choking episod... ORPHA:399
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Polyphagia, Vomiting,... ORPHA:95427
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Pituitary hypothyroidism, Gonadotropin deficiency, Anterior pituitary hypoplasia, Hypothalamic lu... ORPHA:231720
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Dystonia, Ketotic hypoglycemia, Lethargy ORPHA:26792
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Small for gestational age ORPHA:231147
Dihydrolipoamide Dehydrogenase Deficiency
Ataxia, Dystonia, Hypoglycemia, Lethargy OMIM:246900
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Patent ductus arteriosus ORPHA:2978
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Decreased body weight, Hypoglycemia, Small for gestational age, Neonatal hypoglycemia ORPHA:231140
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Hypogonadotropic hypogonadism, Polyphagia ORPHA:177910
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Failure to thrive, Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, Lethargy ORPHA:2089
Tsh-Secreting Pituitary Adenoma
Central adrenal insufficiency, Enlarged pituitary gland, Goiter, Hypogonadotropic hypogonadism, D... ORPHA:91347
Pelger-Huet Anomaly
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... OMIM:169400
Pituicytoma
Increased circulating prolactin concentration, Hypogonadotropic hypogonadism, Pituitary hypothyro... ORPHA:251623
Meningioma
Neoplasm of the tongue, Enlarged pituitary gland, Decreased circulating cortisol level, Hypothala... ORPHA:2495
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Vascular Hyalinosis
Diarrhea, Protein-losing enteropathy, Malabsorption, Hematochezia OMIM:277175
Alpha-Heavy Chain Disease
Abnormality of the small intestine, Malabsorption, Premature ovarian insufficiency ORPHA:100025
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Decreased circul... ORPHA:95513
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Anterior pituitar... OMIM:221750
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia, Gait ataxia, Unsteady gait OMIM:618158
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Increased circulating ACTH level, Failure to thrive, Decreased circulatin... OMIM:202200
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia ORPHA:67048
Cog2-Cdg
Small pituitary gland, Secondary microcephaly, Hypoplasia of the corpus callosum, Diffuse cerebra... ORPHA:435934
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... OMIM:616860
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
6Q16 Microdeletion Syndrome
Obesity, Broad-based gait, Polyphagia ORPHA:171829
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Increased mitochondrial number OMIM:619063
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Immunodeficiency 31C
Abnormal intestine morphology, Diarrhea, Villous atrophy OMIM:614162
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus at puberty, Red... ORPHA:280356
Schnitzler Syndrome
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased bone mineral density ORPHA:37748
Schaaf-Yang Syndrome
Failure to thrive in infancy, Polyphagia, Arthrogryposis multiplex congenita, Hypogonadism, Inabi... OMIM:615547
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased circulating c... ORPHA:95512
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hypothyroidism, H... OMIM:262600
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Recurrent skin infections, Co... OMIM:300635
Atresia Of Small Intestine
Jejunal atresia, Intestinal hypoplasia, Intestinal malrotation, Vomiting ORPHA:1201
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Dystonia, Hypoglycemia ORPHA:289504
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia OMIM:617156
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hypoglycemia, Precocious puberty, Congenital hypothyroidism OMIM:614736
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus OMIM:618858
2P21 Microdeletion Syndrome
Hypogonadism, Hypoglycemia, Failure to thrive ORPHA:163693
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Adrenocortical hypoplasia, Lethargy OMIM:307030
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Lethargy OMIM:610006
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia, Recur... OMIM:611490
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Dysphagia, Hypoglycemia OMIM:618958
Carnitine Deficiency, Systemic Primary
Hypoglycemia, Failure to thrive, Recurrent hypoglycemia, Impaired gluconeogenesis, Lethargy OMIM:212140
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Immunodeficiency, Common Variable, 11
Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea OMIM:615767
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Hepatosplenomeg... OMIM:259710
Septooptic Dysplasia
Diabetes insipidus, Absent septum pellucidum, Anterior pituitary hypoplasia, Decreased response t... OMIM:182230
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Pathologic ... OMIM:259700
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Diabetes mellitus, Insulin resistance ORPHA:79084
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated hepatic tr... OMIM:618549
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Orotic Aciduria
Hypochromia, Failure to thrive, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic... OMIM:258900
Colonic Atresia
Colonic atresia OMIM:303650
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Gait imbalance, Lethargy OMIM:618120
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Intestinal obstruction, Abdominal pain,... ORPHA:26790
Eosinophilic Gastroenteritis
Dysphagia, Vomiting, Malabsorption, Steatorrhea, Abnormality of the gastrointestinal tract, Diarr... ORPHA:2070
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Immunodeficiency 76
Chronic diarrhea, Colitis, Recurrent pneumonia OMIM:619164
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
Septopreoptic Holoprosencephaly
Dysphagia, Perisylvian polymicrogyria, Megalencephaly, Abnormal corpus callosum morphology, Abnor... ORPHA:280195
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density, Decreased body weight, Umbilic... OMIM:614856
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia OMIM:619048
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Sim1-Related Prader-Willi-Like Syndrome
Lethargy, Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Failure to thrive, Prema... ORPHA:398079
Blue Diaper Syndrome
Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyroid-stimulating ... ORPHA:94086
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Dystonia, Inability to walk, Hypoglycemia OMIM:614739
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Majeed Syndrome
Leukocytosis, Cachexia, Hypochromic microcytic anemia, Synovitis, Failure to thrive, Congenital h... ORPHA:77297
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:98754
Proprotein Convertase 1/3 Deficiency
Diarrhea, Villous atrophy, Malabsorption OMIM:600955
Mitochondrial Complex I Deficiency, Nuclear Type 33
Dysphagia, Hypoglycemia OMIM:618253
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Dysmetria, Hypogonadotropic hypogonadism, Ataxia, Camptodactyly of finger ORPHA:48431
Autoinflammatory Syndrome, Familial, Behcet-Like
Ileal ulcer, Colitis, Skin rash, Anterior uveitis OMIM:616744
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Ataxia, Hypoglycemia, Lethargy ORPHA:2394
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:98793
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonat... ORPHA:263455
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Failure to thrive, Truncal obesity, ... ORPHA:73272
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent si... OMIM:619281
Culler-Jones Syndrome
Cleft palate, Diabetes insipidus, Hypogonadism, Anterior pituitary hypoplasia, Cryptorchidism, Hy... OMIM:615849
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive OMIM:617718
Pituitary Stalk Interruption Syndrome
Hypoglycemia, Diabetes insipidus, Failure to thrive, Abnormality of the hypothalamus-pituitary ax... ORPHA:95496
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:177904
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:177901
Pick Disease Of Brain
Polyphagia OMIM:172700
Pediatric-Onset Graves Disease
Increased circulating T4 level, Polydipsia, Goiter, Polyphagia, Puberty and gonadal disorders, Fa... ORPHA:525731
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:608600
Feingold Syndrome Type 2
Jejunal atresia ORPHA:391646
Immunodeficiency 70
Celiac disease, Achalasia, Furuncle, Colitis, Recurrent sinusitis OMIM:618969
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Acne, Arthritis, Colitis OMIM:604416
Congenital Tufting Enteropathy
Villous atrophy, Vomiting, Malabsorption, Anal atresia, Abnormal small intestinal mucosa morpholo... ORPHA:92050
Pancreatic Colipase Deficiency
Cholelithiasis, Chronic diarrhea, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption ORPHA:309108
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age OMIM:615160
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 level, Central hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:301033
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Diarrhea, Villous atrophy, Vomiting OMIM:602579
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Frontotemporal Dementia
Polyphagia OMIM:600274
Propionic Acidemia
Hypoglycemia ORPHA:35
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Trigonocephaly 1
Meckel diverticulum OMIM:190440
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Hypoglycemia, Lethargy OMIM:210200
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Protein-losing enteropathy, Hematochezia ORPHA:103910
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Unsteady gait, Hypoglycemia ORPHA:79096
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, C... ORPHA:1306
Galactokinase Deficiency
Hypoglycemia, Small for gestational age, Failure to thrive, Hypergonadotropic hypogonadism, Hyper... ORPHA:79237
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Ataxia, Hypoglycemia, Failure to thrive OMIM:220111
Solitary Rectal Ulcer Syndrome
Bloody diarrhea, Rectal prolapse, Bloody mucoid diarrhea, Stercoral ulcer, Intermittent diarrhea,... ORPHA:209964
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:398073
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Solitary Fibrous Tumor/Hemangiopericytoma
Recurrent hypoglycemia, Weight loss, Hypoinsulinemia, Hypoglycemia ORPHA:2126
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes melli... OMIM:604367
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... ORPHA:71275
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hypoglycemia, Delayed puberty ORPHA:369
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Recurrent... ORPHA:53
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Dystonia, Hypoglycemia, Ataxia OMIM:256810
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Cleft palate, Diabetes insipidus, Septo-optic dysplasia, Abnormality of the hy... ORPHA:3157
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypoglycemia, Lethargy OMIM:619386
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Glucose intolerance ORPHA:75563
Man1B1-Cdg
Truncal obesity, Broad-based gait, Polyphagia ORPHA:397941
Sheehan Syndrome
Central adrenal insufficiency, Abnormal size of pituitary gland, Decreased circulating cortisol l... ORPHA:91355
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Ectopic posterior pi... ORPHA:67045
Dominant Beta-Thalassemia
Failure to thrive in infancy, Hypochromic microcytic anemia, Osteoporosis, Persistence of hemoglo... ORPHA:231226
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Chronic diarrhea, Crohn's disease, Colitis, Ulcerative colitis OMIM:618394
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction... OMIM:243180
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Hypoglycemia, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, ... ORPHA:95619
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Villous atrophy, Duodenitis OMIM:614328
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Prader-Willi Syndrome
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Failure to thrive, Premature a... ORPHA:739
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia ORPHA:228402
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Diabetes mellitus, Glycosuria, Large for gestational age OMIM:616026
Prader-Willi Syndrome
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Polyphagia, Hypog... OMIM:176270
Magel2-Related Prader-Willi-Like Syndrome
Lethargy, Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Failure to thrive, Absen... ORPHA:398069
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Small for gestational age ORPHA:231137
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Gastritis, Perianal abscess, Skin rash, Diar... OMIM:618108
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Thoraco-Abdominal Enteric Duplication
Meningocele, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia OMIM:615538
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Small for gestational age, Hyperglycemia, Glycosuria, Type I diabetes mellitus OMIM:618857
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:612840
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Classic Galactosemia
Gait disturbance, Dystonia, Hypoglycemia, Decreased serum insulin-like growth factor 1, Gait imba... ORPHA:79239
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Diabetes mel... OMIM:609069
Laron Syndrome
Abnormality of the endocrine system, Hypoglycemia, Delayed puberty, Truncal obesity ORPHA:633
Cebalid Syndrome
Congenital diaphragmatic hernia, Polyphagia OMIM:618774
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Dysphagia, Colitis, Arthritis, Chronic gastritis, Di... OMIM:608809
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Slender build, Anemia, Diaphyseal sclerosis, Reduced ... OMIM:131300
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decre... OMIM:618278
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Osteoporosis... OMIM:607330
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume, Inguinal hernia, Camptodactyly OMIM:616737
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue,... OMIM:608594
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:157954
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Hypoglycemia, Ataxia, Lethargy ORPHA:42
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Type II diabetes mellitus, Abnormality ... ORPHA:2298
Cog8-Cdg
Failure to thrive, Ataxia, Hypoglycemia ORPHA:95428
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation... ORPHA:263665
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting OMIM:613412
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting OMIM:610247
Fg Syndrome Type 1
Pyloric stenosis, High palate, Abnormal large intestine morphology, Anal atresia, Small pituitary... ORPHA:93932
Infantile Liver Failure Syndrome 2
Hypoglycemia, Lethargy OMIM:616483
Gaucher Disease Type 1
Leukopenia, Anemia, Splenomegaly, Pathologic fracture, Osteopenia, Hypersplenism, Increased bone ... ORPHA:77259
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Congenital Disorder Of Glycosylation, Type Ih
Vomiting, Patent ductus arteriosus, Cryptorchidism, Diarrhea, Protein-losing enteropathy OMIM:608104
Mitochondrial Complex I Deficiency, Nuclear Type 19
Athetosis, Gait disturbance, Inability to walk, Hypoglycemia OMIM:618241
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoglycemia, Small for gestational age, Dorsocervical fat pad, Diabetes mellitus, Hypothyroidism... ORPHA:391408
Acth Deficiency, Isolated
Adrenal hypoplasia, Fasting hypoglycemia, Adrenocorticotropic hormone deficiency, Decreased circu... OMIM:201400
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Polyphagia, Pituitary adenoma, Hypopituitarism, Ele... OMIM:300942
Lipodystrophy, Congenital Generalized, Type 2
Polyphagia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue,... OMIM:269700
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Small for gestational age, Hypothyroidism, Attention deficit hyperactivity disorder... ORPHA:397590
Mungan Syndrome
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction OMIM:611376
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Death in infancy, Intestinal malrotation, Hypoperistalsis, Abnormality of the gastrointestinal tr... ORPHA:2241
Donohue Syndrome
Fasting hypoglycemia, Hyperglycemia, Adipose tissue loss, Precocious puberty, Pancreatic islet-ce... OMIM:246200
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Congenital thrombocytopenia, Intermittent throm... OMIM:313900
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia ORPHA:791
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Gastropa... OMIM:155310
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Diarrhea, Fat malabsorption, Death in childhood OMIM:601847
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia, Failure to thrive ORPHA:5
Trisomy 18P
Attention deficit hyperactivity disorder, Polyphagia ORPHA:1715
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Ataxia, Neonatal hypoglycemia OMIM:619046
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Vomiting, Xerostomia, Gastrointestinal carcinoma, Malabsorption, Glossitis, Diarrhea, Hamartomato... OMIM:175500
Glycogen Storage Disease Iii
Hypoglycemia OMIM:232400
Ganglioneuroma
Colorectal polyposis, Functional intestinal obstruction, Gastrointestinal hemorrhage, Abnormal re... ORPHA:251992
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Cirrhosis, Hepatic steatosis, Diab... OMIM:606069
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... ORPHA:2088
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis OMIM:618154
Alg1-Cdg
Chronic diarrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract ORPHA:79327
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Gastric Volvulus, Intrathoracic
Volvulus, Hiatus hernia OMIM:137210
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting ORPHA:79319
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph... ORPHA:411696
Trichohepatoenteric Syndrome 2
Diarrhea, Colitis, Villous atrophy OMIM:614602
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance OMIM:144600
Hypoadrenocorticism, Familial
Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia OMIM:240200
Maple Syrup Urine Disease
Ataxia, Hypoglycemia, Lethargy OMIM:248600
Hyperthyroidism, Familial Gestational
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level OMIM:603373
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Lethargy ORPHA:156
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Decreased circ... ORPHA:90695
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Colonic diverticula, Small bowel diverticula OMIM:223330
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, H... ORPHA:199296
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Agenesis of corpus callosum, Septo-optic dysplasia, Median cleft lip an... ORPHA:95494
Glutaric Acidemia I
Failure to thrive, Dystonia, Hypoglycemia OMIM:231670
Martinez-Frias Syndrome
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Jejunal atresia, Intestinal malrotatio... OMIM:601346
Hemochromatosis, Neonatal
Hypoglycemia OMIM:231100
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia ORPHA:3085
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Lethargy OMIM:615751
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Autoinflammation With Infantile Enterocolitis
Secretory diarrhea, Villous atrophy, Episodic vomiting, Enterocolitis OMIM:616050
Angelman Syndrome
Dysphagia, Precocious puberty in females, Polyphagia, Hyperactivity, Inability to walk, Ataxia, B... ORPHA:72
Joubert Syndrome 38
Small pituitary gland, Decreased response to growth hormone stimulation test, Decreased serum ins... OMIM:619476
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Infectious encephalitis, Villous atrophy, Protracted diarrhea, Malabsorption, Chroni... OMIM:209920
Hypothyroidism, Congenital, Nongoitrous, 9